Friday, January 29, 2016

World Rare Disease Day 2016

World Rare Disease Day is one month away! This year it happens on February 29, the rarest day of the year!

I'm not sure what, if anything, we are doing for Rare Disease Day this year. This may be the most we do is this blog post and change the profile pictures on Princess's Facebook Page and my own. Why is it that I'm not sure if I want to do anything for Rare Disease Day?

Well, there's a few reasons to that. Even though Princess is in preschool and we could get a lot of support from her friends and the parents, I'm not sure it's worth it. It's kind of difficult to explain things like this to preschoolers.

On top of that, being the parent of a child with an invisible rare disease is lonely. Yes, I have found a few people online who have children who also suffer with the disorder, but there are only 4 of them. So it's pretty lonely when your child has a disease that no one even knows how prevalent it is.

I follow a lot of kiddos on Facebook: preemies, kids with kidney issues, other rare diseases. Every time one of them has blood pressure or potassium issues, my heart skips a beat. Might I be able to help another family get a diagnosis? Might there be another child somewhere with this disorder? Sadly, most of the issues appear to be related to other disorders or problems.

Princess's illness is invisible. It's controlled by medication. On occasion, I've been able to talk to other parents. I try to avoid saying the mouthful that is her diagnosis. I don't know why I do that, but I feel it's easier if I just break it down for people as to what it truly is. Sometimes I relate it to a food allergy. But it's not a food allergy, but that's kind of the closest thing that I can relate it to so people understand. She wouldn't get sick as quick as with an allergy causing anaphylxis. Sadly, I don't know how quickly she would retain potassium if she wasn't on her medication. It's not something I want to find out. Hyperkalemia usually is diagnosed because of something else. The symptoms of muscle fatigue, weakness, heart arrhythmia, nausea are usually symptoms of lots of things. So it's not like she would necessarily show symptoms. And besides, with here CP, the whole muscle weakness thing is difficult to tell anyway.

I'm not sure what to do as Princess gets older either. Is she even going to want to tell her classmates why she can't have bananas or pizza or french fries? I guess I'm going to leave it up to her as to whether we ask her classmates to wear jeans or we make ribbons to pass out. So I guess we are in a transition phase right now. I did create new profile pictures through Global Genes. And I'm contemplating the "Denim Dash" but maybe not this year. Maybe next year, being it's a virtual 5k.

This is my profile picture on my personal Facebook page.

This is the one for Princess's Facebook page.
But beyond those things (and a Facebook cover I created) I'm not sure we're going to do much this year. It's just hard when you feel like your child is the only one who has a disorder, even though 1 in 10 people will be diagnosed with a rare disease in the US. This does include types of cancer and more "known" rare diseases like cystic fibrosis, malaria, Alzheimer's, cleft palate and lip, Ehlers-Danlos, any number of chromosomal deficiencies and even cerebral palsy! The reasons why there are more "known" rare diseases on Global Genes RARE List is actually quite simple: In the US, "rare disease" is defined where there is a prevalence of less than 200,000 cases. Disesase such as malaria are quite common in parts of the world, but considered rare in the US. And diseases such as cancer and Alzheimer's are not rare as a whole but do have certain forms that are considered rare. So being "rare" doesn't mean we are alone, but some days it sure feels that way.

Linked up at #bloggybrunch


  1. I don't have a rare disease, but I do have Crohn's Disease, which affects roughly 565,000 Americans. I was diagnosed at 8. I think it was easier for me to be diagnosed as a child than as a teenager, which is more common. Children are less likely to feel shame. I was too naive to feel shame or embarrassment over an Irritable Bowel Disease!

    I have always been very open about it. I even blog about it, sometimes describing my symptoms in graphic detail. Since it's an invisible illness, I "don't look sick." It's important to me to advocate for all people with an invisible illness by using my own story to challenge assumptions about what it looks like to be fully able-bodied.

    1. You are so correct about advocating! So many people "don't look sick" but battle invisible illness. That's why I love when people post their "bad days," "hospital stays," etc. Because it lets the world know that I may look normal, but my life is anything but normal, except to me.

  2. Thank you for sharing this! I don't personally know anyone with an invisible rare disease (well, not that I'm aware of anyway!), but I like to learn up about these things, because you never know who you're going to meet...and some people might not feel as comfortable talking about it.

    1. Depending upon how many people you know, you probably DO know someone who's got a rare disease, a rare form of cancer, or something along those lines. There's over 7,000 "rare" diseases. 30 MILLION people in the US have one. So it's likely you know someone, they just chose not to make it known. Everyone is fighting some battle, most of the time we just don't know it.

      There was a graphic Global Genes posted last year I think that there's one person in every elevator who has a rare disease on average. 1 in 10. 10% of the US population. It's pretty mind blowing when you think about it like that.

  3. I love how open you are about everything on your blog. I think it's great that you take the time to share your experience with things like rare diseases. I'm sure you're touching lives every time you share a story. :)

    And I agree - she should definitely decide in the future. It's great to let kids take ownership of things for themselves.


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