Its Not Easy Being Rare

Kermit the frog says that its not easy being Green, and likewise, its not easy being rare either. Today is rare disease day and to really illustrate for you what its like to have a rare disease I want to tell you about my day today.

First some information on Rare Disease Day. Rare Disease Day is run by The National Organization for Rare Disorders (NORD) and Global Genes, which researches genetic diseases. A rare disease is classified as a disease with less than 200,000 living with it or less than 1 in 1500 people who have the disease. Of course this is always changing and many diseases are classified as rare (like mine) when they are actually not. 80% of rare diseases are genetic,which makes them harder to treat, and the biggest thing is that 95% of rare diseases have NO FDA approved treatment! This is really bad and means that many people with rare disease have to use medications with off label treatments and bad side effects. We need more research and more awareness so we can find treatments!

So my day today began the day it always does, by not having enough energy to wake up. It was 9:45 and I finally groaned awake when my phone beeped. My professor had cancelled class! Hallelujah!  Then I got another call that my endocrinologist appointment was cancelled too because he had an emergencey patient. So, I went back to sleep until 1PM. For me this is a normal occurrence because of fatigue and malnutrition. When I did wakeup it took me forever to start doing anything. I finally got dressed and got out the door around 2:30.

The first thing on my agenda was to get food to be able to take my medications! I ended up getting the same thing I always get which is a gatorade and fries from our cafeteria. I went downstairs to our Hillel lounge to eat it. The first step was to dissolve my medications in the gatorade. I cant tolerate many pill form medications so I do liquids and powders instead. I waited for it to dissolve and then took all my meds. Then I ate a bit of the fries before i got nauseous and threw up.

I made three medical calls. One, I needed to reschedule the endo appointment. I cant apparently get it until 2 weeks from now which is really annoying because I need a med refill and this is a new doctor so he cant just call it in. Two, I needed to reschedule my neuro appointment because when i scheduled it three months ago I didn’t know my class schedule but now I realize I have class then. So I had to reschedule for another three months from now! UGHHH. I love my neuro, but he’s always so busy. The last call I made was for a wheelchair repair because my less than a year old chair is having some problems. They’re coming to fix it on Wednesday baruch hashem!

After that, I went to the library to catch up on some homework, and put up my rare disease day video! Then I went to Starbucks to get a frappe because liquid calories! I got some groceries from our on campus 7-11 type store which was gatorade for electrolytes, pasta which i can sometimes eat, and chips for salt.

I speeded with my chair down back to my room, took more meds, and then barfed 3 more times. Now I have to use the remaining spoons to make dinner, take more meds, take a shower, make a favorites video, and take more meds before bed. This wasn’t even a bad day for me! Some days I have way more to do, way more throwing up, and way less energy.

Friday I have a doctors appointment to discuss next steps for my GI issues which it seems are functional and undiagnosable. I have some hope but have given up on finding a definitive cause. Treatment is going to be trial and error. Thats one of the annoying things about being rare.

Even though its hard, I wouldn’t trade my zebra stripes for anything in the world. I love being rare and being part of this big and amazing community.

Learn more about Rare Disease Day at Rarediseaseday.org and globalgenes.org

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