The past few days have been…a lot.
Tuesday night I had therapy, which went well. It does kind of feel like it’s maybe a safe place where I can say or think or feel what I want or need to and not have to worry quite so much about being judged or looked down upon or whatever else.
But then…yesterday. Ugh. Yesterday was a hard day. We FINALLY made it to the appointment with our neuromuscular doctor (the main doctor in charge of our care and the one who sent us to the NIH last year). This appointment has had to be rescheduled so many times and the fact that we finally made it yesterday was a miracle in itself.
We left the house at 6am and didn’t get there until 9:20am. It was a brutal drive. But we made it.
Me and all 3 of my kids see this doctor, but we’ve split up the appointments between my older kids one day, and my 2 year old and I another day. It’s far less chaotic that way.
The appointment…didn’t go well. Not in terms of news about my health.
My balance and strength has gotten noticeably and significantly worse. They do a PT eval and everything there and it was truly shocking to me how bad I was. I couldn’t do anything.
I usually get pretty regular scores (4-5) on all my manual muscle testing both by her and my regular neuro doctor here in town, but I got multiple muscles that were lower than usual. Which is a really scary sign.
She also said she thinks my heart has gotten a lot worse. You know it’s bad when your doctor has to basically beg me to get insurance immediately because she’s like genuinely concerned about my health. There’s a ton of things she needs me to get done. Multiple different biopsies (biceps and quadriceps), X-rays, bone density scan, EKG/echo/holter monitor, and a ton of other things.
I basically asked her “how serious is this, because I have a tendency to ignore and diminish my own stuff” and she literally, with tears in her eyes, told me it was serious and I need to start taking my own health more seriously because I have 4 boys (including my husband 😂) to take care of.
She said there’s nothing we can do to slow it down because the research for it isn’t there yet. The only thing we can do is measure and monitor the protein levels in my fucked up gene (BAG3) and then eventually gene therapy, if the research gets there.
But the issue is that our specific gene mutation is so rare (like, it only exists in our family) the test for it doesn’t exist, and our best bet is to “know someone”. So…that’s rough.
She said I really have to be on PT and OT to save or hopefully recover whatever strength I have left. She wants me to get AFOs because my ankle stability is insanely bad, and I also need wrist/hand braces. And her PT is putting in a new order for a wheelchair for me because they really want me to have one. So as soon as I get insurance, they’re going to push all that through.
I also have significantly decreased sensations in my hands and feet to vibration, pin prick and temperature.
She is going to reach back out to the NIH to see if there’s anything else they want us to do from here, or if they want to see us again and follow up. We were there in February, so it’s coming up on a year since our last visit.
She didn’t charge me a single thing for the appointment even though I have no insurance. It was just a lot. I really wasn’t expecting all of that. Or maybe I was, and that’s why I’ve been so nervous for this appointment to begin with.
It’s scary knowing we have a legitimately fatal genetic disorder, and it’s terrifying to see just how much my disease has progressed in the last year alone.
I have no idea what the future holds for me. Or for them. I know my husband was pretty upset hearing all that our doctor had to say about my disease progression.
I guess I can’t be avoidant about it anymore. But having insurance is going to lower my husband’s paycheck by a lot. Like, at least $500 a month, and we cannot handle that burden right now. So I feel stuck and conflicted.
Whatever it is, we’ll figure it out. It’s not worth me dying because I’m not getting heart medication I know I need at this point. It’s just a hard place to be in. It’s just not where I thought I’d be in life. Drowning in medical debt because of a relentless genetic disorder, but the only member of my family without insurance because it’s insanely more expensive to add me.
I’m scared of losing what function I do have. I don’t want to *need* braces and wheelchairs and mobility devices. I don’t want to be in heart failure (left ventricular enlargement) at such a young age.
Like I said, it is what it is.
This week was hard.
And to top it all off, I’m sick with what seems like a bad cold (I think Phoenix gave it to me over the weekend, even though he seems fine now), but his classroom sent us a message yesterday that his class was exposed to Flu A 😭😭😭
So now I’m just waiting for shit to hit the fan with that. The flu took me out worse than I’ve ever felt last year, so it’s particularly terrifying for me to think about getting it again.
Anyway, that’s my Thursday update for ya. It’s a stinky one.
But at least therapy went well. And it’s starting to feel like a safe place, when I don’t always have to be so perfect.
Atlas kept himself quite entertained yesterday at the appointment when it was my turn to be seen, he did surprisingly well walking in my shoes.
I feel awful that all of my kids have to walk in my shoes. Sharing the genetic disorder that I gave them. I’ll never not feel guilty about it. But I didn’t know. I wasn’t diagnosed until after them.
It is what it is for me right now, and all I can do at this point is survive. Literally. And I’ll keep fighting however I can. Physically, mentally, emotionally…I’m doing the best I can. I’m giving it all I have.
I’m terrified of so much. Of all of this. Of my health. And theirs. Our financial situation, insurance. Losing my life. Feeling awful. Losing the ability to walk.
But even through the fears, I have to find the courage to fight anyway.
🫂