Shaun
Partial Trisomy 16q(24.1)
Shaun was born 2 weeks late with a normal pregnancy in April of 1994. We had no family history to worry about. When it was discovered that he had a Ventricular Septal Defect we were shocked, We were told he'd need surgery at about 6 months, as the VSD would not close on its own. At one month and 1 day old his breathing abruptly changed. We took him to the pediatrician and then the cardiologist. He was diagnosed with a coarctation of the aorta. Both of these congenital defects were repaired 2 days later. His heart is fine. He has no limits and is on no medication.
When he was 9 months old, we moved to a new town and doctor. The doctor became concerned with discrepancies in head circumference readings, and had suspected that Shaun had cranial stenosis. A CAT scan showed that to be incorrect, but did alert them to an abnormality. A MRI confirmed that he had one enlarged ventricle of the brain. They checked for internal hemorrhage, and thankfully didn't find one. It was determined that it was a birth defect. He was diagnosed with Static Encephalopathy-non progressive.
Shaun is developmentally delayed all across the spectrum. He began receiving therapy by 18 months. He first rolled at about the right time, and could sit up (though he sagged) at 10 months. At 11 months he army crawled and began to "cruise" at 15 months. Speech was absent, accept for a few guttural sounds.
I was told by his PT that it would take years for him to get the balance necessary and develop the muscle strength to walk unaided. Literally 2 days later he let go of the furniture and walked unaided across the room. It was a great day.
At about 4 years old, he was diagnosed with severe oral apraxia, a motor planning problem that is similar to what happens when an adult suffers a stroke and loses his ability to speak. It is physically impossible for him to make his muscles do things voluntarily. Unlike recovering stroke victims who at one time could speak and need only to relearn, Shaun has no such base. He must be taught absolutely everything from how to suck on a straw, blow, swallow, stick out his tongue, where to place his tongue to formulate sounds, etc. Thanks to a phenomenal speech therapist that specializes in this disorder he is making great progress. His first therapist said he would rely mainly on augmented speech, and sign and would most likely never speak. Since starting with his current therapist his vocabulary has grown from 2 words to 40 + in just 1 year. It will still take a long time for him to overcome this disorder, but he will.
Shaun has continued to progress. He does so in a somewhat spiked manor. He has some skills that are way beyond his age, and then some that should accomplished but are still emerging. He is an average of 3 -31/2 developmentally behind his actual age.
In January 1999, we consulted with geneticist to try to find a reason for his disability. They suspected De George Syndrome and were startled to find that he had a Chromosome 16 abnormality at 16q 24.1. They had never encountered this before, and were unable to find any reported cases that involved the same break point. There is no other chromosomal material involved. It was determined that this was a de novo occurrence. His younger sister is unaffected. We had always known that Shaun was one of God's special kids, now we knew for sure.
Shaun is due to start Kindergarten this fall (2000), we expect that he will transition well. He will receive pt/ot/speech through school and will have an aide. Privately he will receive pt and speech.
As there are no other children known to have this precise break point, we can only speculate on his future. There are no new medical issues expected. He will have a normal life expectancy, and will be mostly independent. Nothing is known about his cognitive abilities, so far he has not cooperated when given the tests. I think given the nature of his issues, and vast amount of information unknown it is to soon to tell. The school... well they have a different opinion. and that is another story.
Finding out about DOC 16 Foundation has been a God send for us. Through them we found that we are not alone. Our doctors are now aware of DOC too. If we can be of any help to other families, feel free to contact us.
UPDATE NOVEMBER 2004
Wow what a lot has gone on since our joining DOC. Shaun is now 10 and
doing great. He has overcome most of his Gross motor delays- though he
still lacks confidence in some areas but we're working on that! His Fine
motor delays are getting smaller and smaller too- now we are
concentrating on self care issues, buttons, zippers, tying shoes,
handwriting etc. Speech has also progressed. At last writing he had
virtually no speech- now he is about 50% intelligible to non -family/
friends (75-95% for the rest) and improving daily. He has high receptive
language skills, but due to some mild-moderate apraxia, and motor
planning issues his expressive skills are low. He receives weekly
private speech and occupational therapy and daily in school speech.- He
was recently released from in school Physical Therapy and Occupational
Therapy.
Overall, his health has been great. Most recently he was diagnosed with a severe esophageal stricture and had to undergo out patient surgeries to return to normal functioning. Then to ensure no reoccurrences he underwent funduplication/hiatal hernia repair surgery this past September. He has recovered well, and is enjoying being able to eat what ever he pleases without difficulty.
He did have some difficulty with a vocal tic, and high frustration issues. These were a problem for some time, but now are well under control. It is his doctors and our opinion that the severity of his esophageal difficulties played a big part in their development, and now that the problem is rectified- so are they. The vocal tic reappears briefly every once in a while but is nothing like it was .
All of Shaun's other health issues (congenital heart defect, enlarged ventricle of brain) have remained virtually non-issues aside from the usual checkups.
We are extremely grateful that he has been able to recover from the most serious issues, and can finally begin to enjoy just being a kid!