Ambrose and Sophia's diagnosis is in: It is CDG Type 1d, also known as ALG3-CDG or CDGS-1d.
There are 2 mutations on the ALG3 gene; one came from me, and one from his father.
He may be case #11.
My genetic counselor gave me this diagnosis over the phone. She said she had a few case studies she
would send me. I asked how old the oldest one was. She said the one case study was about siblings, alive at the time of the report and were 7 and 9 years old. That gave me new hope. I cried tears of joy.
Then, after a quick Google search of CDG-1d, I found a post from a woman in CA from 4 days ago, saying her daughter was just diagnosed with CDG-1d. When I read her post I discovered her daughter was 22 years old and doing well! Perhaps she is not as severely affected as Ambrose, but it is wonderful and hopeful news. The average life expectancy with Taybi-Linder was under 1 year.
I will add more later. Just wanted to share this news.
There are 2 mutations on the ALG3 gene; one came from me, and one from his father.
He may be case #11.
My genetic counselor gave me this diagnosis over the phone. She said she had a few case studies she
would send me. I asked how old the oldest one was. She said the one case study was about siblings, alive at the time of the report and were 7 and 9 years old. That gave me new hope. I cried tears of joy.
Then, after a quick Google search of CDG-1d, I found a post from a woman in CA from 4 days ago, saying her daughter was just diagnosed with CDG-1d. When I read her post I discovered her daughter was 22 years old and doing well! Perhaps she is not as severely affected as Ambrose, but it is wonderful and hopeful news. The average life expectancy with Taybi-Linder was under 1 year.
I will add more later. Just wanted to share this news.
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