Quote:
Originally Posted by Minnie
Today, I am very happy that geneticists exist, that after nearly 10 years, we finally have a solid diagnosis after multiple incorrect diagnoses and while there is no cure, there are some supportive treatment options. Also very glad that the geneticist has access to funding to do further gene studies to determine the mutation/variant in order to name the subtype so that treatment can be more specifically tailored.
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My sister went through this with my nephew, he was finally diagnosed with a very rare disorder.