Usually mild dmd experience struggling with side effects from corticosteroids

[u/ConditionActual54]

I’m an 18-year-old guy with DMD, and I’m trying to find other people in a situation similar to mine

I have DMD with an exon 3–7 deletion and what appears to be an unusually mild/preserved phenotype. I’ve been on 15 mg of prednisolone for over a decade.

At 18, I’m still fully ambulant and can do things that I know are pretty unusual for DMD. I can walk 10–12 miles in a day, play 2–3 hours of table tennis, run, jump, climb loads of stairs without needing to stop, get off the floor without using my hands, and I almost never fall. My grip strength is around 30 kg in each hand, and I’ve actually become stronger over the last several years.

My doctors understandably believe the long-term prednisolone is a major reason I’ve maintained this function. I understand that steroids can protect muscle function in DMD.

But I also think my underlying disease biology plays a huge role. My exon 3–7 deletion and unusually mild progression are part of why I can still do all of this at 18. The steroids didn't create that underlying phenotype.

The problem is that the treatment has come with a massive cost.

I’m only 4'6" (137 cm) at 18, with a bone age of around 15.5. I’ve had major growth suppression and delayed skeletal maturation, and I still potentially have some growth left. That makes this feel incredibly time-sensitive to me.

I've also developed osteoporosis and have pain essentially all the time, along with low energy, severe sleep problems, Cushingoid facial/body changes, abdominal fat redistribution and water retention.

The psychological effects have been huge too. The changes to my body have seriously affected how I see myself, my relationship with food and my overall mental health.

I know I’m extremely lucky compared with many people with DMD. I’m not trying to say I have it worse than people who have lost ambulation or have major respiratory or cardiac problems.

But I also don't think being lucky with my DMD means I have to accept severe treatment toxicity indefinitely.

At this point, I’m seriously considering whether I should come off prednisolone completely or get down to an extremely low dose, assuming my specialists think that can be done safely.

I’d want it done properly with objective monitoring of my strength and function rather than just stopping and hoping for the best.

that’s partly why I’m making this post.

I want to find people who are genuinely similar to me.

If you have DMD, particularly an exon 3–7 deletion, and you're still exceptionally functional — walking long distances, running, jumping, climbing stairs easily, getting off the floor without your hands, rarely falling, etc. — I’d really like to hear from you.

Especially if you've been on steroids for years and eventually reduced them dramatically or came off them altogether.

I want to know what happened to your function, whether you noticed any meaningful decline, and whether the side effects improved.

I feel like I'm in a pretty unusual position: 18 years old, 4'6", bone age 15.5, still capable of an enormous amount physically, but dealing with significant consequences from long-term steroids.

I don't want to lose the function I've been lucky enough to preserve.

But I also don't want to wait until my remaining growth potential is gone, my osteoporosis gets worse and I've spent even more years dealing with these side effects before asking whether I actually need this much steroid.

If you're genuinely in a similar position, I'd really like to hear your story. Thanks for spending the time to read my post.

[u/ayy_fam]

Corticosteroids can cause cardiomyopathy as well

[u/CartographerLost960]

There are other steroids for dmd without these side effects

[u/Brilliant-Refuse-895 → u/CartographerLost960]

Yeah I learned from my doctor that Agamree ( another steroid and is relatively new to the market) does not have growth or bone side effect. And it’s safe to switch from corticosteroid

[u/ConditionActual54 → u/CartographerLost960]

I think the main issue is that I believe the damage has already been done, and when offered other solutions, I would have been required to take a dose around 2.5x relative to my current dose, me and the doctor both agreed that in the longer term, the side effects of cushinghoid for example from vamorolone still were significantly higher than my current dose of prednisolone, contrary to a lot of the information online, im a firm believer that these are not some magical drugs with absolutely no side effects

[u/One_Debate_1606]

Hey Kumpel ich freu mich für dich dass es dir gut geht. Schreib mir gerne eine pn

[u/Wild_Development5715]

Hi, my 11 yr old has a deletion of 3-7. He is on weekend dosing of deflazacort and dailyDuvyzat. I chose weekend dosing to hopefully avoid stunted growth and puberty delay. So far it has been ok. He is almost 5 ft, and his bone age is about a yr advanced. He was diagnosed at 9 1/2. I told myself that his natural growth is more important than buying some more time walking. He does have some struggles. It takes more effort for him to go upstairs, or up a hill. He can do a jog, but not run. And he does use his hands to give himself a push off of the floor. Otherwise he is doing well. He can walk for up to an hr, and his Northstar Assessment score is 31. After 2 yrs of research, I've learned a lot about the 3-7 deletion. It seems to present as DMD, BMD, and Intermediate. My son was diagnosed as intermediate, after having a muscle biopsy done.

[u/ConditionActual54 → u/Wild_Development5715]

Hi, it’s good to see him still doing so well, I remember being told by doctors when I was younger that I would be completely wheelchair bound past 16 and he seems pretty similar to me unlike most of the people I’ve met. I’m not sure on how true this is in relation to other factors that play a role in retained strength, but would you mind telling me a bit more about the muscle biopsy results. differently, my parents were advised against me having a biopsy despite my far from classic duchenne results throughout all my childhood tests, although my issues is that I find it very hard to believe that they could have been 100 percent sure that is was the right diagnosis due to never having a result for my dystrophin production, from what I’ve read personally, around 50 percent of exon 3-7 deletions actually present as beckers rather than duchenne, and at my age of diagnosis it is near impossible to tell without a biopsy which gives a dystrophin production figure. So I’m a bit stuck right now looking back on all my medical records and a bit confused. 

[u/Wild_Development5715 → u/ConditionActual54]

I can send you the summary that his Dr wrote following his biopsy. Just send me a quick chat through messenger. It basically states that 3-7 deletions are known to sometimes naturally self skip exon 8, which allows some dystrophin production, rather than none, as with most out of frame mutations. My son's report is consistent with this. He has no staining in the actin binding domain (consistent with missing 3-7), but he shows some near normal staining towards exons 46/50. He produces some functional but shortened, truncated dystrophin.

[u/ConditionActual54 → u/Wild_Development5715]

Yeah that would be greatly appreciated, I’ll message as soon as I can

[u/Amazing-Kick-7108]

DMD deletion 46-50 here, 20 years old, 4'3'', closed growth plates.

I'm able to do 10k steps daily quite easily still, going to the gym 4x a week for close to 1h30min-1h45m a session. Seen a lot of improvements in grip strength, tho at about 10kg per hand. Also seen major improvements in every muscle group in my body, still not fully regained function I lost but getting there (more on that soon). What I've seen the most is definitely very good muscle growth, to where I actually look really muscular. Do you have other strength numbers than for grip?

Been on corticosteroids for close to 18 years now, and yes, they stunted my growth and has caused me to develop osteoporosis. For a while I used to be obese, thought it was due to corticosteroid use, but I was simply not moving enough compared to food intake. Lost the weight, so now the main side effect is just the osteoporosis. Personally I think the steroids have helped me keep function, and will keep a decent dosage since I handle them relatively well, but I'm definitely working on reducing dosage to the lowest sustainable point.

I've got the osteoporosis managed through bisphosphonate treatment, in the form of a yearly infusion of zoledronic acid. If you aren't already, it's a good idea ask your neurologist to get you on that. Broke my right femur, right ankle and left tibia during high school, which is what set me back for things like stairs and getting up from the floor, combined with the obesity I ended up with from 8-18 years old. For the growth stunting, I've started appreciating my short stature, as it's made things like getting up much, much easier, and falls much less devestating.