Story about 19q13.11 Microdeletion Syndrome , Ataxia.

B Nutt's story

Sep 9, 2017

By: B Nutt


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

Know someone who should read this story? Share it

0 comments

Login or register to leave a comment


Couple and 19q13.11 Microdeletion Syndrome

Is it easy to find a partner and/or maintain relationship when you hav...

Latest progress of 19q13.11 Microdeletion Syndrome

What are the latest advances in 19q13.11 Microdeletion Syndrome?

What is 19q13.11 Microdeletion Syndrome

What is 19q13.11 Microdeletion Syndrome

19q13.11 Microdeletion Syndrome life expectancy

What is the life expectancy of someone with 19q13.11 Microdeletion Syn...

History of 19q13.11 Microdeletion Syndrome

What is the history of 19q13.11 Microdeletion Syndrome?

Prevalence of 19q13.11 Microdeletion Syndrome

What is the prevalence of 19q13.11 Microdeletion Syndrome?

19q13.11 Microdeletion Syndrome causes

Which are the causes of 19q13.11 Microdeletion Syndrome?

Is 19q13.11 Microdeletion Syndrome hereditary?

Is 19q13.11 Microdeletion Syndrome hereditary?