Today is European Fragile X Syndrome awareness day. #FragileX is a chromosomal abnormality and is the most common form of inherited learning disability. It's called Fragile X as the end of the chromosome looks like it's about to drop off.
I am a carrier of #FragileX and E & T (our children) have the syndrome. As it is a problem with the X chromosome, boys are more affected than girls as they have no "good" X chromosome to balance out the dodgy one.
#FragileX has been described as autism with bells on and can come with:
epilepsy
autism
global developmental delay
social anxiety
echolalia
hypermobility
hypotonia (low muscle tone)
ADHD
sensory issues
flat feet together with a forward leaning gait.
Carriers tend to have strong autistic traits (I also have OCD) and are significantly more likely to have chronic anxiety and depression than neurotypical peers. They might also develop #FragileX Tremor Associated Ataxia, premature ovarian failure and brain atrophy. Yay!
T has severe learning disabilities, epilepsy, ADHD, hypermobility & hypotonia. He also has a cracking sense of humour & is a happy boy who, although he struggles to say whole sentences in English, can sing whole songs in English and French. #FragileX
E has hypermobility and autism with moderate learning disabilities. She is hugely creative (see below), has the most wonderful sense of comic timing and last year won Student of the Year at college. #FragileX
You can read more about #FragileX on the @fragilexuk website. Thank you.
You can follow @AlexaDWilson.
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