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…..


What the Hell? I know life in general, let alone life with a child with a rare disease isn’t easy, but lately the shrug emoji is what I use most often to describe WTH is going on.

Two weeks ago Cooper’s surgery didn’t go as planned. As a matter of fact, it didn’t go. You can get details on CaringBridge, but after anesthesia, the surgical team stopped because the Neuromonitoring system lost signal on the right side of his body – possibly indicating spinal cord damage. It wasn’t bad, but it wasn’t good. We just opened a can of worms. And we have to muddle through all these slimy, entwined worms before we can move on. Cooper’s hernia bothers him daily – to the point of tears sometimes. His port is becoming harder to work with during infusion. The situation is becoming urgent.

The next step is to get an MRI on Cooper’s C-spine. Orders have been faxed in. I called and the radiology scheduler told me I had to go through a screening process to see if Cooper should go under anesthesia for the procedure. (Insert WTH and shrug emoji here.) I mentioned that Cooper did not need anesthesia for his MRI 3 weeks ago. I did NOT however tell him that the last time Cooper was under anesthesia he narrowly escaped paralyzation. Scheduler said, NO, the screening still needs to happen. I’m a rule follower. I know he needs to check the damn box before we get scheduled. So I was transferred to the “screening” number and left a message. 19 hours later and still no call back. The irony is that he shouldn’t go under anesthesia until we figure out what’s going on with his C-spine, hence the MRI! A growing circle of frustration right now. I’ll call again today.

In the mean time, let’s not forget about my oldest, the “unaffected sibling”. She’s growing up, she doesn’t want to talk with me about “stuff” unless it requires turning on the internet or ordering something on Amazon. I’m so stinking proud of her. Straight A’s, she gives her whole heart to hockey. She’s funny, and sweet (although I don’t get to witness that side much).

Campbell, #43. Watching her thrive here fills my soul.

My self care is struggling. STRESS EATING. There, now that it’s published, I’m accountable for it. Valentine’s Day treats didn’t help. But that’s over, they were delicious and I’m gracing myself. I’d like to work out again. I’ll get there – I threw out my back last week and with chiropractic help I’m getting back to normal. I want to plan a girls’ trip, I’d like to figure out family summer vacation plans, but my planning is paralyzed with fear until we get Cooper figured out. The next MRI is just a piece of the puzzle. It may lead to bigger things – bigger than the port and the hernia. It may lead to spine surgery. Which would mean another summer “vacation” in Delaware, and recovery at home, on the love sac, next to Velocity. Which is fine. We are blessed to have the right teams in place to help make decisions. I’m just a planner and this in between, waiting on checking the next box is torture for me.

I’m reading at night instead of scrolling on my phone. Check out “Present over Perfect”. It helps me slow down and connect with what is really important TO ME, not what is important to others. Which I desperately need. So in the vein of self-help, I’ll list what I’m grateful for: Velocity, home, my health, supportive family, community, out of this world friends, hockey, fun times, my job, modern medicine, garage door repair guys. You may ask, “Garage door repair guys?” Ask Brian about how I backed into the garage door. And now I’m slowing down? Perhaps I should have slowed down a while ago. But this is where I’m at, where we’re at. All I can do is make adjustments (chiropractor joke, hahaha), embrace the now and move forward.

Update: after speaking with radiology (thank you Caylee at CHCO radiology who heard my cry for help), we are scheduled for an MRI on this Friday!