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  • Writer's pictureAmanda Leigh

It's Rare Disease Day!!

Today is Rare Disease Day!! This happens on the last day of February every year so I wanted to do a little post about it today. There are a lot of rare diseases out there. "In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. ... In the European Union, a disease is defined as rare when it affects fewer than 1 in 2,000 people." (taken from the NIH website) As I said, there are a lot of rare diseases out there but I'm going to be focusing on the one I know most about. The one that I have. Nephropathic Cystinosis. I was diagnosed at 9 months old. They thought I had diabetes at first. Which, as I understand, is a fairly common thing to happen with Cystinosis patients. For a few quick facts about Cystinosis, here is an info graphic that my mom made.

Do understand, though, that Cystinosis affects us all differently. It affects some of us wildly differently than others. Some of us have to take more or less medication than others. It is common for us to be on the petite side but there are those of us that are quite tall. I myself am hardly 4 foot 8 inches. Like anybody, we're a varied bunch. What I say here is mostly about me because that's the experience that I know best.

This is 24 hours worth of medication for me. Well, not including my liquid medication. These are the pills I have to take in 24 hours time.

This is my medication station on the counter in my kitchen. Yes, that is Elvis on that cup. :) (I'm in love.)

This is my feeding pump for the night time. I still get used to the idea not everyone knows what a feeding pump is. I've had one in my room since I was little. (Young, I'm still little.) I have a feeding tube in my stomach (picture of one below) that I get medicine through. I need so much liquid medication that at night I hook the bag pictured here into my feeding tube and get "fed" my other liquid meds throughout the night. (Yes, on my walls you see Dr. Reid from Criminal Minds, Rocky from Rocky, and of course Elvis. <3 And my college diploma.) Oh, and why do I have that huge container of water on my nightstand? Well, because I drink A LOT of water. Chronic dehydration is definitely a symptom of Cystinosis I got in spades. I drink about 3 gallons of water a day. Which, to put it bluntly, means I pee A LOT, too. And get up a lot. The only times I've gotten a full night's sleep were when I was on some sort of really powerful sedative or pain med in the hospital.

image from

I really don't share this part of my life a lot. I'm a pretty private person when it comes to this stuff. Honestly, when I am in the hospital, often the only reason people know is because of my mom. That's just the way I am. It works best for me to just not dwell on it. Work on my writing and go on with my life. Do the other things I love instead of dwelling on this stuff.

And I'm not doing this to get pity. I don't want pity. I hate pity, in fact. Attempts at understanding are nice, though. I'm just sharing to raise awareness about one of the rare diseases out there and give a little bit more insight as to what I go through on a day to day basis. My family and friends know most of this stuff but the rest of you probably don't. I just wanted to shed some light on it. Maybe you'll go to some of the links I have below to find out more. Or even purchase that anthology mentioned at the top of this post. Don't forget, all the proceeds go to the Cystinosis Research Network!!

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