Connor's chromosome results are back, they show a small deletion in chromosome 12. As yet the report states that it is not known how small the deletion is but they need bloods from H and me. So I've still not got answers. Googling (I know, I know!) does not fit with 'mental delay', he is bright, currently cruising around the furniture, babbling, shouting, understands words - wave, clap hands etc. I hope the deletion turns out to be small and that it doesn't have too many implications for him.
No need to rely, just wanted to type it out.
UPDATE -March 2011
And there doesn't seem to be any major concerns. It turns out H has the same deletion and he's ok (well I suppose that could be debatable!). H was also very small at birth, 5lb 7oz at full term, H is about 5'6 in height now. The Dr. did say people with the same deletion could be affected differently. Connor's deletion hasn't been described by any medical papers so they have no information really although she said people with bigger deletions have been described and can suffer varying learning delay and a bone density problem but that gene isn't missing in Connor's case. Connor causes us no concerns other than his speech so that's a positive.
She is going to meet with us anyway face to face and answer any questions and run through things again. We still have a endocrinology appointment at the end of this month as it has been mentioned numerous times that he could benefit from growth hormone treatment.
MIL is now wondering if her or FIL have the deletion too, but she said as they don't plan on having anymore kids they aren't going to worry about it. LOL
No need to rely, just wanted to type it out.
UPDATE -March 2011
And there doesn't seem to be any major concerns. It turns out H has the same deletion and he's ok (well I suppose that could be debatable!). H was also very small at birth, 5lb 7oz at full term, H is about 5'6 in height now. The Dr. did say people with the same deletion could be affected differently. Connor's deletion hasn't been described by any medical papers so they have no information really although she said people with bigger deletions have been described and can suffer varying learning delay and a bone density problem but that gene isn't missing in Connor's case. Connor causes us no concerns other than his speech so that's a positive.
She is going to meet with us anyway face to face and answer any questions and run through things again. We still have a endocrinology appointment at the end of this month as it has been mentioned numerous times that he could benefit from growth hormone treatment.
MIL is now wondering if her or FIL have the deletion too, but she said as they don't plan on having anymore kids they aren't going to worry about it. LOL
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