My Miracle Baby
I finally got to speak to a new geneticist to find first hand info about Smiley's genetic issues. Sorry if this is difficult to follow, but I will explain as best as I can:
1. There is no other documented case like Smileys.
2. On Chromosome 15, he should have a pair of two chromosomes. One piece of the chromosome was copied twice(4 copies of that piece) and another part was copied once (3 copies instead of 2)
3. The genes affected explain the developmental delays, low weight, small head, and nonverbal. One of these genes is reponsible for Angelman syndrome, so he may have some of the characteristics, but in Angelman, a piece of the chromosome was deleted, his part was triplicated.
4. He beat the odds that he is here with us today. The egg with the chromosomal defect should not have been able to fertilize. bio mom normally would miscarry early on, have a still birth and he would have died the first year of life. It is a miracle that he escaped heart complications and kidney problems normally experienced by similiar children. His lifespan should not be significantly shortened.
5. I asked him what to expect developmentally and there are no positive answers obviously, but asked what I should expect based on similar cases: He will need to be cared for the rest of his life. He will probably have severe/profound mental retardation. He should walk but probably will not potty train or talk/communicate. He will probably always be a baby/toddler.
He was a wonderful doctor, very positive. I had to kinda pry to get more realistic information. I'm not ashamed, but I want a realistic picture of what to expect. I need to plan for the future since it is likely he will outlive us. I have to figure out who will care for them when we are no longer around.
The doctor asked how I was taking in the news. I told him it wasn't a lot I hadn't expected, but good to know what was causing his problems and what to realistically expect.
1. There is no other documented case like Smileys.
2. On Chromosome 15, he should have a pair of two chromosomes. One piece of the chromosome was copied twice(4 copies of that piece) and another part was copied once (3 copies instead of 2)
3. The genes affected explain the developmental delays, low weight, small head, and nonverbal. One of these genes is reponsible for Angelman syndrome, so he may have some of the characteristics, but in Angelman, a piece of the chromosome was deleted, his part was triplicated.
4. He beat the odds that he is here with us today. The egg with the chromosomal defect should not have been able to fertilize. bio mom normally would miscarry early on, have a still birth and he would have died the first year of life. It is a miracle that he escaped heart complications and kidney problems normally experienced by similiar children. His lifespan should not be significantly shortened.
5. I asked him what to expect developmentally and there are no positive answers obviously, but asked what I should expect based on similar cases: He will need to be cared for the rest of his life. He will probably have severe/profound mental retardation. He should walk but probably will not potty train or talk/communicate. He will probably always be a baby/toddler.
He was a wonderful doctor, very positive. I had to kinda pry to get more realistic information. I'm not ashamed, but I want a realistic picture of what to expect. I need to plan for the future since it is likely he will outlive us. I have to figure out who will care for them when we are no longer around.
The doctor asked how I was taking in the news. I told him it wasn't a lot I hadn't expected, but good to know what was causing his problems and what to realistically expect.
posted by Lisa @ 10:30 AM
8 Comments:
At 10:55 AM,
The Semi-Domesticated Mama said…
I have a chromosome 15 baby too but he's missing the long arm which resulted in Prader Willi Syndrome. Prader Willi has most of the same characteristics of Angleman syndrome. We were given a grim prognosis of his abilities and future a few years ago and I'm pleased to say that Boy2 has now surpassed every single thing the geneticist predicted that he'd be able to do. He walks, he runs, he's potty trained. He's in a mainstream Kindergarten class even though he also needs resource classes. They don't always know. Smiley is a strong kid, obviously. He might just surprise the heck out of them.
At 1:31 PM,
Unknown said…
You're a strong girl! Keep up the good Mommy-ing!
At 7:06 PM,
Rachel said…
How good to have a complete description of his genetic profile, and some idea what you might expect from him. He is very lucky to have you :).
At 12:14 AM,
JUST A MOM said…
WOW an answer... what a great gift,, if it were ME,, I would think the monster in the dark is NO MORE,, you at least have something to go on. What is up with bio mom's new baby?
At 11:09 AM,
Lisa said…
snarky,
prader willii was one of the disorders in the area of chromosome that was triplicated, but dr. says has more similarities to angelman. Email me. I'd love to talk more(lhotard79(at) yahoo.com). This genecist was hesitant to even say things he probably wouldn't do, I just asked what to realistically expect, and anything else will just be a blessing if it happens.
At 5:26 PM,
SD said…
I see it more like your first commenter. Your Doc sounds like a good guy, honest, detailed info, no false hopes or expectations given to you. That is a sign of a good Doctor I think, he does not want to set you up for anything. But I really think like your first commenter...Smiley has the potential to really surprise you! It must be no coincidence he ended up having an educator for a Mom. I think you may be surprised what the little guy acheives. So far, he already beat the odds by being born...He is here to stay for a reason!! I put my money on Smiley not the Geneticist! GO SMILEY!! :-)
At 9:53 PM,
MommyNay said…
My daughter has multiple chromosomal abnormalities including a deletion on 15q. shes come a LONG way since age 3, now at age 6 she is in a special day class K-2 and is pre reading, counting, and is potty trained. She is low IQ though we aren't convinced yet she is MR. She has so man other contributing factors to her development that we are still waiting to see. Im glad you were able to get some answers and ideas. I have another child who is MR though hers isn't genetically related it can be overwhelming some times thinking about the long term.
At 11:04 AM,
StarfishMom said…
HE is a MIRACLE!!! But you didn't need a doctor to tell you that! :) You are blessed!
savingstarfish.blogspot.com
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