Today is Rare Disease Day!
A few basics:
1. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.
2. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million Americans.
3. The exact cause for many rare diseases remains unknown. They are known to be largely genetic and rounded out by environmental factors.
4. There has been some progress, but there are no treatments for the vast majority of rare diseases.
5. An up-to-date list of rare diseases can be found here.
There are two rare diseases in particular that have affected me most personally.
I've written about myasthenia gravis before. It's an autoimmune neuromuscular disorder that affects voluntary muscles. Common symptoms can include a drooping eyelid, blurred or double vision, slurred speech, difficulty chewing or swallowing, weakness in the arms and legs, chronic muscle fatigue, and difficulty breathing. There are a few treatments for MG, including surgery and medications (which is what my personal plan has looked like), but no cure. When I was diagnosed, I was 12 and had recently started both puberty and jr. high. Good thing I was already well versed in being an outsider! MG was the first of my countless future diagnoses and will always be dear to my heart.
Speaking of dear to my heart -- the rare disease that devastated my life is Tetralogy of Fallot. Tetralogy of Fallot (teh-TRAHL-ah-jee of fah-LOH) is a set of four congenital heart defects that occurs in 5 of 10,000 babies. There are ways to manage symptoms, but the only way to repair these defects is through open heart surgery. The success rate for this surgery is pretty high, though I can't seem to find a statistic that I understand to prove it. Anyway, I know this because my daughter, Maya, was one of the few who did not survive it in 2002. It was apparently her best hope and has been a success for other "tet" babies I've known.
So! Now that you know there are 25 to 30 million Americans with at least one rare disease, it's safe to say you know at least one of those people personally. 9 Ways to Support People Living with Rare Diseases and Disorders is a good place to start reading.*
*This blog is sooo close to passing 20,000 views. If it does, on this Rare Disease Leap Day, I will imagine Misha Collins tossing confetti over my head and a red velvet cupcake appearing in front of me.
Wednesday, February 17, 2016
Since things had been kinda dark for awhile, I went on a short retreat all by myself last week (and somehow managed to not accidentally maim or kill myself in one facepalm-y way or another). It was a massively necessary and fruitful trip. I was able to get a better handle on what my life is all about within the parameters I've been given, which caused my "resting bitch face" to be interrupted by more smiling than usual and my mania to surge all the way up to "Kool-Aid Man".
In addition to communing with nature, I did as much writing as I could type and have since been able to hold a pen well enough to do crosswords. My focus has been better the past few days and I feel less stupid since it turns out I'm still capable of completing that kind of puzzle.
Of course, I got so wrapped up in my successes of the past week that I immediately forgot how weak my entire body is right now, did too many things in a row, and now have persistent double vision and full body complaints from "getting things done" and arranging myself into optimum crossword doing position. Classic Melissa. Back to eyepatch training and needing a shower spotter. (No, I will probably never learn.)