Hi, I’m Helen and I live in North Nottinghamshire with my two children, Chloe, 23 and my Swan Steven, 20. I also visit the Oxfordshire and Berkshire areas often as I have family living there. I’m the SWAN UK Parent Rep for these areas Steven suffers from medical and learning difficulties. After 19 years he was diagnosed with hypermobile Ehlers-Danlos syndrome. Steven loves dancing and as a member of his local dance school, along with Chloe, was dancing in competitions until January 2019. Although Steven now has a diagnosis of hypermobile Ehlers-Danlos syndrome he has no diagnosis for his learning disabilities. He has a reading age of 10 and has a one to one at his specialist college at all times to help explain things. Last year he couldn’t talk at all due to a partly functional neurological disorder. He has a diagnosis of verbal dyspraxia and struggles with words and sounds. His college describes him as a loveable rogue and he gets by with his sense of humour! Steven is at a specialist college studying trade. He’s started sewing at the local day centre and he enjoys playing xbox, using his phone and loves his match attax football cards.
The impact of having an undiagnosed condition
He’s been using a wheelchair for 4 years now and for the last 18 months he’s had to use it full time and stop dancing completely in 2022. As Steven’s hypermobility has become worse, genetics want to see if there is any genetic dystonia so his panel is now being redone as part of the 100,000 Genomes Project.
Steven has a morning carer, pain medication every two hours, physio and hydrotherapy to help him with his walking and make him stronger.
SWAN UK has been amazing since Steven got diagnosed. I’ve had some tough times with Steven and the support from people in the SWAN UK community has been there when I’ve needed it.
Being a Parent Rep
I became a Parent Rep around nine years ago. I wanted to get the word out about SWAN UK and help people find support earlier as Steven was 9 when I found SWAN UK. I found a facebook post which made me realise he was undiagnosed as he had lots of different conditions and symptoms but no overall diagnosis. As a rep I’ve done lots of information stands and met lots of people who think their children are diagnosed because they have some diagnoses but they don’t know overall what’s wrong. I’ve seen the lightbulb click as they realise their child is undiagnosed.
I’ve helped with information events for SWAN UK and gained confidence in representing SWAN UK at information events. At my first one I couldn’t talk to anyone and now I feel like I’m someone different when I do them!
Reaching more families
I want to be able to talk to MPs more and raise awareness about SWAN UK and being undiagnosed. I’ve been through the transition from child to adult service with Steven and because he doesn’t have an overall diagnosis we were struggling to get support. Trying to get consultants to listen now you have a 20-year-old doesn’t really happen as much. I found them much more understanding when Steven was in paediatrics rather than adult services. As soon as Steven got his diagnosis of hypermobile Ehlers-Danlos we were put on list for adaptable housing! I want to be able to talk more to people so others don’t have to deal with what I did.
Before I found SWAN UK I felt alone in this journey, so did Chloe and Steven. Finding SWAN UK has helped us as a family to see that we’re not travelling this road alone. I want to raise the profile of SWAN UK locally so we can reach more families so they don’t feel so alone.
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'Finding SWAN UK has helped us as a family to see that we’re not travelling this road alone.'
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