Rare Disease Day


According to Rare Disease Day Organization:

“A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.

A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.”

There are over 7000 rare diseases, which make rare disease not that uncommon. Many of my friends have rare diseases: Ehlers Danlos Syndrome, Hashimotos, Friedreich’s ataxia, Pediatric Crohn’s Disease, and many many more.

Two of my friends have offered words on their rare diseases.

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Ashley Coyle 

“Having Hashitmoto’s and Living with It”

“I’ll be honest, I didn’t think my Hashimoto’s Thyroiditis counted as a rare disease until it was pointed out to me that it was. I don’t think very much of my Hashimoto’s since so many of my friends have all of these health conditions that, in my mind, are much worse than mine. Friends who have had to have surgery, take more medicine than me, etc. I’ve had to learn to stop comparing myself to them.

You see, my condition means I have to take a hormone replacement pill for the rest of my life. It also means I’m going to have to constantly get bloodwork done. I don’t sleep well, am fatigued a lot, am very sensitive to cold and have a compromised immune system. In addition to the Hashimoto’s, I have generalized anxiety. I have severe panic attacks. Having to call the doctor to make my own appointments might be one of the worst things about being an adult.

I’ve faced a lot of people telling me I can’t be that sick since they can’t see my illness. It doesn’t mean it isn’t there. I struggle with it every day. Missing work because my immune system is compromised and I get sick a lot. I’ve missed so much work that I can’t call in absent without the risk if getting fired at this.

And school? I missed so much school there were talks of holding me back. I wasn’t diagnosed until I got out of high school, but I was feeling the effects. The constant fatigue, getting sick, having severe anxiety attacks. I had to get sent home one day because I was having such a bad panic attack.

There are times where I don’t get to do a lot of the fun things I want to because of my illness. Missing Amtgard because it’s too cold, missing playing D&D with friends because I’m so tired after work I simply cannot keep my eyes open. And people judging me because I’m missing things. It’s not that I don’t want to do them, it’s that I feel like I can’t. Not to mention the times where the idea of having to go be social makes me anxious. I simply don’t want to be around people and have to make up excuses because “I’m not feeling very social today” is not a good enough reason to bail out, even though it should be valid.

Because of my anxiety I am 23 years old and still don’t have my license. I have too many panic attacks in cars from car accidents. This means I have rely on either friends or cabs to get to and from work.

I feel like a burden. I feel like I burden my friends because I need help getting places since I don’t drive. I feel like I burden my boyfriend since he has to go to the store to get things for me on days where I have no energy whatsoever to even move. I feel like I burden my family since they are constantly worried about me and my health. Since I can’t go visit them because they’re three hours away and I can’t drive. I hate feeling like a burden on people, especially since I have no control over it.

I want to feel like a whole person, instead of a shell.

Thankfully, I have friends and family who support me wholly. I’m sure none of them consider me a burden. Sometimes, the best thing you can have is a support network to listen and support you on your bad days, and celebrate with you on the good.

So my advice for those living with a rare disease is to find that support network. My advice for those who know someone with a disease, is to be that support network. Be supportive, listen to them, and don’t judge. You don’t know what they’re going through.”

Ashley is a good friend of mine from, Amtgard, a LARP we both partake in. Another good friend of mine I LARPed with offered his words as well.

Martin Capasse gave a few words on his experience with Stephen Johnson Syndrome saying, “Stephen Johnsons Syndrome is a rare medical disease where your immune system attacks itself and sends your system into shock. Everyday movement becomes super labored. Like, getting out of bed is really really hard. Your skin comes off in sloughs. Your eyes are so sensitive to sunlight that you can’t go outside, or even turn on the lights. Sores are down your throat, so you can’t swallow properly. The only thing you can really eat is ice-cream, which comes back up a little bit later. Those same sores are in your ear canals. Hearing becomes a problem. Life is terrible and you sleep roughly 15-20 hours a day. I would only know all that because I had this disease for almost 2 weeks of my life. When medical doctors fought with my mother all two weeks, she only heard about the disease from a friend. When it came down to it, I was told to go to El Paso, specifically William Beaumont Hospital, where I was given 3 days to live after the diagnosis, had I not come in before hand.

If I had to say anything about that disease, I would probably have this to say: “Trust yourself. If you feel sick, do your research. Don’t let a doctor bully you into thinking your less sick than you are now. If you think you have something, push to have yourself tested. I almost died due to horrible medical doctors who were treating symptoms.”
My experience with pediatric Crohn’s I’ve already talked about plenty, this week will be dedicated to others with rare diseases who wish to speak out and raise awareness.
If you would like to submit your story or experience this week, you can send me approximately 500 word submission with or without a photo to my email: gshockey@wvup.edu 
Thank you!

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