As an autism researcher interested in rare genetic syndromes, I have always found my grandmother fascinating. She had subtle but distinctive facial features, as well as epilepsy and learning difficulties. But I have never been able to work out what syndrome, if any, she might have had.
I wrote about her unusual traits on my blog in 2014 — and a reader responded, suggesting that my grandmother might have had Ehlers-Danlos syndrome. I didn’t think much of the suggestion at the time because I had done a lot of digging and this condition had never come up.
But as I continued to communicate with the reader, I realized that many of the features she mentioned in fact described me: I have chronic pain and am double-jointed in most of the major joints of my body, for example.
The conversation spurred me to see my doctor, who referred me for an assessment at Greenwood Genetic Center in Greenville, South Carolina, where I live.
Ehlers-Danlos syndrome and related conditions are thought to stem from problems with the formation and repair of collagen, the glue that holds the body together.
Because of this, people with these conditions are often hypermobile (double-jointed), have stretchy, delicate skin, immune disorders and sometimes heart problems. They often experience severe chronic pain related to joint dislocations, partial dislocations and excessive inflammation. Some require numerous surgeries and may have to use mobility devices by their teenage years.
Official estimates suggest that 1 in 2,500 to 5,000 people have the condition, but most clinicians agree these estimates are outdated. And the symptoms are nebulous enough that the frequency may be significantly higher.
Although I’m still awaiting genetic testing to rule out other hereditary connective-tissue disorders, my physical exam suggests I have a condition closely related to Ehlers-Danlos called generalized hypermobility spectrum disorder. After my diagnosis, I joined online communities for people with these conditions and began to learn more.