Adventures in Raising a Disabled Child

The Special Needs Tooth Fairy

2012-02-01T12:49:00.000-07:00

Typical children our society have a pretty good grasp on currency by the time they're old enough to start losing their teeth. In fact my four year-old son, Liam, is getting pretty good about asking for his allowance on Saturday after he's had a good week helping out around the house. However, Whitney is now eight and beginning to lose her baby teeth but she has no clue about money. The only time she shows any interest is when she steals Liam's piggy bank and shakes it because she likes the sound.

As you can probably guess by now, this is all leading up to an important question. What does the Tooth Fairy bring a special needs child? Whit lost her second tooth over the weekend. When she lost her first one, she swallowed it. (We think.) So Melanie and I were kind of off the hook. But this time, we've got the tooth in hand. And we'd like for Whitney to have a positive experience related to losing teeth. It's been kind of traumatic for her so far. We don't need to go into it too far but something about having a parent hold her mouth open and pull on her teeth doesn't sit well with her.

So to make things more positive, we're considering having the Tooth Fairy bring some candy or a bag of chips! That'll probably seem pretty strange to most people but those are some of the things Whitney enjoys most. At dinner, if she eats well, Whitney asks for chips instead of dessert. And she's always digging through the diaper bag looking for hidden packs of Smartees, Pez or other crunchy candy.

So I guess that's what we'll try. Should be entertaining to try and stick a bag of chips under a sleeping child's pillow. No wonder the Tooth Fairy usually just opts for cash.

Have any of you other special needs parents out there been through this? How did you handle the Tooth Fairy in your home? I'd love to hear some of your stories.

Birthday Time

2012-01-23T12:59:00.002-07:00

Our family had a wonderful time celebrating Whitney's 8th birthday last week. Fist, off it was dinner at Arctic Circle, Whit's dining establishment of choice. I have a hunch it's because they serve chicken nuggets and have an indoor playground.

Melanie did up some birthday cupcakes and had Whitney try to blow at least one candle. But she's still working on that skill. So after a few attempts, little brother, Liam was happy to step in and extinguish the flame.

Then it was time for presents. Whit got a new dress, a new shirt and hair clips from her cousins and some new shoes to go with her new ankle braces. Just like with her new iPhone case that I mentioned last time, Whitney picked out her new shoes. Melanie took her to Payless and the two of them spent quite a bit of time finding different styles that would fit over the new braces. By the way, black, white and pink seem to be Whitney's favorites right now when it comes to footwear.

I promised a few readers I'd try to give some info on what we found that fit well, but there was no trend where certain brands or styles fit. Mel and Whit mainly went by trial and error until they found a couple of pairs that worked. One thing I can say is that, as Whitney's feet have grown and the braces she uses have gotten longer in relation to their width, shoes that fit have gotten easier to find. So for parents of younger kids, you'll have better success in your shoe search. It may just take a few years.

Happy birthday to my little Whitney. You're not so little any more. Thank you for all you've taught me over the years. I can't imagine my life without you. And I know we're in for another adventure of a year this year.

Birthday Shopping

2012-01-17T12:39:00.002-07:00

It's fun to watch as special needs children grow and become much more able to express their preferences and personal style. In Whitney's case, as with many challenged kiddos, communication starts with getting messages across about basic needs. But as time has gone on Whitney has been able to share more about her likes and dislikes and things that are her favorite.

This was brought to my mind again as Whitney's birthday is coming up. She is in need of a new dress some new shoes to go with those new braces (that should be coming in the mail any day now) and a new case for her iPhone. (She uses it to speak and to play.)

We're still in the hunt for Whit's birthday dress and shoes because finding things that fit can be a bit of a challenge. But a case for Whitney's hand-me-down phone is taken care of. Whitney sat down with Melanie and looked at case designs on the computer. Whit told her the colors she'd like and pointed to patterns that looked fun. After narrowing things down for a while, Whit decided on a case that is black with pink flowers and butterflies on it. It totally reflects her style and I know she'll love it.

A shopping experience like that something most parents would take for granted, but for special needs parents it's a different story. It makes me so happy to know that even though my daughter doesn't really speak, she can enjoy shopping with her mother and picking out things she loves using signs and gestures.

Next up, clothes shopping and a birthday party. Should be an adventure! I'll report back on the celebration.

New Ankle Braces

2012-01-06T12:28:00.000-07:00

Whitney had a visit with her physical therapist this week. The first one of the new year. It was time to get measured for some new ankle braces. Whitney has worn her current pair of Dynamic Ankle Foot Orthotics (DAFOs) for over two years and they were getting way too small.

As part of the fitting, the therapist watched Whitney walk with and without her braces. Whit is actually really improving in her ability to keep her ankles straight without as much help. She can keep her right one a lot straighter then her left. So we're going to try something new. On her left foot, she'll still wear a traditional DAFO that is custom molded to give her the support she needs. But on her right foot, Whitney will begin wearing a Cascade JumpStart Leap Frog. The JumpStart is not custom molded but still provides Whitney with plenty of support. And it's quite a bit cheaper. Which doesn't hurt our feelings.

As always, the therapist let Whit pick out the colors. And even though Melanie encouraged her to try pink or purple, Whitney insisted on blue trim for her new braces, just like in the picture here. So the left foot mold is off to manufacturing and we'll await a new pair of braces to help Whitney get around on her own two feet.

Then it'll be off to the shoe store to find those all important new shoes. By the way, picking out shoes to go over DAFOs can be a bit of a challenge. Reader, Angie, posted just this morning about using Saucony running shoes in a wide width for her daughter. They're light and breathable and worth checking out. Thanks for the tip! I'll report back on what new kicks Whitney will be sporting once the braces arrive.

Merry Christmas and Happy New Year!

2011-12-22T16:17:00.000-07:00

Whitney got sick to her stomach and started her Christmas vacation a couple of days early this year. She missed her school party, but we made up for it at home once she was feeling better. Thankfully, by Christmas day, Whit was feeling great and able to participate in all the fun.

Whitney understands all about presents and opening them at this point. The one thing we have a little trouble with is getting her to move on to the next gift when she's unwrapped something she's really interested in. This year in addition to some great toys and clothes, Whitney got some fun iPad games that teach about numbers and letters. She loves playing on the iPad and hopefully she'll learn some things while she plays. Whit also loved being around so many members of the family over the Christmas break. Grandparents, aunts, uncles and cousins all got their share of Whitney hugs.

As we look to the year ahead, Melanie and I are hoping to get to work on potty training again when Whit is off track from school in January. We'd sure love to have Whitney make some progress in that department this next year. Whit's also got a heart checkup coming soon. It's been a couple of years and we need to make sure her unusual rhythm isn't causing her any troubles. So there will be plenty of adventures coming up. I'll be sure to share them here. Thanks for reading and following along. From Whitney and the family, our best wishes for a very happy new year!

Individual Education Plan 2012

2011-12-07T12:06:00.001-07:00

Each year Melanie and I meet with Whitney's team from the school district to discuss the educational plans that have been tailored especially for her. Depending on the school district and the educators, these meetings can turn into quite a battle. But thankfully, we've been given some great folks to work with and they do amazing things for Whitney.

In the classroom, the plan is to continue working on sight words, signs and reading. Whitney loves this activity and is getting a lot out of it. To support this, Whitney's speech therapist is going to be working more with Whit over the next year on reading comprehension. This will be a big help, because there's still some question about how much Whitney is picking up by memorization and repetition and how much she is picking up because she understands what she reads.

Whitney's doing well with speech therapy. She's starting to work more with the speech software on the iPad and iPhone and she loves it. The big thing we're focusing on now is recognizing when it's time to work with the device versus playing with it. That's tough for Whit because she absolutely loves to tap away at games, listen to music and watch videos on her iPhone.

We also found out that Whitney's interpreter will be moving with her to third grade next fall. We love her and are thrilled she'll be sticking around. Whitney gets along well with her. And since Whit will likely change schools next fall, having the same interpreter will be a big help.

Whitney's physical therapist is beginning to step back a bit. Whitney is really doing about everything she should with walking, sitting, standing, climbing stairs etc. One of the goals from last year was to be able to go from sitting to standing in the middle of a room. The therapist has worked long and hard with Whit on this goal and we all believe she is strong enough to do it, but Whitney refuses. She's physically capable of accomplishing the task, but she doesn't want to. So the therapist will check in regularly to see how Whitney is doing, but Whitney needs to decide it's time before she meets that goal.

Another big area we're pushing for 2012 is occupational therapy. There are so many everyday tasks that take extra work for Whit to learn! Buttoning a button, tying a shoe, holding a pen or pencil and of course using the bathroom. Potty training has been a very drawn out thing for Whitney. It's partly been a problem of lack of desire. So we're going to put our heads together again and see if we can find some new ways to motivate her and make it happen.

Melanie and I are very pleased with the great progress Whitney is making and for all of the wonderful help she receives. A big thank you to all the educators on team Whitney! We're grateful for all you do and are excited for another big year.

Whitney Reads Her First Book

2011-11-22T13:16:00.001-07:00

Whitney has been working with her sight words and has progressed on to reading short, simple books. This one is her first, about people and their homes. She reads it every day for practice. But every time she smiles and is so proud of the accomplishment. Melanie and I are proud of her too. She may have special needs but she clearly has no limits.

Feeling Good!

2011-11-11T11:56:00.001-07:00

I post fairly frequently about the health troubles that Whitney has. He immune system doesn't function nearly as well as a typical child and she's always got her hands in her mouth. That's a combination that leads to a fair share of colds, stomach flu and other contagious bugs.

The good news is that lately Whitney has been much healthier. Earlier this year we were averaging one day of sick stomach at least every other week. Colds that lead to sinus infections and a doctor's visit were happening every month. But the last month, Whitney has been feeling great. Melanie has been trying some new vitamins as well as a new warm, sterile humidifier that runs during the night next to her bed and they seem to be helping. In fact Whitney hasn't even had an ear infection lately. And that's one of the things she constantly struggles with.

We've been very grateful to have such a healthy, happy girl around the house over the last little bit and we hope things continue. It feels so good to have her healthy and able to do the things she loves. And during the tough times that may come, these good times give us something to look back on and be thankful for.

Above is a shot of Whitney the Super Girl before she headed around the neighborhood last week to collect an obscene amount of candy

Parent Teacher Conferences

2011-11-04T12:24:00.000-06:00

A few weeks back Melanie and I were able to sit down with Whitney's second grade teacher and some of the classroom therapists and chat about her progress so far this school year. As with any child, Whitney has her ups and downs at school, but she's really doing quite well. Here are a few specifics:

Staying in her seat is getting better. Last year this was a big problem. Whit just wasn't content to stay at her desk during class and she would just get up an wander the room. This year they're focusing more on helping her stay on task and it's having a positive effect.

She's making amazing progress on reading sight words. The entire class is working with a new program where they memorize five sight words at a time with new words each week. You can see a picture of the words Whitney's currently working on in this post. Since Whit doesn't speak, they teach her to recognize the word as well as the sign the word at the same time. They also teach the meaning of the word so she can put the whole thing together in her mind. Her teacher and speech therapist report that she's picking up words like crazy and I have full confidence that one day not too many years down the road, Whitney will be able to sit down with a book and read it to herself.

Math is an area she struggles in. Whitney just isn't interested. She is bored by counting and adding unless you do it with her on an iPad. She doesn't like to count objects or point out her numbers on a piece of paper. But when you put things on a screen, her teachers have discovered that she's interested for at least long enough to complete the exercise.

Speech with the iPad and Proloquo2Go continues to progress. Whitney has to ask for things in class by signing or pressing the buttons to say the words. That way she learns that it's not just play time when she has the iPad. And they've had some success. Whitney will make a request that's actually a full sentence, such as, "I want big bubbles." We were so excited to hear this, because it will open the door for her to speak to anyone and everyone instead of just the few who sign.

Overall, we're very pleased with Whitney's progress at school. She loves going and she's getting a lot out of it.

1p36 Deletion Syndrome Resources

2011-10-13T13:03:00.002-06:00

Most of the time I love sharing experiences and information that families with special needs can all relate to regardless of specific circumstances. But I want to take just a second to share some information that I've found useful with regard to my daughter's genetic disorder. Whitney was diagnosed with 1p36 Deletion Syndrome in the summer of 2004. It's hard to believe that seven years have passed. Since then, we've met many amazing families who have been affected by the same genetic deletion. They've pointed us in the direction of internet support groups and charitable organizations to help answer our questions and be there for us when we've needed it. If you've just joined us on our adventures in raising Whitney, and you have a loved one affected by 1p36 Deletion Syndrome, please take advantage of the following wonderful resources:

1p36 Deletion Support & Awareness - This non-profit organization was founded in 2008 by concerned parents and caregivers affected by 1p36 Deletion Syndrome. Their mission is "to help individuals affected by chromosome 1p36 abnormalities overcome the obstacles they face to be able to lead healthy, happy and productive lives." The organization sponsors annual conferences for families and caregivers working to fulfill that mission. You can read their quarterly newsletters, learn about upcoming awareness efforts and make a contribution by visiting www.1p36dsa.org.

1p36 Deletion Awareness & Support Facebook Group - To get in touch with parents and others who have been touched by someone with a 1p36 Deletion please request membership to this Facebook group. There are now over 245 members with experiences and knowledge to share. The environment is friendly and supportive. And it's a great place to get your questions answers if a loved one of yours has just been diagnosed.

Signature Genomics - This company was founded by Lisa Shaffer a genetics researcher who is a pioneer in microarray-based cytogenetic diagnostics. In other words, the genetic testing techniques she developed have allowed for greater understanding of 1p36 Deletion Syndrome and other genetic conditions. She is an expert on 1p36 Deletions and has an ongoing study that many 1p36 patients have participated in. To get more information about this company, Dr. Shaffer's study and how they might be able to help as you learn more about a loved one's condition, visit www.signaturegenomics.com.

I hope these resources will help visitors out. My family has benefited so much by being in contact with other great people around the world who are experiencing the same things we are. And if you have questions or other resources you've used, feel free to post in the comments.

Reading Time

2011-09-29T12:58:00.001-06:00

Years ago, when Whitney was diagnosed with 1p36 Deletion Syndrome, I would have never have believed that she would one day be learning to read. In those days the doctors had told Melanie and I that so many things would never happen for our daughter. And yet here we are. In second grade, Whitney has been working on a new reading program that we are really excited about.

Non-verbal children who have some hearing loss don't learn to read like a typical child. Typical children learn their letters and then sound out the words. But Whitney can't sound out words even though she knows all of her letters. So an entirely different approach is taken. In class, the student is taught to memorize sight words and their meanings. This requires quite a bit of repetition, but the program tries to make it more of a game so students don't get tired of it.

In class, Whitney is shown a page where a new word is presented. The teacher signs the word and points to it. Then on the next row the new word and some other word are listed. Whitney has to look at both words and choose the one she's currently learning. On the next row of the page three words are presented and Whitney needs to pick out her new word. This way the word is being memorized by sight and can later be picked out on a page when reading a book. The more words she memorizes, the closer she'll be to reading actual phrases and sentences.

Whitney loves books so much and she's really been working hard at this new reading program. As she's reading her vocabulary is growing and she's learning new signs as well. I can hardly wait for the day when she'll be able to sit down with some of her favorite easy reading books and enjoy them all by herself. It's going to be absolutely life-changing.

(The accompanying image for this post is from The Fantastic Flying Books of Mr. Morris Lessmore, one of Whitney's favorite interactive books available for iPad. It's an amazing children's story about the healing power of reading and it's a lot of fun too.)

Magic at Disneyland

2011-09-13T12:59:00.002-06:00

As we continue our efforts to fight getting shut in as a family, we spent a wonderful week playing at Disneyland. Whitney's grandparents joined us to help make things a little easier managing our three young kids and we had an excellent experience.

Whitney is so good on her feet that we almost decided to have her walk everywhere over the three days we were actually in the park. But in the end we decided her stamina probably wouldn't allow for that. Instead we rented a wheelchair each day. Whit was content to ride along between rides and little brother Liam, even joined her in the seat when he was tired. This gave Whit an easy way to get around and with a special pass, it also allowed our group special access to many of the rides in the park.

It'd been three years since our last trip to Disneyland and we were pleased to see that Whitney was big enough to ride a lot of the same rides that Melanie and I enjoy. In fact, Whit got a huge thrill out of riding everything from Splash Mountain to Thunder Mountain Railroad and even the Tower of Terror. After each ride ended she would sign "more" and "again." In fact, I think we ended up on the Tower of Terror together three times in one morning. Each time Whitney would raise her arms and laugh so hard. She's such a little thrill seeker.

Meeting the cast of Disney characters is also something Whitney has always loved. She gave hugs to all of the Disney princesses, Mickey, Minnie and many others. Our last evening in the park we had dinner at Goofy's Kitchen. It's a buffet dinner where various characters stop by your table to take pictures and visit while you eat. As we ate, Pluto stopped by and was having such a good time with Whit. Then he dashed off and came back with one of his "handlers." Disney characters aren't usually allowed to speak so Pluto brought a helper with him to the table because he wanted to ask about an ASL sign so he could tell Whitney that she is beautiful. As Pluto signed, Whitney beamed and signed thank you back and gave him a big hug.

It was so nice to get away, and the Disney folks took such good care of us. They really made the whole vacation a relaxing one in spite of our family's special needs. I'm sure we'll be headed back there soon. Whitney is already asking.

Back to School Already?

2011-08-24T11:57:00.005-06:00

The special ed classes Whitney attends are on Utah's "Year 'Round" schedule. That means Whitney's summer break is a tad on the short side. In fact, she started back to class last week.

But that didn't stop Whit from trying to lengthen out her summer by any means possible. Sunday evening Whit didn't feel like eating dinner, which happens fairly often lately. Melanie and I exchanged knowing glances. And sure enough, on Monday morning, when it came time to wake up for school, Whitney was sick to her stomach. So we got to meet Whit's new bus driver, but that was it.

Whit continued to be sick to her stomach and lethargic all through Monday, Tuesday and most of Wednesday. Melanie did what she could to push fluids into her to prevent dehydration. Whit mostly laid around the house feeling weak. Finally, by Thursday she felt well enough to go to class and begin the school year.

Thankfully, the reports we get back from her teacher have said that Whit seems to be doing well, but we're concerned with the continuing stomach sickness spells that she gets every couple of weeks. Being out sick so often causes her to miss too much! We've tried cultures to detect infections and a variety of other tests, but so far no answers. We'll just have to keep looking and sending Whitney to school in between the pukey days.

The video above is of a bit of time we spent out late one summer evening blowing bubbles.

The Wanderer

2011-08-09T16:02:00.005-06:00

Whitney is always on the go. She likes to be up and doing things all the time. She's usually the first one to get up in the morning, even beating the baby at the early riser game. She's almost always the first one up from the dinner table and she rarely sits still for an entire bedtime story.

I'm grateful she gets up and gets around so well independently. Her mobility is a great blessing that took years to develop. But it also creates some new challenges. Because Whitney wants to be on the go, she really has trouble focusing. She won't sit still when she's in class, at the dinner table or sitting on my lap to read a book. After just a few minutes she gets up and starts to wander. And she gets so upset when Melanie and I try to get her to come back and sit down.

So we're trying to find ways to keep her focused longer. Whit doesn't really like being forced to stay at the dinner table until we're through, but I think it will help her learn that important principle. Same goes for sitting with me until we're done reading the book she asked for.

We're going to try and get the folks at school on board as well. Last year she was permitted to get up from her desk in the middle of class and wander the classroom. This year, Melanie and I are going to request that the teacher and her helpers, assist Whitney in getting back to her seat at her desk.

The hope is that if this is required of her everywhere she goes, she'll gradually learn to sit still and pay attention. That's a life skill that's just as important as being able to walk on her own. Wish us luck!

Shut Ins

2011-07-25T20:40:00.008-06:00

Many special needs children have behavior traits that make going out in public a challenge or even an embarrassment. It's not that parents of special needs children are ashamed of their children. In fact it's quite the opposite. But sometimes after bad experiences, it's just easier to stay out of the public eye and avoid the stares.

Whitney has an obsession with dogs that causes problems when we go out. We love taking walks or going to the park. But we have to decide each time we go out if we have the energy to endure the inevitable tantrum that comes when she spots a dog. Often, the dog owners we encounter are kind enough to let Whit pet their dog for a bit. But eventually we have to go home or the dog's owner does. This is usually when the uncontrollable fit starts. Often Whit will scream, throw herself down, hit herself and refuse to move. And once she launches into a tantrum it's very difficult to get her calmed down again. Very often I'll just pick her up and cart her home.

The tantrum is difficult but sometimes the stares of passers-by is even more challenging. And the experiences even get worse sometimes. Various 1p36 Deletion children, including Whitney, have episodes of poop smearing. This isn't something I've ever brought up before because it's extremely uncomfortable to talk about. I'm not sure what causes this behavior but I can say how difficult it is to deal with. And it's bad enough when it happens at home. But it can happen at school, church and other public places. In fact it happened at church yesterday. And before the shocked teacher's of Whitney's little class could locate Melanie, Whit had it all over her hands, dress and even in her mouth. If you're feeling queasy after reading that last bit, it's okay. Talking about this makes my stomach churn too. Melanie was able to get Whit cleaned up and people at church are patient, but dealing with the embarrassment is probably the most difficult part.

So what's a special needs parent to do? The easiest thing would be to give up and stay home. At least there we could hide some of the troubling behavior. But Melanie and I feel strongly that nobody in our family becomes a shut in. So we will continue to get out as a family and Whitney will continue to go to school, church, birthday parties and other things that typical children get to experience. We will persevere, but we're grateful for the patience of those around us. Our family is certainly unique, but we're determined not to get shut in, no matter the cost. We'll see you out walking in the neighborhood, at the park or at church. But don't worry, we'll bring plenty of hand sanitizer and baby wipes with us!

Follow the 1p36 Deletion Annual Conference Online

2011-07-15T08:05:00.003-06:00

Last night 1p36 Deletion Support & Awareness kicked of our annual family conference. Over the weekend there will be speakers, breakout sessions and activities for attendee families. For those of us who couldn't make it, we can follow along with the speakers at 1p36dsa.org where recaps and videos will be posted.

Also, a new logo for the organization was unveiled. "The logo features the first chromosome from 1p36 Deletion Syndrome in the shape of two people. They stand side by side, hands raised together in solidarity, just like our 1p36 family stands together supporting each other. They are similar but not exactly alike just as individuals with 1p36 Deletion Syndrome share many characteristics but are still unique. The missing bands on each arm represent the missing genetic material that has brought us all together." Ken Shirtcliff, President of 1p36DSA, said.

A new video featuring many individuals affected by 1p36 Deletion Syndrome was produced for the conference. For those of us in the group it's so exciting to see our children grow up and make such great progress. You can see the video above. Whitney is at the 5:05 mark.

Thanks to everyone who has worked so hard to put together such a wonderful weekend for our families. We wish we were there with you but we're reading the recap information and learning so much.

Whitney, Vacation Fun, and Discounts

2011-07-13T12:16:00.009-06:00

We actually got away for a few days as a family last weekend. Our trip to Yellowstone was wonderful and Whitney had a great time. Visiting the geyser basins in the park requires a lot of walking along uneven trails and boardwalks. But Whit was very stable on her feet and walked a lot of it. When she felt unstable, she held the hand of a family member, but she kept on walking. We walked all over the Old Faithful area, Norris Basin and Mud Volcano and Whit just kept right on going. I'm really pleased by her endurance and mobility these days.

Whitney also understood a lot of what was going on around her while we were out. She heard us talking a lot about seeing various animals in the park, like bears, elk, deer and so on. So when we headed out on a walk our first morning, Whitney politely asked if we could go see the penguins and the tigers. Those are her favorite animals at the zoo and clearly if we were on a walk and going to see animals, we must be at the zoo! Melanie and I laughed and explained that we were going to see some different animals and Whit was satisfied. In the picture above she's signing deer. Whitney really enjoyed seeing the elk, deer, bison and the bear we managed to see in the park.

Our favorite thing about visiting national parks with Whit is that she has a special pass that the federal government issues people with permanent disabilities in order to access federal land for free. That means Whit's pass gets us into Yellowstone, other national parks and even BLM land for free. If you've got a family member with a permanent disability, you can learn more about getting a pass by visiting the USGS website. It doesn't cost anything to pick one up.

We all had a great time getting away. The pressures of doctor visits, appointments and daily care fade away when we all get to change our routine and relax for a few days. Below is a video of Whitney and our extended family having some fun in Yellowstone last week. We are all very glad we got to go.

Summertime Has Come

2011-07-01T12:02:00.004-06:00

Today is Whitney's last day of school . She's finally done with first grade and the whole family is anxious to start some summer fun. Initially, Melanie and I looked into a special summer school that's held for children who regress too much during the break, but Whitney didn't qualify. She's never really had a problem with losing abilities or knowledge over the brief summer. And besides, everyone needs a break. Even little girls who love going to school.

So during our break, we're planning on doing some vacationing and spending some quality family time together. For the last four years we've traveled as a family to attend the annual 1p36 Deletion Support & Awareness Family Conference. We've had some great experiences and learned a lot from so many wise parents and caregivers. These conferences are an absolute must for -1p36 families who haven't been to one before. They offer camaraderie and strength that you can't get everyday because this disorder is rare enough that we're all too far spread out. Gathering in a big group is a huge help to everyone who can make it.

But for the first time in half a decade, we're taking a good old family vacation together instead. We'll miss seeing our support group friends because we love them all. But this summer we've decided to load up our family wagon and head to Yellowstone National Park. We're not making an extended stay, but I think even a little time for family bonding will be nice. We've realized that while 1p36 Deletion Syndrome is a part of our lives, it doesn't define our lives. There's plenty of room in life to do what we love and we can have fun pretty much like any other family. So before the school bell tolls again, we'll be wildlife spotting, hiking, watching the thermal features and having some much-needed family fun together.

Now I've just got to find a way to carry both Whitney and Avery down Uncle Tom's Trail. Hmm, on second thought, maybe we'll skip that one this time around. Gotta save something for next trip, after all.

Ashlyn's Smile

2011-06-20T12:03:00.003-06:00

I'm glad to have the chance to share my perspective as a father of a child affected by 1p36 Deletion Syndrome. Often there are humorous things to share or useful experiences that I think might help others. So I share them here.

One of the things I have zero experience with and I hope I never do, is the loss of a child who has lived with 1p36 Deletion Syndrome. However, this is a tragedy that others have been through and some brave souls have been kind enough to share their emotions in order to strengthen the rest of us.

This brings me to Ashlyn Horry, an energetic 17 year old with 1p36 Deletion Syndrome, who I had the privilege of meeting last summer at the 1p36 Deletion Support & Awareness Conference in Salt Lake City. Ashlyn, her mother, Keva, and her brother joined us for the weekend and it was great to get to know them. They're another family going through many of the same experiences we've had at home. With one major twist. Ashlyn's father is retired NBA star Robert Horry.

This has put their family in the media spotlight through the years and they've handled it well. They founded the Ashlyn Horry Foundation, which helps children like Ashlyn and my little Whitney. But then last week, sweet Ashlyn passed away. Amid the media attention, her father wrote her a letter that has been published online. Robert's letter struck a chord with me, knowing we've walked a similar road with our daughters. If you have a few minutes, it's worth your time.

And if you feel so inclined, please make a contribution to the Ashlyn Horry Foundation or 1p36 Deletion Support & Awareness. Both organizations are working to improve the lives of children like Ashlyn and Whitney every day. Thank you. And my best to Ashlyn's family. My family will be praying for yours at this difficult time.

End of Year Talent Show

2011-06-18T16:38:00.004-06:00

Whitney's end of school year picnic and talent show was yesterday. All the teachers and aides worked very hard with the kids to get some fun musical numbers together. Whitney's favorite was the banana phone song that you can see above. You can also see from the smile on her face just how much she loves going to school. She absolutely loves playing with the other kids and learning from the wonderful teachers. And she's learning all kinds of important skills in the process. I mean, hey, now she knows all kinds of things about using fruit as a telecommunications device. ;-) Seriously though, I am glad they use music in the classroom. It's probably Whit's favorite way to learn things.

The New Norm

2011-06-10T16:16:00.003-06:00

When your child is diagnosed with some kind of disability the whole world seems like it's coming to an end. Future plans are dashed to pieces and your mind is left considering the frightening "now what" reality of life.

As time progresses, life begins to revolve around doctors appointments, therapists visits, medical equipment, special ed classes and it crowds almost everything else out. You feel a sense of panic as you try to stay afloat amid the needs of your child and the work that comes with them. You seek out support from others going through similar things for the strength to carry on.

That's how things felt for Melanie and I when Whitney was diagnosed with 1p36 Deletion Syndrome almost exactly seven years ago. But this last week I came to a very interesting realization. I've become used to and even comfortable with the life our little family has come to live.

Juggling Whitney's care is still time consuming and sometimes exhausting for Melanie and I. But we've become accustomed to it and it doesn't take the same toll on us any more. In fact, we've settled into a new norm that feels healthy. We've figured out how to stand on our own feet and the tears stopped long ago. In fact, life is pretty good most of the time.

I don't think Melanie and I can really take credit for the progress we've made. We're ordinary folks just like anyone else, but we've put one foot in front of the other and kept moving forward for so long that now it's habit. And, along the way, we've made time for evening soccer games, walks through the neighborhood, movie nights, birthday parties, family vacations and all kinds of "normal" things that fit into our lives just fine.

I mention this not to say, "We've arrived!" But instead, to make sure those of you who are out there reading know that it gets better. You may be in the thick of a very painful and difficult adjustment because of your own child's diagnosis. But if you can just keep moving forward, taking it one day at a time, someday, you'll wake up and realize that you and your special needs child are doing just fine. In fact, before you know it, you'll settle into a new norm and you'll be enjoying life. Don't give up hope. Mark my words. You'll get there!

Field Day

2011-06-01T11:32:00.005-06:00

Each year all the special ed classes gather at one of the local high schools in the district for a field day competition. Teachers and student volunteers help the special ed students participate in all kinds of different events. Due to the rainy weather, this year's competition was held indoors but that didn't dampen the contenders' spirits.

Whitney competed in several events and even got to win some ribbons. She got an honorable mention in the fifty yard dash. She may not be able to really run yet, but she's still very fast. And she got a ribbon in the softball toss once the volunteers convinced her she couldn't just hang on to the ball. Best of all, she won first place in the long jump. How does a girl who can't jump win a long jump competition? Easy. Put her up against two other students who are still using walkers.

Seriously though, all the students got to win an award of some kind and each of them had a great time participating in the events. Kids with special needs are often left watching from the sidelines at an event of this kind. So I'm grateful to the school district and all the volunteers who centered the field day around these special kids. It put a huge smile on my little girl's face.

The Illness Factor

2011-05-20T12:18:00.003-06:00

During Whitney's month-long break from school in April I was determined to see if there was any link to her health. My thought was that maybe because she was home more she'd be exposed to less stuff and be healthier.

I really wish things were that simple. Whitney still went plenty of places even though she wasn't going to school during those few weeks. And she had at least one trip to the doctors during that time period as well. She continues to have ear infections but a bigger problem has been stomach flu.

Whitney has had an upset stomach one day each week for the last three weeks. The first episode happened while she was out of school and the next two times cost her a day of school each time. Melanie and I are not sure whether it's the same bug or something else she's been eating or what. Luckily each time she's gotten sick she's been at home. And each time she's had the sense to get out of bed and find us before she's gotten sick. That's a huge improvement over the days when she would be sick to her stomach and then just lay in bed with it until morning when we'd discover her there.

So the questions remain. What has been making Whit so sick so often? And how can we fix things? She's missing school almost a day a week at this point and she's so sad when she can't go.

Maybe we'll start spraying her down with Lysol before meals or give her baths in hand sanitizer. Anything to keep her healthy and happy for longer periods of time. Anyone have some more sane approaches to keeping my little girl healthy without cutting her off from the world?

Teacher Appreciation

2011-05-13T15:12:00.002-06:00

I wonder if I would be anxious to get out of bed in the morning if I knew my workday would include being bitten, drooled on and possibly even pooped on before I was through. I suspect all of these things are simply a regular day at the office for special education teachers around the world. It was teacher appreciation week last week in our school district and it got me thinking about the sacrifices special ed professionals make to assist children like my little Whitney each day.

Their work is anything but glamorous but it means the world to parents like Melanie and I. In spite of the difficulties I mentioned earlier, there are also some amazingly rewarding moments. I remember one day when Whitney's physical therapy teacher called home to report that Whitney had taken her first steps. We shed tears of joy together that day. And I know there must be immense joy in seeing little ones with special challenges make so much progress throughout the school year.

But that joy doesn't come without sacrifice. In addition to the physical indignities, these invaluable individuals who do so much for our children don't get compensated the way they deserve. I wish I knew how best to reward individuals who have worked so hard to help my child at school. At the very least, let me issue this heartfelt thank you to all who have helped Whitney make it so far in her educational career. We are very grateful!

Talking with iPad and Proloquo2Go

2011-05-04T21:45:00.003-06:00

Some good friends were kind enough to let us borrow their iPad with Proloquo2Go speech software installed. (I know! Great friends!) Melanie and I have been trying to give Whit a chance to try the software and see if it fits her.

I really like that the you can tell the software how many buttons you want per screen and make them bigger or smaller depending on the child's need. You can also add any vocabulary you like since the software uses text to speech to pronounce the word. You just type it in and Proloquo2Go knows how to say it.

However, the text to speech may be the biggest turn-off for some users. The voices are pretty customizable, but they're not quite human. If that's a concern for you, this may not be the direction you want to go.

The computer voice didn't bother me much and the fact that the software works on sleek, light Apple hardware far outweighs any negatives I saw. The biggest issue we're fighting with Whitney now is that she uses the software as a toy instead of really trying to communicate. I think it's going to take some serious work to get her past that. But we're willing to give it a shot.

Above is a short video of Whitney talking about foods using Proloquo2Go. She's mastered navigation within the software after just a few hours of practice. I'm pleased with how confident she's getting.

Perspective

2011-04-22T12:09:00.004-06:00

Lately some of Whitney's obsessions have been getting me down. I have to keep any and all printed papers behind a locked door or on top of my refrigerator if I don't want Whit to find it, tear it into pieces and then randomly eat some of the pieces. It makes me so frustrated. Whitney has torn up rolls of stamps, bills, countless books and even DVD cases. I'm one who's overly sensitive about keeping my stuff "nice." and it's extremely hard on my attitude because of Whitney's obsession with folding, tearing and chewing.

But sometimes a little perspective really helps me see things for what they are. This past week I was reviewing old posts on this site for broken links and missing videos and ran across what I wrote on November first, over five years ago. It was Whitney's first mess and I was so proud. Whitney was two at the time. And she dragged herself across the floor to reach the VHS tapes and scattered them across the room. This was a big deal. Melanie and I practically had a party.

Now, at the age of seven, Whitney can walk and nearly run. She can reach any counter, tabletop or shelf in the house. And she does it with confidence. She has come so far. Sometimes this takes a toll on keeping my stuff neat. These circumstances can be seen in a positive light or a negative light. But a healthy dose of perspective helps the positive shine a lot brighter.

Now, has anyone seen this month's power bill? I swear it came in the mail just the other day...

Spring Time Off Track

2011-04-13T12:04:00.007-06:00

Here in Utah where there are a whole bunch more children than there are seats in classrooms, school districts have taken up year round school. This involves a number of children attending different schedules, or tracks, that rotate using the classrooms. The result of this rotation is vacation time for the kids during unusual times of the school year.

Whitney is currently off track right now and will be for quite a few weeks once a week for spring break is factored in as well. This is tough for Whit because she misses getting out of the house and interacting with her friends at school. And I'd like to think that she misses learning new things as well. (Although she might never admit that.) But I've got a couple of things I'd like to work on during the break so it won't just be idle time.

First off, I really want Whitney to begin getting familiar with the Proloquo2Go software on the iPad. I'm hoping to have some time to practice with her while she's off school. And maybe Melanie and I can even get her enough practice time that she can use it in class when she goes back next month. We'll need to work together to get folders of buttons organized for the things Whit likes to say and then get her to actually use them, but I think we can pull it off. I'll make sure to report back on her progress.

Then next thing I'm hoping to prove is that Whitney's health is largely tied to the bugs she encounters at school. Whitney has continued to have a perpetual runny nose and cold. And while it could be allergies or sinus problems (we're checking those out too) my thought is that she's unhealthy because she spends so much time on the floor at school and then she constantly places her hands in her mouth. This is putting her in contact with all kinds of germs and I can't really control that at school. But now we can take the school exposure out of the equation for a few weeks and see what happens. If she's healthier then than she is now, we know we've found one of the major factors in her health. So here's hoping it works.

Of course, spring is also coming and being out of school will mean more than projects and experiments. I'm sure we'll also go explore the zoo and do some other fun things as a family. A little break from school will be productive and fun too.

Assistive Communication: A Parent's Perspective

2011-04-05T11:33:00.008-06:00

As a parent of a non-verbal child I've become familiar with some interesting alternative forms of communication. Melanie and I have done the sign language thing with Whitney with quite a bit of success. But sign language doesn't get Whitney very far outside of the family. Melanie and I have felt like Whitney may need something new to communicate with and make friends with kids her age.

And so we've been learning about assistive communication devices. Basically, they are electronic boxes with varying numbers of buttons that each speak a word or phrase. And in fact Whitney has been using one device called a Go Talk 32 since January.

Go Talk devices are made by the Attainment Company. They've been around since the 70s building and selling things like this to help people communicate. Today, $330 can purchase a Go Talk 32. It's capable of being programmed to say 163 different phrases so long as they fit in the 27 minutes of recording time available. Each phrase is mapped to a picture in a grid laid out on sheets of paper. The sheets of paper are then inserted into the side of the device to create the buttons you can see in the picture. The Go Talk is made of durable plastic, has a carrying handle and runs on a couple of AA batteries.

In the time that Whitney has used a Go Talk she's been limited to a single sheet at a time unless someone changes it for her because the sheets are too difficult to change by herself. Her teacher has felt like Whit is limited in what she can say, and has gone off looking for other solutions. Simply put, the Go Talk is inexpensive but is not flexible enough to say what Whitney would like to.

Which brings us to the new device that the school sent home yesterday. This monster is the DynaVox M3. It replaces the troublesome sheets of paper with a touch screen that presents images on buttons that represent phrases. The hope is that this device will will allow Whitney more flexibility in her communication. Its manufacturer, DynaVox Mayer-Johnson, also reports that is can interface with the internet and various telephones. This is all well and good, but the M3 weighs almost five pounds and has a six hour rechargeable battery. That's right! It weighs more than a half gallon of water and it won't last much past lunch time without being plugged in! So for at least those two reasons Whitney can't even carry the thing around with her. Not what I'd call liberating. Oh, and it costs $3,955 depending on the dealer you purchase one from. So even if your insurance covers the device, an 80/20 coinsurance split makes a family's cost $791 plus applicable taxes. This device is what I'd call a Total Fail for my little girl.

I don't rant often because I don't feel it does anyone any good. But just in case the manufacturers of these devices and similar ones drop by, can I just say, seriously?!! These things are too limiting or they are too heavy and most of all too expensive for what you get. You are failing the individuals you are trying to help. Go back to the drawing board or get out of the hardware design business altogether! There I feel better.

A number of families in our support group have started a new approach to assistive communication. Get the hardware from one vendor and the software from another. In fact, there's someone who builds svelte touch screen hardware that costs a bit less than the M3 even after insurance. It weighs a shade over a pound, has a battery that lasts over 10 hours and is a third of an inch thick. You guessed it, the Apple iPad. Sure. You'll need a sturdy case, but even then, it'll be lighter then a jug of water.

Then you just need some software. And it's got to be good software. Many parents are raving about Proloquo2Go. It ships with 8,000 pictures and phrases and can be expanded to include more. It runs on the iPad or even an iPod Touch to be more portable. Proloquo2Go partners even sell the hardware and software together in bundles. That sounds pretty good.

This combo may not be the perfect solution for everyone. In fact I'm still concerned about a few things with Whitney. Will it be too complex for her to learn? Will a good case be enough to protect an iPad from the rigors of first grade? And will she end up playing Angry Birds instead of listening in class? I'll make sure we post the answers because I think this is the route we're looking to go for Whitney's future communication needs.

Parent Teacher Conference

2011-03-31T11:43:00.003-06:00

Melanie and I got to sit down recently for a parent teacher conference. Whitney's teacher gave us a bunch of updates that mostly made us really happy. For starters, Whitney has continued to blossom socially with the other kids. She's made friends with a group of several kids in the typical class that all like to come and find Whitney at recess and like to help her go play.

Whit's also made a little friend in her cluster class. She's a little girl in a wheel chair that sits at a desk near Whit. Whitney usually greets her with a special hug when they all arrive for class in the morning.

Academics are much harder to measure due to Whit's being non-verbal. The teachers feel Whitney recognizes quite a few sight words but they don't know how many because she can't always sign the word she sees even when she knows it. Whitney knows her letters, but her spelling skills are untested because she really can't write yet.

But she is improving. Melanie and I were nearly brought to tears when we were told they can hand Whitney a crayon and a piece of paper with her name written on it and Whitney will focus enough to be able to trace the letters of her name without any additional help. This may not seem like a big breakthrough, but trust me. It's a big deal. Whit used to show no interest in writing or drawing at all.

Potty training is really going slowly. The aides take Whit to the potty every half hour to an hour, but Whitney's still not showing much interest. Occasionally, she'll be dry when they take her and they reward her for that, but it's going to be a while.

Whitney's Go Talk speech device is proving to be very limited for the things they'd like her to be able to say. We're working with the folks at school to come up with a better solution. We all feel like Whit has got a lot on her mind, but can't express it well with the tools we've given her so far.

We had actually hoped that Whitney would be in the same classroom with the same teachers again next year, but looking at class sizes and Whit's progress, she'll be moving to the other cluster class at her school. Melanie and I have mixed feelings about this because things have gone so well this past year, we're told the new teacher is also excellent and we'll look forward to meeting her and the aides this summer.

Screaming on the Bus

2011-03-14T16:39:00.006-06:00

Sometimes individuals with special needs will do things in public that make "normal" people feel a tad uncomfortable. This has happened with Whitney on occasion and while I've never really been embarrassed, I've recently begun to really find humor in it.

Whitney got a new bus driver a couple weeks back. He's a nice enough guy but he's never driven a route that picks up kids for special needs classes. Needless to say he's had a few new experiences over the last couple weeks.

One day when the bus picked Whit up at the house, Melanie mentioned that Whitney enjoys listening to music on the ride to school. It helps pass the time during what is almost an hour ride. The driver was worried about this because he might not be able to hear the kids if something bad happened.

Finally last week the driver realized that the kids were doing great and decided to give the radio a try. Later that day, when he dropped Whitney off at the house, the driver was concerned. He asked Melanie if maybe she could send a toy for Whit to play with on the bus because she had been screaming for most of the ride.

Melanie just smiled knowingly and agreed to send a toy. She wasn't concerned about the screaming because we know Whitney loves the bus. She's told us so on several occasions. The screaming the bus driver had heard was actually Whitney happily singing along to the music on the ride home.

Finally Lost That Tooth

2011-03-06T09:08:00.003-07:00

I wrote about Whit's wobbly tooth a couple weeks back. Then shortly afterward she was having a bath. Melanie swears Whit still had the tooth when she put her in the bath, but when it came time to get out and get dry, there was only a hole instead.

At this point we're not sure if she swallowed it or lost it in the tub. If that's the case it probably went down the drain. Either way her first little lost tooth is really lost. It's amazing how fast my little girl is growing up.

Also, it looks like the adult tooth coming in is pretty big, but if Whit keeps growing my hope is that it will fit in place just fine.

Dads and Labelled Children

2011-02-23T13:00:00.006-07:00

I've read several sources that say fathers of children with special needs are often the hardest hit when a diagnosis is reached. To be sure, "diagnosis day" is hard on everyone, but dads seem to take it extra hard.

Some say it has to do with the fact that fathers have difficulty acknowledging the label their child has been given. I happen to believe this, because I went through it myself. I went through the first few months of Whitney's life doing the best I could to pretend that nothing was wrong. As she missed milestones and my wife's concerns grew, I tried to look past it all and convince myself that everything was fine.

It's been years since then and I worked my way past that difficulty a long time ago, but I see the same pattern in the lives of other dads. Do we feel like having a "labelled child" somehow reflects badly on us as men? Do we feel like we are somehow weakened in others' eyes because our child looks or acts different than the other kids?

I hope not. But if this is the case, may I suggest that the most amazing displays of true manliness I've ever seen were put on by fathers of special needs children who are active in their kids lives. Involved special needs dads are a rarity. A large number of dads find it easier to withdraw. Many parents of special needs children divorce. But it doesn't have to be that way.

If you're the father of a child affected by 1p36 Deletion Syndrome, Autism, Down Syndrome or whatever, you can be involved. It might be difficult at first, but you won't find anything on earth that is more rewarding. Trust me, I've been there. Start by taking an interest in your child's therapy or schooling. What are his or her goals and desires? How can you help achieve them? Pitch in with your little one's care. Spend time with your child just being together.

Before you know it, you'll realize you've completely forgotten those "diagnosis day" feelings and how others view you. You'll have become be the kind of dad whose special needs child greets them at the door with a big hug after a long day's work.

Remember, no one else can completely fulfill the role you have as a dad. And dad's posess a special place in the hearts of "labelled children."

Tooth Time!

2011-02-15T12:31:00.003-07:00

Other than brushing Whitney's teeth we haven't given her mouth near as much attention as her ears, eyes, heart and other high priority parts. Her baby teeth all fit in her little mouth and in fact a couple of her top teeth never showed, further allowing the others the room they needed. And that's been the status quo for years.

But Whitney's got her very first loose tooth. It's nearly out. Just hanging by a thread. And yesterday, when Melanie took a peak, she could see the new, adult tooth coming in behind it. So we've got to get that baby tooth out, which will probably be traumatic given, Whitney's oral aversion. Hopefully, no one will lose any fingers in the process. But we're worried about something else too. The adult tooth that's starting to poke through is actually larger than the one it replaces.

I'm a little concerned that all these new adult teeth aren't going to fit very well in my little girl's mouth. Whitney's dentist has said she'll likely be a candidate for some orthodontic work to ensure she's able to bite and chew once the adult teeth come in. But I'm pretty worried about it since Whitney probably won't understand why we'll be hurting her mouth.

I guess we'll just take things as they come. At least Whitney can look forward to her first visit from the tooth fairy in the next couple of days.

Stuck on Potty Training

2011-02-02T12:32:00.004-07:00

Our efforts to get Whitney out of diapers continue. We're not able to work with her on it all the time though. Melanie will focus intently on taking Whitney to the bathroom every 15 minutes or half hour for a morning at a time. Much more than a morning and everything else gets too neglected. But even just a potty-focused morning here and there has begun to make an impression of some kind on Whitney's mind.

One day this past week, Whitney was downstairs while Melanie was doing some things elsewhere in the house. When she went to check in on Whitney after a few minutes, the picture above is what she found. Whit must have felt it was time to head to the bathroom. But instead of going to find Melanie, she took matters into her own hands. When Melanie found her, Whit was stuck in the bowl, unable to pull herself back out but grinning with pride for having gotten there all by herself.

We laughed and laughed! We've still got a few things to teach her but certainly some of the potty training is beginning to sink in.

Whitney's New Talker

2011-01-26T12:48:00.002-07:00

Last week Melanie dropped by Whitney's school for a while to receive some training on Whit's new assistive communication device. That way Whitney can bring it home on loan for the evenings and weekends and we can keep working with her.

The device itself is a simple board with a grid of pictures that Whitney can press to express different things. Whit's speech teacher programmed the device to say basic things like "yes," "no," "I want," "crackers," "Signing Time," "Blues Clues," "I'm mad," "I have to go the the bathroom," etc. Then she added a picture for each one so Whitney would know what each square says.

Whitney's birthday was last week and we had a few of the neighborhood kids over for a small party. So we had a few birthday phrases added to Whit's "talker." I shot the video above as Whit was practicing saying them so she'd be ready for the party.

So far it's her talker is still more of a toy than a communication method, but we're going to work with her consistently. Maybe someday this device will be a way that Whit will be able to open her circle of friends up to people who don't understand her signs or limited vocalizations. It's wonderful to have technology available today that makes the miracle of communication so much easier.

Day 1 of the Potty Training Adventure: Lots of Laundry

2011-01-20T12:27:00.004-07:00

Due to the holiday on Monday and Whitney being out sick with a runny nose on Tuesday, yesterday was the first day of the grand potty training experiment at school. Her teachers asked Melanie and I to put Whitney in a diaper on the bus and to pack plenty of clean underwear and pants. Always the conscientious parent, Melanie packed Whit's bag with 6 pairs of jeans and 21 pairs of panties featuring Disney Princesses, Dora the Explorer, Elmo etc.

Good thing she did, too. Whit's teachers put her in underwear when she arrived at school and put her on the potty every half hour all day. Trouble was, each time, Whitney's underwear was wet and she never actually went on the potty. Not once. Melanie continued working with Whit when she got home from school and had about the same results. I think I actually sighed relief when I put Whit in a diaper for bed time. Then it was off to wash the load of underwear and pants we'd used throughout the day.

I have faith things will get better. I just hope it doesn't take too long. I'll report back with progress soon. If not, maybe I'll write a book about how not to potty train your seven-year-old. Wonder how it would sell...

Go Time for Potty Training!

2011-01-12T12:28:00.003-07:00

A little over three years ago I wrote a post about our efforts to start potty training Whitney. And I've never mentioned it again. Mainly because we've made very little progress during that entire time. Even when Whit's little brother, Liam, got out of diapers, she didn't seem motivated.

But lack of motivation doesn't seem to stop the hard working folks at Whitney's elementary school. During the school day they've been taking Whit to the bathroom as often as every half hour to help her succeed at going on the potty instead of in her diaper. It's hard work but I think it's starting to yield some results.

One morning this week, Whit woke up with a dry diaper so Melanie stuck her on the potty and she went all by herself. We praised her like crazy and she seemed very pleased.

The teachers at school report that Whitney is very consistent at asking to be changed the minute her diaper is wet. She's a very clean little girl and that might be enough of a factor to make potty training work now, even though we've failed in the past.

So now it's go time. In a parent-teacher conference this morning, we agreed to send Whit to school in underwear instead of diapers all next week. It'll require a lot of laundry and a lot of backup clothes each day, but I'm all for it. We've got to make the leap sometime. Hopefully, we'll see some good results. I really admire the staff at school for being willing to help us with such a dirty, but important job.

Next, up Melanie is going to take Whitney shopping to pick out some underwear that she'll be motivated to keep dry. That should help her as well. I'll report back on how things go. Wish us luck!

Whitney's 2010 in Review

2011-01-03T12:40:00.004-07:00

2010 was an amazing year of progress for Whitney. I was just looking back at all the milestones Whitney hit and all the adventures we've had. Whit started 2010 by showing us she could take the stairs all by herself. Then there was her worst tantrum ever where she had to get stitches in her eyebrow after hitting her head on a sharp toy. Lessons are sometimes tough to learn, but she doesn't hit her head on things when she's mad anymore, so that's progress.

In March, Whit started heading out to recess with the typical kids in her grade and loving it. This continues, by the way, and now the teacher's main concern is that Whit is having so much fun playing with the other kids that she might get careless and injure herself. That's a far cry from the little girl that used to rarely interact with the other kids during play time.

Then of course there were the continuing battles with ear infections and illness. Melanie and I really hope getting her tonsils out will help with Whit's overall health and ability to enjoy life.

In 2010, Whit lost her hearing aids and got a great new pair that she loves. She's back to wearing them full time as of last week since her recovery from surgery went well. In fact she's even been asking for them because she knows they help so much.

In late July, we hosted a ton of Whitney's friends at the annual 1p36 Deletion Support & Awareness Conference. It was great to see so many families and so many children like Whit who are making great progress. These children just don't care what limits doctors try to put on them. They surprise us with new accomplishments almost daily.

Then it was back to school and new adventures in first grade. Whitney learned to love being at school all day and she particularly loves school lunch.

In September, Whitney got a new baby sister. Baby Avery's arrival turned the world upside down for all of us but has been a lot of fun. Whitney loves to help out with all the baby chores. Especially patting Avery's back when it's time for a burp.

One of my very favorite of Whitney's 2010 accomplishments is her verbalizing. She now regularly says Uh-oh, uh-huh and my favorite Aaa-Eee. Which is her way of shouting, "Daddy!" I get this greeting a lot of nights when I get home from work. Whit knows it's an automatic hug from me. How can a dad resist?

It's been a great year of wonderful progress. I'm grateful that my little girl allows me along for the ride. She teaches me so many things about patience, persistence and determination. I can't wait to see what she teaches me in 2011. Happy New Year, everyone!

Tonsillectomy Success

2010-12-21T12:15:00.005-07:00

Whitney was finally healthy enough to have her tonsils taken out last Monday. She had to be to the hospital by 2:30 in the afternoon for the pre-op physical. Thankfully, she didn't have a fever and her lungs were clear. Those were the requirements we were worried about since she'd had a cold and/or flu for the last month.

We visited a bit with the ENT who did the work before Whitney went in. He reassured us that this would be a big help to her. Whitney had some Valium to calm her before going into the OR. This made her happy to see everyone. Even the nurses and her ENT got a smile and a wave. Usually her reaction isn't quite as welcoming. Poor kid's just been poked and prodded too much over the years.

The surgery itself took about 45 minutes. During that time the ENT removed her tonsils, ensured Whitney's adenoids hadn't regrown and placed a new tube in her right eardrum. Everything went smoothly and before we knew it, Whitney was in a recovery room sleeping soundly.

The nurse explained to me that after a tonsillectomy, the wounds are cauterized instead of stitched and it made me think just how much Whit's throat was going to hurt when she woke up. Whit was pretty agitated when she came to. Once efforts to give her some Lortab orally failed, the nurse gave her some in her IV and Whitney calmed down nicely.

Because Whitney's so small and frail the plan was to keep her hospitalized overnight to ensure there wasn't any continuing bleeding and that she was taking food and fluids orally. So Tuesday morning Whitney began taking liquids and some slushy via mouth. She took her Lortab dose orally as well. That satisfied the requirements for discharge and Whit was home just after lunchtime.

Whitney's improvement over the last week has been slow. She's been very reluctant to eat or drink because of the pain. Melanie has helped keep her hydrated using an oral syringe. Finally, in the last couple of days, Whit's felt comfortable enough that she's drinking from a glass again. And she's feeding herself some soft foods. She's getting sick of them though and keeps trying to sneak a chip or carrot at meal times when we're not looking. Hopefully, she'll be back to the foods she loves soon.

The doctors told us that it would be a two week recovery and I believe she's pretty well on target. Tylenol and ibuprofen seem to be managing her pain well enough now. The good news is that I can tell a huge difference in how well Whitney is breathing. Her airways are much more open and clear. This is leading to more restful sleep and hopefully a few less illnesses as well. All in all, we're grateful the experience is behind us and thankful Whitney's recovery has been smooth. I'm looking forward to better health for her on the way.

Thanks, everyone, for all the well wishes during the process of getting Whit ready for surgery and for all the help with Whitney and our other kids since then.

Too Sick for Surgery

2010-12-06T10:41:00.003-07:00

Hi Folks! Just a quick update. Today was supposed to be Whitney's tonsillectomy surgery. Melanie and I were pretty excited about getting things done and finally getting Whitney healthy again.

Unfortunately, she's got a bad case of stomach flu all of the sudden. That's a big concern because of the risk of aspiration while she's sedated. Plus she's just feeling pretty lousy overall. So we'll be rescheduling and making another attempt soon. We'll keep you posted.

To the Theatre

2010-12-02T12:39:00.003-07:00

Whitney and her first grade, special needs class were invited to the Capitol Theatre to attend a special performance of The Nutcracker ballet yesterday. The note we received in Whitney's bag last week told us about the trip and suggested best dress attire. So Whitney wore a little black and red dress to school. And Melanie did her hair up all special.

Since it was a school field trip, Melanie and I weren't there. We had to rely on information from Whitney's teachers about how the trip went. But that wasn't hard. Melanie got a call from Whit's teacher later yesterday afternoon. She said Whitney was the best behaved of the bunch. And I'm so glad. I can only imagine how much work it took to keep track of eight special needs youngsters in a place like Capitol Theatre. Luckily Whitney was enthralled with the music and the dancers. She sat mesmerized the entire time while clapping and laughing along with the music.

When I arrived home from work last night Whitney was excitedly signing "dance" over and over to tell me all about her exciting day. I'm pleased she was well behaved and even happier to know that she had a good time. I guess we'll have to take our little theater goer on more outings like that soon.

Tonsils? Yer Outta There!

2010-11-18T12:30:00.005-07:00

Whitney had an important doctor visit yesterday. She has been on various antibiotics for ear infections and a sore throat that just never seem to clear up. Poor Whit's been sick for weeks on end with only a short reprieve here and there. So it was time to go see the Ear, Nose and Throat Specialist.

You'll remember it's not been too long since Whitney was last in for tubes to allow her ears to drain. On that occasion the ENT specialist also removed Whitney's adenoids. Having your adenoids out usually helps your ears and sinuses to drain. Unfortunately, it hasn't done much to help Whit. In fact, her ENT says that removing her adenoids has really only had one affect. It's made Whit's tonsil situation worse. They're enlarged and painful and need to come out.

So early next month we'll head back to our trusty friend, the local children's hospital and have Whitney's tonsils removed. The ENT will also place a pair of permanent tubes in Whitney's ears to give them a better chance of draining. The hope is that this will finally allow Whit to be healthier and hear better. Anything to improve my little lady's health.

Home Visit

2010-11-10T12:36:00.004-07:00

Over the last few weeks, while Whitney was off track from first grade, her teacher dropped by for a visit. This was the first time something like this has taken place in our home since early intervention days. As it turns out, Whit's teacher tries to visit the home of each of her students toward the beginning of the school year.

Whitney was so excited to see her teacher in our house, but looked a little confused. It was interesting, because Whit did a few things her teacher had never seen before. Whit seems to have "home behaviors" and "school behaviors." So teacher got her first patented Whitney Hanson nose tweak. I'm grateful that's not become a school behavior yet.

In addition to seeing Whitney at home, her teacher wanted to talk about concerns and aspirations we have. We chatted for about a half an hour about potty training, reading, social interaction, augmentative speech devices and so on. I hope we didn't overwhelm her, but she did ask. We also coordinated about things we see working well, like school lunches and avoiding Whit's paper tearing obsession.

It's really nice to have someone who's so engaged with us as parents. So many times when special needs students have something that needs addressing, it's the parents chasing the teacher down. This was a very pleasant role reversal.

I Can Help!

2010-11-01T12:20:00.003-06:00

As Whitney continues to become more socially aware, Melanie and I have noticed some new helpful behavior. As part of our morning routine before school, Whitney helps me make the bed. It's tricky for her to stand and pull up the sheets and blankets, so it's a team effort for the two of us. But the great thing is that she does it voluntarily. I don't ever have to ask her. She really wants to help out.

We've seen other signs of Whitney looking for ways to help out too. My favorite is with baby Avery at feeding time. Whitney has observed that after eating, Avery needs to be patted on the back, sometimes for quite a while, in order to burp. So Whitney will come over, move Melanie's hand and begin patting Avery's back. She gets so excited that she can actually help out with the baby. It's really fun to watch. Melanie holds Avery low enough that Whit can reach. And Whit carefully pats her on the back until the burp comes.

It's nice to have a little helper around the house and I'm always grateful for Whitney's good attitude about her siblings.

Uh-oh

2010-10-22T11:53:00.003-06:00

Last night I was downstairs with Whitney setting up a show for her to watch for a few minutes. I must have hit the wrong button on the remote or something because the whole TV screen filled with snow. I looked at Whitney and said, "Uh-Oh!"

Whitney smiled and said, "Uh-Oh," right back at me. She said it confidently and perfectly and I couldn't help but smile.

Over six years ago when Melanie and I were still adjusting to Whitney's diagnosis and care schedule, we met with the folks in the local Early Intervention program to set Whit's first group of goals. Melanie and I considered different physical and speech goals. We were so new and had been told such limiting things by the doctors. I was trying to think of words that maybe in a year or so Whitney could learn to say. I've always thought it's funny when a toddler drops something and says, "Uh-Oh." And I thought it would be fun to have Whitney learn this as one of her first words. So I think Whitney's first Individual Education Plan actually had "learn the word uh-oh" listed. The therapist probably put it down just to humor me as a newbie special needs parent. As we learned more about 1p36 Deletion Syndrome and all it would mean to Whitney and her progress, other goals became much more important. But I never really forgot about that one first goal.

So as Whitney and I said uh-oh back and forth to each other last night I reflected on how much we've all learned and how far we've come. Whitney now expresses herself very effectively using ASL, which is something I hadn't even begun to consider back then. She walks all by herself even though the doctors told us she never would. She goes to school, plays with her friends, loves to read books (with me reading of course). She even paints! She's come so far and done so much.

And last night she told me "uh-oh." How far we've come, kiddo. How far we've truly come.

School Lunch

2010-10-08T12:58:00.004-06:00

The number one concern on my mind when Whit started first grade this fall was if she'd eat well at school and thus survive the day without starving. Melanie and I both felt the best way to ensure that Whitney ate well was to start packing lunches full of familiar foods Whitney enjoys at home.

Silly Mom and Dad. I don't know why I thought that would work. Before we knew it, Whitney's lunches were coming home virtually untouched. She would arrive in the afternoons totally starving and nothing we did seemed to help. Our frustration and concern kept getting worse.

Then one day we got a note home from Whit's teacher that Whitney wouldn't eat her lunch again, but she got up from the table and walked to another student's school lunch and stole a tater tot to eat. Huh, well, that certainly was a surprise.

So the next day Melanie and I sent a couple dollars with Whitney to buy school lunch instead of sending a brown bag lunch from home. The results were amazing! Her teacher reported that Whitney was so excited to stand in the lunch line with the other kids. She got her own tray of sweet and sour chicken with rice which is a pretty challenging and unfamiliar food for Whit. She ate some of the chicken and all of the rice! That's way more eating than her usual couple of nibbles from her favorite sandwich and chips.

So Melanie and I don't have to pack a lunch in the mornings anymore, and Whitney eats better than ever by going through the lunch line. Some days will go better than ever, but what a relief to find the secret to making her eat at school.

Raising Whitney has filled our life with the unexpected. Just when we think we know what's best for her, she goes and does what she wants and it turns out even better.

About the picture: Whitney's 2010 school photo

Baby Sister Arrives

2010-09-30T15:52:00.005-06:00

Whitney's new little baby sister, Avery, arrived this week. She weighed 8 pounds, which is over two pounds heavier than Whitney when she was born. But they were both 19 inches long. Needless to say, Avery has more rolls in her arms and chub in her cheeks.

Whitney keeps asking to pet Avery and tells her teacher all about "baby" and "cry" at school. She's very excited. This morning Whit was up at 4 am and asking to see the baby. That, coupled with Avery needing to eat in the early morning hours, is making for some tired parents. So hopefully the newness wears off soon.

I'm spending a few days off work so I can be a full-time dad. I've been trying to get Whit ready for school myself as well as picking up a few of the household chores. The ones I know how to do, at least. It's fun to be around the family more than usual. And even more fun to celebrate the arrival of a new little daughter.

School Morning Adventures

2010-09-15T12:07:00.003-06:00

Melanie and I have fallen into a pretty good rhythm in the mornings to help each other get Whitney off to school. Getting a special needs child ready for school has a few interesting twists compared to the way a typical child gets up and gets going. Because of that, it takes two of us, Melanie and I, to make it happen smoothly.

On a school morning, Melanie is the one who actually works on getting Whit up and out of bed. Most days this isn't too hard. Whitney has always been a morning person. But by the end of the week, Whit begins pushing Melanie gently away when she comes in. That's the only way she's got of saying, "Five more minutes, Mom!" School is still pretty tiring for her.

Then it's time to get dressed. Whit is learning to put on clothes by herself, but she's got a long way to go. Especially, when there's a time limit involved. So Melanie helps Whit pick her clothes and get them on.

Meanwhile, my job begins in the kitchen. My mother was amazingly dedicated to getting me off to school with a hot meal every day. I feel like it made a big difference to me all those years. So I'm trying to do the same thing for Whit. I rotate between all the typical breakfast foods that I know Whitney will eat reasonably well. I make pancakes, waffles, French toast or eggs and bacon. And I'm getting so I can time the meal to Whitney's being dressed and ready to eat. The best thing about all this is that Melanie, Whitney and I all get to enjoy a nice cooked breakfast together most school days.

Whit still takes a bit of time to eat, so Melanie is able to finish packing up a lunch for Whit while she polishes off her eggs. Whitney's not a great lunch eater and we haven't felt like pressing our luck with unfamiliar school cafeteria foods. Instead Whitney gets her usual assortment of lunch meat, cheese, carrots, chips, crackers, fruit snack packs and so on.

At this point, I head off to the office while Whitney blows me kisses from the table. After breakfast, Melanie works on Whitney's hair and then it's off to the bus. Whit can climb the steps of the bus with just a little help. She gets buckled into her usual seat. The latch now has a child proof cover on it so Whit doesn't get up and wander on the way to school. Melanie gives her the usual lecture about her hearing aids. "Don't touch." Whitney mimics in her usual way.

Then it's off to school for the day. I'm grateful for teamwork as we get things ready each morning, since there are some things Whit just can't do for herself yet. I'm also really grateful that Whit likes to go to school so much because she cooperates as much as she can. She knows she gets to go someplace fun where she can be with her friends.

Step it up, Dad

2010-09-07T12:08:00.003-06:00

Last night after a fun day playing with the kids and spending time with family I settled down with Melanie to watch a movie. We rented Extraordinary Measures about a family with two severely disabled children who don't have long to live. The father, played by Brendan Fraser, does everything he possibly can to push for the development of new medicines to treat his children's disease and grant them a new lease on life.

The movie wasn't Academy Award material, but having lived the feelings from many of the scenes in the show, it made me want to do more to help my own daughter live to her full potential. There's no simple injection that can cure the many symptoms of 1p36 Deletion Syndrome. So I can't push for that, but I can put forth more effort to make sure awareness in the medical community is raised. I can work to help more children be diagnosed and cared for earlier in their lives.

And at home, I can be a more focused dad working hard to support Whitney as she works on speaking, learning to read and knowing her numbers. I can go out of my way to be there for important therapy visits and make sure she's getting everything she can out of school each day.

Being a dad of a special needs child isn't glamorous. (One day last week I wore a mess of scrambled eggs on my shirt at work because I hugged Whit on the way out the door.) It's an exhausting job, but I can do it better. I feel like I need to give it all I have, because I never know how long I'll have the privilege. Every moment must count.

*********************************************

Speaking of raising awareness, please don't forget 1p36 Deletion Support & Awareness is still in the running for a $50,000 grant from Pepsi Refresh. The organization didn't win in August, but we did well enough that we got carried over to the September competition. You can vote once each day for 1p36 DSA by visiting refresheverything.com/1p36. To make the job easier I've put a vote link on the right side of this very page. And if you text, you can get a second vote each day by sending the message 101439 (that's the ID number for our organization) to Pepsi at 73774 each day of September. You can make a difference by voting for an organization that supports children like mine. Thanks!

Our Little Communicator

2010-08-30T21:07:00.003-06:00

Whitney has decided she wants to communicate through additional means besides just sign language lately. Since she got her new hearing aids she's been mimicking speech a lot more frequently.

For example, each morning when Whitney gets on the school bus, Melanie reminds Whit that she's wearing her aids and that the rule is "Don't touch." So now every day Whitney gets on the bus, sits down, points at her ears and mimics "don't touch" with the right number of syllables and vowel sounds and in a very serious tone of voice. It's pretty adorable. Now she's begun telling us "don't touch." All the time. She will also match syllables and vowels with "I love you" and "amen" after family prayers. Notes home from school indicate that Whit is doing all kinds of vocalizing and imitating there as well.

As she communicates we get to see more of her personality as well. One day last week Melanie went into Whitney's room to wake her for school. Whitney began to come around and pushed Melanie back gently and pointed at her door. She didn't need any words this time. The message was clear. "Mom, I don't want to get up yet." Just like any other tired little one would react on an early school morning.

Melanie and I love good communication with Whit and we hope it continues to improve. She's got so many things I know she'd like to share.

Back to School

2010-08-18T12:23:00.004-06:00

With year 'round school in Utah, summers end pretty early. Last Friday the whole family got to go meet Whitney's new teacher, all the assistants and Whit's new interpreter. We spent some time in the classroom together and visited about Whitney's specific needs and goals. Whit got to meet various of her classmates who have Down Syndrome, Autism and various other things. Whit's class will have around 8 students in it this year. The elementary school itself has three special ed classes that span first through fourth grade so there are lots of kids to get to know.

On Monday, the bus pulled up shortly after 7 for the first 45 minute ride to school. And a little after 4 that afternoon, it came back with a very tired Whitney on board. She was very hot because there isn't any air conditioning on the school bus. But after a huge drink of water, Whitney excitedly talked about different things she'd played with that day. We have to guess about the details, but when asked if she wanted to go back to school tomorrow, Whit replied with an enthusiastic nod, "Yes." A note from Whitney's teacher indicated that she had participated in the classroom activities and was happy all day. So that's another good sign.

Seven to four is a pretty long day for a little kid and one of our biggest concerns is Whitney getting enough to eat. Melanie sends a lunch with her each day with many of her favorite foods inside. Lunch is mainstreamed with all the other kids, though and Whit seems to be losing focus on eating. She's come home with a mostly uneaten lunch and a huge appetite two days in a row now. This is something we'll have to work on.

Thankfully, Whitney's new hearing aids have been performing well and she's left them completely alone for each day so far. Whit's new interpreter is very nice and was more than happy to interactively help Whit more correctly form her signs as well interpret what is going on in class.

Whitney decided to take of her seat belt and stand up on the bus yesterday on her way home, so we're going to have to watch that closely as well. She's probably just curious about the other kids or maybe wants to see better.

But overall she's doing very well. We're pleased the school year is off to such a good start.

The new Hearing Aids Have Arrived, Finally!

2010-08-15T16:18:00.004-06:00

After literally months of waiting due to ear infections and other health issues, Whitney now has ear molds that fit and brand new hearing aids that are tuned for her needs. Her ears have stayed clear enough over the last few weeks to allow for the molds to be taken. Then we waited two weeks for the molds to be made and shipped to the audiologist. As soon as they arrived, Whit went in for a hearing test and a fitting for her new aids.

And the result has been wonderful. No more needing to call her name three times to get her attention and more vocalizing during the day. Melanie and I were very worried Whit wouldn't tolerate the new aids after being without any correction for months. But the audiologist has kept the volume dialed back a bit so Whitney's not overwhelmed.

The aids themselves must be incredibly comfortable to wear. The weigh literally almost nothing and they're barely big enough to house the battery at the largest end. They feature an indicator light to ensure they're on and working and they don't have an on switch to make sure they don't actually get turned off during the day. Instead we simply flip open the battery door at the end of the day. The new aids are the shade of pink Whitney requested and the molds contain a special sparkle pink glitter. Perfect for my little girl.

Whitney has worn them partial days since she got the new aids in the middle of the week and hasn't complained or taken them out. They're helping her hear much better and they arrived before the beginning of the new school year. I'd call this a huge success.

Conference Activities: Zoo, Fountain and Children's Museum

2010-08-05T12:47:00.010-06:00

Conference attendees spent all kinds of fun together in the afternoons. Before the official start of the conference a group of families had a great excursion to the zoo. Then, Friday afternoon a big group went to play in the Olympic Fountain for a cool refreshing break. And Saturday afternoon, the kids all played at the Discovery Gateway Children's Museum.

Chad Bingham: Assistive Communication Devices

2010-08-05T12:38:00.004-06:00

Saturday morning conference attendees were treated to a great presentation of assistive speech devices and how they can help non-verbal kids like my daughter, Whitney. Here are some thoughts I captured during the presentation:

Speech devices can vary from the PECS system with pictures on index cards up to a portable computerized speech device.

With computerized devices the child uses it enough that it becomes motor memory similar to typing skills.

The goal is for the child to say what they want when they want int and have spontaneous communication.

A team can assess a child’s need for a device. This is often done through the school system.

Symbol systems have pictures. When the child presses the apple picture the device says apple.

Unity is the software in all PRC brand devices. It runs on the philosophy of vocabulary, stable icon locations, and a rule based approach to speech. It doesn’t have time-consuming navigation routines.

AAC devices don’t get used because:
• It’s not customized right
• The child doesn’t understand it yet.
• They seem to think it’s not important
• They get what they want without it. Parents speak for them.
• Kids don’t want to look different.
• They speak well enough that some will understand them without the device.

Use the device to:
• Request an action or object
• Get attention
• Greeting
• Asking for or sharing information

To encourage use:
• Make it accessible
• Load appropriate vocabulary
• Create a learning environment for the child
• Use appropriate activities

Use the language activity monitor at school. It logs usage so parents can see if the device is used at school.

The cost of a device that does speech synthesis can run up to $7,500. Insurance providers will cover up to 80%.

Lisa Shaffer: 1p36 Deletion Primer and Latest Discoveries

2010-08-02T12:41:00.005-06:00

1p36 Deletion patients are lucky to have Lisa Shaffer PhD, FACMG devoting research and knowledge about this syndrome. She's a leading researcher looking at what's going on genetically with children like Whitney. Dr. Shaffer spent over an hour and a half with conference attendees on Friday morning presenting the basics of the syndrome to the many conference newcomers as well as the latest findings from her research team and answering questions. Here are some important notes from her presentation:

First case of 1p36 Deletion Syndrome reported in 1980, 14 cases between 1980 and 1997

6 new cases diagnosed in 1997 with 1p36 Deletions – the year Dr. Shaffer’s first paper on 1p36 Deletion Syndrome published

Children from all different ethnic backrounds can be affected. Common are similar facial features

Other features:

All have some degree of mental retardation and developmental delays.

78% have hypotonia,

64% Speech Delay/ Nonverbal

64% seizures,

42% Feeding Difficulties

17% Oropharyngeal dysphasia (trouble swallowing)

44% Structural Heart defects

47% Hearing Loss – both conductive and sensorineural have been recorded

30% Reflux

34% Constipation Some other ulcers, discomfort

60% MRI abnormalities

Most deletions occur during egg production. However, the larger deletions tend to come from sperm production. Breakpoints tend to occur throughout the p arm of chromosome 1.

Starting in 1999, a group of kids were diagnosed with duplications and triplications of 1p. There are additional symptoms such as the suchers in the skull are already fused instead of large soft spots at birth.

Looking at deletions and duplications can help us find genes. That is, we can begin to see the effects of different portions of the genome based on their presence or absence in patients. This, in turn, can lead to solutions to seizures and other symptoms. We can also anticipate and treat certain medical problems.

We now know that the deletions are occurring during sperm and eggs are produced. It’s prior to meiosis in the progenitor cells. The deletions occur in the mother of the patient when the mother is born. This means there was nothing the mother did that caused the deletion.

Now we’re studying what it is that causes chromosomes to break. This will be difficult work because the breaks took place when the patient’s grandmother was carrying the patient’s mother.

In 2009 it was found that regions of the genome which aren’t supposed to connect up can recombine. When this happens in the wrong places this may be a cause of breakage and deletions.

Deletions can occur at the end of a chromosome (terminal which Whitney has) or in the middle (interstitial). 54% are terminal and 30 are interstitial. Others are translocations and complex rearrangements.

Microarray testing is now becoming the norm in genetic testing to diagnose 1p36 Deletion Syndrome.

Population frequency of 1p36 Deletion Syndrome was revised in 2003 to estimate 1 in every 5,000 newborns. The most common terminal deletion syndrome found thus far.

In 2008, a paper describing physical features significant enough to allow 1p36 Deletion diagnosis through ultrasound was published. Also, microarray genetic tests can be performed on genetic material obtained through amniocentesis.

John C. Carey, MD practices here in Salt Lake at the University of Utah Hospital. He’s an MD who has worked a good deal with cases of 1p36 Deletion Syndrome. The hope is to involve him with more work to have a more clinical aspect to studies.

Rachel Coleman: Signing Time and the Importance of Communication

2010-08-02T12:26:00.003-06:00

Rachel Coleman, the creator of Signing Time, and a special needs mom just like the moms in our support group, shared music and inspiration with conference attendees on Friday morning. 1p36 Deletion children are frequently non-verbal, so families like mine often turn to Signing Time to give our children a voice.

Over the years, I've come to admire Rachel Coleman's hard work and the way she fights for her own special needs children's rights. Her daughter Leah is Deaf and her daughter Lucy has Cerebral Palsy but they both get along great in this world because of their tireless, supportive parents.

The children in attendance on Friday were treated to several of their favorite Signing Time songs and the parents enjoyed some great words of advice on never giving up on your special needs child's abilities and potential. Then Rachel impressed us all by taking the time to pose for a photo with each and every child in attendance. Thank you, Rachel for making the day special for my daughter and her friends!

One final note: Rachel is an accomplished singer and song writer, but I would say, very most of all I enjoy reading her blog. She writes about the inspiration and the challenge of being a mom and a care giver. Check it out at http://www.rachelcoleman.com/.

Annual 1p36 Deletion Support & Awareness Conference

2010-08-02T12:19:00.004-06:00

The family had a great weekend at the annual conference for 1p36 Deletion families and caregivers. There were some excellent speakers and activities. I've got quite a few pictures and notes to share, so I'll be posting them over the next few days.

The conference this year was hosted here in my home town of Salt Lake City, Utah. Thanks to all of those who attended. It's the families who come that make an event like this a success and we had nearly 30 families attend. Thanks also, to the great care givers, researchers, therapists and others who shared their knowledge. A big thank you to Rachel Coleman for her performance and inspiration. And thanks to the great folks at the Downtown SLC Marriott for taking such good care of us all weekend.

Vote for 1p36 Deletion Support & Awareness

2010-07-22T13:04:00.002-06:00

In the summer of 2004, when Whitney, my daughter, was diagnosed with 1p36 Deletion Syndrome, there were very few resources to turn to for support and helpful information. That's one of the reasons I began chronicling our adventures on this blog. Today, a wonderful non-profit organization has taken up this cause. 1p36 Deletion Support & Awareness (1p36 DSA) is working to better support families affected by this medical condition and to better educate the medical community and the public about what is the most common genetic deletion.

All of this work takes funding and 1p36 DSA has applied for a fifty thousand dollar grand from the Pepsi Refresh Project. But we need your help. Grants are only given out to top vote getters. Please visit www.refresheverything.com and create an account. Then, starting August 1st, please vote for 1p36 Deletion Support & Awareness each day of the month. At the end of August, the votes will be tallied and grant winners will be announced.

This money can make a huge difference to families who may be affected by 1p36 Deletion Syndrome and they may not even know it. Huge percentages of patients go undiagnosed and untreated because this syndrome and the tools to diagnose it are still so unknown. But you can change that. Please vote! Whitney and our family thank you.

The Battle of the Ears

2010-07-14T12:19:00.003-06:00

It's been over a month since we gave up looking for Whitney's lost hearing aid and ordered new ones. In fact the audiologist has been in touch to let us know that they arrived some time ago. But Whitney hasn't been able to get them fitted and start using them. We can't keep her ears clear and clean long enough to take molds!

Whit has had a terrible string of ear infections and blockages this spring and summer. And with all that stuff in her ear they can't take molds. To see how to improve things, it was time for another trip to the ear, nose and throat specialist. After looking Whitney over, he surprised us. Whit does still have tubes in both of her ears, he told us. Her pediatrician pulled one out at a checkup, but it must have been from a prior set, because the ENT found two today. One was coming out so he removed it but confirmed that the ear drum still had an opening to allow for draining.

Based on this news we know Whit doesn't need new tubes, but we're still concerned about all the ear infections. The ENT recommended some new ideas to help. The main enemy is all the moisture that builds up in Whitney's tiny ear canals and fosters bacteria. He said we could set a hair dryer to cool and actually blow dry Whit's ears after her baths. Sounds pretty funny but if it helps, I'm game to try. Also, we'll keep using ear plugs in the bath and ear drops to help clear wax away.

The best news of all is that the ENT was able to clear Whitney's ears of wax and she's not currently infected. So we're scrambling to get in to see the audiologist as fast as possible to get ear molds taken and hearing aids fitted. Whitney will soon be hearing well again! And we hope to keep her ears healthier too. Can't wait to see how she likes having her ears blow dried.

Splash Park

2010-07-05T15:52:00.001-06:00

Whit and Liam had a blast playing together in the water this morning. Thought I'd share the fun:

School's Out!

2010-07-02T12:21:00.002-06:00

Whitney is officially out of school for the summer. Yesterday was her last day of kindergarten. Melanie dropped in with treats for the teachers, assistants, therapists and the interpreter and Whitney came home with the rest of her school work and her report card.

I'm not really sure she understood that she won't ever be going back to class there again, but I'm not sure how to explain it to her either. So for now we'll just tell her it's summer time and have some fun. We've got a big month of July planned with the 4th July weekend almost upon us and then the annual 1p36 Deletion Support & Awareness conference in just a few weeks.

Then Whit will begin first grade in August. It's hard to believe my oldest is a first grader and I think I've mentioned the concerns Melanie and I have about Whit making it all day at school. She's exhausted after just a half day of kindergarten! But we know they'll take good care of her and that she'll keep learning tons. She did so well this last year and we can't wait to see more of her progress. Thanks to everyone who has worked so hard to help Whitney this last year in kindergarten. We're very grateful for all you have done!

I Was Just Headed for Bed

2010-06-15T13:32:00.005-06:00

I had a good laugh the other night. I got home from meetings after the kids were in bed. I went to put away my things and change my clothes. As I passed, I could see Whitney was not in her room. I thought she'd gone downstairs to be with Melanie for a few minutes and I'd missed her when I came in.

Then I got down the hall to my room. There stood Whitney at the desk with my laptop open rearranging the items on my dashboard. She must have gotten up and snuck down the hall without Melanie noticing. Then Whitney decided to use my computer, which she's getting pretty good at. She opened the lid and started hitting buttons to see what would happen. She was totally engrossed in moving things around when I got to the room.

"Whitney!" I called from the doorway. She spun around, startled. Then she regained her composure, waved at me, signed "sleep" and headed past me out the door and down the hall. In other words: "Oops! I've been caught. Good night, Dad. I was just headed for bed."

Amidst all the medical care and worries, Whitney fills our lives with so many funny moments. Her personality just cracks me up. I guess I'll have to give her a turn on my computer so she won't stay up late to use it when I'm not around.

Oticon Safari 300s for the Win

2010-06-01T12:42:00.004-06:00

Whitney and Melanie headed to the audiologist this morning to pick out Whit's new hearing aids. It was clear a lot of things have improved in pediatric hearing aids since Whitney's last pair, Oticon Gaias, were developed. The new ones the audiologist recommended, called the Oticon Safari 300, are much smaller and more powerful. The have a tamper proof battery compartment and an LED battery indicator to take the guess work out of whether the batteries are still good. And most importantly they produce more accurate sound, especially in the frequencies for speech. Oh, and they're less expensive than we planned as well!

Optional features for the future include being able to switch from molds to tubes that fit more like headphone earbuds for more comfort and less hassle. Safari aids also support bluetooth phones, iPods, remote control volume adjustment and there's an adapter for TVs as well.

Oticon makes the casings in all kinds of different colors so Whitney had some fun picking out the color she wanted. She told Melanie she wanted pink and red. But they don't come two tone and our insurance probably wouldn't cover two sets, so Whit decided on the pink pair. They also come with stickers to personalize them just for her. I'm sure she'll have fun putting those on.

I was also pleased to find that Oticon continues to supply the stuffed rat- I mean otter- with his own pair of hearing aids that I got such a laugh out of last time Whit was fitted. The idea is obviously to show the child about wearing the aids and how they look, but the result is stuffed animal obsurdity that had us all in fits of laughter four years ago.

Anyway, Whitney is really excited to have new hearing aids. I think they're going to be a great improvement. Now that the order has been placed, the new aids will arrive, be fitted with new molds and be calibrated for Whitney by the end of the month.

Special Education Layoffs

2010-05-26T06:17:00.003-06:00

One of Whitney's favorite teachers aids who helps her in class every day is losing his job. He's just one of 69 full time classroom assistants being laid of in the school district where Whitney attends. There are also 19 full time special education teachers and various administrators who are being shown the door due to less state and federal funding being available to the district.

A month or so ago, some of the administrators who attended Whitney's first grade placement meeting were reluctant to list off the names of the people working in the classroom where Whit will attend. Now we know why. A fair number of teachers assistants and others who would have worked there this fall, won't be, due to the cutbacks.

People who study and work in special education do it because of love and desire to help children who need extra help and support. None of them does it for fame and fortune. So it really hurts when these great people end up losing their jobs. It's more than just lost income and benefits. They're losing the opportunity to serve and care for those they love. To those affected by these layoffs, please know our hearts are with you. Melanie and I will miss you and we thank you for all you've done for our daughter.

Speech Evaluation and the Snake at School

2010-05-14T12:32:00.007-06:00

We took one of the major preparatory steps for more speech therapy this week. Whitney had a two hour evaluation with her new speech therapist. During that time Whit showed off her improving listening comprehension skills by following instructions. She was also very cooperative considering how long the evaluation lasted. Whitney continues to mimic sounds she hears, including speech and we're excited for her to get more help in actually expressing herself verbally. Now that the evaluation's done, Melanie and I are trying to set up a schedule where Whit will go for a speech therapy session every other week. Then in between, we'll work with her on the concepts that are introduced. Melanie was very impressed with the new therapist. She seemed confident and full of ideas on how to help little Whit express herself verbally

Speaking of expressing herself, Whitney practically tackled me at the door last night when I got home from work. She was verbalizing excitedly and signing frantically to me about something. But she was using a sign I hadn't seen her make before. She followed me into the house as I put my stuff down, repeating the sign over and over. Finally Melanie explained to me what Whit was saying. One of Whitney's teachers brought her pet snake to school to show the children that day. Whitney had been excitedly signing snake to tell me about the experience she had at school.

Seeing a fun opportunity to talk, I asked Whitney if she saw its tongue go in and out and if she got to pet it. She told me "yes" and "no" as I asked her about the experience. I really enjoy it when Whitney shares her experiences with me. It provides such a great window into her life that I don't get as regularly as I'd like. Needless to say, I'm very excited about some more progress on speech so the next time Whit has a "snake at school" experience I can learn even more about it.

More about Hearing Aids and Tubes

2010-05-07T12:36:00.004-06:00

Melanie has been hard at work to get the ball rolling for Whitney's new hearing aids. One of Whit's last pair was lost and we've given up hope of having it returned. And you can't just replace one because they have to match to work correctly.

As step one in the replacement process, we've verified that we do have some insurance coverage for hearing aids through my employer-sponsored healthcare. That will be a huge help in defraying the nearly $8,000 cost. And I'm learning more about how insuring hearing aids works. Typically, a patient is encouraged to purchase a three year policy that covers new hearing aids in the event of loss or damage. And health care insurance, as with our family's policy, covers the purchase of a new pair every three plus years. That way, between the two types of coverage, there's always a way to ensure Whitney has good hearing.

The next step is to get Whit fitted with new aids and get them tuned properly based on her unique hearing loss. This will be happening in the coming weeks and I'll keep everyone posted.

During all this, Whitney also paid a visit to the Ear, Nose and Throat specialist to make sure her ear drums and tubes are looking good. The ENT verified Whit's last set of tubes has dropped out and the ear drums have closed properly. This is good news since Whitney's general pediatrician thought he had seen a growth on one of her eardrums that might have required surgery to remove.

The ENT asked us to keep an eye out for ear infections now that the tubes are out. Hopefully, Whit's ears stay clear or it'll be time for what the ENT called T-Tubes. They're so permanent that they have to be surgically removed. We're really hoping Whit's ears have opened up enough to allow for normal draining. Which should help keep those nasty infections away without requiring any more tubes.

The Hearing Aid Adventure

2010-04-13T12:07:00.005-06:00

Whitney has worn hearing aids since she was about 18 months old. Melanie and I are glad she started wearing them so early because they've given her the best shot at early acquisition and use of language. Starting early has also made her more tolerant of having her hearing aids in for the duration of the day. We've worked hard to teach Whit not to touch her aids or take them out by herself. The few times she has, they inevitably get put in her mouth or left around the house for little brother to find. Whit's current aids have been carefully dried after water exposure a number of times.

We've also had experiences where a hearing aid has come out and been left somewhere. The most memorable was when Whit lost one at Melanie's grandfather's viewing. But up until last week whenever a hearing aid has been lost, it's always turned up unharmed in just a little while.

Last Thursday, the family went out for dinner and a little shopping. When we returned and Whitney was geting ready for bed, we discovered one of her hearing aids was missing. We searched the house and the car. We called the places we'd been that night to report that we'd lost a hearing aid. But nothing turned up. On Friday, Melanie retraced the steps of the previous evening and visited every place we went. Her thorough search didn't turn up anything.

Yesterday Mel talked to the audiologist to see what she recommended. I'm glad she did, because what we learned made me feel a little better about the loss. The audiologist recommended we wait a couple of weeks before starting to work on getting a replacement. She said sometimes even after that much time someone will turn it in to a lost and found somewhere or it will turn up around the house. So we won't lose hope.

She also told us that Whit's aids are over four years old and most hearing aids have a lifetime of around five years. In fact, we had insurance covering loss and damage that covered the first three years after purchase, but due to their age that coverage had expired.

Even if we hunted down the missing one, we'd likely be purchasing new aids for Whitney in the next year or two anyway. The audiologist cautioned that we not purchase one aid to replace the missing one. It's critical to have matching ones to provide properly balanced sound. And besides, if we purchased one new aid, the other might stop working soon anyway. And given the amount of abuse those things have taken over the last four years, I can believe it.

So we'll be looking between the couch cushions and waiting for a call that someone has found the missing hearing aid. But at the same time, we'll be doing some research on insurance coverage, hearing aid models and prices. That way we can get Whitney hearing well once more.

And you'd better believe I'll be dreaming up some way of tagging the new ones with our phone number or maybe even some kind of GPS tracking device!

**********

Whit had a great time decorating Easter eggs as you can see from the smile on her face.

Baby Sister

2010-04-06T13:07:00.005-06:00

Having more children isn't something parents with a special needs child take lightly. Questions about "could it happen again" and "could I handle it if it did" linger in the back of my mind even when I know Whitney's chromosomal deletion is a 1-in-10,000-births fluke. It's been over three years since our last child was born but I remember the "what if" concerns very well.

I bring this topic up again now, because Whitney and Liam are going to have a little sister this fall. Mel and I went in for an ultrasound last night to see how everything looked. Thankfully, everything seemed to measure right and the heartbeat was just fine as well. This new baby is apparently not shy at all. The first view we saw on the screen positively identified her as a little girl.

We are both thrilled. We've read research that shows women who grow up with a sister are happier and healthier and we hope that will carry over to Whit and her little sis. There will be about six and a half years between them. But with some developmental delays thrown in they could see eye to eye on a lot of things during their childhood. I think these two sisters will be great together as they grow up. I just wanted to share the news. We'll keep everyone posted on our growing family.

More Speech Therapy

2010-03-27T07:12:00.002-06:00

As I’ve mentioned before, all of a sudden Whitney is showing a ton of desire to speak. Melanie and I have seen notes come home from school about Whitney trying her best to repeat words in class. Previously, Whit’s tried to mimic vowel sounds, but now she’s trying to say the whole word, consonants and all. She’s not very successful yet. You can watch the wheels turn in her head as she’s trying to make her mouth do what she sees others do to make the sounds. It’s going to take some work to get all the way to actual speech. But now that she’s showing so much desire, it’s time to see if we can get some more work done in the area of speech therapy.

Melanie and I talked the other night about tracking down how many visits our insurance company will cover and then tracking down a therapist who’s covered in our network. We’ll start with that and see where things go. Whitney’s had a speech therapist before but she didn’t used to like to work with her at all. She was very uninterested and uncooperative, so we kind of focused on other areas for a while. But now that her interest has returned and she doesn’t need as much physical therapy, we’ll shift our focus back and hope for some actual verbal communication over the next few years. What a thrill that would be!

Parent Teacher Conference and First Grade Placement

2010-03-19T12:38:00.005-06:00

Yesterday was a big day for Whitney. Melanie and I met with the school district special ed decision makers as well as Whit's teacher and speech therapist. First, Whitney's teacher reported on Whit's progress in Diagnostic Kindergarten this past year.

Basically, Whitney has come a long way. At the beginning of the year, she was hard to keep focused on tasks, she thought the plastic letters on the table were for eating and she wasn't quite walking. Now Whitney can pick out her letters, both upper and lower case, from a group of three based on name and sound. She can complete a single verbal instruction with around 75% accuracy. And gross motor skills are her biggest success of all. Whitney can walk and even fast-shuffle run with the other kids. She's enjoying mainstream recess and is working on how to hop as part of her PT exercises.

Based on her skills and needs, Whitney has been placed in a "cluster" first grade class. She'll be at an elementary school with classes of typical children and two cluster classes that provide support for various therapies and special ed. This will likely be the school Whit will attend for several years so she can continue to work with the same people in the same facilities. In fact, her class will have both first and second graders in it who are all working on the same things.

The district continues to push contact with typical peers via mainstreaming. They promise that Whit will be supervised at all times. For first grade, she'll be mainstreamed for recess and music time, which sounds perfectly suited for Whit.

Melanie and I are pleased with the placement choice overall. The school is a bigger distance from home and may require nearly an hour bus ride each way depending on how many kids need picking up and dropping off. But it offers the right blend physical therapy equipment and therapists. So we'll deal with the distance. Whitney likes the bus and the school is definitely a better fit than some of the closer ones. The bus will probably come for Whit around 7:30 in the morning which will be a big change as well. Afternoon kindergarten has spoiled us this last year.

All in all we're very excited for the new opportunities. We're a bit nervous about having Whitney gone to school all day, but that's probably normal. And we're very excited at the progress Whitney has made this past year. Thanks to everyone who has worked so hard with our little girl.

**************

About the picture: After being so sick to her stomach last week, Whitney got back into her eating groove by Sunday. She's seen here listening to her omnipresent music player and polishing off her second helping of ice cream!

No Hospital Visit for Us Today!

2010-03-13T12:20:00.002-07:00

Last night when I posted it was getting close to decision time. Either Whit needed to start keeping fluids down or it would be time to run up to Primary Children's Medical Center for IV fluids.

Thankfully, during the night Whit started keeping water and crackers down. Melanie got up every hour to give her some more and this morning we're all tired, but on the rebound. Thanks, everyone for your thoughts and prayers. We're going to make it!

Bad Case of Stomach Flu

2010-03-12T19:32:00.003-07:00

Whitney has been sick to her stomach consistently for nearly 36 hours now. She's very dehydrated and weak. Things started yesterday morning and she's still throwing up this evening. She was up sick in the night several times so we're all pretty tired. We're hoping she has a better night tonight or she may need IV fluids tomorrow. I'll post an update tomorrow.

Mainstream Recess

2010-03-03T12:39:00.003-07:00

I don't know why this strikes me as cool, but now that Whitney is walking so well on her own her teachers tried a new experiment with her the past couple of days. They decided to sent Whit out for recess with the kids from the typical kindergarten classes.

Now Melanie and I weren't there to see all of this. We just got the note home from school about it. But she must have had a blast because last night by the time 7 pm came around Whit was asking for bedtime. The kindergarten has a special playground that's fenced off from the rest of the schoolyard and has play equipment that's just the right size. I think she must have walked around and played so much that it was as good as a session of physical therapy.

When I was a kid I regarded recess as the most important subject in school. So I'm very pleased that my little girl is now mainstreamed in with the other kids for such an important part of the school day.

I Just Want a Friend

2010-02-22T12:53:00.004-07:00

A couple of weeks back, when Whitney was still on break from kindergarten, some of the neighbor kids knocked on our door. Melanie opened it and Whitney excitedly came over to see who it was. She's a social little lady and loves it when people come over. The kids had just come to get an egg or something their mother needed for cooking dinner. Once they had what they needed, they headed home.

As Melanie closed the door, Whitney became very upset. We could tell that Whit really wanted someone to come over and play. She had been extra lonely because she hadn't seen her school friends in several weeks and was suffering from serious social withdrawal. It's tough on her because the neighborhood kids her age are very kind to her, but really can't relate to a child that can't talk or do many of the same things they enjoy.

Melanie and I are going to have to work harder to involve Whit in social events and interactions. I think she really craves them and they definitely make her happy. When Whit does have other kids to play with she's so much happier. She looks forward to school and church because she gets to be around other kids and interact with them. It doesn't take words to see how much she thrives on being around others her age. Any good tips on finding more social interaction?

Homework

2010-02-11T12:35:00.003-07:00

Whitney has been off track from kindergarten for several weeks again. This is one of the joys of our local school system and year round school. These breaks are tough for Whitney because she misses the social interaction with her classmates and teachers as well as the valuable therapy she gets at school.

But all is not lost. Whit's kindergarten teacher knows how tough keeping skills up during these breaks can be. And she's found a way to help. In Whitney's backpack, the last day before break, was a packet of homework. Now for a typical kid the sight of a packet of homework over a break would probably elicit groans. Lucky for Melanie and I, I don't think Whit has ever learned to groan.

And also, Whit loves to work on worksheets with Melanie. Most days the two of them will sit down together for a while and work on some coloring or a dot to dot puzzle and Whitney thinks it's great. She gets one on one time with Mom and she's working on the same things she's worked on at school so far this year. So hopefully when this long winter break ends, Whit will head back to school having maintained her skills her teachers have carefully cultivated since September.

Continuing Ear Struggles

2010-02-03T20:02:00.001-07:00

One of the disappointments at Whitney’s six year old checkup came when the doctor looked in Whit’s ears. “The left tube has come out of her ear and is sitting in the canal,” he told us. Yes, that would be the same tube we’ve had placed over and over again to help with Whitney’s ear aches.

Now that Whit’s adenoids are out when both tubes are in, Whitney is pretty healthy and happy. But we know almost immediately when that pesky left one has dropped out. Whitney has ear infection after ear infection.

She was treated for one in mid January. The antibiotic used to treat it worked great. That ran out last week. Sure enough, yesterday and today Whitney is again complaining of pain in her left ear.

Melanie and I aren’t sure what to do now. After so many tubes in that ear, I’m not sure we can ever find one that will stay in. And maybe we’re taking the wrong approach. I don’t know, really. I wonder what makes her left ear so uncooperative. The tube in her right one stays in and does its job very well.

I’m grateful that Whit is healthy in nearly every respect. We don’t have to worry too much about heart troubles or stomach troubles like so many of our support group friends. I just hope we can find something that will help Whit to be able to live without almost constant pain in her left ear.

Birthday Time

2010-01-21T12:45:00.005-07:00

We enjoyed celebrating Whitney's birthday as a family again. It's hard to know what food or restaurant Whitney really likes. But we do know that she loves to play on the slides and play equipment at our neighborhood Arctic Circle. So that's where birthday dinner and playtime took place. Liam and Whit had a blast playing and the staff brought us free ice cream cones after a dinner of mostly french fries.

Then is was time for presents. Whitney got some new clothes, books and toys. Her favorite gift this year is a children's mp3 player. Whitney will sometimes get a hold of an old phone we have that plays music. She'll turn on the children's songs and walk around the house all day with it. But the battery doesn't last as long as she'd like and it's not great that she's running around the house with a phone. So this little player has a handle that's just the right size and a speaker so she can hold it near her ear and enjoy all the children's songs I loaded on.

For Whitney's 6 year checkup the doctor was mostly pleased with her progress. Her left tube has come out of her eardrum again. But she is slowly continuing to gain weight. For those keeping score at home, she's up to 28 pounds now. Anyone else out there have a sub 30 pound six year old? The doctor said he's pleased to see the increased muscle on Whit's legs which is probably due to her stair climbing. Whit also got her H1N1 booster shot, but luckily that was her only immunization this trip.

Happy birthday little girl! And thanks for teaching me so much over the last six years!

The Tantrum and the ER Adventure

2010-01-15T12:08:00.005-07:00

I lightly alluded to a behavioral problem in last week's post: Tantrums. In that post I mentioned that Whitney had injured her tailbone during a recent tantrum and has just barely recovered. I figured maybe the pain would be a good reminder that it's not good to throw yourself down and have a fit even when you're mad. Sadly, I was wrong.

This past week Liam took a toy that Whitney was playing with. Whitney was very upset and launched into another tantrum. Before Melanie could intervene, Whitney had thrown herself down and hit her forehead on another nearby toy. Whit's tantrums are something a toddler might do, but she's a lot bigger and stronger than a toddler and she can do some real damage. On this occasion she split open her forehead above her eye.

Melanie was able to calm Whit down and slow the bleeding but the cut looked deep enough that stitches would be needed. So it was off to the ER. Whitney was brave at the hospital, but it was painful when the doctor had to clean out the cut. Luckily, once it was clean the doctor recommended using some medical glue to hold the cut shut instead of actual stitches. Using the glue eliminated the need to sedate Whitney, since she's too strong to hold still for something like sewing her forehead when she's upset.

The whole visit took less than two hours. Whitney was back home and playing later that afternoon. But she'll likely bear a scar near her eyebrow as a reminder of the adventure. She'll be like her daddy in that respect. I have a scar near one of my eyebrows from when I was young and horsing around. I clocked my head on our family's brick fireplace.

Whit seems to be managing the pain okay with just Children's Tylenol. She did have a pretty good goose egg in the area the next day. These kinds of injuries are a normal part of growing up I suppose, but I hope Whitney soon learns more self control. It's hard to see her injure herself when she gets upset.

Taking the Stairs

2010-01-09T12:13:00.004-07:00

In my post earlier this week, I mentioned how Whitney has now decided to take the stairs standing up. Melanie and I can safely say it wasn't our idea either. Just our independent little girl deciding to do it. Melanie caught Whit in action now so you can have a look. Just please hang on tight to that rail!

Adventures with the Stairs

2010-01-06T12:38:00.003-07:00

Our little house has quite a few stairs. There are stairs from the main floor up to where the bedrooms and toys are and stairs to go down to the basement where the kids like to play and watch TV. Because things are so split up between the floors of the house, Whitney has had to learn to navigate stairs since very early on in her life.

These days Whit is walking pretty much everywhere she wants to go. So it's frustrating to her to have to get on her hands and knees to go up or down the stairs. Melanie has been working with Whitney on walking up and down the stairs for some time. But Whit still lacks the leg strength to do it independently. Also, some of the handrails in the house are too large for her small hands to hold effectively for support. But that doesn't seem to stop Whit's determination.

Just yesterday Melanie was doing some things in the basement. When she looked up, here came Whitney walking down the stairs without any help at all! She was holding tightly to the hand rail, but she did it all on her own. Melanie figures she must have stood up, and walked to where she could reach the handrail. Then she hung on for dear life and stepped off. I wish we could have caught the whole thing on video. We were very proud. With a little more work Whitney will be doing the stairs in a downward direction by herself all the time. And I'm sure going up will come in time as well.

****************************************

The stairs are also our time out place when Whitney or Liam need a moment to calm down. Melanie and I will set Whit on a step a couple up from the bottom and let her calm down for a minute before we talk about she's being disciplined. This usually works pretty well, but over the weekend we did have a mishap.

Whitney was very upset about a toy she wanted to play with, but couldn't have because Liam was using it at the moment. She proceeded to throw a pretty good little fit. Screaming, hitting and rolling on the floor were involved. Melanie put Whit on the stairs in time out to calm down. But Whitney wasn't having any of that. She pushed herself bum-scoot style down the couple of steps to the landing. She did the whole maneuver with such force that her back side came down very hard on the vinyl flooring on the landing.

Pop went Whitney's tailbone as she screamed in a more sincere tone now. Melanie raced to the rescue but the damage was done. Whit seems to have bruised her tailbone. She was very sore on Saturday and still refused to stay in her school chair on Monday. It's not keeping her from walking, but we know it's painful by how she acts. We've been treating it with a heating pad and children's ibuprofen. Hopefully she'll heal up quickly. Poor little girl. I doubt she'll try that particular little tactic during her tantrums again.

A Visit From Saint Nicolas

2009-12-17T12:09:00.005-07:00

The doorbell rang around seven on Monday night and Liam raced me to the door. Whitney wasn't far behind and when we opened it we found a jolly old elf dressed in red. Santa Claus had stopped by to bring the kids and early Christmas treat and to make sure they were being good.

Santa sat by the tree and had Liam sit on his knee. My little two year old clammed up tight. He wouldn't say hardly a word to old Saint Nick. Truth be told, Liam was much more interested in the candy cane Santa had handed him.

Whitney, on the other hand, was thrilled to see Santa. She made her way over and was patting Santa's tummy before Liam's turn had even finished. When it was her turn on Santa's lap, Whitney smiled and petted his long white beard. We hadn't coached Whit on what to say when Santa asked what she wanted for Christmas. So we were surprised when she answered confidently, "Candy!" You can see her request in the picture above. I suspect that's something Santa can arrange.

Whitney understands so much more than we give her credit for. And she and Saint Nick seem to have a special bond. Thanks to Santa Claus for stopping by. And thanks also to everyone who visits this blog. We love hearing from you. Whitney, Liam, Melanie and I wish you a very Merry Christmas

Little Brother the Speech Therapist

2009-12-08T12:19:00.004-07:00

While Whitney signs well and is able to communicate her needs, Melanie and I haven't given up on the skill of actual speech. Whitney still vocalizes different sounds on occasion. And we've heard from other parents that walking and speech are somehow tied developmentally and seem to emerge together. Knowing this, Mel and I have tried to focus on speech since Whit is improving so much with independent walking. The only trouble is, Whitney doesn't really want to cooperate when we sit down with her and practice. "Say, aaaa." Nothing. "Say, oooo." Nothing.

But all is not lost. Whitney's little brother Liam is proving to be a pretty good speech therapist in his own right. For whatever reason, Whitney thinks it's pretty funny to mimic the things that Liam says. When Liam says thank you, Whitney will vocalize aaaaa oooo. When Liam says please, Whitney says eeeee. For right now it's just the vowels with no consonants, but she's getting the vowel sounds and the number of syllables correct.

Sometimes on a long car ride or something the two of them will sit in the back seat and mimic each other's sounds. It makes for a lot of noise, but Liam seems best able to coax more sounds out of his big sister. And with more work, I think we'll get close to actual words someday. I'm certainly hopeful.

Snowfall Stimulus

2009-11-30T12:03:00.003-07:00

We had one of the first big winter storms of the season recently and Liam and Whitney were excited to go out to play in it. While Whitney is getting very sure-footed on carpeted floors and hard surfaces, walking on snow in our back yard was a bit much for her to handle without assistance. Melanie and I held Whit's hands as she roamed around in the wintery wonderland.

Whit wanted to get down and play on the ground so she could touch and taste the snow. But we didn't want her getting too wet and cold. Luckily I thought of a molded plastic chair that is just Whitney's size. I brought it outside and had Whitney sit in it. From the little chair she was able to touch the snow and play with it in her hands while keeping her knees and back side from getting soaked.

The winter temperatures and snowy textures proved to be great stimuli for Whitney. She also had a great time throwing snowballs at me with a little help from Melanie.

Strange Sleep Habits

2009-11-11T12:36:00.005-07:00

One thing I've observed in Whitney and heard a lot about from other 1p36 parents is strange sleep habits. I'm not sure what exactly causes the abnormal sleep patterns in my little girl, but they sure create some interesting situations.

I know for a fact that Whitney is awake during the night, and sometimes for extended periods. Sometimes she'll stay in her room and play. Melanie and I find toys and things out in the morning. Other times Whit will go exploring. I'll never forget one night I awoke from a very deep sleep at about 3 am to find Whitney standing over me in the darkness. Talk about stopping your heart.

But no matter what happens during the night, wake up time in the morning is always prompt. Whit's body clock is set to go off between 6:30 and 7:00 am every day. Which doesn't exactly delight Melanie, but it means I usually get to give Whit a hug before I head out for my workday. I very much enjoy that. I could delude myself into thinking that Whit gets up at that hour with the express purpose of giving me a hug before I leave, but I know the real reason behind it. Sesame Street airs at 6 am on our local PBS station and I usually put it on for Whitney before I leave. Whitney and Elmo are pretty tight.

Often all the night time partying and early mornings get to be too much for Whitney. We regulary find her fast asleep someplace in the house after playing with her toys. This happened the other afternoon with a funny twist. Whitney was upstairs playing and Melanie went up to check on her. Whitney had gotten tired and decided that her pink mesh dirty clothes hamper would make a good tent to sleep in. So she knocked it over, crawled inside and was fast asleep when Melanie found her. She looks pretty comfortable to me. Maybe I'll have to try something similar the next time I need a snooze.

Odds and Ends

2009-11-04T12:37:00.004-07:00

No major stories to tell this week, but here are a few quick odds and ends:

Whitney loved trick or treating on Halloween. She walked around the neighborhood collecting candy until suddenly she dropped her candy bag. Melanie told her to pick it up but Whitney refused. So Melanie picked it up and realized it was pretty heavy. All that heavy candy wore Whit's arm right out!

****

Whit and Melanie are at the ENT's office this afternoon to see how her tubes are looking. Her ears seem to be draining better after she's been sick. So hopefully both tubes have stayed in and are doing their job this time around.

****

Melanie has been calling hotels in downtown Salt Lake City this morning. She's quickly narrowing down possibilities for the venue of next year's 1p36 Deletion Support & Awareness Conference. She's especially looking for a place that will have a free airport shuttle, plenty of conference room space, rooms with fridges and microwaves and a heated pool and hot tub. As soon as she makes the arrangements, we'll spread the word.

****

Whit is bored with most of her toys. She's not really got that many things that keep her attention. Melanie and I are really trying hard to think of some new things she can enjoy as Christmas gifts. I just wish Whitney wasn't so hard to shop for. Anyone got some good ideas?

Kindergarten Parent Teacher Conference

2009-10-26T13:04:00.004-06:00

When Whitney started kindergarten back in August I was concerned about some of the advanced things that would be expected of her. Was her placement in diagnostic kindergarten really the best thing for her? Could she keep up?

Melanie and I got some answers at our first parent teacher conference with Whitney's teacher. And as it turns out, Whitney is making some good progress. She is much more attentive when instructions are given in class and no longer requires physical, hand-over-hand prompts to accomplish her tasks. She can hold a crayon or pencil with the tripod grip in order to do her class work and she's able to press harder with the crayons so you can actually see her work too.

She recognizes her letters and is even starting to trace the shape of some of them in her workbooks. She can complete some patterns. Like when her teacher shows her yellow, blue, yellow, blue. Whitney knows yellow comes next and then blue again and she'll pick up the correct crayon to go along with the pattern.

Numbers and counting really aren't Whitney's thing yet. Other than being able to point at numbers she recognizes, she doesn't do much counting or quantitative reasoning yet. But all in good time. I have to keep reminding myself that Whitney has accomplished all of this in between being pulled out for physical, speech and occupational therapy as well.

I'm really impressed with Whit's teacher. While kindergarten is a lot of coloring, singing and playing, her teacher sees it as teaching vital basic skills through the medium of coloring singing and playing. She expects quite a bit of her students. Not enough to frustrate Whitney most of the time. Just enough to keep Whitney working and progressing. By the end of the year she expects to see more progress on Whit's letter and counting. That would be terrific.

Whit's off track for a bit now, but her teacher even sent home a packet of things to work on during the break. And you can bet we will. It's encouraging to see Whitney continuing to learn. It's another reminder to never set limits for your child.

Oh and I almost forgot. Happy Halloween from Princess Whitney and Darth Liam!

Fall Weather and Health

2009-10-21T12:17:00.003-06:00

Our family enjoys Fall when it arrives each year. Melanie and my mom enjoyed taking Whitney and Liam to the local pumpkin patch this past week to have some fun. But with Fall also comes cooler weather and illnesses that affect my medically fragile little girl.

The headlines are all about H1N1 flu and we're concerned about Whitney catching it so we're trying to track down vaccinations for her and little brother Liam. And Melanie and I were worried when Whitney started with a fever yesterday morning. Could it be this dreaded new strain of flu?

When Melanie called Whit's kindergarten teacher to let her know Whit would be staying home yesterday, the teacher mentioned that Hand, Foot and Mouth Disease has been going around Whitney's elementary school. This type of intestinal infection can also begin with a fever. And sure enough, this morning, Whitney has other Hand, Foot and Mouth symptoms.

So we're safe from the dreaded Swine Flu for the time being, but Whitney has some very painful sores in her mouth and elsewhere. I feel pretty bad for her because she's miserable and refuses to eat anything. It hurts just to have food in her mouth. So she's getting lots of cool drinks and Melanie is going to try and get some yogurt into her. Luckily the initial fever does seem to have subsided.

Hand, Foot and Mouth Disease is spread by direct contact with saliva. And as much as Whit puts her hands in people's faces and then in her mouth, I can easily see how she caught this. Now the trick is to get her well again. All in good time, I'm sure. Hopefully she'll be able to enjoy some more healthy Fall days soon.

An Assistive Communication Device?

2009-10-14T12:36:00.004-06:00

Raising a child with special needs always presents new ideas to consider. Lately I've been stewing a lot over assistive communication devices. These are gadgets that can be used by those who don't speak to play sentences aloud for them. I think the technology is terrific and there are many who benefit from this type of device.

The reason I'm spending so much time thinking about this topic is because several people at school have suggested one for Whitney recently. I guess I hadn't really ever considered this for my little girl because she and I and Melanie and the rest of our little family all communicate well using American Sign Language. Whitney gets upset a lot more often because she can't have what she wants than when she can't communicate what she wants. Why would I want her to have to learn yet another way of trying to communicate?

I asked Melanie that exact question and she had a good answer. What about all the other children in the neighborhood? Whitney can't talk to any of them. Other than us and a few other signers out there, she's completely cut off socially. Good point.

But can she really pick up yet another method of communication and use it effectively in her everyday life? Will it be a good fit for an active little girl who's already packing gadgets in her ears to hear? Would a device like this take the focus off actual speech skills? We haven't given up on Whitney speaking. Will this work any better than the Picture Exchange Communication System (PECS) program that Whitney totally didn't get? Who knows? I'm just full of questions and I'm seeking answers. I'll be sure to share what I find.

You're Funny. Jump!

2009-10-06T12:06:00.004-06:00

Whitney has made up a new game that makes us all laugh. Wherever we're at she'll point to someone and tell them they're funny. Then she'll ask them to jump. Melanie and I aren't sure where she got the idea but she seems to think jumping is hilarious.

The other day Whit and Melanie were at the doctors office for some hearing tests. They bumped into Whitney's physical therapist. Whitney said hi. Then she told her PT, "You're funny. Jump!" So Whit's therapist jumped. Whitney laughed and laughed.

In the days since then, all of us around the house have been recipients of the request to jump. And how can you say no? Whit's just too cute. Other people must think so too.

On Saturday we went shopping for a few things at our neighborhood Lowe's store. As we were checking out, the cashier was asking Melanie and I about Whitney. We explained about 1p36 Deletion Syndrome and how Whit signs to communicate. Whitney knew she was getting some attention. She signed to the cashier, "You're funny. Jump!" Melanie interpreted so the cashier could understand Whit's signs. Then the girl at the register said okay and jumped for Whitney. We all had a good laugh.

In the days since, we've heard from Whit's bus drivers and a few others about Whitney asking them to jump as well. So my daughter's silly game appears to be spreading. Be warned, if you run into Whitney somewhere out and about, you may be asked to jump!

Photo: Whitney with Great Grandma Hanson, September 2009

Gaining Strength and Having Fun

2009-09-29T06:17:00.001-06:00

Whitney's strength continues to improve. Melanie has made our walks around the block almost a nightly thing now. And Whit will go most of the way without even reaching out for our hands. Her stamina is really improving and so is her stability. Step after step she proudly walks along. Sometime the neighborhood kids will stop their playing and shout, "Hi, Whitney" and offer words of encouragement. Whitney smiles and often waves back as she walks along.

There are other benefits to her improved body strength as well. For the first time Whitney is able to swing on our glider swing out back. Her trunk is so much more stable. She just hangs on and enjoys the ride. Melanie and Whit are demonstrating Whit's new swinging ability in the photo here. Whitney is pretty proud of herself for being able to do yet another thing she sees the other kids doing.

The Interpreter or the Aide Dilemma Resolved

2009-09-16T08:03:00.002-06:00

We've finally gotten to the bottom of the signing aide versus interpreter debate in Whitney's kindergarten class. Last year Whitney had a terrific signing aide who was diligent about helping her to form signs correctly in a hands-on way. Melanie and I were concerned this year when we learned that Whit wouldn't have a signing aide at all. Instead she was assigned an ASL interpreter to help her along. The concern Melanie and I had was that an interpreter might not be able to take the same hand over hand approach to teaching Whit to sign.

This concern led to some phone calls to the coordinator over signing aides and interpreters for our local school district and finally calls to the special education coordinator as well. Melanie left quite a few messages and was getting frustrated that the return calls weren't coming.

Then, late last week, we got our answer. The district special ed coordinator called and talked with Mel for quite a while. She had been piecing together the story between Whitney's kindergarten teacher, her interpreter and others involved in order to give us a straight story when she called.

As it turns out, the special ed coordinator knows Whitney personally and specifically requested an interpreter for her instead of a signing aide even though her individual education plan states that she'll have an aide. And she was right for doing so.

The one detail that this kind district administrator was aware of that we as parents weren't, is that interpreters are assigned to a specific student and a signing aide is not. So Whit's interpreter is there for her all week long during every moment of class. If Whitney had been given an aide, she might see her less during the week and when the aide was present, she'd have to share her with the rest of the class as well. For one on one attention, having an interpreter is the way to go.

The best news is that interpreters are also allowed to do the hand over hand work necessary to teach signing to young ones. As the students learn and grow, less of that work is necessary. Until finally in high school, the interpreter's job is 100% translation with no direct teaching. So Whitney's interpreter will be working closely with her and teaching her as time goes by. And it'll be a one to one relationship that should really benefit my daughter.

I'm grateful for a caring district administrator who has many students' needs to attend to. But who would take the time to single out Whitney and make sure she would have the right people in place to continue her education in the best way possible. That's going above and beyond to help one needy little girl. And that little girl and her family are thankful.

Water Surprise

2009-09-06T21:17:00.003-06:00

The occupational therapists like to surprise us sometimes. They've apparently been working with Whitney on some new life skills since the beginning of the school year. Whit surprised us this weekend with her new found superpower of being able to turn on the bathroom sink. Melanie was folding some laundry and Whitney walked up to the sink in the adjacent bathroom and proceeded to surprise us by turning on the water. As you can see in the video, she does it repeatedly so it's no fluke. It appears the therapists are working on getting her to wash her hands all by herself after going potty. That sounds like a great life skill to me. It sure is fun to have surprises like this one come along. Mel and I are grateful for the wonderful school system that supplements what we do in the home. And then goes above and beyond with delightful little shocks like this.

Taking a Walk

2009-08-29T19:56:00.005-06:00

Our family has gotten involved with a new past time in the evenings this summer. We like to go for walks around the block our house sits on. Why do we like doing this? Because we can do it without a stroller or a walker! Whitney can do it almost without any help at all. Here's a shot of Whit coming around the corner and heading on up the street all by herself.

Taking a walk like this as a family never fails to put a smile on my face. It reminds me of just how far we've come.

Hearing Improvements and Vocalizing

2009-08-28T21:33:00.004-06:00

It's been nearly two months since Whitney's surgery to insert tubes that allow her inner ears to drain. In that time we've noticed some remarkable changes occurring. Whitney has begun vocalizing again. She's done this a bit in the past but for the last year or so, she's been pretty quiet. That's changed now.

What I love best about her new found ability to vocalize is that it's what I would call social vocalizing. She's not just saying, "aaaaaaaa." She's doing it in response to something Liam says. Or she'll make a sound. Then I'll match the sound she made. Then she'll make the same sound back again.

It's really starting to give me hope that she'll be able to speak one day. Melanie has begun working with Whit using our Z-Vibe again. This should give her more sensation in her mouth for forming actual words one day.

Melanie and I think this progress in vocalizing is due to actual improvements in hearing that are likely the result of her ears finally draining. It may also have to do with Whitney's brain better understanding what to make of the stimulus her ears are sending it. This is based on what Dr. Perszyk has studied and shared at conferences.

But whatever the reason, I'm hopeful that better hearing and maybe even speaking will someday be in Whitney's future.

Also, Whitney has learned to apply makeup by studying her mother's expert hand. You can see her in action in this post's photo. She may not say a whole lot yet, but she's very observant.

Kindergarten Testing

2009-08-20T12:27:00.005-06:00

I went with Melanie and Whitney to Whit's kindergarten assessment this morning. The school is not too far from home and seems nice and new. Whit's new teacher is experienced and will work well with her. But I'm concerned. I'm not sure Whit's in the right place for kindergarten.

I felt like the testing didn't go well at all. First up was placing small toys on a grid and counting. Whit didn't even get the purpose, she wouldn't do what they wanted and she certainly can't count. Whit didn't really give the teacher and her aide the attention they needed. Melanie and I snuck out into the hallway so we wouldn't distract her.

While Whitney was alone with her teachers in the classroom, they tried to get her to identify the letters of the alphabet. A few minutes into the test, the teacher came out into the hallway and asked or help, "We're just not getting anything out of her."

Melanie stepped in to help and managed to get Whitney to sign a few letters. Whit was willing to identify and pick up a few plastic toy letters when her teacher asked her to. We were told that identifying upper case and lower case letters is a kindergarten skill, so hopefully Whit will improve over the school year.

It took a half an hour of work to get through 10 or 15 letters and Whit kept signing "all done" throughout the exercise. After that, we just talked with Whit's teacher. She felt the rest of the tests weren't really necessary based on what she'd seen.

So Whitney will be starting out as the most delayed member of her kindergarten class. Many of her classmates, mostly autistic children, can already walk, talk, write their name, use the bathroom and various other typical skills. I guess you could call me concerned about that. I'm hoping most of the struggle today was new people in a new place. I think Whitney will calm down and do well once she's there with the other children during class time. But can she learn as quickly as she's expected to? I hope she'll give it her best shot. And in the mean time, I'm expressing my father's right to worry.

Conference Experiences

2009-08-10T19:10:00.003-06:00

The notes I've posted from speakers at the conference don't fully capture a lot of what goes on there. The information is extremely valuable, but a lot of what makes attending these conferences great is being with others.

There aren't too many places you can go and find so many other families who can relate to the challenges and joys of raising a 1p36 Deletion child. This year there were actually 36 different families registered to be at the conference. And we had a great time with them!

Whitney quickly realized she was among friends as well. Melanie and Whitney came in the back door of the conference room Saturday afternoon and Whitney saw Kate, one of the other 1p36 kids. Whit stopped and turned to Melanie. She pointed at Kate and then signed "Whitney." Melanie didn't understand at first. Then it dawned on her. Whitney was telling Melanie that she realized that Kate was like her. "Kate is like me," she was saying. Then, of course she gave Kate a hug. How profound that a little one as challenged as Whitney is, can recognize others like herself and love them for how special they are. I was really touched.

There were so many great little moments like that with other children in their families. My family can't put a price on the value of being together with the rest of the group. We absolutely love it. We're really looking forward to being together with everyone again soon.

Clinical Observations on 1p36 Deletion Syndrome - Dr. Anthony Perszyk MD

2009-08-01T18:01:00.001-06:00

Watch and treat vision, hypotonia and heart issues. Low muscle tone is an issue, but there are also issues with fatigue and diet that can lead to weakness.

Heart muscle thickness or contraction patterns can be an issue. Watch this carefully. Pressure and other problems can be controlled through medication.

Brain development continues through childhood should be examined regularly. 1p36 patients have delayed maturation. This causes the delays in functions like sitting, standing walking, speaking, etc. It doesn't mean you won't get there. It just takes more time to fully finish that development.

Seizure control medications can further delay development. Seizures must be controlled in order to allow for progress, but because medications can also inhibit progress, it's a fine line to walk. MRIs are safe (no radiation) and should be used as needed to examine the structure of the brain. As the brain matures hearing and vision can improve.

1p36 Deletion patients are small at birth and below the curve in 2 and 3 year olds. Growth does eventually come along. There is worry about how much is nutritional. Long term we'll be able to learn more. More data is needed for a proper growth chart. Dr. Perszyk especially needs more data for patients older than two or three years of age.

Genes involved in 1p36 Deletions may lead to low weight when young. Then obesity later in life. We'll be watching this issue in the data. Having a growth chart will help to better track this.

Thyroid testing should take place regularly. Watching bone age and health is also recommended.

Most importantly, if you find that a therapist or doctor is defining limits for your child and he or she tells you they've gone as far as they can, go find a new doctor or therapist. Don't let them put limits on your children.

Gastrointestinal Issues in 1p36 Deletion Patients - Dr. Kevin Bax, MD

2009-08-01T11:46:00.001-06:00

Issues we've seen are constipation, dysphagia, feeding difficulties, reflux. These are the most common. Hard stools and cramping are common. Treating early and properly can take care of almost all the issues that patients suffer.

In 1p36 Deletion patients that suffer Chronic Constipation sometimes don't want to have a BM and they pull their anal sphincter shut. This is a behavioral issue. This is where the pain begins. Often, laxative is enough to help this. Laxatives are very safe treatment even for small children. Don't stop treatment when the child gets regular, because you're helping overcome the behavior aspect of the problem.

Miralax is a very safe laxative that can be used without fear of addiction or electrolyte imbalance. Helps to balance the system and lead to greater comfort all the time. Mineral oil is another treatment that must be used with more care. It can have some other effects.

Prolonged use of Miralax may indicate a bigger problem that may stem from connections of the nervous system and the colon. Miralax can be safely mixed with about anything. It's tougher to get it dissolved in milk.

PEG 3350 is a fiber replacement that can help. It adds dietary fiber to assist in keeping kids regular. Adding fiber only helps about half the patients. Benefiber has soluble and insoluble fiber to help keep stool soft but also have bulk to allow it to pass.

Pyloric Stenosis occurs in some 1p36 patients. It's also a nerve connection issue. Can lead o failure to thrive.

Swallowing is the most challenging neurological thing we do. It's tougher than walking or talking. Learning to swallow can be difficult, but it's essential. Typical children learn to such and swallow in the womb. 1p36 children have to learn to swallow with assistance. Sometimes, 2 to 4 month olds actually develop swallowing issues because of the growth of the throat and change in voice box position.

Reflux is another common problem. Some spit up and some don't, but either way, stomach fluid leaks into the esophagus. The stomach is always moving and neurologically the valve at the top of the stomach may open when it's not supposed to. This may be a neurological problem too. Prevacid is a good way to handle pain from reflux and tastes pretty good for children. Some recent studies show that Prevacid doesn't change the amount of reflux, but it does help with the pain and discomfort associated with reflux.

If a child is eating enough, has gurgly burps and isn't growing. The child may be aspirating and the energy is going to fighting inflammation in the lungs. Don't give up in working on your case. Make sure things get addressed so the child can grow and be as comfortable as possible.

A note about Gastrostomy tubes for feeding. This is very sensitive, but one thing is certain, it's better than having a nasalgastric tube in the back of the throat for more than a month or two. If it's going to be a longer amount of time, a G Tube may be very helpful.

Genetics Update - Lisa Shaffer PhD

2009-08-01T11:46:00.000-06:00

Thanks to the families who have participated in the studies. 157 participants so far. About a half of a percent of all births have a chromosomal abnormality. 1 in 5000 births is a 1p36 Deletion. The end of the first chromosome is difficult to see. Microscopes simply cannot see in enough detail to make a 1p36 diagnosis.

Microarray testing is making much more reliable results available. Microarray testing allows for a comparison of control DNA and the patients DNA and any differences like a deletion or translocation are immediately apparent.

There is an increased risk of other 1p36 Deletions in future children even if neither parent has a balanced translocation. The cell creating the eggs or sperm are missing that information on 1p. There are clinics that can perform genetic analysis of the eggs and sperm during fertilization. The risk of subsequent children being born with a 1p36 deletion is about 1%. This is higher than the risk in the general population.

Although it's rare the cell responsible for the production of 1p deleted sex cells must be there because the deleted regions are identical in the siblings. Blood testing to be a part of Dr. Shaffer's study can be sent to her. Going to Spokane isn't required. The families have to contact Dr Shaffer. Because of privacy laws, Dr Shaffer can't contact the families when a positive diagnosis is made at her lab.

Deletion sizes are very different and distinct between patients. The average size of the deletion is 2 to 2.5 megabases. Often the break point is 2 megabases in on the chromosome. Deletion size doesn't seem to correlate to the symptoms or severity of the child's health difficulties.

In the study, about 50% have terminal deletions, 33% have interstitial deletions and the rest are complex rearrangements. The most common breakpoint is at 1p36.33. But there are many others in the surrounding area.

Dr Shaffer is now working to identify the genes that cause the clinical features. This will aid in identifying targets for treatment. Catching the symptoms and treatments early is very helpful. KCNAB2 - may contribute to seizure activity. MMP23 may contribute to the large late closing fontanelles. SKI - implicated in clefting abnormalities. Tracking cases with smaller deletions allows the study to tie the genes to the clinical features. Comparing genotypes of different cases and their clinical cases is assisting in identifying the individual genes that are associated with different symptoms.

Josh Milner is putting together a study about allergies and and associated genes. He's like contact from individuals in our group who have allergies, old sores, thin skin, heart abnormalities, etc. He can be reached at jdmilner@niaid.nih.gov.

Know your rights regarding sharing your medical information. If you are contacted by a researcher, make sure they are working with their Institutional Review Board (IRB). Each university has one to determine ethics and protection of patient's personal data. Do not participate in non-IRB approved studies. Don't participate in studies that you are not comfortable with. Know your rights and don't be pushed around. Ask about purposes, risks, processes, costs, etc.

Special Needs Estate Planning - Gordon Homes

2009-08-01T11:45:00.000-06:00

Met Life has programs tailored especially for dependents with special needs. See www.gordonhomes.metlife.com for more details. Some information will vary from state to state and country to country. But the fundamentals are the same.

Looming question, What happens when you're not around? What do we need to prepare for? Caregiver parents' skills are nearly impossible to replace. We leave big shoes to fill.

Have you made arrangements to leave your special needs child the money they'll need in a trust? Have you identified a care giver? Have you named your special needs child as a beneficiary of any life insurance or retirement funds? The answers to these questions are not the same as with typical dependents.

Make sure you have a will in place. You need to be in control of what happens to your assets. Choose an executor you trust. Specify a guardian for your children. Fulfill any special requests.

Consider creating a trust. Especially in the case of children and special needs dependents.

Be aware that if you leave more than $2,000 to a special needs child, the government will revoke eligibility for more government benefits. Make sure you take maximum advantage of public programs. Otherwise they may not have the care they need.

When turning age 18 special needs patients qualify for Supplemental Security Income, unless they have assets left that are above the Federal Limit. There may be other limits in the states for Medicaid. Most states are $2,000 are less.

Medicaid waivers are administered by the state for healthcare services. They waive the need for the services to be performed in an institution and they waive the requirements regarding income limits. They may be wait listed. Get on the list now and by the time the group policies expire or reach their limits you will likely have coverage under the Medicaid Waivers. This is not regular Medicaid.

Social Security Disability benefits are available if a parent has a triggering event. (Retirement, disability, etc.)

Find an advisor who understands and can assist you with the various services available to you and your family. Look into setting up a special needs trust. Money can be placed here for help and is not counted against the $2,000 limit that gives access to the public programs for health and wellness. Leave money to the special needs trust and not hte special needs child or grandchild.

A letter of intent is a document to pass on information regarding care and help for the special needs dependent. Describe needs of the child and the care they require.

Life insurance is a popular way to fund a special needs trust because they don't go through probate. Again, don't designate the special needs dependent as the beneficiary. Specify the special needs trust instead.

Survivorship life coverage can be helpful. It's inexpensive because there is no payout until the second person covered passes away. A large amount of coverage can be purchased and set up to pay out into the special needs child's trust.

Start the planning effort with an estate planner and financial specialist. It will take both working together to do a complete job.