New Year, New Diagnosis

As those who have been following my journey are aware, I began to struggle pretty significantly with my health last summer, after years of things not feeling quite right with my body. In late July, the worst joint pain of my life led me to seek the assistance of a rheumatologist, who diagnosed me with fibromyalgia, a condition characterized by unexplained widespread chronic pain and fatigue. I was so desperate for answers–and validation–that having a diagnosis, any diagnosis, was a huge relief; it seemed like a step in the right direction, and I felt optimistic that I could manage my condition through mindfulness, medication, and moderated movement.

In the month or so that followed the appointment, things seemed to slowly but steadily improve: my brain fog subsided, and I was able to write again; I returned to daily activity in the forms of walking and yoga; and my anxiety was better as a result of being on Cymbalta. I finished my book and sent it to my agent; my parents and I spent more time at our house in Vermont, and I began to tentatively plan to move up there in the new year and live on my own for a little while.

As autumn progressed, however, my health again took a turn for the worse, and new issues began to arise. I had lost fifteen pounds since the spring due to not having an appetite, and weight restoration was made all the more challenging with the onset of nausea, reflux, bloating, and dysphagia (trouble swallowing). Although these symptoms crept in gradually, they seemed to dramatically worsen in October, for reasons I’m unaware of. Eating became painful and chore-like, and the list of foods that I could tolerate dwindled significantly; I had to drink many of my calories and eat several times a day simply to maintain my weight. It was eerily reminiscent of my early days in eating disorder treatment, though the cause of my discomfort and aversion to food was physical this time rather than mental.

I also began to experience increased lightheadedness, dizziness, and tachycardia, especially when changing positions (i.e. going from sitting to standing). Showering as well as a trigger, and on a handful of occasions I felt as if I were going to pass out getting out of the shower. In the fall, I saw a cardiologist for a recurrent heart murmur; although POTS (Postural orthostatic tachycardia syndrome) wasn’t mentioned during that appointment, and wouldn’t be for another couple of months, he was the first person to raise the possibility of Ehlers-Danlos Syndrome.

EDS are a group of rare genetic disorders that affect the body’s connective tissue. There are thirteen types, and the most common is the hypermobile type, which is characterized by hypermobility, joint pain and instability, and mildly stretchy skin. Because connective tissue is everywhere in the body, EDS can also cause GI issues and dysautonomia, among other complications. I had heard about EDS prior to seeing the cardiologist but hadn’t considered that it might explain my ongoing issues. The more I read about it, however, the more it fit, in a way that fibromyalgia never really had.

I’m very hypermobile, and in my adolescence regularly impressed my peers with my flexibility; I have soft skin that bruises easily; since my preteens, I’ve struggled with chronic foot pain, particularly with sports, and coat-hanger headaches (pain in my neck and shoulders); I have unexplained stretch marks on my inner thighs that developed during puberty, and scars that didn’t heal normally. In recent years, my joints, particularly my hips, knees, ankles, and wrists, have become increasingly instable, resulting in pain and injury; they also click and pop a lot and sometimes slip in and out of place.

As EDS is a genetic condition, it’s most commonly diagnosed by a geneticist. In trying to set up an appointment with genetics, I was told that EDS wasn’t curable and that a diagnosis wouldn’t make that much of a difference–except that to me, it absolutely would. Irrespective of curability, I wanted the correct diagnosis, the label that would accurately describe what I was up against and provide me with a framework for how I could best manage it. For instance, yoga may be a perfectly fine form of exercise for someone with fibromyalgia, but with hypermobility one of the last things you want to do is further stretch out your joints, something I discovered the hard way when I injured my ribs. Having the hEDS diagnosis has also provided insight into, and a possible explanation for, my GI issues and autonomic dysfunction; it has made it so that my medical team has the clearest picture of what is going on with me, and I access to the best–and correct–care.

Since there is no genetic test for the hypermobile type of EDS (hEDS), I was diagnosed based on my ability to meet several criteria: firstly, the Beighton Score, which assesses hypermobility, and then a checklist of common hEDS characteristics, including unusually soft skin, mild skin hyperextensibility, and abnormal scarring, as well as other curious features such as arachnodactyly (long, slender fingers) and small white bumps on my heels called piezogenic papules. I was also asked about musculoskeletal pain and joint instability, and if I had a family history of hEDS (to the best of my knowledge, I do not).

Receiving this diagnosis was on the one hand a relief, and on the other a tough pill to swallow. Although I’m glad I know what’s wrong with me, having something wrong with you, period, is never easy or expected; chronic illness, to say the least, has thrown a major wrench into my life and limited what I’m able to do. That I can still write–and well, according to those who have read my recent works–is something I certainly don’t take for granted, same with being able to take walks (on most days), swim, and cook and care for myself.

That said, I miss my old body and all the things I was able to do in the past that I’m not able to anymore–or at least not at the moment. I hate being in pain all the time, and that my diet currently resembles that of a picky six-year-old’s. Being sick makes it difficult to fully appreciate all the good, exciting things that are happening in my life–my book being out on submissions; moving to Vermont–and it’s frustrating to have conditions that doctors still don’t understand that much about and don’t have many answers for. It puts a lot of pressure on me to manage what, at times, feels unmanageable, and I’m continually grateful for the support I receive from my parents as well as from an online community of chronic illness sufferers. This is one of the hardest things I’ve ever had to go through, and I’m glad that I don’t have to endure it alone.