While I write about rare and neglected disorders all the time, very few people in my life actually know about my own experience. I have hypermobile Ehlers-Danlos syndrome (EDS), a connective tissue disorder. It’s most well-known for causing loose joints, but can affect organ systems throughout the body. Technically, it’s classified as “rare”, but many from the community point out that EDS could be better described as “rarely diagnosed.”
There are many different types of EDS, and even people within the same sub-type present in vastly different ways.
Any time I talk about EDS, I clarify that I’m on the mild end of the spectrum. I worry that people without exposure to the disorder will look at me– a seemingly healthy twenty-something, still able to go on hikes, to travel with relative ease– and think this is the whole picture of what EDS is. I worry that people will think back to me, and assume that, because I was fine, someone else with EDS who asks for accommodation is exaggerating. Time will tell how my health will change over the years, but as of now, I’ve been lucky.
It’s not that I don’t express symptoms or deal with pain, but I know that, at least at this point in my life, I’ve had a much easier time than other people who fall under the same label. On the other hand, there are many, many people who struggle far more with my same disorder, and don’t have the comfort of label at all.
I used to feel guilty. I reached a diagnosis that is notoriously hard to secure with almost unheard of ease, and I didn’t even feel like I had “real” EDS at all. When I met other patients, to my surprise, nobody thought I was an impostor. They felt like my story was the utopian EDS dream, the ideal outcome of awareness efforts. It’s great that I knew about my condition before my symptoms progressed, because I can precautionary measures now. It’s just a shame that this is such a rare occurrence.
One thing that I want people less familiar with EDS to realize is that what allowed me to get an official diagnosis and prevented others from receiving the same recognition is fairly arbitrary. I have an immediate family member who was already diagnosed with EDS, which is one of the major factors doctors consider— because it runs in my family, I don’t need to show as many symptoms to be taken seriously. I actually have a pretty high Beighton score, but as leading specialists, like Dr. Hakim, who presented at the Ehlers-Danlos Learning Conference in 2018, will tell you, the Beighton score is a pretty incomplete way to assess joint hypermobility. For example, I can touch both my thumbs to my wrists, so that gives me one point per hand, but if my joint hypermobility was expressed more in my toes or thoracic spine instead, the movement of those joints wouldn’t be acknowledged as anything at all.
This is a common challenge throughout different disorders.
Somebody who isn’t severely affected can have an easy time fitting into imperfect diagnostic criteria, while someone who experiences a lot of problems might have a much harder time being heard. How quickly and easily you’re able to get a diagnosis isn’t a measure of how real your pain is.
The EDS community isn’t alone in the struggle for better diagnostic measures. For example, in the periodic paralysis community, some patients can find their diagnosis through a genetic test. Others will present with periodic paralysis symptoms, but will have a much more difficult time receiving a diagnosis or having their diagnosis recognized– not because they don’t have a mutation, but simply because researchers haven’t identified their specific type of mutation.
EDS specialists will tell you– new forms of the condition have been discovered in recent years, and we should expect more soon.
Sometimes people don’t seem to fit into the label they have because the subset of their condition hasn’t been defined yet, but they know they’re sick and this is the disease that makes the most sense.
Even the top doctors in a field agree that the diagnostic criteria we have has a lot of problems– it misses some people and sweeps other people into the label. We don’t know the perfect way to categorize sick people yet. Sometimes people are affected by a mutation, but because they don’t have a family member who was already diagnosed, they can’t receive the same diagnosis that somebody else with the exact same symptoms, born into another family, can. Sometimes people have joint hypermobility, but because they’re athletic, they have muscles that give them a lower Beighton score than somebody who isn’t. Some people have an easier time receiving a diagnosis because they have the financial resources to get the right doctor, or because their doctor knew what to look for. Some people were given conflicting opinions from different doctors, and float in a speculative diagnosis space for years. A lot of the factors that allows one person get a diagnosis and prevents another comes down to chance.
People who self-diagnose face a lot of criticism, and to be clear, I’m not advocating for self-diagnosis as a recommended practice. However, I know there are many people with EDS who are much sicker than myself, but for one reason or another, will not be able to be diagnosed like I was– and that puts them in a tough place.
People who live without validation are still hurting. They still need medical treatment. They still need a way to explain to their friends, family, and workplaces why things that are easy for other people are much harder for them.
I wish there was a simple answer I could encourage at the end of this, but this is hard. Relying on self-diagnosis is dangerous, but invalidating the symptoms of people who can’t secure a diagnosis is dangerous too. Researchers and organizations are working on improving this, but for now, a lot of sick people are stuck in the in-between.
While there’s not easy way to fix this, what we can do is offer understanding to people who are confused by a murky, under-researched disease that confuses the medical community at large, and recognize that their pain is every bit as real as the pain of someone who was given a label.