Diagnosed with POI at 36. Could it be linked to my son’s severe autism and intellectual disability? (Fragile X?)
Hi everyone,
I am 36 years old and was recently diagnosed with POI (Primary Ovarian Insufficiency). I have three children. I originally agreed to genetic testing to see if my 18-year-old daughter might inherit this, so she could consider freezing her eggs.
However, after a stressful call with my doctor, I started researching and am now completely overwhelmed.
My youngest son (11) has an intellectual disability and Level 3 Autism. He does not have the typical facial features often described online for Fragile X. My middle son (16) also has autistic traits and a split profile (high verbal, lower performance). I myself have ADHD and anxiety. [1]
I just found out that being a Fragile X premutation carrier can cause POI in mothers and can expand into the full Fragile X mutation in sons, causing intellectual disabilities and autism. [1, 2, 3, 4]
How likely is it that my POI and my son’s disability are just a coincidence?
Has anyone else gone through this exact realization after a POI diagnosis?
Is it common for children with Fragile X not to have the typical facial features at a young age?
I’m currently in a lot of emotional distress and honestly terrified of what the genetic test might reveal. I would love to hear your experiences or insights. Thank you.