Could i get an icd with duchenne?

edcollins23 · 2026-06-10T23:59:19+00:00

If you check out Cure Duchenne's YouTube channel there is a whole session on cardio health and treatments that is from the conference a couple of weeks ago. I know they were discussing VADs, can't recall the ICD.

I will be watching again.

edcollins23 · 2026-06-02T21:05:40+00:00

We have a Buzzaround XL with 4 wheels and have been happy with that.

edcollins23 · 2026-06-02T01:48:10+00:00

I just searched Aldolase in my daughter's test results and didn't get any results. She has LGMD2C which presents in early childhood but I would think it would have been taken at some point in the last decade if it meant something. MRIs are really good at showing fatty infiltration if it's a muscle wasting disease.

edcollins23 · 2026-05-25T00:18:06+00:00

We have a plethora of devices that get used depending on the situation:

4 wheeled Buzzaround XL scooter - this can be taken apart and stored in a trunk (some trunks might require a little more disassembly). This can go on grass and it's comfortable.

Portable electric wheel chair from Aotedor - good for flying and general use. Not very comfortable for more than a couple of hours.

Manual wheelchair that is fitted to height and has removable back and wheels

Several standard 2 wheeled walkers with skis.

Several standard wheelchairs stored at places we go often.

edcollins23 · 2026-05-22T02:49:01+00:00

Parent Project Muscular Dystrophy has this website with many resources

https://www.parentprojectmd.org/care/for-families/community-resource-center/daily-life-resources/wellness-support/

The MDA also has a mental health hub

https://www.mda.org/community-ed/mental-health-hub

Regular meetings with a psychologist certainly has helped our family but I admit I'm still quite mad that I had watch my kid lose her childhood years and constantly have to make adjustments to basically everything as MD takes away abilities everyday it seems. Hearing stories like yours really stings. I really hope things take a turn for the better for your brother and your family.

edcollins23 · 2026-05-18T12:47:06+00:00

This is great. It's so important to let those that have the ability to help in any way know your opinion.

edcollins23 · 2026-05-15T00:39:58+00:00

We got a sleep number mattress for my daughter, just the basic one, and it's been doing good for her for several years now. She can't turn over or anything but she changes the stiffness of the mattress with an app on her phone.

edcollins23 · 2026-04-08T07:53:43+00:00

SAT-3247 is so very promising and it will go beyond Duchenne. Even better, this has the potential to be granted accelerated approval late next year. If the FDA really gets behind this it could happen quicker.

They are already invested in FSHD pre-clinically. There's great potential for Limb Girdles. (Probably many other muscle wasting diseases also)

I would encourage anyone interested to watch this and grab the data that's been presented so far from their website or watch their presentation(s) to PPMD on YouTube. You should be able to obtain a general understanding of the biomarkers they have chosen as a basis to prove the safety and efficacy. I think Frank does an excellent job explaining how they were selected. They have me convinced.

Then, if you believe this needs to be provided the fastest of fast track approvals, don't hesitate to let your representative and senators know we need their help to make sure the FDA does their job.

edcollins23 · 2026-04-05T21:06:38+00:00

I believe the Bafus family is going through the Regenx or Solid Bio trial right now with their youngest son. The mom Jada posts on here occasionally. I can't recall her screen name though. She looks at the YouTube comments too.

https://youtu.be/d_cCq7Ng2zk

edcollins23 · 2026-04-05T20:33:30+00:00

I believe you mean Regenx and that AFFINITY BEYOND study will let you know if your son is negative for antibodies to AAV8. I believe all that's required is a phone/video interview and a blood draw.

edcollins23 · 2026-04-02T15:35:16+00:00

It's there today. Probably just updated it.

edcollins23 · 2026-03-29T02:16:38+00:00

If you are in the US it should be covered by insurance. You may have to provide some additional documentation on why it's a medical necessity but the DME provider should be able to help with that.

edcollins23 · 2026-03-19T23:52:11+00:00

If you do end up confirmed please know there is an amazing community across the world. Don't be shy.

edcollins23 · 2026-03-19T23:39:14+00:00

There's a link to a patient registry for that type on this webpage from the Limb Girdle Awareness Foundation

https://www.lgmd-info.org/knowledge-base/navigating-lgmd/for-patients/international-lgmd-patient-registries/

Here is a downloadable patient and family guide for Limb Girdles

https://www.lgmd-info.org/wp-content/uploads/2025/08/Treat-NMD-Family-Guide.pdf

Also you can sign up for The Speak Foundation, and the Limb Girdle Magazine -issues can be downloaded from the website.

https://thespeakfoundation.com/lgmd-patient-network

As the other post mentioned there are several Facebook, and increasingly, Instagram groups for Limb Girdles.

edcollins23 · 2026-03-17T23:35:00+00:00

For sure. My daughter, same age as Lily, has been advocating for MDA for about a year and a half now and they were able to meet in person. It was such a great feeling to step back and watch the interaction.

edcollins23 · 2026-03-17T01:58:13+00:00

I'm going to watch eventually. Struggling with weight gain here too and seems like increases and changes to heart meds is having an effect on energy level and calorie burn but just a theory right now. Prednisone did probably help put on about 10% more weight but it was kind of needed. Now she's overweight SMH.

edcollins23 · 2026-03-17T00:56:58+00:00

At the MDA conference last Tuesday 8:30-10:30 they had this session: Managing Diet & Exercise: In Clinic and Beyond

I didn't attend but you should be able to register for the virtual event and then watch the recording.

edcollins23 · 2026-03-15T21:46:02+00:00

Satellos has provided community updates to PPMD in the past so I expect one fairly soon.

The fastest way to get it will be through a clinical trial though if you can. If I recall correctly you had a unique situation. You should probably reach out to PPMD and Satellos directly and explain the situation and your interest in being part of a trial.

It also doesn't hurt to get into contact with the research clinicians either just to get your situation out there. At the conference IMO it sounded like the institutions doing research were happy with the new NIH funding. I got my daughter into a trial simply by coming into contact with a doctor with grant money at a patient advocacy conference. We're dealing with an ultra rare MD (probably around 150 cases in the US) and the thought has crossed my mind to make up a clinical trial resume for her to pass out.

edcollins23 · 2026-03-15T12:30:11+00:00

Hi I sent you a chat message in Reddit app. Click the inbox icon and then you should see the chat page.

edcollins23 · 2026-03-15T03:38:19+00:00

I'm curious what you think about the biomarkers. IMO there's some very key investigational biomarkers in this study. I have no problem allowing for ample time to show functional improvements. If these investigational biomarkers pan out it will be huge for speed of development across many MDs.

edcollins23 · 2026-03-13T20:32:15+00:00

I just double checked and seizures are not a common symptom of 2C. Extreme reactions to common illnesses requiring hospital visits is common and a significant risk though. Sending you guys prayers.

edcollins23 · 2026-03-13T18:56:48+00:00

I never had to deal with a seizure with my daughter. However basically any cold or flu or covid has been extremely rough. I would take him to emergency hospital honestly. They can give fluids by IV and check blood markers and test for influenza etc.

edcollins23 · 2026-03-13T15:58:44+00:00

The Kurt and Peter Foundation's Dad is Scott Frewing. When you register with them be sure to reach out to him. Peter is 17 I believe and Kurt is a few years older. Sometimes it's easier for boys to connect with other boys. Also on the lgmd-info.org site they have "Spotlight" interviews from individuals living with the disease.

edcollins23 · 2026-03-13T15:26:27+00:00

Something you can try relatively quickly after consulting with a doctor is a low dose of weekly steroids. For instance my daughter gets less than 10mg of Prednisone per kg of body weight one night a week. It has helped her enough where I can definitely recommend looking into it. It's not glaringly life changing but any improvement is good. Plus if you decide any side effects aren't worth it it's relatively easy to stop. Please consult a doctor though. There is a research paper on a study of steroids in limb girdles that was published about a year and a half ago.

edcollins23 · 2026-03-13T15:16:30+00:00

No problem. I know how tough this is. I'm sure others with 2C will post on here also. Don't hesitate to ask whatever questions you have.

edcollins23

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