Harder than I hoped

This entire week has been, if nothing else, a truly unforgettable week. For about a hundred different reasons. While I’m not yet ready to recap it completely, today is our last full day here.

It consists of a good bit more testing, labs, EMGSs and EKGs. And who knows what else.

Yesterday was hard. Every day here has been hard, but yesterday felt especially hard.

When we were first planning our trip here, the hope was to walk away with a diagnosis. It’s been made clear that that will not happen this week.

You cannot diagnose something undiagnosable until quite literally everything else has been ruled out.

So, that’s where we stand. Genetic testing and more genetic testing. Luckily for us, we began this specific process of whole genome sequencing 7 months ago. So we already have a leg up on that process. Still, it sucks.

It’s hard to feel like I don’t belong anywhere.

I’m feeling a lot of hard feelings right now. I’m sick of hearing “there’s something wrong with you, but we don’t know what”.

I feel like an outcast, alone, and like I’ll probably die of whatever it is that’s trying to kill me before they actually figure it out.

There’s been a lot of theories tossed around this week. Some of them, my husband and I agree with, and others, we wholeheartedly disagree with.

While the week isn’t over and only 2 of the tests we’ve done have actually resulted, and echocardiogram for me, and pulmonary function test for Christian, my 7 year old, both of those tests have resulted in things that I already kind of knew, but still was hard to hear. My son’s respiratory muscles are so weak that he really cannot breathe, and I’m in the beginning stages or cardiomyopathy.

I think after going through this process, I feel more alone than I ever have.

I’ve been really intentional about being open about this process publicly. On Facebook, I’ve been open and upfront about most of this experience. That was important for me to do from the start.

I think the post I made last night says it all, and, while filtered, was honest and vulnerable, and worthy of sharing here.

——

You’re never really prepared for the moment when 5 doctors and researchers all come into a room to examine you, take photos and videos of you, and then leave to discuss you. I should have been, but it still caught me off guard.
Our case is not simple. But, for whatever it means, the NIH is interested in us. And our case. And therefore, interested in working to figure it out. Long term, and behind the scenes.

Our schedule was a bit more spread out today, giving us an hour break here and there. Christian and I got skin biopsies because apparently, you can do different genetic testing with skin than you can with blood. Who knew! More mris and pulmonary function tests…we’re making progress and shoving obstacles out of the way in the name of getting things done.

We’re complicated. It’s as simple as that. But, as one of the doctors in the room stated, “that’s why you’re here. We do complicated”.