“It’s complicated”

After nearly 6 hours of driving, an hour and a half of actual face time with the doctor, and 1 and a half blowouts…we made it home late on Tuesday night, with probably more questions than answers.

It boils down to “it’s complicated”. There’s no clear path when it comes to our family and our diagnosis.

Here’s the “brief” synopsis of what went down.

Because we’re literally the only people in the world with this particular variant of our genetic disorder, science doesn’t know it exists yet. And until we can “prove that”, it makes things really hard. So even though we know what it is, we still have to prove that this variant is pathogenic, as opposed to VUS (variant of unknown significance). It’s the battle we’ve been facing for years.

All that is to say, she’s sending us to the NIH (the National Institute of Health), where they basically have unlimited resources, and can do any and everything that they can possibly think of for the 4 of us (myself and the 4 kids, my husband doesn’t have our fun genetic disorder. Boring.) We’ll probably spend a few weeks there.

Atlas will be getting a muscle biopsy rather immediately, as long as the NIH says we can do it beforehand (she’s friends with them and texted them the other day to make sure), possibly a gtube at the same time if it’s necessary.
We’re going to start the other 2 boys on some new medications (because even though they weren’t there, she still asked about them in detail)

And…she officially took me on as a patient!!! Since she moved into private practice, she isn’t limited to just peds anymore, but VERY specific muscular disorders instead. And that’s awesome. She’s seen me unofficially a few times, but now she can for real.

She’s not happy with how Atlas is looking, obviously, but we don’t know what to do about it right now. So…off to be guinea pigs at the NIH. Hopefully within the next few weeks.

So…yeah. It’s complicated. And not easy. And we always leave with more questions.

Right now, we’re just hoping and praying he doesn’t continue to decline before the NIH can get ahold of us and hopefully offer some insight or clinical trials.

It’s been a long journey. And a frustrating one. I hate watching my baby decline. But we’re doing all we can.

We’re already sitting at our first doctor appointment of the day, big shock there, and he’s getting fitted for his first pair of AFOs.

So that’s where we stand. Just…waiting. And hoping.

I’m exhausted. But we can’t stop now.

Surgeries, tests, and everything you could possibly think of coming up next.

At least we have the best advocate I could possibly think of.