Yeah, my mum has a more mild varient she has Type 2 EDS, which is much more manageable, but my sister and I have a much more severe cases. My sister is 17 and she has Type 3 EDS which cause much more severe joint degredation than the previous types. I however have a rather unique phenotypical case as I show symptoms of both Type 3 and Type 4 EDS which is the vascular type. Genetically I have Type 4, but how the symptoms present themselves is different in each person.Inazuma wrote:Does anyone else in your family have it?
Ehlers-Danlos Syndrome is a very unpredictable condition as the genes that cause it are prone to mutation which causes contant variations even amongst family. I was the first in my family to be diagnosed as I have the most severe case so far. It tends to become an issue in the teens and early 20's and there are children in the family who are showing early signs. So far however I'm the only recorded case of Type 4 in our family.
Type 5, 6 and 7 EDS are exceedingly rare, and less than 100 cases have ever been discovered. They tend not to survive their first few weeks. Type 1 and 2 are different genetically but are practically identical and mild enough that people can live without ever getting diagnosed. Type 3 effects bones and joins more severely, most people with type 3 will end up in a wheelchair by the time they're middle aged. Type 4 more severely effects blood vessels and internal organs. I've already had tearing in my kidneys and liver, and needed surgery on my chest. Type 4 is usually fatal in your 40s as the organs simply destroy themselves slowly. Type 4 sufferers also have bone and joint issues, but usually less severe than Type 3... I wasn't so lucky and have the fully Type 3 joint problems as well, so expect to be in a wheelchair before the end of the decade.
All in all the condition is still an unknown. Most doctors have never heard of it. I have to tell doctors/nurses/paramedics how to treat me because I know more about the condition than them. It's still being studied and is often mis-diagnosed as a patient having multiple other conditions such as Osteoporosis, Thyroid Aethema and occationally doctors will simply accuse the patients of being a hypocondriac (that's happened to me). Even now they're still doing research on the condition to find ways to lessen it's effects but this is always going to be an incurable condition, it's instead a matter of finding ways to cope with the condition rather than ways to cure it.
