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Discussion Starter · #1 ·
on his blood draw taken last May 24 (about 9 weeks ago)!

His assistant called and I was hoping she wasn't going to reschedule us.

The doctor thinks my son has part of his 22nd chromosome missing. He's apraxic, dysarthric, has syndactly (and after surgery only 4 fingers and 2 thumbs and one thumb is finger-like), hypospadia (corrected at 8 mos surgically), SID, hydronephrosis, hypotonia, slight microcephaly (head circumference first percentile), resistent eater, and a broad nasal bridge.

I don't think the results will change anything but I am getting curious after 9 weeks of waiting on the results.

I wonder if he'll have heart problems? I have a heart murmur. I was also born with craniosyntosis (sp?) but my mom won't tell me much... (I had no soft spots - I was born with a fused skull)

What should I ask? DH is coming too so we can both ask questions.

Sincerely,
Debra, homeschooling mom of 4 ages 9 1/2, 8 1/2, 6 1/2, and 37 mos
 

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That is so hard to wait on genetics results like that. I'm impressed you sound so calm! No advice but best of luck to you. I think it is good you can both be there and hopefully you will be able to take notes too.
 

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No answers!

The tests came out fine which means my son has all of his 22nd chromosome.

The doctor said maybe he has split hand syndrome? He doesn't have amniotic band syndrome (aka Streeter's Syndrome).

He said maybe by the time my son was ready to start a family there would be new genetic tests. My son may be the first of his kind of genetic mutation. The doctor thinks he has a 50/50 chance of having a child with his birth defects. That is a sobering thought. I had a tubal 2 years after he was born but he was my fourth...

The speech delays are probably coincidental. As long as he is in intensive speech therapy he feels he will be understandable.

The only time I felt like crying was when the doctor said my son would soon notice a difference in his hands and that he would need support as he becomes a teenager. We're homeschoolers so I feel to some degree my son will have good self-esteem because he won't be stuck in school and picked on for something he cannot change and had no control over.

*I called my son's hand surgeon a week in advance to check out my son's x-rays from 3 years ago and bring with me to the geneticist. The scheduler said to call on the day I needed them and they would be at the receptionist's desk. I call this monring and am told they don't have them (they're in storage). I was so mad I cried after I hung up. Why could no one tell me how to get old x-rays? I told them the first time they x-rays weren't current! Aaahhh!
 

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Hi,
My son has CHARGE Syndrome and his genetic testing was normal. There are some that have a gene mutation and some don't. I know what you mean about how your son will notice his hands are different. Jonathon has a tracheostomy, which he will get rid of at some point....but the scar will remain as well as his right ear looks kinda elf like without a ear lobe. He also has a lazy eye and a larger than normal size head. All we as parents can do is instill values and hope to give them the the love and attention and everything else that will help our "Special Deliveries" cope with life's challenges day by day while holding their heads up high.
They are certainly unique, but loved none the less!
 
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