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Rare Disease Day 2022Posted on March 2, 2022 by melelllan

I missed writing yesterday because it was a rare day, indeed; one in which I actually had some place to go and hang out with my other daughter. Such a day comes along slightly more often than once a year, but I would not forego it for anything.

So, what is a “rare disease”? In the US, a rare disease is one that affects less than 200.000 people. You can find some basic facts here, on rarediseaseday.org

Taken altogether, rare diseases really aren’t that rare. According to that site, 300 million people, worldwide, are living with a rare disease; that’s not much less than the entire population of the United States. Between Katelin and I, we have 4 rare diseases. So far three of them have some form of treatment and soon (evil eye to the FDA if they say no) all four will have a treatment.

Given the sheer number of rare diseases (approximately 7000) and only about 5% having treatments, it’s rather amazing that we lucked out so well. I often joke a bit and say between all of our disorders, Katelin and I have saved quite a few people from being a statistic. I dare say that is a very common thing though; all those 1:300 have this 1:100 have that are often many of the same people, so I don’t put too much stake in how it makes it sound like every single human is living with a severe affliction.

I could just keep this about Rett syndrome. It’s rare; it sucks. It’s a rare day that it doesn’t rear its ugly head and be too much for so many of our beloved children. It’s a rare day that my heart doesn’t break just a bit when a new parent posts on the forums…my daughter/son got diagnosed last week/last Friday/yesterday. It’s a rare day a child isn’t fighting for their life, to breathe, to stop seizing. I’m sustained throughout because it is also a rare day when a child doesn’t take their first steps, reaches out to hold something, says something amazing on their eye-gaze device, or say their very first word.

Here’s another thing about rare diseases, and I can speak from personal experience here; they ensure you have the rare power to see the spectacular in the littlest of things. That is a rare, rare gift. I pick so many flowers for Katelin to smell and examine. I talk about the texture and the pollen and the bees that come, how one is so different than another. I can tell which ones she likes because she turns her head if she doesn’t and tries to eat them if she does, lol. It’s a game, I know, she leans in to smell it more. Not too many people would notice these flowers. And the butterflies! We must notice the butterflies, the embodiment of the ones who have left us and return to play. Samara comes so often, mostly as a Monarch. She flits this way and that and sometimes comes when I call. She’ll hover right in front of Katelin and sometimes land on her shoulder. Melody, sweet Melody, is a little white one. She has many, many people to greet so she never stays long. And so, our days go by filled with little wonders that balance out the hurt and grief of it all, even if some days it’s just a bit.

I won’t keep this to just Rett syndrome, though. My life has been touched by others with rare diseases. My friend who had ALS, a friend whose daughter’s disorder is one of less than 10 in all the world, dear, sweet Brooke who had Tay Sachs. Rett syndrome is awful, but so are a great many others.

To that end, I’m grateful for all those who research, enter trials, bravely dare in the face of great odds to live their best life, treasure the truly spectacular moments- a smile, a step, a bite, a butterfly. 7000+ rare diseases, let’s hope that science can catch up a bit quicker.

Just one more thought- in a world gone wrong, one in which people almost try to find something to be upset about, I find that having a rare disease often makes you truly rare; I see it every day in the way our children are kind and empathetic, in the way so many parents reach out and surround those who are hurting, with love and understanding. Perhaps, in this one thing, we might all try to make kindness and empathy not so rare a thing that it can be pointed at in awe.