Today is the day I’ve been dreading.
The day we take our 12 month old to Dallas for his super big important emergency appointment to see our neuromuscular doctor. She’s worked with our family for a good few years, and she’s pretty much the head doctor in their care. Remember, we have a super weird and rare genetic disorder that is basically like a muscular dystrophy. All 3 kids…and myself…have it.
He’s been declining in strength rapidly, and everyone is concerned.
Yesterday, our PT wrote a letter for us to give our doctor today. I’ll share that here.
None of what she said was new information to me. I’m well aware of everything going on, everything that’s happening. But seeing in written out like that…it broke my fucking heart.
In case the pictures don’t load right, basically, it’s a heartbreaking letter highlighting every way he’s lost strength and ability over the past few weeks. The last 2 paragraphs specifically, break my heart into a billion pieces.
“All of these symptoms are worse towards the end of an hour-long PT session. His treating OT therapist is noticing similar decline in function over the last 2 months and towards the end of OT sessions as well.
Given the categorization of myofibrillar myopathies among the muscular dystrophies and given the rarity of his specific diagnosis, I would appreciate guidance from you regarding the appropriateness of strengthening and attempted habilitation of endurance and next-level motor skills. If his specific mutation results in the lack of ability to gain new muscle tissue, I worry that the continued emphasis on the repetitive practice of motor skills may be speeding up his decline in muscle strength. Please advise as to whether treatment should be redirected towards compensatory strategies and devices vs strengthening in your opinion.
We are surprised by the speed of his regression over the last 6 – 8 weeks. Having treated his brothers, who have the same diagnosis, over the last 5 years, I am familiar with the periods of regression followed by periods of progress and new motor skills. Atlas’ regression, however, seems faster and more pronounced, which makes me wonder if physical therapy might be facilitating decline at this point.”
I’m so glad I had therapy last night. After reading that, my heart breaking, just…everything that’s been going on…it’s just been a lot.
His appointment isn’t until 3 today. And it’s a 2 hour drive…if there’s no traffic.
Today is going to be a long and brutal day. And I’m just…I’m so emotionally spent.
After I got home from therapy last night, I was fine. I was in a good mood, and everything was fine.
But then I just crashed. I broke the fuck down. And I cried for a good…hour? Sitting in the bathroom, alone, and hating myself. Hating that I did this to them. Blaming myself for giving this to them.
I didn’t know it then…it took an eternity to get a diagnosis. Not until after my second son was born.
So yeah. A lot of self hatred. A lot of guilt. And a lot of tears.
There are a lot of things I hate myself for. But this is easily the biggest.
Giving my kids my fucked up genes.
Last night, mid breakdown, my best friend reminded me of something that I said to her when I was first thinking about getting pregnant with Atlas…(knowing nothing at the time about the odds he’d inherit it, it wasn’t until after I got pregnant with him that we finally saw a geneticist) and it…it hit hard. In a good way. But also in a…well thanks, now I’m really crying kind of way.
She said –
“But it is hard. It’s really fucking hard and it’s so fucking shitty. There’s really no other way to put it. And yeah, this maybe came from you technically. But you didn’t know with Christian and Phoenix. And then as far as Atlas goes… (and I’m not at all saying that this is going to turn out in the worst way possible, so please please please don’t take it that way) I just remember this conversation that you and I had before you got pregnant with him.
You asked me if I thought you were crazy for wanting to have another baby because you just wouldn’t feel like your family is complete without one more.
And I straight up said yes I do think you’re crazy for thinking about it because I’m scared for you it, god forbid, things turn out bad. But you know what I remember the most about that conversation? I VERY clearly remember you saying something along the lines of it doesn’t matter how short their lives may be, they are still worth it. They are still worthy of a life at all.
And it really was exactly what I needed to hear. It was the reminder I desperately needed.
They’re so worth it. He’s the happiest baby in the entire world, he is so, so loved, and he knows it.
At the end of the day, we never know what comes next. None of us do. We’re all working with what we know, with what we assume. I don’t know what today will bring, what news we’ll get, what tests, surgeries or medications will come.
But no matter what happens, these days with him make it all worth it.