A little bit about me

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My name is Naomi, I am 20 years old and I have coffin-siris syndrome. My affected gene is smarca4 but there are 10 known genes that can be affected to cause css. I am part of a Facebook group with over 1000 members so please come find us for help and support.
A little bit about me. I have complex learning disabilities, my speech is impaired, and I struggle with day to day activities. I have complex motor movement disorder with dystonia, tics and ataxia.
I work really hard to try to stay mobile but I get so tired and the dystonia in my feet makes it hard for me to walk so often I have to use a wheelchair.
I am a happy person and enjoy a good giggle but my autism makes it hard for me to process loud noise and I’m not keen on touch either.
I hope to find more people with css in the U.K. so please come find us on Facebook we are an immediate family only closed group so we provide a private place to discuss all positives and negatives associated with having a disability.
We even have our own genetic specialist!
Signed by
mum of Naomi x