Rare Disease Day: our question marks

The Lengthy Shadow of Rare Disease:

Our lives grow beneath the shadows of question marks. For many, those questions are little more than unobstructed shade; for others, they’re a foreboding storm. I am one of the others’.

As we get older, and we pass from one life-stage to the next, those questions change: am I a good student? Am I attractive? Will I be a good parent? A little over two years ago I was diagnosed with Ehlers-Danlos syndrome (EDS). A rare genetic disease, EDS can range from debilitating to mildly limiting. So when I was diagnosed, that was the big question: what form do I have.

At first my disease was only moderately limiting: I was still capable of the adventurous exploration characteristic of my age-group, just not the manual labor, the weight lifting or sports. So I took to school, enrolling in a bachelor of Sciences degree program heading towards medical school. For a while things seemed to be going fine: my symptoms appeared to have plateaued, the medication was working. My life was on track; identity secured.

Like almost all of my friends who share this disorder finding a doctor knowledgeable enough to diagnose me took a very long time. The rare disease identity is only publicly displayed after a diagnosis has been made. Although that diagnosis equipped me with the information required to answer entreating questions from friends, family members and often other health-care professionals, the characteristics of ‘someone with a rare disease’ have been fruiting through the cracks my entire life.

That brings me to the next big question mark: what is it like? As anyone with a complex medical condition will tell you, physical symptoms are only a part of the experience. After about a month into my first semester in the pre-med program the physical symptoms worsened. A forty hour work week can become a burden for even the most fit, and when you’re a 21-year-old male you always think you’re the ‘most fit’ – no matter what the doctors tell you, or how many new ways you manage to piece yourself back together. The grueling three-hour biology labs spent hunched over microscopes were a little too much for my neck; so I backpedaled. I switched from chemistry to psychology, and dropped out of physics so that I could limit myself to one lab per week. But things quickly got away from me.

What was mild neck pain turned into debilitating neck pain, and then shoulder pain, and back pain. And as I was sizing up the proverbial wall, another question mark appeared: am I worth all this trouble.

The pain has steadily worsened, and so have the complications. The two years since my diagnosis have marked a period of staggering change in my life. I went from the keen, hyperactive pre-med student to a person obsessed with self-worth in a disorienting short matter of time. I lost my friends, I lost my dream, and I lost the freedom to pursue my goals with any semblance of speed. My days are spent on my couch with my rescue-dog, Charlie, reading through articles and research papers on-line. Mourning the life I should be living while at the same time trying to cultivate the one I perhaps can.

Ehlers-Danlos syndrome is weird. There are some who aren’t forced by their symptoms to find a diagnosis until they’re in their thirties – and some even later. There are some who die of vascular complications when they’re in the second decade of their life, and there are some who are confirmed as infants. Aside from the rarer cases where a diagnosis is made in the first few years of life, most of us have a period of comfortable unknown; we don’t feel sick, and thus we aren’t ‘sick’.

When someone asks me what it’s like living with my disease I ask them what it’s like living with theirs. They blink, stare, raise an eyebrow and ask me if I’m feeling alright. So I ask them again. “But I don’t have any disease”. After a few more seconds of awkward tension I say: “when you have a rare disease, too few people know what you’re going through that it’s as if nothing is the matter. For me, since I look normal enough, that effect is intensified. I watch as my body falls a part, and no matter how hard I try, because so few people are aware of my disease, the treatments that could help me, aren’t available. You could see me on my worst day and conclude that everything is fine. It’s as if nothing is happening; It’s as if I don’t have any disease.”

If you live in constant pain there are few things worse for you than being disregarded. Luckily for most that isolation is remedied by a loving family and a tight support group. But even the most loved still feel as if they’re somehow inferior. Growing up we hear words like ‘burden’ and ‘useless’ thrown around – we jokingly say them to siblings and friends in moments of comical weakness, but never really mean them literally. Having a rare disease does make you feel useless, and oftentimes like you’re a burden.. If you don’t have the love of a family or a tight support group, those feelings take root and before long your life is a cloudy haze of doubt and depression.

That’s the question I struggle with most: what does it mean to have value. Clearly value isn’t determined by a job, or a skill-set, or by love. But if not those things, than what? When you have a rare disease your life is spent balancing on the top of a wall. You’re bound to fall over, and when you do, you pick yourself up, piece yourself back together and again and again climb back up. But each time you re-build yourself, something is lost. And over time, the royal family thins; until it’s just you and your question marks. And in those moments of utter confusion and weakness, the only thing that keeps you together is the idea that you still have value; that you’re still important, and that you can still help.

To me, the fight of a rare disease is the fight to find value. Those battles will take different shapes for each person. It’s not about finding some unique position in the world for my disease, it’s about finding a position in the world for anyone with any disease.

EDS has taught me many things. I’ve learned humility, the value of humor and hard-work, of friendship and of love (even in their absence). Most importantly, though, I’ve learned that if we consider even one person useless, or a burden, then the questions haven’t been answered and the problems are still unsolved.

We learn by solving problems, and it’s the hardest problems which achieve the most. No matter how old you are, what job you have or what your gender is, we will all ask the big question: what does it mean to be a person. There is a world filled with people who have rare diseases, who live rare lives and who are given a rare glimpse into the fabric of life. Instead of treating us like we have no disease, be brave enough to ask the big question. I guarantee by comparison you will find the obstacles facing you much less impressive.

There is nothing that makes me feel less afraid, more safe, and more valuable than living my life for my younger brother. I don’t have a supportive family, the love of friends or any real substantial help. I am very sick, very disabled, and things are only getting worse. I live in a world that confusingly tells me of the joys of life against the backdrop of calamitous lives not worth living. And the big question mark looming hungrily above is: are you even worth all this trouble? If the only answer to that raw, fundamentally human pain is to help another person, then why is the inverse not just as true?

People need to be shown they’re capable of having value before they can ever show you they have value. And that’s just a fancy way of saying that everyone has value. If ever a tautology needed tolerated… So let us show you ourselves, and just maybe we’ll learn something together in the shade.

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