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What It's Like Living With the Unknown of an Orphan Disease

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There are rare disorders. Then there are rare disorders. There are plenty of disorders and diseases with a one in a million kind of chance to have or get. Then there’s me. According to the National Institute of Health (NIH) there are only 100 cases worldwide of what I have.

Think about that for a moment. There are over 7 billion people in this world, and only 100 have what I have. Myself, and those like me, are part of the “super rare club,” often called orphan diseases because we’re all by ourselves.

I have abetalipoproteinemia (ABL). Technically, I have abetalipoproteinemia with sub-classification of normotriglyceridemic hypobetalipoproteinemia – say that ten times! The distinction isn’t terribly important; they’re essentially the same thing. My body cannot make beta-lipoproteins to absorb dietary fats and fat soluble vitamins from the digestive system to the blood stream. Fun fact: you need dietary fats and the fat soluble vitamins (A,D,E and K) for growth, development and general body maintenance. I don’t get those and I have a lot of issues because of it — nerve damage, joint pain, muscle pain, gastrointestinal issues and so on.

Going to a doctor’s office, regular or specialist, often becomes an exercise in patience – med students get dragged in to meet me, blood work takes forever and everyone has a hundred questions about it.

But the hardest part about living with an orphan disease? Everyone around me has no idea what it means. 

When someone says they have cancer, or other well-known diseases and disorders, people kind of get the idea of what they have to go through. Maybe personally, maybe not, but generally they know what it is. I get looked at as though I had three heads if I start saying “abeta…”  My body is literally falling apart on me and no one gets it. A long day of being on my feet is exhausting and can result in crashing for two days. The joints and muscles of my back and legs hurt for days after enjoying a short hike or an 8-hour shift on my feet. My hands betray me daily – holding things can sometimes backfire and I drop them. Don’t ask me to balance on anything, unless you want to watch me fall over. I’ve mastered the fine art of tripping over air or those invisible cracks in the sidewalk. But nothing visibly is wrong with me. I don’t look sick. I don’t look broken. 

But I am. And heaven forbid I eat anything with fat in it, like ice cream or cheese. It will set me back days. The side effects of that one are easy to see – I’m running to the bathroom every hour or two. And as a result of me ever eating pizza and ice cream, I have liver damage. So now, I can’t have any fats.  Trying to explain that to people when we go out to eat is exhausting. Explaining that even a little fat is detrimental to me earns me funny looks and heavy sighs. I just want to be normal, too. 

I want to pick things up and not risk dropping them. I want to enjoy pizza and ice cream without the cramps and bathroom trips. I want to be believed when I say I am in pain and this is why. I’m exhausted when I explain what ABL is, and others respond, “that’s not real, you’re just making it up.” I really don’t want to resort to bringing a medical text book with me!

There are many issues surrounding orphan diseases – a lack of funding, a lack of public awareness, and a lack of knowledgable doctors. We don’t need others disbelieving us well. We just want to be normal. I just want to be believed when I say I hurt.

Originally published: August 22, 2016
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