Epilogue

I started this blog in July of 2005, when blogs were popular and my special daughter, Whitney, was young and going through so much. My wife and I felt so alone as we cared for her many needs and struggled to understand what the future would bring us. I often wrote posts as a form of therapy for myself to aid in processing what I was going through. But I discovered that along, the way, others whose children were diagnosed with a 1p36 Deletion or even other medical issues, also found help in what I had shared.

Five years ago, blogs were on their way out, as social media began to take over as the dominant way of sharing online. At that same time, I found that life with Whitney was becoming more of a normal, everyday routine. In fact, I found that I really couldn’t remember life being any other way. So I stopped posting. But I left everything online as a resource for anyone who might need it.

This past weekend we attended the annual conference for families affected by 1p36 Deletion Syndrome. It was a wonderful experience. We spent time with families who completely understood our journey. Many were old friends we’ve now known for years. Others were brand new. We loved talking with them and sharing how wonderful it has been to discover the many things that Whitney can do. Things the doctors told us that Whit would never do. Several new families surprised me by saying this blog is still one of the first search results for 1p36 Deletion Syndrome. And they wondered how Whitney is doing now. So maybe it’s time for a short update.

The little girl I used to write about has now become a young woman. She is 15 years old and will start high school this fall. Whitney has been blessed with very good health considering the genetic info she’s missing. She doesn’t have any more seizures. Her strength and muscle tone aren’t too bad. She walks and runs and even dances. Just maybe not in quite the same way I’d envisioned before her diagnosis. She still has some moderate hearing loss but that doesn’t stop her from loving music. She goes to choir at school with the typical kids and loves singing along in her own way. She doesn’t quite form the words and she doesn’t quite carry the tune, but it’s still great singing to us.

For so many years, feeding, growth and weight gain were a battle we fought. These days, Whit is a picky eater, but she does eat well when she chooses to. And she’ll even raid the fridge and pantry to eat something when she feels like it. Just like a typical teen. Just yesterday we caught her at the kitchen table with a salad she’d put together herself with lettuce and ranch dressing she got from the fridge. And she consumes more potato chips than anyone else in the house! Whit’s growth curve is well below what a typical child’s would be, but she’s healthy and didn’t ever need a G-tube or other feeding device.

Whitney loves to participate in activities with other teens her age at the church we attend. She knows the girls and interacts with them in her own Whitney way. She has a small toy horse and a small toy tiger that she often takes to activities and invites the girls to pet. It’s kind of a Whitney greeting and the kids are all good about petting the horse or the tiger.

Whit also loves camping and being in the outdoors. She signs for camping and we try to get out a couple times a year. She also loves going for walks. Her strength and ability to walk has improved significantly since a surgery to straighten her left leg last spring. When we see a dog out for a walk, Whitney is hard to keep up with as she runs to pet it.

We are working to find ways to make her life as fulfilling as possible. We’re not great at it yet, but we try to let Whitney make as many choices as possible. This might be with regard to what she wears or eats. Other times it has to do with activities she participates in. She ended up in choir because she asked to be there when it was time for school registration. We discovered that Whitney loves carousels, ferris wheels and roller coasters. She asked to go on a bunch of them as we vacationed in California earlier this summer. She likes to pick which animal she’s going to ride. And sometimes she picks a roller coaster so wild we have to help hold her head up on the turns. But she loves that tickle in her stomach the rides give her and she always laughs afterward.

I love seeing the person she is becoming. We celebrate the victories she wins more than with our other children because they hard-fought. But there have been a lot of them! And for that I’m grateful.

I’m also grateful to be a part of a group of peers who understand the road that my family is walking. The non-profit organization 1p36 Deletion Support & Awareness has done so much to connect us with other families and great information. I can’t say thank you enough to those who serve in that organization and those who participate in the connected Facebook group. If your child has some other struggle, I encourage you to find a similar place to share with others. It helps so much to interact with people who understand.

And so, my friends, if you’ve discovered this old blog because your child has recently been diagnosed with something that seems like it might just bring your world crashing down, please don’t forget, that there will be good times too. So many good times. Raising a special needs child is a roller coaster ride of its own. With higher highs and lower lows than almost any other ride you could experience in life. And I wouldn’t trade that ride for anything! Keep putting one foot in front of the other and before you realize it, you’ll be able to look back and celebrate all of the wonderful things you and your special child have accomplished together.

Raising Awereness about Another Important Cause

I've been away a bit just enjoying springtime with the family, but I got an interesting email from a reader a couple of weeks back.  Her name is Heather Von St. James and she's a cancer survivor.  Her story is one I wanted to share, especially because the cause of her cancer is 100% preventable.  You see, Heather was diagnosed with mesothelioma; a rare and deadly cancer caused by exposure to asbestos.  She's made it part of her life's mission to spread the word about the dangers of asbestos and the fact that it can be found in all kinds of products and locations around the US.  Thirty million pounds of it are still being used each year in new products the US.  I had no idea that was the case.  Did you?  It's the number one cause of occupational cancer in the US and we can help stop it.

 

Please take a moment and read more about Heather's journey and how we can all help by visiting http://www.mesothelioma.com/heather/awareness/  And thanks for taking the time!

 

 

Knee Improvements

Whitney went over two months without walking starting in January.  We saw a doctor at an instacare who insisted her leg was broken and put her in a cast.  But after the cast came off Whit still couldn't walk.  Her knee was inflamed and swollen and she wouldn't put any weight on it.  Next it was the orthopedic surgeon's turn.  He looked at Whit's X-rays and said there was no sign of a break in the original films and no sign of any healing in the new X-rays he ordered.  He suggested we get an MRI and look at the soft tissues in her knee.  When those came back, the various ligaments and tendons also looked fine.  That was a relief but we still didn't have an explanation for the pain and swelling in Whit's knee.

Next we headed to see a rheumatologist.  After examining Whitney, he diagnosed her with knee effusion.  He ordered some blood tests to determine the cause.  He was leaning toward arthritis but wanted more information.  So after the blood tests came back, we've been able to rule out rheumatoid arthritis.  We're glad Whit's immune system isn't attacking her joints.  But she does seem to have a juvenile form of arthritis affecting her knee.  The rheumatologist has prescribed some heavy duty anti-inflammatory medicine and scheduled some follow-ups with us.

The good news is that Whit has responded pretty well to the medications along with some steaming hot baths with epsom salt.  The swelling has gone down a bunch.  She's been able to walk pretty confidently for the last week although she limps badly and she's pretty tired by the end of the day.  In spite of that Whitney's happy to be able to get around again and she's even gone to school without the wheelchair for several days.

If things continue to be difficult for her, we can consider steroid shots for her knee.  But we'll take things slowly.  We'll see what the anti-inflammatory medicines can do for her first.  We'll also probably try a knee brace to give her knee some extra support.

It's good to be on the road to recovery again.  Thanks to everyone who's been so concerned about Whitney during this whole episode.  We really appreciate it and we're thrilled that Whit is back on her feet.  Hopefully, there will be more progress to come.

Willing Protector

Three years after Whitney was born with all of her complications and challenges, Melanie and I welcomed a son to our family.  We named him Liam in the hope that someday he can help be a protector for his older sister.  Liam is a short form of William or Wilhelm, which means willing protector in German.

Liam is just turning seven but we're already seeing inklings of his ability to look after Whitney.  The other night as I was tucking Whit in for bed, Liam came in and asked her if she would like him to read her a story.  She nodded and Liam picked up Fox in Socks, one of Whitney's favorite books.  Liam proceeded to sit down on the night stand next to Whitney's bed, reading and showing her the pictures.  I stood quietly in the doorway to Whit's room and listened.

Moments like this are still pretty rare in our home, but Liam seems to innately comprehend that Whit needs a little extra help with things.  He doesn't usually get too impatient and he's starting to understand that, even though he's the little brother, he can provide some of the help Whit needs.  It's early yet, but I have high hopes that he'll be there for Whitney sometime down the road when she really needs him.

Weak in the Knees

Some of you may have noticed the date for Whitney to get her cast off came and went without an update from me.  That's because things haven't been going all that well.  After four weeks x-rays were taken of Whitney's knee and the cast was removed.  We hoped that would be all Whit needed to get back on her feet.  But Whitney's knee became extremely swollen and continues to cause her all kinds of pain.  She refuses to put any weight on her leg and she can't straighten that knee.  She has some motion in it and her ankle recovered from post-cast stiffness quite quickly.

So what is going on with her knee?  It was off to the orthopedic surgeon to find out.  He took a look at Whit's x-rays from before and after the cast and said there was no sign of a break in her tibia in either one.  So someone blew it and wasted a month of time that could have been used to help Whit recover.  The surgeon's opinion is that there is something wrong in the soft tissue of her knee that is causing the pain, swelling and reduced motion.  He sent us off to get an MRI of the joint so he could understand better what is happening.

So one more sedation and an MRI of her knee later, the surgeon's assistant has told us Whitney has a joint fusion involving the tissues in her knee.  This is better than having a problem where bone is grinding on bone.  But we've still got to figure out how to get rid of Whit's pain and get her on her feet again.  Her orthopedic surgeon is out of the office this week, but hopefully, next week he'll return with a plan.  We've been told it will likely involve a sedated session of manipulating her knee to get things to move back into place and start working again.  But we won't know for sure until next week at the earliest.

Melanie and I have been carrying Whitney around the house for six weeks now and using a borrowed wheelchair when Whit needs to go anywhere else.  Our backs are both shot.  Not to mention Whit's continued pain and frustration.  So we're praying for a correct diagnosis and some effective treatment that will get her back on her feet soon.

Taking Responsibility

During the daily rush of helping Whitney get dressed, off to school on time and countless other things, it's easy to set aside teaching important lessons.  Melanie is better than I am about taking advantage of teaching moments.  So when I see something new it often comes as a surprise.  Even when it's been something Melanie has been working on for some time.

For example, Whitney got into some things in our basement and made a big mess that Melanie and I had to clean up.  Whit knew she had done something wrong even before cleanup was done and punishment time began.  She came over and got our attention and signed, "I'm sorry."

Now that's a small thing, I realize.  But I was so surprise and pleased.  It represents the fact that Whitney, on her own, realized she had caused a problem that Melanie and I were having to handle.  She realized that she was responsible and chose to apologize all by herself.  She's beginning to take responsibility for her actions and apologize when she does something wrong.  And she's picking it up pretty early in life, too.  I think we all encounter adults who still haven't mastered this.

I'm grateful to have a daughter who is responsible, self-aware and has such a good heart.  Maybe one day she'll learn not to make the kind of messes she sometimes does.  But in the mean time a sincere "sorry" sure makes a big difference.

A Cast Is A Lousy Birthday Present

 We celebrated Whitney's 10th birthday list past week.  Many family members came by to celebrate and spend time with her.  She got some really fun gifts.  (We decided against the iPad, by the way.  It seemed like a bit much for a 10 year old.)

But Whitney wasn't feeling too well during all this celebrating.  On Saturday, Whitney kept telling us that her knee hurt and refused to put any weight on her left leg.  Melanie took her to the weekend instacare near our house where they took x-rays in case something was broken, but everything looked okay.

We decided to let her rest her leg and see if it got any better.  But by a couple of days later it was obvious Whitney wasn't improving.  She wouldn't stand on it.  She kept telling us it hurt and so it was time to go back to the doctor's.  Thankfully, during the week we're much more able to get into our regular pediatrician's office.  They took some new x-rays and spotted a break.

Sometime, most likely Saturday morning, Whitney stress fractured the top of of her left tibia.  The instacare doctor over the weekend missed it but the pediatrician said this was the kind of break that doesn't happen as much in adults.  He sees a lot of children with this kind of break.  It usually happens in the summer, when kids are jumping on trampolines.

So it was time for Whitney to get a big pink cast.  It goes from her toes all the way up to her hip in order to completely immobilize her knee and allow it to heal.  Whit will have to wear it for four weeks and then they'll take new x-rays to see how things are healing.  Luckily, Whit will be off track from school for most of that time.  She's just been resting around the house and keeping weight off her leg.  Once the cast was on, her pain went away.  So now the major issue is just boredom.

This is actually Whitney's second pink cast.  Once when she was about 18 months old she fell from a standing position and caught herself with her arm which broke both of the bones in her lower arm.

I'm wondering if her bone density is an issue.  So we'll have to do a good job of protecting her from falls and bumps.  The only thing we can think of that may have caused her leg injury is jumping.  She does that sometimes when she's excited and she was excited to play with Melanie's iPad Saturday morning.

Thanks to everyone who's sent her well wishes.  Whitney is healing well, but next year we'll have to remember that a cast really is a lousy birthday present.  Maybe next time she'll finally get that iPad she really wanted.