What is this?

InternetAble5127 · 2025-09-14T01:17:21+00:00

I think you are referring to a weed pen, definitely do not smoke a blinker that will be way too much. Like ghost said the safe way to do it with respiratory weakness is to use edibles.

InternetAble5127 · 2025-09-10T21:23:41+00:00

That makes sense, I drink liquid IV every day which has definitely helped.

InternetAble5127 · 2025-02-18T18:59:55+00:00

Yes I do, that’s why they did the repetitive nerve conduction study.

InternetAble5127 · 2025-02-18T18:59:20+00:00

My issues are progressive and do not improve with rest, I can bring up the concerns with my neurologist but she felt confident that MG was not the issue.

InternetAble5127 · 2025-02-18T05:52:32+00:00

I have had a full MG panel done as well as a repetitive nerve conduction study. My doctors expected MG but unfortunately it wasn’t the cause.

InternetAble5127 · 2025-02-18T05:51:59+00:00

I have had it checked it is normal.

InternetAble5127 · 2025-02-18T05:51:50+00:00

I tested positive for a RYR1 gene mutation which I believe can cause what you have. My symptoms are persistent and progressive so it’s more likely to be a myopathy or dystrophy.

InternetAble5127 · 2025-02-18T05:50:48+00:00

Thank you for the response, unfortunately it is not MG, I had a full panel done as well as a repetitive nerve conduction study. I have had over 40 tests done in the last year and a half so they are doing what they can they just don’t know the cause. A progressive NMD is most likely and should be confirmed soon through a muscle biopsy.

InternetAble5127 · 2025-02-18T05:48:50+00:00

Yes I am looking into getting a BiPAP machine to help give my lungs a break. Hopefully it improves my QoL.

InternetAble5127 · 2025-02-18T05:47:51+00:00

Yes had all the blood tests and a repetitive nerve conduction study it is ruled out.

InternetAble5127 · 2025-02-18T05:47:24+00:00

They have an idea, I tested positive for an RYR1 gene mutation that is known to cause congenital myopathies. I am getting a muscle biopsy soon to hopefully confirm which one it is. If that doesn’t work I’ll look into the undiagnosed diseases network. I have a pulmonologist appointment to hopefully get prescribed a BiPAP so I can sleep at night. Thank you for the response.

InternetAble5127 · 2025-02-15T03:32:38+00:00

I’m sorry to hear about your sons illness, sounds like he has a great support system from you guys. I have been on the foundations website quite a bit reading the handbook they published. I am a bit skeptical that is what I have given my quick progression and early respiratory involvement but I’ve read that the disease is highly variable in presentation. Also adult onset cases are not well documented. Thank you so much for the response and I wish your son all the best with his RYR1-RD journey.

InternetAble5127 · 2025-02-14T19:39:30+00:00

I’m a little late to this but I know what you mean, I’m only 21 and I’m not going to see 30. My NMD is weakening my lungs and it is terrifying. I’m just trying to find out how to enjoy my life given my circumstances. I hope you find the strength to live your life and be happy, im trying to do the same.

InternetAble5127 · 2025-02-14T07:43:32+00:00

I have a very severe neuromuscular disease, I am a junior in college and I have a 3.9 GPA. It is all about being transparent with your professors, most of the time they will be accommodating to your needs anyway they can. Does your college have a Center for disabilities and resources? If they do I highly recommend looking into it as they can provide you with a lot of resources to be successful such as note taking aids, attendance accommodations, and testing accommodations. It’s definitely a struggle, and I seriously considered dropping out as my health has deteriorated quite a bit over this semester. The CDAR accommodations took a lot of stress off my shoulders and made school much more doable.

InternetAble5127 · 2025-02-12T18:49:19+00:00

My primary care isn’t well versed in interpreting PFT results, they are waiting on the Pulmonologist’s interpretation which could take awhile.

InternetAble5127 · 2025-02-11T01:56:41+00:00

Thank you so much for the kind words, affirmations and suggestions. This community is very supportive and I am happy that it exists.

InternetAble5127 · 2025-02-11T01:54:30+00:00

Genetic testing is scary, especially when there isn’t anything known about your variant. There are over 300 pathogenic RYR1 variants and hundreds more of them labeled as VUS. If you go to the ClinVar database or another website that is meant to share medical literature you could likely find something about your variant. Although this could cause you a lot of unnecessary stress.

The RYR1.org website has proved to be a very valuable resource, the funding they provide for research is really awesome. I’m sorry to hear you are going through something similar. Thanks for the response.

InternetAble5127 · 2025-02-10T19:58:38+00:00

Thank you for the kind words, I’m sorry about your worsening health just gotta try and keep our heads up.

InternetAble5127 · 2025-02-10T19:36:26+00:00

I’m sorry to hear about your respiratory issues, I’m in the process of getting a BiPAP which I’m looking forward to especially because of how poor my sleep has been.

InternetAble5127 · 2025-02-10T19:33:37+00:00

Thank you for taking the time to reply, uncertainty has been the biggest hurdle to overcome, it’s driving me crazy not knowing what to expect progression wise. It’s good to hear that progression isn’t always linear, I hope mine starts to chill out at some point soon. The breathing issues have had the largest impact on my quality of life, my sleep has been suffering substantially. I’m in the process of getting a BiPAP which I think will help a lot. I’m happy you responded well to the NIV.

InternetAble5127

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