Back in November I had a hospital appointment where it was confirmed the John Radcliffe had tested my genes and twice they had confirmed mutations to the SAMD9L gene.
These results basically confirm what we thought which is that I do have Ataxia-Pancytopaenia syndrome.
The problem is that it’s so rare the doctors can’t predict how it will progress so it’s a day by day, week by week discovery of wait and see. So far all reported cases have been in families confirming the autosomnal dominant inheritance pattern, I however like to be unique and my mutation is a de-novo mutation so neither of my parents have the mutation.
My genes have also gone to Bristol to be tested hence the 99.9% sureness, it won’t be 100% until they come back with the same answer.
So we shall wait and see what happens and hope the Bristol results are back before I see the ataxia specialist in May.
How Rare? 