A very rare life-threatening disease that affects about one in every 250,000 people has struck three members of the same Skegness area family.
All three were diagnosed at the end of last summer with Ehlers Danlos Syndrome - and are now trying to raise awareness of the condition - described by one as a ‘death sentence’ with no hope of a cure.
Matt Smith, 33, his sister Carolyn, 26, and his dad John, 60, from Burgh le Marsh were all told in August that they have Vascular EDS which is the most serious type as it means organs and blood vessels can easily burst. Miraculously, Matt’s own 10-year-old son has been spared this traumatic illness of which there is no cure, no treatment, and little research done to understand it.
Matt, who has spoken out to raise awareness of his condition for Rare Disease Day on February 28, said: “I began to get visual migraine headaches a couple of years ago. I’d had them in my teens and then grew out of them but they came back with a vengeance once a month, then every week, and then one night I had a bit of a funny turn with dizziness. I went to the doctor, he sent me for scans, and I was told I was extremely lucky because an artery in my brain had burst. This is usually responsible for causing strokes.”
Medics were unsure of what has caused the problem but Matt looked up his symptoms and found he ticked every box for Vascular EDS, a little-known illness. It was at a specialist centre in Sheffield where he and his family were diagnosed.
“My sister bruises very easily and has stomach problems, like I do, but my dad has suffered for the last 30 years without knowing why. He has had all sorts of problems and was diagnosed with heart disease but the EDS specialists told him that this was all part of having this condition,” Matt said.
“However, he has reached the age of 60 and that gives us hope, although it hasn’t been an easy 60 years. He’s had a lot of problems. Vascular EDS is a death sentence. There is no cure and patients generally don’t live longer than the age of 48. We think both his mother and grandmother suffered with it. His mum died in her 40s of a aneurism and his grandmother died in her 30s.”
He added: “It’s very difficult living with the knowledge that I might not have much time left but to give my life meaning, I’ve dedicated the rest of my life to raising awareness of this rare disease and that there must be more funding made available for research.”
EDS is an inherited genetic condition that affects the collagen in the human body. Vascular is one of seven types of EDS.
The UK has a Rare Disease Stratgey and plans to promote the UK as a world leader in research and development to improve the understanding and treatment of rare diseases. It has 51 recommendations which can be found here: www.gov.uk/government/publications/rare-diseases-strategy
For more on Ehlers Danlos Syndrome see www.nhs.uk/conditions/ehlers- danlos-syndrome/Pages/ Introduction.aspx