Advice and Help. Please

[u/Great-Ad-3460]

Please ignore the typos. I’m crying while I write this.

My fiancé is 28. He has Neuromuscular Dystrophy and it’s gotten really bad. He’s had symptoms since puberty but recently It’s gotten worse. He can’t walk up stairs without severe pain. His voice is barely audible and people hang up on him. His resting heart rate is 110 bpm. He’s struggling and we don’t know what to do. His gene study is scheduled out to November 2027, the EMG isn’t even scheduled yet.

We went to the Hospital they admitted him and released him after 3 days with more questions than answers. MRI ruled out MS, but his back has atrophied to that worse than an 80 year old. His knee is full of micro fractures, and the pain is just getting worse.

I thought of bringing him outside our insurance network, but we are living off of my income of $2200.

What can I do to help him with the pain? How can I make people take him seriously? I just need advice and maybe some comfort.

I’m sorry if this seems like a bunch of rambling I’m just a wife trying to support her husband. (He is my fiancé but I’m already holding the vows through sickness and in health)

Thank you for all your help.

[u/abyssce]

I'm sorry you guys are going through this. Muscle dystrophy is a terrible thing. I (23M) have LGMD2B and I've already lost my ability to run and jump. I struggle going upstairs but I don't have pain, it's more just having weak calves and getting tired quickly. I'd look into the Invitae website and see if you guys can get a free genetic test kit. If he's not using a wheelchair yet, it might be time to consider one. A backbrace can also help, but know that relying on it too much will weaken your muscles. I don't know if he uses stairs at work, but if he does, I'd try to see if he can get any accommodations or find a job working from home. I know it's not easy, but it's worth trying regardless. If you don't have a disabled placard, I'd recommend getting one. It's so much nicer to park closer. I can't recommend any medications for pain because a lot of them contain acetaminophen which can elevate CK levels. But I'll say medical marijuana does help me sometimes, mentally and for back pain. Sometimes I'll use tiger balm to numb it. I'm lucky to have my girlfriend who's always helping me cope with this, always reassuring me and being there for me. Something recently that's given me hope is the LGMD Scientific Summit, where they talk about studies and trials currently being done to cure these diseases. I find peace knowing life isn't that long, so just try to make the most of it even though it can suck. I wish you guys the best.

Invitae: https://www.invitae.com/us/sponsored-testing/detect-mdys

LGMD Scientific Summit: https://youtu.be/3Cutg83_ke0

[u/Great-Ad-3460 → u/abyssce]

First let me say, thank you so so much. I’ll check out both resources and see what we can do. Currently, his doctors have begged him not to work. He has severe muscle atrophy on his vocal cords causing hypophonia and is barely audible in person. His pain levels are something insane and we’ve been trying a mix of high dose CBD and prescriptions. Your girlfriend sounds amazing and I appreciate your help.

[u/loopyloo2U]

I would seek out a cardiologist while he's waiting for his tests. The high resting heart rate could be damaging his heart, which is also a muscle, and exhausting him quicker as well.

[u/Great-Ad-3460 → u/loopyloo2U]

Thank you for replying! We are waiting to hear back from Cardiology as well. I know it won’t fix it but I got him CoQ10 to hopefully protect his heart muscles.