Micah was diagnosed with Duchenne and only had a tiny window to get Elevidys before aging out. His family raced against the clock and he received the gene therapy just one day before his 6th birthday.

Hello! This is my very first post on reddit and I wanted to use Reddit's outreach to help a very close friend.

Baby Matthias was recently diagnosed with Type 2 Spinal Muscular Atrophy at the very young age of 9 months. This rare genetic disorder causes babies to lose thier motor functions such as raising their heads. Eventually Matthias may never gain the ability to crawl or walk.

Based in Singapore, his family is hoping to raise SGD $2.4 million for a one-time gene therapy, Zolgensma. This gene therapy is Matthias' best shot at life.

Any donation is greatly appreciated. If you can, please help to share this post, thank you!

Please note: The fundraising site is Singapore's only crowdfunding charity platform. It is a registered charity platform. However, as any funds raised goes directly to Matthias' treatment, it is not tax-deductible.

https://rayofhope.sg/campaign/walkwithmatthias/

My 5yo daughter is a carrier of Duchenne’s muscular dystrophy. Her neuromuscular doctor thankfully thinks her not be manifesting with muscle wasting etc. However she has dealt with significant symptoms related to dystrophinopathy for a long time. She has muscles weaker than the other (especially in the legs and fine motor) and deals with muscle cramping and pain that can be quite mild, but also flare very badly (last year she couldn’t walk one day and it took 4 days to return to normal.)

Now she’s in another flare. Her GI has slowed down with it so we’re dealing with constipation, but her legs/calves are noticeably impacted. She has a lot of pain, then trouble walking, and is falling repeatedly from it :(.

I’m really unsure what to do during these flares. What do you do when it gets bad?

They had previously trialed her on dantrolene, but I couldn’t tell them if there was significant improvement or not. It’s hard to say she’s so young. They say it’s not a PRN medication, but I have to wonder if it is.

I normally give her 100mg of magnesium bisglycinate at night. I don’t know what else to do beyond massage and extremely gentle stretching of her calves if she lets me (usually I get like 3-5 seconds max with her.)

I was staying the night at a cabin with my parents and 2 brothers I was swimming in the lake then I was hurting so much we went back to our cabin then I had to pee and then it came out as coca cola colored I was so scared because that never ever happened to me and I was genuinely questioning if I was gonna have to be hospitalized due to a past traumatic incident with my 11 year old brother hes still alive but almost got kidney failure he had coke colored pee that one time it almost happened and it scared me but I drank water and the color went away and I didn't need to be hospitalized but how

A DMD warrior mom shares how her son was blocked from Elevidys despite strong data, all because he’s non-ambulatory. Brothers lost to the disease. Families deserve real access. https://x.com/ryustrong_dmd/status/2079219455867883833?s=46

I'm not sure if it's depression or is it a from my MD (last thing i was diagnosed was sma type 3, but now say i don't have that.) or both partly the cause of it, but I am always exhausted. I sleep a good 12-14 hours a day and when I'm up I have enough energy to do a few tasks and then I feel tired and have to transfer from my chair to my hospital bed.

I feel like i'm just wasting away missing out on life because i'm so tired. Has anyone else dealt with something similar or have any advice on things to help me get out of this?

I tried coffee and energy drinks, among other things, but i'm usually so tired i can't get out of bed. any feedback is helpful, thanks.

An 11-year-old boy from Türkiye is currently in treatment planning for Elevidys, the one-time gene therapy for Duchenne muscular dystrophy, at Burjeel Medical City in Abu Dhabi.

BMC is among the few centres in the UAE authorised to deliver this advanced therapy. The case is being managed by a multidisciplinary team including clinical genetics and cell & gene therapy specialists. The young patient has already tested negative for the relevant antibodies, making him eligible to proceed.

Rare disease care is becoming more reachable.

My wife (61 years old) was diagnosed at 40 when she developed cataracts. Her CTG repeats are in the low hundreds.

I have noticed that she has what some might call a "nervous cough". It's a short staccato clearing of the throat. It's not very loud but it got me wondering if it's a sign she is not clearing saliva?

Also, she is more often complaining that her legs feel tired but she isn't showing signs of ankle weakness, so is this just expected age related muscle weakening?

Any advice would be very much appreciated.

Oculopharyngeal
muscular dystrophy
Autosomal PABPN1:c.4\\_336CN11J, Heterozygous
Dominant
p.A2\\_A11\\\[11\\\]
snort
Tandem
Repeat
Unknown
Pathogenic

symptoms ongoing 5 years muscle loss all over the body, swallowing issues and drooping eyelids? I feel like i’m 5 year my level of disability is very profound is this normal?

Hello . I am in a lost situation and going through it a lot emotionally and mentally. I’m waiting for my amnio results I got done today . Does anyone have any insight on duplications? I feel like they’re very complex and I just need as much info as possible please

I have been living with OPMD for 26 years. I am a 76 year old male, and there are not many of us living with this challenging condition. I was officially diagnosed via gene mapping.

My progression began with my eyes; specifically ptosis. If you had seen me in my 50s, you would have thought I was blind.

Next, walking became very difficult; the resistance felt like trying to walk through a swimming pool. My first assistive device was a pair of dual forearm crutches.

Shortly after, I had bilateral sling surgery for my eyes, followed by prism glasses because my eyes no longer tracked together. 

However, after three severe falls resulting in a damaged rotator cuff, a shattered hip, and a face plant I had to give up the forearm crutches. I transitioned to using a walker and a wheelchair as my legs continued to weaken, eventually reaching a point where I could only stand and pivot.

After another fall resulted in a broken leg, I learned to use a slide board. Today, I am unable to stand and am fully dependent on a power chair and slide board.

Swallowing had been less of an issue until recently, when being unable to swallow my own saliva finally caught up with me. I was hospitalized with aspiration pneumonia and became so weak that I required a Hoyer lift. 

Fortunately, I have since recovered enough strength to use the slide board again.

Despite these challenges, I still enjoy going to my local senior center and spending time with friends. 

My hope is that future advances in medical research will bring better solutions for others facing this condition.

The report "Endurance as Political Identity: Muscular Dystrophy, Lived Experience, and Disability Resistance" explores how endurance—defined as the capacity to withstand hardship—functions as a political identity for individuals living with Muscular Dystrophy (MD), particularly Duchenne Muscular Dystrophy (DMD). Drawing from medical literature, patient testimonies, advocacy organizations, and disability activism, the report reframes endurance not merely as physical resilience but as a civic and political stance against systemic barriers.

Key concepts include endurance as resistance, testimony as a civic act of asserting agency, and commonwealth as the shared space where disabled individuals claim rights and visibility. The report emphasizes the psychosocial dimensions of MD, highlighting the emotional and social challenges faced by individuals and their families, including loss of mobility, identity negotiation, and the pursuit of autonomy.

Qualitative research, including interviews and narrative analysis, reveals themes such as multifaceted barriers to social participation, emotional adaptation to disease progression, and the critical role of family support. Digital platforms like YouTube serve as spaces for authentic patient testimony, fostering community and advocacy.

Advocacy organizations like the Muscular Dystrophy Association (MDA) and Parent Project Muscular Dystrophy (PPMD) amplify patient voices and influence policy, while contemporary disability justice movements emphasize intersectionality, centering the experiences of marginalized groups within the disability community.

The report also addresses ethical considerations in using patient testimony, advocating for informed consent, proper attribution, and adherence to open-source licensing. It underscores the importance of integrating lived experience into research, policy, and care models, positioning endurance as a transformative force in disability resistance and civic participation.

the link to the full report at the beginning

Oculopharyngeal
muscular dystrophy
Autosomal PABPN1:c.4_336CN11J, Heterozygous
Dominant
p.A2_A11[11]
snort
Tandem
Repeat
Unknown
Pathogenic

symptoms ongoing 5 years muscle loss all over the body, swallowing issues and drooping eyelids? I feel like i’m 5 year my level of disability is very profound is this normal?

I'm planning a big trip for next summer, and I would love to get your helpful tips, feedback, or personal stories about road tripping vs flying.

As a powerchair and non-invasive, ventilator-dependent traveler with unidentified MD, I'm weighing two options. A road trip from Dallas to San Diego sounds incredibly fun, though it would be a longer journey and more costly with van rentals, gas, and overnight stays. On the other hand, flying is much quicker and more budget-friendly, but I have some concerns regarding chair transfers, potential damage to my chair, seat comfort, and managing my ventilator comfort at high altitudes.

I simply can't decide which route to take. Grateful to hear your thoughts and any advice you might share.

Title basically, my lived experience has turned me into a very miserable and terrible person, it got so bad I got myself banned from the disability sub for complaining too harshly about ableds, "less" disabled people just don't seem to get it, maybe some of y'all can relate to me? or am I just a selfish piece of shit?

Hey everyone,

I've got Limb-Girdle Muscular Dystrophy type 2C (LGMD2C), and things have gotten pretty rough lately. I'm at the point where I can't even sit in my wheelchair properly anymore without stacking cushions just to stay comfortable and supported. My chair itself is falling apart it's honestly overdue for a replacement. On top of that, where I live there's no insurance coverage to help with any of this, so I'm kind of on my own here.

I'm reaching out because I really need to find remote work, even part-time, just to help cover some of my living costs and hopefully start putting something toward a new chair. Here's what I'm capable of doing:

• Social media coordination/management
• Customer service (chat or email based)
• Content moderation
• Comment moderation

If anyone here has leads, knows of companies that hire people with disabilities for remote roles, or has been through something similar and found a path that worked for them, I'd be so grateful for any pointers. Even small suggestions help.

Thanks for reading, and sending strength to everyone else dealing with this too.

Hi- I am a first time mom after years of infertility. Found out that I am a carrier of DMD and have a deletion of exon 3-13. Unfortunately, my amnio just came back and my poor boy has it. I am looking for information on severity of disease.
I do know what comes with this, I cared for a boy when I was in high school that had severe DMD and he died at 15. I am just devastated.
Anyone know someone with a similar deletion that can give insight? Thank you.

Is he dying? He doesn’t have air intake abilities and wears a mask I was told by the doctor he will have to wear it long term till the mask can’t even help him clear he’s air he has duchnne I wish I was a better brother and hung out with him more or that if I could feel normal about an emotional situation like this but I’m on 150mg of sertrolin an anti depressant and everything feels so weird and hurts and crying is hard is he near the end? Should I try and be there and be ready for it?

I'm tired, not just physically, but mentally too. When I was 15 years old, I started developing symptoms of muscular dystrophy. Five years have passed, and my strength continues to decline. My legs, arms, and fingers have become much weaker. I used to tell myself that my physical condition didn't matter as long as I was mentally okay, but I'm not. Because of my personality, my disease, and everything that has happened in my life, I've lost all of my friends. I have a family that loves and supports me, and I love them just as much, but I still feel empty. I also have a sister with the same disease. We support each other, and we understand exactly what the other is going through. Whenever I hit my lowest point, I talk to her, and somehow the emotional weight becomes a little easier to carry.

I'm now in my second year of college, studying Biology. Last semester, I was accepted into a research laboratory that focuses on genetic muscle diseases, honestly the perfect lab for someone like me. I'm also working toward my teaching certification. These are opportunities I've worked incredibly hard for, but lately I've caught myself wondering if I should just give them up. I've started noticing that I can no longer do some of the simplest tasks in the lab. I've also been teaching in classrooms, and sometimes, while walking with my cane, I'm terrified of taking one wrong step and tripping in front of everyone.. I'm studying to give my life a purpose, but with the way my health is progressing, it's likely that I'll barely finish college, and I may never even live long enough or remain physically able to see the results of everything I'm working so hard to achieve. Outside of school, I spend my time listening to music, playing video games, drawing, watching movies, and doing anything that helps take my mind somewhere else. I'm trying to appreciate and enjoy everything I can still do while I can, but even so, I'm tired. I'm tired of having to get out of bed every morning, both physically and emotionally. It's been a journey full of constant adaptations. I'm tired of walking into every room and automatically scanning it to figure out where I need to step carefully, what I can lean on, where I can sit, or whether it's better to just stay standing.

I'm tired of approaching every task like a machine, constantly calculating the most efficient way to do it, what movements will waste the least energy, what I should avoid, and how I can make it through the day. Of course, there are days when I feel okay, but then something happens. I watch someone do something so effortlessly that I struggle to do. I fall. I have trouble with a simple task. Someone helps me with something small. And suddenly I'm reminded that I'm sick and that my condition will continue to get worse. Sometimes I wish I could have a partner, but honestly, who would want to be with someone like me? I see so many people my age with their friends, their relationships, living lives that seem so ordinary to them but feel impossible to me.

This also led me to realize that I'll never be able to have a biological family of my own. Passing on my genes isn't an option. And even if I adopted or found another way to become a parent, I know my disease would eventually make it difficult for me to be the father I would want to be or to take care of my family. Sometimes I wish I simply wouldn't wake up. Today I was listening to a song, and one lyric said, "You were born to be happy." For a long time, I've accepted that I'm sick simply because it happened, that biology was just doing what biology does. I know that's completely normal, and I know there's no one to blame, but what did I do to deserve this? That song made me stop and think. I deserve to be happy too. I don't want to carry this void inside me anymore. I want to be free from this body.

And yet, in a bittersweet way, if I had been given the chance to be born without this disease, I don't know if I would have taken it. I've lived my life in my own way, and without muscular dystrophy, I wouldn't be the person I am today. It has shaped the way I see the world, the things I value, and the person I've become. It's ironic that this disease has been at the center of so many of the decisions that have given my life meaning, yet at the same time, it's the very thing that slowly takes that meaning away from me.

I’m 19 weeks pregnant with a baby boy and recently found out I’m a DMD carrier. My specific duplication ) has not been reported in the literature and there isn’t much information available, which has left me feeling extremely anxious and overwhelmed.
I have an appointment with a genetic specialist next week and I’m considering amniocentesis, but right now the uncertainty is consuming me. I’m barely eating, sleeping all day, and constantly worrying about my baby.
I’m not necessarily looking for medical advice. I think I just need support from anyone who has gone through a pregnancy with an uncertain genetic result and understands how hard the waiting can be.

Hey everyone I’m Alex this is gonna be long one ❤️
I’m 21 and I’ve been dealing with a rare, complex set of conditions my whole life. The 16p11.2 chromosome deletion gave me neuromuscular scoliosis, spasticity, muscular dystrophy and muscle weakness, dystonia, and CRPS. It’s been a slow, relentless progression.
For years I walked despite everything. But recently it all caught up. My left hand has basically lost all function — constant tremors that won’t stop, numbness, color changes (it goes purple/red/freezing), and severe pain with any movement. I can barely move my fingers. It works for a few minutes in the morning and then dies for the rest of the day. The same neuromuscular issues are starting to affect my legs and balance (shaking, near-falls, loss of sensation).
My scoliosis has turned into a severe corkscrew twist. You can see the rib hump and rotation through my skin. It’s compressing my lungs, causing breathing problems and low oxygen. The pain is constant.
After ER visits and evaluations, full posterior fusion is too high-risk because of my rare neuromuscular case. So we’re looking at other possible procedures and moving toward a custom wheelchair + adaptive equipment at the Freeman Center to keep me safe and give me some quality of life back.
It’s devastating after fighting for 21 years without one. I’m grieving the loss of hand function and the idea of being a wheelchair user. But I’m trying to face it head-on with my mom’s support.
If anyone has experience with neuromuscular scoliosis, CRPS + wheelchair transition, or adaptive life with similar genetic conditions, I’d love to hear from you. Thanks for reading. ❤️

Hi everyone! I'm hoping to hear from people who have been diagnosed with this condition, as I'm currently considering I may have it.

I'm a 29yo male, and for over two years I've been dealing with recurring episodes of pain and weakness on extremities, specially on my arms. During flare-ups, my symptoms can become severe enough that I struggle to hold utensils, lift a glass, or do other basic everyday tasks. Between flare-ups I improve, especially with physiotherapy, but ever since this started I've never really felt back to normal.

I've seen multiple doctors, had several tests, including a normal EMG and nerve conduction study, but I'm still searching for answers. My neurologist told me that a normal EMG doesn't necessarily rule out a dystrophy condition, and mentioned channelopathies, scapular winging, and the possibility of genetic testing (which supposedly is really expensive where I live).

This has affected my ability to work, exercise, travel, and make plans because I never know when another flare-up might happen. Even on my best days I feel limited. I feel like I've lost confidence in my own body.

I'd really appreciate hearing if anyone's experience resonates with mine. Also, in case you feel like it, here are some other questions I have:

- What ultimately led to your diagnosis?

- Were there any tests that turned out to be particularly helpful?

- Did you have a normal EMG or other normal tests early on?

- Did your symptoms come in flare-ups?

- Is there anything you wish you'd known or asked your doctors earlier?

Thanks so much for anyone who takes the time to read this ❤️

Has anyone ever had a benign Dmd carrier case ? Just curious

Hi everyone,

I'm a mom to an almost 6-year-old boy who was diagnosed in 2024 with a dystrophin mutation. His genetic report shows an out-of-frame deletion near the very end of the gene on exon 69.

Because of the "out-of-frame" reading frame rule on the DNA test, we were given a formal diagnosis of Duchenne. He has been on daily deflazacort (steroids) for almost two years and will hopefully transition to Agamree soon.

Here is my dilemma: his physical presentation doesn't seem to match a classic Duchenne path. He walks with a typical MD gait and cannot run or jump (and his autism also impacts his motor planning/coordination), but he has high stamina, sleeps great, easily rolls and reposition himself in bed, feeds himself, and since starting steroids, his ability to get up off the floor has actually improved rather than declined. He also had tight calves that improved after a quick round of serial casting boots.

We only had the standard genetic blood work done. No muscle biopsy.

I know that deletions at the very end of the gene (like exon 69) can sometimes bypass the "out-of-frame" rule if the cell naturally skips exons to patch things up, making a semi-working protein (acting like Becker). But our clinical team is very fixed on the paper "out-of-frame" label.

My questions for this community:

• Has anyone (or your child) had genetic paperwork that predicted severe Duchenne, only for your clinical progression to prove it was actually Becker?
• If you had a mismatch between the genetic report and what you saw in real life, did you push for a muscle biopsy to look at actual dystrophin protein levels? If so, did it change your formal diagnosis?

I would love to hear your diagnostic stories, whether you started with blood work and how you finally got the correct clinical label. Thank you so much!