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Personal Stories

Maguire

7/16/2001

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Northern Ireland
Daniel was born on 22/1/99, a very much wanted third child. I hadn't bothered with any screening tests this time but we were getting him tested at birth for another inherited condition (Charcot-Marie Tooth disease).
For the first year Danny did well, a very happy easy baby although he did have problems with swallowing and snored very loudly!! He was late like our others in crawling and walking but we thought this might be due to CMT which we still don't know if he has or not...the hospital has lost his tests twice. Anyway, one weekend, when he was 16 months old,friends, who are special needs teachers, stayed and after their visit they phoned and suggested we should get him tested for Down's. We are infinitely grateful for that call. 

After a pediatrician appointment ,she though he had hypotonia not Down's.  She did a blood test and we got the results several months later. Dan has mds with 17% affected cells.  He only has very mild signs which we notice when he is weary. Now at 2.5 he is a lively child who goes to nursery and loves playing with his brother and sister. He gets some speech therapy and is having an operation for glue ear soon.

At the moment his biggest delay is speech, only really saying two words at a time. We are hoping he will go to our little village school and hopefully do as well as possible. Finding out about Danny was a big shock, which we are still getting used to, but we will do our best to support him in the future. It really helped us to find this website and read other people's stories.
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