Ok so after 4 years we finally have genetics results (from DDD study) DS has a rare unnamed mutation and is only the 3rd diagnosed case in the world.
Not really sure how I feel about the news tbh as I guess as a parent awaiting results you expect 'answers' but with only 2 cases to compare DS too its not really closed any questions as there is very limited information.
But I am grateful that we do have a sort of answer after all the tests and scans my Ds had to endure, if that makes sense
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imawigglyworm · 11/09/2013 21:42
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