r/mito

My sister got sick 10 years ago Hypertension , headache, muscles pain and high blood acidosis. For 10 years no one seemd to know what’s going on so she stayed on medications to manage her hypertension but still she’s sick until 2 months ago when for the first time she has what seemed like a stoke symptoms and her new neurologist suspect MELAS after many years of doctors and specialist gaslighting us and leaving her in pain.

My concern now is with the complete lack of information we’re getting from the medical care available in my country about whats causes this disease exactly and how to manage it, I find my self alone with no support. Has anyone had similar symptoms ? Also I’m particularly worried about the safety of contrast agents used with medical imaging ( ct and MRI) for people with MELAS. And is it of any importance for diagnosis. Thank you so much .

I cant be the only one who suffers from such severe raynauds theirs hands shrivel up from blood vessels constricting. Not just that but the deep bone aching of how cold my extremities get.

What is everyone else doing to help manage? Heat warmers only work so long and im afraid id burn myself if I use anything too hot.

I have these following symptoms:
- Symmetrical weakness in arms and legs
- few fasciculations everywhere
- stiffness
- Pain in thighs/calfs/feet
- dysphagia
- shortness of breath

I have had these following tests:
- normal emg
- normal brain mri
- normal cortisol, ck, iron, TSH, NfL etc
- normal vitamins, minerals, electrolytes

Can this even be mito without the normal mito symptoms?

My Baylor saliva came back with no variants reported. It was WGS, which includes mtDNA analysis.

I've seen a number of people on here say that only GeneDx found a variant after Baylor reported none.

I can't afford GeneDx. Any advice on how I can efficiently identify other variants to look for in my raw data from Baylor? I'm not suggesting I'd really know how to interpret them, but there just isn't really a reason to go to another specialist asking about genetics unless I already have a variant to ask them to interpret.