(For clarification of the terms EDS vs HSD, click here)
You may have noticed that May is the time for many chronic illnesses to raise awareness, funds for research, and support for the patients and families affected. Throughout the month, we’ll be sharing stories from the Lyme, Lupus, ALS, mental health and CF communities in acknowledgment of these awareness months.
One disease that has been fighting for an official awareness month is Ehlers-Danlos Syndrome. EDS is a collection of inherited connective tissue disorders. It is caused by mutations in the genes responsible for collagen. Since collagen can be found in virtually every organ in our bodies, the symptoms of EDS can be widespread — joint subluxations, fragile skin, GI dysmotility, blood pressure fluctuation, pelvic prolapse, and much more. Genes have been identified for 12 of the 13 known types of EDS. Unfortunately, hypermobile-type (hEDS), the one yet unidentified, is by far the most common. Some researchers estimate as high as 3% of the population may have hEDS/HSD, but it is so underdiagnosed that it’s impossible to know for sure.
Fight for Recognition
You would think that a disease affecting so many individuals with so many symptoms would have gained widespread recognition. Unfortunately, EDS has a history of being overlooked. When I asked why it was so under-researched, the nurse practitioner who diagnosed me voiced an unnerving theory: 85% of diagnosed EDS patients are women. The symptoms include fatigue, weakness, pain, brain fog, and often fainting. Her concern was that EDS had fallen into the category of diseases described as female hysteria and, later, conversion disorder. EDS recognition has only recently picked up momentum as specialists (including multiple women) found evidence that this is a very real, physiological, genetic condition.
Insidious though it is, sexism in medicine is not entirely to blame. Many of the symptoms also mimic other conditions, such as fibromyalgia, chronic Lyme, and ME/CFS (which of course adds to the lack of recognition and legitimacy in some medical circles). It is still unclear whether these conditions are variations of the same thing or entirely separate origins with similar presentations. I imagine we won’t have a better idea until someone studies all of them together.
It’s Complicated
The symptoms being so widespread also makes doctors skeptical that a disease could be causing it all. I’ve heard from doctors who learned in medical school that so many unrelated symptoms should be assumed to be a mental health problem until proven otherwise. Most EDS/HSD patients are told for years, even decades, that their symptoms are “just anxiety” or “all in your head.”
Add to this the high rates of comorbidity within the HSD/EDS community — many of us have combinations of other illnesses such as Postural Orthostatic Tacchycardia Syndrome (POTS), Mast Cell Activation Syndrome (MCAS), autoimmune disorders, hormonal disorders, etc. It can be difficult to determine, at times, what is caused by connective tissues versus the other comorbidities. Patients may be diagnosed with the more well-known POTS or the very newly discovered MCAS without realizing they also have HSD.
My Story
As a child, I had a million symptoms that no one could explain. Even my mother, a family practice doctor, had no idea what to make of me. She tried time and again to find something abnormal in my labs or an identifying symptom that a specialist could make sense of. She felt that her training as a doctor had failed her if she couldn’t even diagnose her own daughter. She kept saying that whatever I had, she was sure it was genetic, that much of our family had aspects of it too, and that hopefully it would be discovered one day.
And it was. When I finished graduate school and was struggling to work full time without crashing, my mom stumbled upon some new research about EDS and POTS. It was slow going, but we had found the road towards some answers. As I fought to get a handle on my health, I was starving for a community of other zebras. I found them, and the more we shared stories, the more I knew that something needed to be done.
The average EDS/HSD patient seeks help for 12 years before being diagnosed. Many of those years are filled with skepticism, shame, and medical PTSD. The diagnosis of “just anxiety” leads to more anxiety and the inability to trust your own experience. The more patients I met, the more similarities came to the surface — being told it was just growing pains and we had a low pain threshold. Being told we just needed to exercise more…
Advocating
I’ve started to reach out to doctors and found these trends still continuing. I tried mentoring students through getting their own answers, only to be told that EDS is a very rare disease, so it’s unlikely they have it (if the provider had heard of EDS at all). When sharing the 2017 research and other literature did not always gain traction, I decided to start giving talks for medical professionals. Forty-five minute presentations are not quite enough time to undo the misinformation about EDS/HSD in our medical communities, but it’s a start.
So, that leads us to May 2019, awareness month for many chronic illnesses. The Ehlers-Danlos Society has declared May its awareness month as well, and is pushing for official recognition in all 50 states, as well as countries around the world. Awareness is critical for doctors to understand the prevalence and diagnostics. It is monumental for the researchers struggling to get recognition and funding. And it can be the life-altering moment for those patients being told they’re fine, struggling through daily life, who just need to google EDS to know that it is the answer.
Want to learn more? For more of my story with EDS (+ comorbidities), visit my personal blog. For more about EDS/HSD, check out the Ehlers-Danlos Society.
Want to get involved? Join the social media campaign or petition your state to get an official proclamation.
