1p36 Deletion Syndrome Resources

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.

Follow the 1p36 Deletion Annual Conference Online

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.

Ashlyn's Smile

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.

Conference Activities: Zoo, Fountain and Children's Museum

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

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

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

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

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

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.

Odds and Ends

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?

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

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

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

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

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.

Therapist Panel - PT, OT, RD, ST

Occupational Therapy
Lily's First Steps therapists. At the beginning of therapy Lily had muscle tone issues, lack of eye contact, feeding troubles.no reaching for toys. This was prior to Lily's diagnosis, but they knew things were not right. Bilateral coordination was difficult.

Placement of a feeding tube allowed Lily to get sufficient nutrients. Lily's disposition is much happier. She's begun to vocalize. She crawls and is coordinated. Lily has become very eager and assertive. Shiny, noisy, tactile toys are her favorites. Lily has begun to learn sign. Repetition is a huge help because motor planning is an issue. Doing things over and over really helps.

Physical Therapy
At the start Lily was rolling, but unable to sit unassisted. Very little midline strength. Lily is now 26 months old and can stand, crawl and they're working on pulling up to a stand and transitioning from sitting to standing. Lily gets PT twice a week along with other therapies throughout the week.

Lily wears orthotics to help her ankles not to rotate inward. This is similar to Whitney. With the braces, Lily tolerates standing much better.

Speech Therapy
Lily works on speech therapy twice a week as well. A large portion of the therapy is centered around feeding. At first Lily was very gaggy and actively fought eating. After 16 months of work, she is swallowing much better and eating has become something she enjoys. Upper body stability has helped her a lot in feeding. She's positioned better for eating and swallowing.

Lily has nice jaw stabilization and movement that will aid her in moving toward talking.

Dietician
Feeding day after day is frustrating but keep at it. It will click with the child. Lily had a protein allergy that they had to work around to help her eat better.

Q: Fish Oil Supplements?
A: Effects are anecdotal. Some say it's of benefit others say there's no connection to improvement. Do not overdose with fatty acids. They are not water soluble and are more difficult for the body to clear out. This may reduce appetite because it stays in the system longer.

Q: Where to start with feeding?
A: Get a speech therapist, get a swallow study. Begin with oral stimulation. Gag reflex will be strong. The need to learn to work the tongue. Increase tongue motion and strength. The process is long but the result is valuable. Don't give up. Repetition is key.

Q: Are feeding tubes an easy way out?
A: This is a very personal situation that varies from child to child. Many need a tube to survive. Feeding then begins without food. Start with things like a wash cloth on the face. They need to gain comfort with oral touch and facial touch. Don't force the face and hands to start getting food in. Start with oral sensory exercises. Feeding is a marathon, not a sprint. G Tubes should be seen as an interim step not an end. G Tubes are better than a long term NG tube that runs down the throat. NG Tubes cause more gagging issues. It is possible to transition from a G Tube to full oral feeding.

Q: Hyperbaric Oxygen Chamber therapy?
A: The jury is still out on this. Some children respond well to this, but there haven't been enough studies to know the benefit. It is extremely costly. Some do see positive changes. But can they be maintained after the therapy. Do your homework before you make a decision on such a large investment.

Q: Where to start with speech?
A: Repetition is good but avoid "echoing." "Can you say dog? Dog." That's not true communication. Picture exchange communication can be a good place to start. Pictures of things the child needs or wants. Can be actual photos or drawings. Then move up to signs or words. This is a fine way to start even though it's not speech yet. Do labelling. Start with one word for an object. "Cup" Repeat and don't elaborate on it.

Remember that not each interaction has to be therapy. Don't let things overwhelm you. Just work things into your daily routine. Make it fit your life. Don't reschedule your entire life around therapy. It'll be too much. Pick goals for the week and focus, but don't overdo it. Just work it into your day.

1p36 Deletion Support and Awareness Conference is Under Way!

Whitney, Liam, Melanie and I arrived in Indianapolis, Indiana this evening along with Whit's grandparents to attend the third annual 1p36 Deletion Support & Awareness Conference. Things kicked off with registration and a parents session. There was some great Q&A time with different 1p36 family members representing parents, patients, siblings, etc. each fielding questions from others.

Tomorrow is a full docket of speakers followed by a movie and pool party in the evening. I'll try to post summaries of the sessions right here for those interested.

Already it's been fun to see members of our 1p36 family that we haven't been with since last year in Boston. When you don't see these amazing little ones for almost a year, it's shocking to see the progress they make while we're apart. So many are sitting up, taking steps, saying words and showing us other miracles, when they couldn't only a year ago. It's truly inspiring!

(In the photo, Tabitha and Whitney relaxing during the family Q&A.)

New 1p36 Deletion Syndrome Forum

Christina, one of the moderators of the 1p36 Deletion Syndrome Yahoo! Group, has been working hard to create a new forum for our support group. The new forum has many benefits over the Yahoo! Group because parents can discuss multiple topics in the different areas of the forum without overwhelming everyone with emails. Overwhelming email amounts has been a big problem as our Yahoo! Group has grown. However, if you still prefer to receive emails you can subscribe to different topics in the forums and when someone posts you'll get an email just like on Yahoo! We also have the ability to have live chats on the new forum. And we can add photos and videos right inside of our posts. These new message boards should also be able to handle the increasing size of our 1p36 family. There's room for everyone!

The address for the new message boards is 1p36deletionsyndrome.proboards.com and you can sign up now. Just follow the link and create an account. To verify that only people with ties to the support group become members, Christina may send you a confirmation email and then you'll be able to start sharing with other members.

Thanks, Christina, for all your hard work. And I look forward to chatting with all of you on the new message boards.

Chromosomes and Monosomy 1p36

Lisa Shaffer, PhD, FACMG - Chromosomes and Monosomy 1p36

Dr. Bernice Morrow - Genetic Research in Mice and associate of Dr. Shaffer's - speaker possibility in 2009

Signature Genomics, Dr. Shaffer’s company, is growing well and will have a research budget for further study even though her grants were denied.  Families who would like to have a micro-array diagnosis can have that done through Dr. Shaffer’s research.  It requires a blood draw but the information gained is worth it.

The history of the occurrence numbers:  A study done on 60,000 newborns turned up 6 cases of 1p36 deletions which is where the 1 in 10,000 number came from.  However, many diagnoses took multiple tests to arrive, so they estimated that perhaps only half of the cases are diagnosed.  Which is where the estimate of 1 in 5,000 came from.

There are several variations of 1p36 deletions. .3, .2 are most common.  Micro-Array testing allows you to see the exact size of the deletion.  FISH testing isn’t as exact and the size of the deletion is much more difficult to determine.

Trisomy is more common than deletions.  They are easier to diagnose and are the leading cause of mental retardation in newborns.

Structural rearrangements are where DNA has moved to somewhere else even though the total amount is correct.  Some of these cause problems.  Some do not.

Terminal Deletions are where the tip of the chromosome comes up missing.  Interstitial Deletions are where there are two DNA breaks and material between them is missing.

Reciprocal Translocations are a rearrangement of the DNA pieces between different Chromosomes.

Micro-Array testing compares typical control DNA against the new sample and the test is run twice.  It’s highly accurate and much faster than the older FISH tests which were hit and miss.  This process is diagnosing many more chromosomal disorders in patients that were simply undiagnosed with FISH.

Micro-Array testing is also turning up more complex structure changes like small interstitial deletions in addition to terminal deletions.

197 cases of 1p rearrangements identified at Signature Genomics this year.

1994 to 2008 Research Project 150 families enrolled.  Looking at specific structures and breakpoints.  33 different breakpoints were cloned and characterized.

Studies revealed that larger deletions occur in sperm versus eggs just due to lesser error checking or other unidentified causes.

There are no common breakpoint locations.  Although terminal deletion breakpoints tend to cluster between 4 to 6 megabases.

Clinical features of 1p36 Deletions

Mental Retardation / Developmental Delays 100%

Large, late closing fontanels 97%

Cranioseynostosis 3% - early closing fontanels

Hearing Loss 82%

Epilepsy 48%

Heart Defects 43%

Growth Retardation 60%

Gastrointestinal troubles are now on the surveys that are sent out based on feedback from the support group.

There is NO correlation between deletion size and clinical features.  Current thinking is that the majority of the important genes are at the very end of 1p.

Identifying the individual genes that contribute to features, there are ways to develop better treatments for those individual clinical features.

Talk to your doctor about the individual clinical features in order to make sure your child is receiving the care he or she needs in those areas.

Organization and the Way Forward: Lessons from the Chromosome 18 Organization

Jannine Cody, Ph.D. - Chromosome 18 Registry and Research Society

The Chromosome 18 organization is very well set up to be able to assist families and individuals with a c 18 abnormality.

Create a plan to individually help the organization.  Garage sales and bake sales will do more than writing to Bill Gates for help.

He daughter’s diagnosis was like much of ours.  Very bleak outlook presented by the medical community.

The Chromosome 18 Registry - To help individuals with chromosome 18 abnormalities overcome the obstacles they face so they might lead to happy, healthy and productive lives.  They now have over 2,000 member families

They have a five member executive committee.  They act as a nominating committee to add coordinators for the rest of the board positions.  They have regional coordinators and each chapter has a budget.  Each member family has annual dues they pay to the organization.  They raise funds and hold an annual get together.

An office can be helpful so there is a central location for fund raising, communications, record keeping, etc.  Centralize all of these operations.  Once funds are sufficient, hire someone to perform these functions.  It may start with a very small part time role.

Be very financially responsible.  The 18 organization still uses the back side of each piece of paper.

Organization wide fundraisers Annually: 

Phantom Tea - tea party for individuals who may or may not personally attend.  The invitations are sent on behalf of an individual child in the group.  Each family sends five invitations to their friends along with a picture of the child and a little tea bag.  Held in December to coincide with the end of the tax year.

Regional charity golf tournament - have hole sponsors, sell mulligans, hole in one prizes for cars, have some prizes, but it’s not a true competition.  Ask for donations.  As a rule, don’t pay for anything.

Birdies for Charity - organizations that actually help raise money for organizations by counting birdies in a given golf tournament.  You can have your neighbors and friends pledge and the organization will do all the office work.  You just get a check in the end.

Corporations have money that has to be spent on charitable causes.  Why not ours?  Open up and approach them about it.

Regional fund raisers are smaller and can be whatever people are interested in.  Pampered Chef parties, dinners, comedy night, garage sales, etc.

The organization accomplishes their mission through:

Service - annual conference, meetings,

Education - Congressional testimony, find the appropriations committee members, Don’t underestimate the power of meeting these people and contacting them.  Promotions, Presentations (bracelets, pins, pens, brochures for fundraising and membership), raise awareness

Align with other Chromosomal Abnormality groups because we are stronger together.  

Research - Finding answers.  It’s about science, not black magic and we can find the answers.  Find ways to make things as right as we can.  No one cares as much as we do.  Rules to contact and study the families.  Must obtain the consent form.  Manage that at the organization level.  Establish a centralized research center so all the data for different things are together and a critical mass of useful patient information can be achieved.  The C 18 organization has a great deal of research resources and staff available.  Data analysis staff to compile the surveys into useful info for the families.

To reach everyone we must use the physicians.  This must be in the medical literature.

The greatest reason to have a conference is for the siblings of these affected kids.  Our kids will outlive us and it’s essential that the siblings will be there.  There is a focus group for the “sibs” every year for them to talk and solve problems.  They have needs too.  Survey the sibs to see what they understand and what they still need to learn.  Some sibs think “Will I catch this too?”

If it’s going to be, it’s up to me!

“If you don’t know where you are going you might end up someplace else.” - Yogi Berra  The goal is a cure.

1p36 Deletion Conference Agenda

Excitement is reaching fever pitch for this year's 1p36 Deletion Conference in Boston Massachusetts.  At last count there will be about 20 different families in attendance.  Here's a glance at what will be taking place:

Day 1 – Friday September 12th, 2008

6:00pm – 7:00pm Conference Registration - Conference Check-in, Conference Information Packets

6:00pm – 8:00pm Meet & Greet - Get to know the attending families

Day 2 – Saturday September 13th, 2008

8:00am - 9:00am Welcome & Introductions - Group Photo

9:00am - 10:30am Session 1: Lessons Learned in Creating and Running the Chromosome 18 Registry Presentation & Questions - Dr. Cody

10:30am - 10:45am Break

10:45am - 12:00pm Session 2: Clinical features of 1p36 & General Cytogenetics Presentation & Questions - Dr. Shaffer

12:15pm - 2:00pm Lunch / Break 

2:00pm – 3:30pm Session 3: 1p36 Study & Growth Charts Presentation & Questions - Dr Perszyk

3:30pm - 3:45pm Break

3:45pm – 4:45pm Session 4: Family Stories Share your family story with the group

4:45pm - 5:30pm Session 5: Next Conference / Committee / Outreach / Website / Fundraising

DAY 3 – Sunday September 14, 2008

8:00am – 9:00am Meet for Breakfast (Informal)

9:00am Family Activity

Thanks to Kate and Karen for all the hard work in getting this year's conference organized.  Stay close for all kinds of pictures and recaps of the sessions from this year's conference.