I'm Sophie, married to Simon and mum to Jeremiah (10), Isaac (8), Malachi (5), Ezekiel (3) and Zechariah (2). Also our 2 little ones in heaven, Eleanor (2005) and Elisha (2011).
Jeremiah has Autism.
Isaac has hypermobility syndrome/Ehlers Danlos type 3 and uses a wheelchair for anything other than very short distances.
Malachi has hypermobility and wears piedro boots to support his ankles
Ezekiel has a cleft palate, hydrocephalus, hypotonia and development delay
Zechariah was born with sepsis and has mild development delay.
Friday, 27 July 2012
Elhers Danlos Syndrome
Since I posted Maddison's letter on my blog I have thought about the things she wrote about the lack of awareness of Ehlers Danlos Syndrome. I know I had never heard of it until Isaac was diagnosed with hypermobility and I did some googling. If you look hard enough there is a lot of information and online support groups out there but you do have to look for it.
Somewhere between 1 in 5000 and 1 in 10,000 people have Ehlers Danlos Syndrome. This makes it rarer than Downs Syndrome (1 in 800), Autism (1 in 100) and Cerebral Palsy (1 in 278). It is only slightly rarer than Spina Bifida (7 in 10,000) which I was quite surprised at as I think Spina Bifida is a lot more well known than Ehlers Danlos Syndrome.
When people ask me what's "wrong" with Isaac (and we get this more often now he has his wheelchair) and I explain about Ehlers Danlos Syndrome I normally get the "I've never heard of that before" response. If I say that the main symptom is hypermobility a lot more people know what that is also most people's experience of this is being able to bend their little fingers and thumbs backwards. It's not much but it's a start.