r/rarediseases • • 15h ago

Question Tunnel Vision In Care

10 Upvotes

Has anyone else had any experiences of practitioners "deciding" what you have and treating you incorrectly? Posted in megathread but agree w/ NixyeNox that it might be good to post separately so more people can see & weigh in!

Speaking to my physio today and being met with this type of thing, it's become abundantly clear that the 'go-to' for complex rare cases is to decide a diagnosis or etiology (that doesn’t fit) and completely ignore everything else. Even when there are hundreds more unanswered questions than answered with that diagnosis, or visible & explicit red flags or documented suspicions / diagnosis for other conditions.

Does anyone have any tips for navigating this or similar experiences & how they got through them? Seeing my lovely GP tomorrow who should be able to help & kick some things into action, but it's always good to speak to others who are or have been in the trenches with aligning everything in care too :)


r/rarediseases • • 17h ago

Question Carrier for X-Linked Myotubular Myopathy

5 Upvotes

Hope this is okay to post here. I found out last year that I am a carrier for Myotubular Myopathy, and that carriers sometimes can have mild symptoms. This was validating as I have always found it hard to put on muscle, have trouble walking up stairs, and in general have weakness on one side of my body. A neurologist I met with said there's really nothing I can do except continue to exercise, and that I will not get much stronger, but it seems like there is not much research for carriers of x-linked conditions.

What I'm wondering is: are there specific kinds of PT I should look for to help with neuromuscular connection? Has anyone in this situation found certain kinds of movement to be helpful (ex. Pilates, yoga, resistance training)? I got a referral for PT but am wondering if I should look for a specialist and I'm not sure who to ask.