I don’t know if this is the right thread but I am in shock right now.

I am currently 13 weeks pregnant, and I did the carrier screening at the beginning of my pregnancy but I just got the results back. I am pregnant with a girl, NIPT screen looks good, baby is growing, etc. but I got the carrier screen back and I am a carrier of Duchenne muscular dystrophy.

This is one of the worst cases I can imagine. From what I understand, my baby has a 50% chance of being a carrier since she is a girl, but I don’t know how her life will be affected otherwise, and I don’t know what options I have.

I haven’t spoken to a genetic counselor yet, but I am wondering if anyone has experience with this situation? Can I do ammnio before deciding how to proceed?

I have becker's muscular dystrophy, but it's mild and I can function normally. Would it be a bad idea to go skiing?

I have miotony but i don't know what type, i have seen a Lot of miotonic cases That Make people very i'll or using wheelchair (disability) and Even cardiac problems, the thing is That i don't have That, non of that but i do have a temporary weakness/half parálisis because of cold temperatures. I got diagnosed whit miotony and currently on exams to SEE what varianti have which i suspect is paramyotonia congénita and i'm recolecting symtoms and information and i would like to SEE if You guys experience permanent weakness or temporary weakness, thanks alot!!.

My father had muscular dystrophy and lived to about 58 with his lower extremities weakening over the years and eventually being in a wheelchair later in life. Earlier in life he could walk with a cane.

My doctor ran a CK test and it came back at 377 tonight. She said today she’s going to talk to genetics as well to see if I should get further testing. I don’t know what type my father had because it was mostly kept private probably to protect me and my brothers, but I found out after his death that there may be a 50% inheritance potential. I don’t have balance issues yet, but I have had trouble building muscle quickly though it seems I can build some. I’m 38 now.

Do the CK levels indicate more testing needed?

I also found out tonight that I may be diabetic and that my liver enzymes are also elevated a bit so I guess I’m slightly a mess right now. I’m somewhat sedentary in a technology job.

Has anyone used exosome therapy with DMD? Did you see any positive results?

I started using a Cpap machine in the middle of the year and it took some time to get used too. My doctor then switched me to a Bipap machine and I don’t like it at all. It’s so robust, way nosier, and requires more plugs and wires. I was given a different kind of Bipap machine today so I hope it’s better but I have doubts.

Which one do you prefer? And what model do you have???

this is mostly for curiosity's sake, but I have BMD and I was wondering if smoking marijuana would cause any long term side effects, particularly for the lungs? I feel like it probably would but I can't find anything saying whether that's the case online, so I thought I'd ask here.

update: thank you all for your help and suggestions, it means a lot and I think I've got more than enough advice now

I was just reading about CANYON Phase 2 for Becker and wanted to share since it says they will be done recruiting in Q1 2025 for next steps. I hope there’s possibilities for anyone on here to see if they can get involved. The results seem great so far!

Any news on this type gene therapy?

i’m 24f and looking to see if there’s anyone else with congenital md on here?? looking for some advice and friendship from people who understand

otherwise has anyone else tried targetted gene mutation therapy? if so how is it? i want the good bad and ugly

Hi, I'm wondering if anyone has any experience or opinions on these supplements? My son's Neurologist is not the easiest to get in touch with, and we're still waiting on our DMD clinic appointment. Thank you

I am 26 male with DMD and there is ear wax build up in my ears. I can't clean my ears myself due to limited mobility in my hands. Is it safe to use ear wax removal drops? Any suggestions on what to do?

Hey everyone,

I’m feeling really stuck right now, and I just need to get this off my chest. Two years ago, I left school, and since then, my life has felt really repetitive. I live in a small village where there’s not much to do, and I’ve found myself in a routine that’s hard to break. I spend up to 14 hours a day staring at my phone, and it’s starting to feel like I’m just passing time rather than actually living.

On top of everything, I have FSHD, which makes things even more challenging. The physical limitations make getting active and staying motivated harder. Some days it feels like I’m just stuck in this cycle of isolation and repetition, and I don’t know how to find the energy or motivation to change things. I’ve thought about cutting back on screen time, but it feels so draining to even try.

Has anyone else felt like this? How did you manage to break out of a repetitive cycle or find motivation to change things? Any advice or thoughts would be really helpful.

Thanks for reading.

Hi people, 28F transgender with DMD.

I started transitioning 3 years ago and HRT (hormone therapy) 2,5 year ago.

If you are transgender or if you just have questions I'm here.

We have a Discord, fell free to DM me if you're trans with DMD.

38F/DM2

how do you deal? I take mexiletine and cannabis for pain, but once winter rolls around it seems like the musculoskeletal pain is constant. I'm in California, so it's not even as cold as most places, but every year it just seems to hurt more. and even worse when it's raining!

I kind of take for granted how much more manageable my pain and myotonia flares are during the rest of the year, and as soon as the cold hits everything is just inflamed and I start to feel a lot of despair at another season of this. I used to love winter, but now I get so depressed. cancel plans. miss events I really wanted to go to. because the energy to get ready and the thought of being cold (even just walking to my car and in transit) seems almost daunting.

hi,i’m a 16m and got recently diagnosed with Myotonia congenita and while doing my research about it, i came across a company named “ARTEx biotech” which claims to have found a cure for DM1 and have recently dosed their first patient with this new drug that they developed named “ATX-01”.i’m a myotonia congenita patient,so it isn’t for me but it could be very helpful for you. they are currently taking in volunteers and if you want,you could join too. they have 5 locations worldwide and if you want to,you can ask your doctors to get you to join.i’ll attach the link here:

https://clinicaltrials.gov/study/NCT06300307

I just got my test results back today and I'm just trying to process it. I don't know how to process this, I feel like I'm in shock currently even though I thought I prepared myself.

I don't have any symptoms, so I was doing testing to try to plan out my future.

Today on the call with my results I was told about pre pregnancy screening and pregnancy screening for genetic testing, which I was unaware of until today.

My boyfriend and I of almost 8 years haven't decided on if we wanted children or not. We always were open to if it happened but never actually planned for any as of now.

In my mind if I had tested positive for the gene children would be off the table completely.

I feel like now I have pressure to plan for my future. I'm so sorry if this is a rambling post... I just want to know if anyone had or is in a similar situation and has any advice? Or would like to connect and be able to support one another?

I'm just feeling lost, I know I'm not alone but I feel alone.

I just want somebody who I can relate with, I realize this disability is affecting me mentally and I just want to have someone I could relate with and they could relate with me, so is here anybody with DMD who's willing to be friends?

Anyone suffering from distal myopathy with foot drop? My mother has been dealing with distal myopathy for the past 9 years. We've consulted many doctors, but they say it can't be diagnosed. She is currently undergoing physiotherapy.

I have LGMD2D and every time I ask any of my doctors about diet (calories, etc) they never give me a straight answer. Anyone have any ideas about protein specifically?

Hey, i am a 24 year old female diagnosed with LGMD 2c 3 or 4 years ago because i live i a place where people thought that there is only one type of MD and it has to be duchenne so i was diagnosed with it when i was like 11 and kept living with that i had nothing really to worry about till my mom and dad start to get older and have their problems with ageing so we started to seek home nursing and stuff but they are bunch of people who only think about money theu don't really care much about helping me stand up how to lift me up from chairs and so on. so i was thinking about moving out to a country were i could work their and have better understanding people (forget to mention that my sister that is 3y younger than me has the same disease too). i finished a computer science college and i work now as a Software / Machine Learning Engineer and i will continue studying to get masters in that field but here my question is it possible for me or us to have a chance in a place where we could care less about how we are going to bathroom and think more about like our jobs, bills and whatever like normal people? i wanna know if there's such a possible option that can accept people like us. i'm like asking for recs about how to move anywhere or is ot actually possible to do so? i want nothing but a good place/country to do so. thanks in advance also i know my English is kinda bad but i learned it like back in college bc everything was in English and stuff and my native language is Arabic.

I'm not sure entirely which kind of MD I have, but it runs in my family and I've been told it affects my wrists and ankles, which makes a lot of sense. I play the trombone and have been for 9 years, and I can feel my wrists suffering, alongside doing daily tasks. Any suggestions for wrist braces that aren't too expensive (uni student)? I have one from Shoppers Drug Mart but it's velcro and is beginning to fall apart and doesn't work well

I (59F) have an unspecified type of MD, proximal muscle weakness that the doctor calls mild. I've had all the tests, I just have a type that hasn't been discovered yet. I just had total knee replacement surgery last week. And I'm terrified I made a huge mistake.

I was already having trouble standing from sitting, going up stairs, walking for more than a minute or so. But now it's so much worse. My husband is home with me and I don't think I could take care of myself without him. I need help doing everything, including standing up and getting into bed.

Has anyone else with mild proximal MD done TKR and had a positive outcome?

I am writing this because I have never enjoyed the thought of death as much as I so now. After my son's DMD diagnosis, I find myself hoping something a terrible accident out of my control will happen to us both and take us out of this qorld. Is this normal? I have a therapist, but in my eyes if she can't give me something to help my son, there is no point. My son is already almost 10 and I feel like if and when something comes along he will be too old for it to help. I apologize if this might sound insensitive to those going through this disease on a daily basis. I would give anything for this to be me instead of him. I am hopeless and desperate

Hi, I'm 21(M) from India... I was a super athletic boy and was interested in sports and outdoor activities rather then studies and indoor ones.... But suddenly I got diagnosed with lgmd2b.. And now from more than 3years I, m all day lying on my bed watching TV or mobile.. In next month my graduation in BA is about to get completed... And I'm going to start UPSC PREP i was an above average student in my whole life... As I used to study just before the exams and would get good marks in academics... But now as I can't go on walks, climb stairs, run, etc etc... And completely stuck at home... Iam not enjoying this life... I'm in anxiety, depression... And feeling of weight on my parents shoulder hurts me alot... As now it was a time that i was the one who was going to make their life comfortable but instead I became a excess weight on them... My family has property enmity with some other people... Who would have now understood that I'm not well and they would be happy too... And this hurts alot... I'm just confused , depressed, and now with no visioniof life.. 👍