February 29, 2016 is Rare Disease Day. Since we only got Nugget’s official diagnosis last August, this is our first. I’m guessing that for those of us who have or parent rare diseases this is a day to whoop it up right? We blow up balloons, whip up a genetic defect cake and celebrate being one in 50,000? Right? No? Well, like I said, this is my first Rare Disease Day so if I bring the wrong hors d’oeuvres, the Rare Disease peeps will cut me some slack.

Ok, just in case you do some Googling and blow my story, here’s the truth. In addition to the party, Rare Disease Day is actually for raising awareness about rare diseases to lawmakers, healthcare professionals, scientists and to the general public. It takes place the last day of February every year and started in Europe (Good on you for being proactive Europe) about 8 years ago and has been gaining steam worldwide ever since.

Personally, I’m down with all this because if you have a kid who’s illness is listed way in the back of the diagnosis manual, rather than on page 5, it’s tough to get what you need. Countless times I’ve reeled off Nugget’s handful of diagnoses to to medical professionals only to be met with blank stares, or “Huh. I’ll have to look that up.” Reassuring right? Sometimes as I’m explaining the syndrome or giving details of things like missing ear canals and jacked-up kidneys I physically work to suppress my urge to proclaim, “Um, you know I’m a C student who went to college for art, right? But I seem to know a lot more of these big, important, sciencey words than you. Doesn’t that freak you out?”

So here’s your rare disease science lesson for the day:

  • A rare disease is any disease that affects more than 1 in 1500.
  • 80% of rare diseases are genetic in nature and 50% of rare diseases effect children (Which totally sucks)
  • There are over 6000 diseases considered rare and those are difficult to track because symptoms and effects vary greatly from patient to patient.
  • There are seldom cures for rare diseases

Here are the odds on Nugget’s combo:

  • He’s got Microtia Atresia, which weighs in at 1 in 12,000 odds. (rare)
  • Due to the Microtia he’s got Unilateral Hearing Loss which has odds of only 1 in 1000 (not rare)
  • His form of kidney disease has odds of 1 in 1500 though add to that his birth defect and it’s higher. (rare)
  • He’s got Childhood Apraxia of Speech, which has odds of 1 in 1000 (also not rare)
  • But when you combine all of his little bits and pieces together to get his overarching diagnosis of Bracciotorenal Syndrome, he’s 1 in 50,000. WhooHoo! Go Nug Go!!! Time to draw Mama some lotto numbers!

Whew. That was lot of big words and math for today and not nearly enough smart ass comments and fart jokes. Sorry about that. I’ll do better later this week.

Sure it sucks dealing with a rare disease. It’s stressful and difficult but here’s how I look at it, I have a little fat guy that is happy and hilarious and it’s looking like he’s smarter than his father and I both. He’s tougher at 2.5 than most grown men from all he’s gone through and because of him I’ve learned a lot of big medical words, everything about medical billing and insurance, American Sign Language, how to adjust a hearing aid, and how to be one hell of an educational advocate.

Rare disease or not, our little one eared wonder is amazing so in honor of Rare Disease Day today, we are going to celebrate. We’re going to whip up a genetic defect cake, turn some healthcare grade latex gloves into party hats and bust a move to the musical stylings of Rachel for Signing Times. I could say he’s one of a kind, but I have actual, genetically tested proof that my Nugget is one in 50,000. That’s pretty freakin’ cool.

 

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3 thoughts on “Cue The Balloons, It’s Rare Disease Day!

  1. “I could say he’s one of a kind, but I have actual, genetically tested proof that my Nugget is one in 50,000. That’s pretty freakin’ cool.”

    this line makes you the best mother on the planet.
    Happy Rare Disease Day (I never thought I’d ever type anything like that in my life)

    Hugs. You just rock.

    Like

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