19q13.11 Microdeletion Syndrome
B Nutt's story
I am a British boy who has been diagnosed with Episodic Ataxia Type 2
I have lots of issues including vacant episode epilepsy, vertical nystagmus, learning difficties, poor fine / gross motor skills, coupled with significant development delays in all other areas and traits of ASD.
I was originally diagnosed with proxsymol tonic up gaze but this has got better as I has got older.
The condition is genetic as I have an older half brother who has been diagnosed with EA2 as well, he also has some other traits as me
My mum & dad are my support
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