Rare Disease Day, for the 8th time

Tomorrow is Rare Disease Day. A day we advocate and bring awareness to the over 7,000 documented rare diseases that plague us. Less than 5% of rare diseases have a treatment – not a CURE, an FDA approved treatment. 50% of rare disease patients are children. Think about that one. Why 50%? Because a lot don’t make it to adulthood. I’ve been spouting these facts the last day of February for eight years.

For past Rare Disease Days, mom has made cookies for the kids’ classes, we’ve organized people to wear purple. I’ve visited DC and ran back and forth on the Hill to congresspeople’s offices sharing our story and asking for legislation to help the rare disease population.

This year I will share our story virtually to our legislators. Cooper and I will participate in a special ceremony with BioMarin (the company that makes Cooper’s infusion drug, Vimizim). I will speak on behalf of rare disease caregivers with Claritas.

But I feel like I have failed a bit. I am tired. I have organized nothing for Cooper’s school. The adults who “need to know”, know all the things. They are the caretakers and advocates in that setting. They are my superheroes. I feel like the rest of the kids – the “newbies” – the younger kids – need some rare disease education. At least a “please don’t stare, just say hi” lecture. I will get there, and it won’t be under the guise of Rare Disease Day.

It will be a busy, exciting couple of days. But I’m tired of the excitement. My excitement this year entails the real rare disease experience. Waiting for doctors to review Cooper’s MRI results. Need a new MRI? Probably. Will it entail stress and anxiety? Yes. Will the results of this or the next MRI say he needs surgery? Maybe. In the meantime, we’ll be going to weekly infusion, crossing our fingers that his port works. Crossing our fingers that his hernia doesn’t hurt too bad. Because we can’t fix the port or the hernia until we figure out what the MRI says, and what needs to happen after that. It’s spaghetti of a flow chart – If… Then…. Yes…. No….. We just don’t know.

And that’s the big picture for our rare disease journey, now isn’t it? WE JUST DON’T KNOW. How severely will be be affected? (I’m guessing very) Will he grow anymore more? (I’m guessing no). What will his next surgery need to be? How will he be treated in Middle School? Is his medical anxiety going to spill over into other parts of his life? It’s spilling into other parts of mine.

So on this Rare Disease Day, I ask that you pray for the grace, patience and peace of mind that Rare Disease patients and families need to navigate their journeys. The journey is exhausting. The Tippetts are blessed to have extraordinary support from our community, every time we turn around. But some more patience and peace of mind on my end would go a long ways…..

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