It doesn’t matter why. It just is.

Yesterday was a long, long day. We had our regularly scheduled visit with our favorite doctor.

Every few months, we go to see the neuromuscular doctor who has been basically in charge of our care for years now and was the one who initiated sending us to the NIH. These visits are always intense, as we’re basically all her patients. Me and my 3 sons all share the same very unfortunate genetic disorder, and it’s just…a lot.

And it’s over 2.5 hours away. So that’s a ton of fun to do with 3 small kids and a body that hurts like hell being stuck in a car for that long.

But we made it!

And it was…a lot. These days always weigh heavily on my heart. We are the ONLY family in the world to share the exact same diagnosis that we have.

Which is wild.

It’s absolutely wild.

To be told over and over at every visit just how…unique we are. How people are going to learn from us. And how even if we don’t get answers for ourselves in terms of treatment or gene therapy…others in the future might because of us.

I’ve asked myself why for a long time. Why us? Why me, why my kids? What did I do to deserve this? To have a family with a built in childhood death sentence?

I’ve questioned it over and over again. Trying to make it make sense in my head. Not even just why, but how? How could this possibly be our reality?

It seems so far fetched that it doesn’t even seem like reality. Which is perhaps the biggest obstacle for me. Accepting that this is life. That it is real. And even if I question its possibility or impossibility, it isn’t going to change what is.

The appointment ended with about a million referrals placed and more things to think about. Bone density scans, sleep studies, urology, medications, cardiac MRIs and more.

She was concerned about the results from the muscle biopsy Atlas got last month, but they were super complicated, and she wanted to discuss them with a colleague before telling me exactly what it is that they meant.

In case you’re interested, his report said that he has:

Type 2 myofiber (muscle fiber) atrophy. The ultrastructural examination reveals nonspecific changes in the form of Z-band irregularities in several scattered fibers, occasional fibers harboring autophagic bodies and an isolated fiber with cylindrical spirals. Additionally, some mitochondria demonstrate a mildly widened cristate pattern.

So…yeah. Interesting and complicated. I can’t wait to hear what she actually translates that into what it means for him specifically.

I have no idea if he’ll ever walk. And it’s not that I care about any of their physical abilities or limitations, but, I guess I’d just like to know what his chances are. Will he walk? Will he die before he even gets the chance?

2 of my boys almost died just a few months ago. It was insane. And it definitely placed a permanent fear in me of just how real this all is.

I definitely never expected to be living the life I’m living. With 3 special needs kids with an unknown lifespan and a laundry list of significant health care needs, hospital stays, medical equipment…it’s a lot.

But we got through it yesterday. And we’ll get through it today.

My life is a weird one. And so much of it is unknown.

But I don’t get to ask why, or wonder how.

I just have to keep on going with it.