In general, having a genetic disorder known to cause severe pain, neurological complications, digestive complications, and possibly its own subtype of autism is mostly a pain in the ass. After explaining Ehlers-Danlos syndrome to a good friend of mine, she remarked that it sounded extremely inconvenient. Far from the dire feelings I had about my diagnosis when it was initially given to me in January 2020, that’s mostly how I feel nowadays about my condition: it is highly inconvenient. Taking a lot of sick time due to migraines and flare-ups is boring and a waste of time. I’m a woman on the go; I don’t like to be laid up in bed all the time. Also, many businesses conduct temperature checks anymore due to the COVID-19 pandemic, and my inability to properly regulate my own body temperature means I frequently register a temperature. Like I said, this is mostly a pain in the ass.
Being a genetic disorder, there is also the touchy familial component to being an EDS patient. It is unknown as of this writing, but likely, that my daughter may have inherited my EDS, and I carry a lot of guilt knowing that I could have “passed on” this condition to her. Sometimes I worry that I will outlive my mother, who does not have EDS. There is also a degree of shock that a family may experience when a relative receives a diagnosis and everyone suddenly realizes that the physical “quirks” everyone has are actually indicative of a serious illness. Then again, others may experience joy at knowing that their ailments were not “all in their head”, and that there is a genetic basis for their condition.
A quick note on the subtypes of EDS. EDS has over a dozen known subtypes, which all have their own associated genetic mutations and phenotypic presentation. The most common of these subtypes, and the one I was lucky enough to inherit, is hypermobile EDS, or hEDS for short. Each of the known subtypes has at least one known genetic mutation associated with the disorder–except for, until recently, hEDS. (Again: a pain in the ass!)
The phrase to note: until recently. Yes, recently, researchers have announced that they have identified a genetic mutation associated with hEDS!
At the Medical University of South Carolina, the Norris Lab is a research lab focused on understanding the biology of connective tissue disorders, run by Dr. Russell “Chip” Norris. Dr. Norris’ work in this century has focused on understanding the genetics behind cardiovascular diseases including mitral valve prolapse, which is a known complication of EDS including hEDS and one that someone in my family has experienced as well. At the Norris Lab, a research team comprised largely of hEDS patients (and one Miss America) announced two weeks ago that they had identified the first known genetic mutation associated with this subtype.
In this interview, well-known patient advocate Izzy Kornblau interviews leading Norris Lab researcher and PhD candidate Cortney Gensemer on the candidate gene. This is really a terrific resource for anyone looking to understand the human significance of this mutation, e.g. if not having the mutation will mean losing your diagnosis (spoiler alert: IT SHOULDN’T) and what knowing you have the mutation could mean for your treatment plan. There is also a lot of really cool stuff about the science itself that is just fascinating to me. Although they cannot say until publication what mutation this is–which is understandable–Gensemer did note that this is not a collagen mutation. This is completely fascinating! Also, they apparently gave a bunch of mice hEDS to study the phenotype, which is a conversation I’m not sure how to have with my anti-animal-testing but possibly-hEDS-having daughter.
One thing left out of the conversation, however, is how you can help. There are two ways we can help further the research they’re doing at the Norris Lab:
For one, we can donate to the Norris Lab via the MUSC donation webpage. Be sure to indicate on the form that you are choosing your area to support, then write down “Norris Lab EDS research” or something to that effect.
We can also email EDSregistry@musc.edu and inquire how we can serve the research, including by asking to join the hEDS registry. The Norris Lab currently has the largest registry of hEDS patients in the world, and having large quantities of research participants does make conducting research much easier.
Like I’ve said, having hEDS is mostly inconvenient and a pain in the ass. However, as a researcher myself–albeit one of the social sciences, not medicine or biology–whenever breakthroughs in research for this condition are made, it is incredibly cool to witness. We are watching the science of hEDS unfold in real time, led by a team of researchers who not only understand the etiology of this condition but also the human aspect of it: the pain, the complications, the problems it causes. As many EDS patients can be alienated by the medical system, to know that these researchers are intimately familiar with this condition may offer some solace or comfort.