Advice for Fitness/Nutritional Intervention for Late Onset Pompe Disease

[Yourknightmares]

This is a rare condition that I do not have direct experience managing in adult medicine; however I did find this trial of exercise + dietary protein that showed favorable effects across a variety of outcomes.

https://pubmed.ncbi.nlm.nih.gov/32505193/

As with most other things, I would simply tailor the exercise intervention to her abilities and goals, and incorporate an autoregulation strategy that accounts for the ups and downs over time.

Figured it was kind of a long shot, thanks for the article and advice. I'll get to reading and talk to her and see what we can come up with.

Thanks for looking into it!

[Austin Baraki]

This is a rare condition that I do not have direct experience managing in adult medicine; however I did find this trial of exercise + dietary protein that showed favorable effects across a variety of outcomes.

https://pubmed.ncbi.nlm.nih.gov/32505193/

As with most other things, I would simply tailor the exercise intervention to her abilities and goals, and incorporate an autoregulation strategy that accounts for the ups and downs over time.

[Yourknightmares]

Hey Dr. Feigenbaum and Baraki,

I have kind of a specific question, so let me know if you don't have all the answers.

A couple months ago, a cousin of mine (who grew up as basically a sister to me) was diagnosed with Pompe Disease (She's 18, so I believe that's specifically Late-Onset Pompe). I'm not exactly sure of her current treatment plan, but I believe she is spending a lot of time in Houston (they live in SA) and I believe she is receiving transfusions. I'm not sure if this is an experimental disease or seeing specialist that's causing them to travel so much, but I can get more details if needed.

Hey parents approached me recently and asked about dietary/activity interventions that can be implemented. I told them to talk to her doctor because obviously this is out of scope for a Software Developer who just trains people on the side, but they told me she was told to go see "specialists" for those fields, and they want to know if it's actually necessary before doing so. I immediately gave them the advice to get her set up with a nutritionist, as I can only give basic nutrition advice, and from what I understand about the disease, it changes how some foods are metabolized so it was clearly out of scope for me. As for the fitness I said I'd look into it, but I can't find much research that seems to help other than things along the lines of "People with Pompe Disease can still build muscle".

Is there any knowledge you can add to how to set up any good fitness interventions for pompe disease? Is it even known to be helpful? Obviously any activity is better than none, but I also want to make sure I try to do my due diligence in finding out if certain training styles could help, or potentially hurt her.

Let me know if you have any info, or any ideas on who I/she can consult. In the meanwhile I'll continue trying to read up on the disease.

Thanks in advance