Hi group! I am a 25 YO F who is seeking support/advice from other tracheostomy users or caregivers. My brother, 23 YO M, was recently hospitalized for severe pneumonia & RSV resulting in his first ever intubation after he went into respiratory distress on Bi-Pap in the ICU due to mucus plugging. This has been downright the hardest and scariest time in his life and our family’s lives. We are so thankful he is here with us today and using a new tracheostomy. He is going to come home from the hospital here in the next 2 weeks & I have never been so scared in my life. I’ve been having panic attacks & crying a lot (hiding it from him and Mom so they aren’t scared). He is weaning from the vent - using 30% O2 and 5.0 Peep then does trach collar trials. Anyways, he has been having what I refer to as “episodes of brief apnea” where he gets secretions built up, coughs a lot, panics, says he can’t breath, his vitals fall, he gets suctioned, we kick on the ventilator, we keep him calm & he’s okay - at least for now at hospital he has been. Is this scary feeling normal for trach users? We suction him (lungs and mouth) before he lays flat or turns every time. We constantly ask if he feels like he needs suction etc. They all happen at the most random times too so it’s so hard to garage. One time he had one when I was suctioning his mouth? It is so freaking scary. In addition, due to his Duchenne MD, he has minimal ROM in hands & cannot lift up his arms. He cannot suction himself if he needs help. If he doesn’t have speaking valve in and someone isn’t watching him 24/7 he won’t be able to alert us he feels like he can’t breathe. I am so scared to bring him home because there is no way we have night shift nursing set up in 2 weeks and no way my Mom and I can function / work without sleep for the rest of our lives.

I just want to know what other families do at home to keep their loved one safe? Or any positive experiences/advice/support groups etc is also greatly appreciated! Thank you so much!

Hi everyone. My daughter was diagnosed as a carrier with DMD last year. She has some symptoms we are monitoring. Her last liver enzyme levels were taken back in September (somewhat elevated, ALT 91 and AST 111). Her last CPK levels were taken in October (3186 IU/L). She's currently not receiving any treatment as I'm told the only treatment option would be steroids, which we don't want to start until we're very sure her muscle pains etc are significant enough to warrant the risks/side effects of steroids.

My daughter has been complaining more frequently about leg and foot pain and still is pretty clumsy. I contacted her neurologist about this and asked if we could repeat the labs, but she said she didn't think it was necessary at this time (although recommends retesting iron/ferritin and testing vitamin d).

So I'm just trying to figure out how frequently it's common for a toddler girl with DMD to need testing for these two things. I've been really struggling to get her a good care team set up (pediatric specialists in Tucson, AZ USA are just rapidly leaving) and I really don't want to drop the ball anywhere.

Traditional View: Sodium Channels Are Key

1 Myotonia Mechanism

* Myotonia in DM1 has traditionally been attributed to sodium channel hyperexcitability due to misregulated splicing of the SCN4A gene (encoding skeletal muscle sodium channels).

* Sodium channel blockers like mexiletine are the first-line treatment for myotonia because they reduce muscle hyperexcitability and improve relaxation.

2 Chloride Channel Dysfunction:

* DM1 also involves misregulated splicing of the CLCN1 gene, which encodes chloride channels.

* Chloride channel dysfunction reduces the muscle membrane’s ability to stabilize electrical activity, contributing to myotonia.

Newest View: Calcium Dysregulation Matters

1 Calcium's Role in Myotonia:

* The newest studies suggests that calcium dysregulation (e.g., excessive intracellular calcium) exacerbates muscle hyperexcitability and contributes to myotonia.

* By blocking calcium influx, drougs as verapamil may help normalize muscle excitability and improve relaxation.

2 Chloride Channel Improvement:

* Calcium dysregulation can indirectly worsen chloride channel dysfunction.

* By stabilizing calcium levels, drougs as verapamil may improve chloride channel function, further reducing myotonia.

3 Sodium Channels May Not Be the Whole Story:

* While sodium channel dysfunction is important, the newest studies imply that calcium and chloride channels play a more significant role in myotonia than previously thought.

* This could explain why some patients don’t respond well to sodium channel blockers like mexiletine.

Source: DeepSeek

I've had two cats (not at the same time) and they both treated me differently than my partner.

Our first cat never bit, scratched or hissed at me, but would bite and scratch my partner during play time.

Our second and current cat isn't as chill and will play bite, but it seems to hurt my partner more than me. Either my pain tolerance is way higher than hers, or he is being more aggressive with her during play time than he is with me.

I'm more of a dog person and I have always had good interactions with dogs. I've never been bit aggressively by any dog.

Hello, wondering if anyone can help.

I'm looking to get back into working out, and I'd be curious to see what others' workout routines are, if you do work out. I have BMD and previously just sort of done cardio and some light weights on a tabata timer, following exercises from a YouTube video for limited mobility workouts, but I'm a bit wary of weights, even though they were very light.

I am not in wheelchair so I am able to stand workout, but of course bending and general hip exercises, and squats are pretty much out of the question because I'm simply unable. If anyone could let me know what sort of exercises they do, that would be great, so I can look into possibly trying the same :)

Thanks!

I’m struggling with intense anxiety and envy, and it’s leading me to suicidal thoughts.. I don’t know what to do.. I need anyone to talk..

I have created a discord server

I am struggling with some undiagnosed issues right now and myopathies are on the table. 27 female. Just wanting to get a feeler for things. Thanks for the input.

What's up folks? I'm new to the group.

My father was just diagnosed with DM1 and they wanted me to test and I have come up as having it too. I am a 40 year old male and my doctor says that this could could explain everything. I spent a majority of the past year missing work due to being sick, when I was 18 I tore my rotator cuff for the first time, I had various injuries and sicknesses throughout my childhood and growing up. In 2015 I lost 170 pounds (I was almost 340 at the time) in about 3 months and went through Diabetic Ketoacidosis and spent 2 months in the hospital and came out and was type 1 diabetic, the first in my family. Since then I had carpal tunnel surgery on both hands, broken my feet/toes a couple times, had cataracts surgery that had complications that my doctor had seen 3 other times in his career, and have been having increasing mental issues, and again spent a majority of the past year sick.

My roommate and I joke that I am pregnant because I have morning sickness many mornings. Lately I've been having other body issues and more stuff.

Basically I am looking for information on what I am possibly in for. What can be expected? Stuff like that. My actual doctor appointment to talk about this isn't until the 4th and I'm just too anxious and nervous and everything to just sit here waiting to get answers.

I'm nervous and slightly panicky.

Thank you for your time and assistance.

My husband was diagnosed when he was born. Has had ligament surgery on both ankles when he was 5 years old. He can’t move his arms past 90 degrees. His back is unable to bend. He is currently 31. Since we have been together (almost 2 years) his balance is becoming more and more unbalanced. Losing his leg strength randomly and will fall even when walking (legs just give out) Stairs are his kryptonite, as he says.

I am making this post to see if anyone has this type of MD and can recommend any therapies to try for retaining any strength he does and possibly trying to build any strength back?

I do know with MD, from talks with him and little research I’ve done, that muscle growth is limited or none at all. I do just want to help him as best as possible because we have 2 toddlers under 6 and it’s hard for him to keep up or find ways to play with them. His self confidence is here and there. He has turned to alcohol for pain management. Trying to find a specialist in our area or surrounding areas is rare. We’ve gotten referrals in, with no calls backs or responses.

Any and all advice is welcome.

for research, thanks

https://preview.redd.it/y4hu8dabrbfe1.png?width=247&format=png&auto=webp&s=bac1535305d1bda83a69b050613a7e8b24bf83c3

I'm looking for some recommendations or help. Has anyone come across dating sites that are positive towards people with BMD? It's likely a long shot but having tried so many apps and sites I find a lot come off as superficial. I'd like to be able to be open about it so people don't get surprised.

I suppose technically a Discord server would work but that's a whole other issue on its own

I'm 53 years old and just I received my diagnosis 2 days ago. This began about 2 years ago with a slight dent in my chest that continued to spread. Nobody believed me when I told them something was going on with my chest. MRI'S, Nerve impulse tests, etc... all looked good. Eventually I caused enough stink at my physicians office and had them send me to a muscular disease clinic. I also noticed my thigh muscles aren't what they used to be. Im 53 and have lead a sedentary lifestyle for a long time now so Im not thinking I should have rock solid thighs. My muscle neuro guy told me that my body is strong, arms , legs, feet, hands, etc.. still good control and strenght.

So here I am today trying to make sense of what is happening to me. Im reading some scary stuff about ending up in a wheel chair and losing control of my arms. I'm hoping someone with a similar story to mine can shed some light on this.

How do I exercise, resistance bands, free weights, calisthenics, cardio? Do i need 2 grams or protein per KG of body weight? Is creatine good to supplement with along with a good whey protein?

How do I keep the muscle I have left from dieing, or at least slowing it down a bit?

Thanks for reading my post

https://preview.redd.it/kit6r6c1b7fe1.jpg?width=2362&format=pjpg&auto=webp&s=c18680fced0e5f14b233e728676b8f91e95c3f0f

I just, yes just right now though about the idea of making discord server for people with MD of any kind, and for people of any age, so I wanted to ask is here anyone interested in joining the server when I make it, and anyone interested in helping making the server?

Hello All, How are you doing?

I'm 25 years old, and a Muscular Dystrophy patient(LGMD2B), from India. I wanted to share my vision with you all and hope you'll join me and help building it.

I'm looking for MD patients, I'm creating an online community on Instagram with an Instagram page which will act as a public page through which we can showcase each of our talents, experiences, opinions, and whatever you want to share in the form of writings, poems, stories, photos, videos, memes, in whatever way you want created by you. We all will be connected via WhatsApp or Instagram group(whichever works) where we all can share our work, ideas, plans, expectations, other visions and even discuss our problems and can get answers from those who might have had the same problem and solved.

If you want you can involve your parents, friends or whoever you want, to spread the word, build awareness and let people know about your talents, hardwork, life experiences because I know that with such medical conditions it's difficult to communicate with the outside world and our talents, work and life is left unnoticed by many and this is the aim of this campaign, i.e., to reach as many people as possible through our writings, photos, videos, etc., and let them know what each one of us is capable of and just because of our disabilities, we shouldn't be left out and be given a chance.

In order to make substantial changes and get the people's and the government's attention we'll have to work together and with the help of our campaign we'll reach as many people as possible and get them to provide us help and oppurtunities to pursue our passions, careers and goals.

We all can work together on creating this wonderful experience, building an awareness campaign, building a movement, building something that'll help each one of us and the ones that'll come after us.

Hi, I'm looking for Muscular Dystrophy patients or friends, relatives who know such people living in Uttarakhand and if possible from Dehradun. Please do let me know.

CK 215U/I AST 57? He had problems rising head when he was younger, when I was holding him he always looked at one side and couldn't move his head much for long time, statarted crawling and sat at 11 months. Now he looks healthy, just started walking but has no problems standing up and even starts to go up the stairs with one hand holding the wall. Of course I'm most concerned about DMD, but from what I've read this levels aren't that high? Is it possible he is completely healthy? I'm freaking out .

Hello,

I just found out my son has elevated CK he has had it checked 4 times - first time it was Over 5000 second time it was over 2000 third time it was over 4000 and most recently it was 750. I should also mention he was not active before any of these blood tests for his CK were done nor was he sick. I am wondering if it common for fluctuations in someone with a MD? We are currently awaiting genetic test results but we live in Canada and the results take up to 2 months to get back. Just wondering if anyone in this group can shed some light on this for me, I am very uneasy. Thank you in advance.

My muscle spasms and aches are escalating. I’m on gabapentin and tizanidine. Is there anything else that helps ?

I need to replace my wheelchair. I've searched online but can't find anything. In the country where I live, there is very little information available. I would like to order one from Europe or the USA (it doesn’t really matter where from), as long as it meets quality standards and fits my needs.

Alright r/MuscularDystrophy, I'm not the usual poster around these parts, but I hope it's okay for me to post here anyway!

I'm 29 and have severe brittle bone disease. I'm 2 foot 9 inches and weigh between 60 and 70 pounds. I use a power wheelchair full time and need full assistance with transferring. I also need full assistance with most of my activities of daily living, though I can feed myself, brush my own teeth, etc. I just need them to be within reach as I have very limited range of motion in my arms.

I have been trying to move out of my parents' house for almost three years now with no success. While I do not have intensive medical needs, I am unable to leave the house by myself or get myself into my wheelchair in the case of an emergency.

I receive services through the home services program but am unable to receive more hours than what I currently receive. I have applied to multiple facilities within the supportive living program and was told I have too many needs to live there. I qualify for a skilled nursing level of care but most facilities have an age requirement (which, at 29, I don't meet). I have reached out to multiple government officials with little success, same goes for the media. I have Medicaid and Medicare as well as private insurance, but I do NOT have long-term care insurance. I do not have any kind of social worker or case manager but would be open to getting one.

I thought you lovely folks might have some suggestions of either a resource I've yet to explore, or even specific facilities you might know of that accept younger folks!

For me personally, my pulse is around 110-100 during the day, but it drops to 80-90 closer to bedtime. My oxygen saturation stays at 95.

I'm a 17 years old guy and my neurologist recommended this, he said it significantly helps with heart function and prevents heart failure so I'm just wondering if anyone here takes it as well

Has anyone on here talked to someone romantically that they thought was a 10/10 or really attractive but it failed because of their disability because it kinda happened to me and I want to hear other people’s stories

Idk but most of the time I'm alone. I study, do little bit of gaming and watch series. So that's a life I have. What about you?

I myself cope by gaming, and well being unserious about everything, what about y'all?

So, my girlfriend is pregnant and we found out she was a carrier for muscular dystrophy. We just got genetic testing back, and the baby is positive for mutations in exons 51-52. Does ANYONE out there have these same mutations and If so, how does it affect you? Are you asymptomatic? Are there treatments available for this specific mutation? We don't fully understand this, but we've met with a genetic counselor that just doesn't seem to be the most forthcoming with information. We're trying desperately to find out this baby's chances at a relatively pain free and enjoyable life. I don't mean to cause any offense in this post, and I'm sorry if anything was phrased poorly or unprofessionally. I understand that for those with muscular dystrophy, this could very well be a touchy topic. Please be considerate in your answers.. 🙏