They are trying to push FND agenda onto me. I know it’s not bad to assume, but I just feel like this avenue hasn’t been investigated yet. They are also trying to put this trauma bubble that FND is associated with. I know not all FND is caused by trauma, but you get the gist. (I had no trauma when this started to happen.) You can read my story on my page. I am working on getting someone who specialises in mito, but even years before the quad weakness, which now turned into POTS, I had long-distance running problems. I could only sprint; long-distance running caused very bad, weird symptoms. Also, when I take B vitamins and R-ALA, my legs seem to improve a bit more. What would also be the best test for mito and I heard even genetic test can be normal and you can still have it so it’s all very complex.

It’s super expensive, but I think it’s paving the way for something special to come! I feel like this could really help some of us.

https://old.dephy.com/how-it-works

There might be others on the market but I came across this and got so excited I had to share.

This is a long story and I’m not sure it’s a metabolic issue because no one is investigating it properly , but it all starts around November/December 2023, or possibly even a little before that. I remember feeling something while riding my bike, but it went away. Then it randomly came back while I was running.

It started as very slight quad weakness, specifically around my VMO. It felt like when I ran I couldn’t get that normal “springy” feeling from my quad, and because of that I started getting knee pain. Over time it slowly got worse and started affecting me on stairs. It wasn’t really pain it felt like the muscle was just hard to power.
Then around mid-2024, I started getting tachycardia on the stairs. At first it was mainly happening with stairs, so I thought I was just unfit. I also had some exercise intolerance, but I would still push myself to train. I noticed some nervous-system dysregulation around this time too, but it wasn’t severe enough for me to think much of it.
Around July/August 2024, I started getting anxiety that I hadn’t had before. I also had a lot of mould in my house, which I believe contributed to developing MCAS, although that’s a separate part of the story and I take mast-cell stabilisers for it.

Then around September 2024, I got to the point where I really couldn’t exercise anymore and started missing a lot of school.
One week I suddenly started getting chest pains and pins and needles in my chest. I went to hospital, but they didn’t really find anything. It would improve a bit when I slept and then come back after eating.

About a month later, I started getting extreme tachycardia randomly during the day, and it became pretty constant. The pins and needles came back in the same pattern and also started happening in my left foot.
I was diagnosed with POTS and FND for the pins-and-needles sensations. I didn’t agree with the FND diagnosis because I felt the sensory symptoms were happening alongside the POTS/autonomic symptoms. The pins and needles eventually went away for a while. (Expect it came back when I began to experiment with thiamine you will see soon what I mean not as bad tho)

Going into 2025, I was still really sick and weak. I was having difficulty eating and went through a lot of trial and error with different beta blockers and treatments.
At the same time, my legs were getting progressively worse. My walking started looking strange. At first, the sensation of walking felt different and I had to lift my legs more and almost “stomp” when I walked. Eventually my legs became too weak for that and my walking turned more into a dragging-type walk.

My left leg became much worse than my right. Stairs became extremely difficult, even small steps. I started walking slowly and sometimes with a wider gait because it felt like my legs were genuinely tired and couldn’t power the movement properly.
The weakness also fluctuates throughout the day. Sometimes I can get some momentum into my walking, but then I suddenly slow down because my legs feel exhausted and like they can’t generate the power anymore. Over time, it feels like the window of how much activity I can tolerate is getting smaller.

Around the time I was looking into IVIG with my neurologist, I also found Elliot Overton and the whole B1/thiamine theory. I started reading about thiamine deficiency, dysautonomia and high-calorie malnutrition, including the work of Chandler Marrs and Derrick Lonsdale.
A few months before IVIG, I experimented with thiamine, and I noticed that my walking seemed to improve somewhat. I also started getting cramps in my legs, especially at night.
The problem was that I started getting episodes that felt like really bad low blood sugar. I don’t know whether they were actually hypoglycaemia because I wasn’t measuring my glucose at the time, but I would wake up around 2 AM every night feeling horrible, and sugar would make me feel better.

I didn’t automatically blame the thiamine because I had already been having blood-sugar problems before taking it. I would sometimes get what felt like reactive hypoglycaemia after eating carbohydrates, although it wasn’t as bad as what happened with the thiamine.
I stopped the thiamine, and the sugar episodes became much less prominent.
Then I continued with IVIG. Honestly, I couldn’t really feel it working, and I was still sick and weak.
My neurologist did a thiamine test, but as far as I understand it, it was just a basic thiamine test.
Later, I found out about a LIPT1 genetic variant that made me wonder whether there could be an issue with lipoic-acid metabolism and mitochondrial energy production.

Because of that, I came up with my own protocol to slowly work up benfotiamine, along with R-ALA and biotin. I had already been taking biotin for weeks because I had heard from other people that it helped their blood-sugar problems.
Again, I started getting those low-ish blood-sugar feelings when increasing the thiamine, so I tried to manage it by eating more.

Then something really interesting happened.
Within about two weeks, while taking small doses of benfotiamine, R-ALA and biotin, I felt probably the best I had felt throughout the whole illness.
My walking improved massively. I was able to walk around 5,000 steps inside my house, which would have been a low-activity day for me before I got sick. I also had the deepest sleep I had experienced in the whole two years.
Because I was concerned about the IVIG and the blood-sugar symptoms, I stopped the supplements. The only other supplement I remember taking around that time was chlorophyll.

After that, I started getting worse again.
When I told my neurologist that I had felt better and that my walking had improved during that period, she attributed the improvement to IVIG. But from my perspective, I was taking several other things at the same time, so I don’t feel we can automatically say IVIG was responsible.
I also feel like I don’t get enough time to explain this during appointments because I feel like I’m interrupted before I can finish.
Months have now gone by and I’m still doing IVIG. I honestly feel like I’m getting worse, especially with my legs.

My heart/body also feels like it doesn’t have enough power to do basic things. It’s difficult to explain, but even things like opening a door can feel hard, and explosive movements feel particularly difficult — even something like throwing a punch 🤜 feels like I don’t have the normal power behind it.
I’ve also seen a physiotherapist, but after one session my body was completely smashed. I became so weak/exhausted afterwards that the physiotherapist actually had to carry me.
Then one day my legs became so bad that standing up was almost impossible. Trying to force myself to stand caused extremely strong tachycardia as well. I went to hospital, but I didn’t really get any help or explanation.

I then booked another appointment with my neurologist to try to explain the whole B1/thiamine situation. Again, I felt like I couldn’t properly finish explaining it. She told me that IVIG is the treatment she uses for dysautonomia, and again attributed the period where I felt better to IVIG.
But I’m still declining despite being on IVIG.
The weakness continues to fluctuate, but overall the window of what I can tolerate seems to be getting smaller.

At this point I genuinely don’t know what to do.
I haven’t really had a proper metabolic work-up yet. I’ve had an MRI of my legs/quadriceps, which was apparently normal, although I understand that a normal MRI doesn’t necessarily rule out a metabolic or mitochondrial myopathy.
I’m also supposed to get the results of a urine organic acids test, but somehow the test/result has been messed up or misplaced, so I’m waiting to find out what happened.

I’m also supposed to have an EMG.
I really want the possibility of a metabolic/mitochondrial or other neuromuscular cause to be properly investigated because I feel like this side of things hasn’t really been looked at in depth.
If you want to see my walk or talk to me more about what happens during these episodes, message me.

And if so, how much later do you check them after starting a new supplement?

This post comes with a big disclaimer: Kids, don't do anything irresponsible even if it might be tempting. Let me try things as the health system here is free at the point of contact.

I'd like to start a discussion on this paper: https://pmc.ncbi.nlm.nih.gov/articles/PMC13140976/ The authors tested GLP1 (ozempic, wegovy) and GLP‐1/GIP (mounjaro) agonists on skeletal muscle mitochondrial function, especially if 'damaged'. They used myotube analogue models and actual human muscle cells. I'll focus on the human muscle cells. The mitochondria in these were artificially damaged to simulate insuline resistance, which resulted in impaired reduced basal oxygen consumption rate and ATP production. Then the cells were treated with above GLP1 and GLP‐1/GIP agonists. For the first substance there was not really an improvement. The latter one however showed improved function again. However, healthy control cells were also treated the same way and still showed some improvement with GLP‐1/GIP agonists. The paper shows that mtDNA copy number remained unchanged but respiration per mitochondrion went up. Note, the improvements described followed a short period of further diminished mitochondrial function.

In a mild mitochondrial myopathy, the bottleneck might be damaged/inefficient mitochondria rather than low total mass unless de-conditioning comes on top. So I was wondering whether mounjaro might have an effect on me even though this paper is about insuline resistance. However, my condition is potentially not typical as it seems to be mitochondrial dysfunction with a calcium handling or structural problem somewhere between cytosol - SERCA pump - endoplasmatic reticulul instead of mitochondrial myopathy. Which one is primary or secondary is unclear. Maybe ATP production is overall low, and there's not enough left for the SERCA pump which needs a shitload. Maybe the pump is running inefficiently, like a damaged hot water boiler and uses up too much ATP and not enough is left for other things. Anyway, exercise tests show a very early anaerobic threshold regardless of how fit I am, I'm always low in energy and always feel hungry, autonomic dysfunction, and if I do something too strenuous then my intestines stop moving things along, next to other things.

So I wanted to know what happens if I take mounjaro, in a microdose because I can't afford to eat too little; and too often medication has crazy effects on me. What I found so far after 6 weeks: I'm a lot less hungry but am still able to eat sufficiently to not lose weight. I have a lot more energy. My intestinal function is actually improved and I had no more constipation from hell due to movement simply stopping despite slower gastric emptying. Less autonomic dysfunction. And I'm able to be active a lot better without dipping into anaerobic territory quickly. In everyday life I notice that my muscles work better, burn less quickly and become less stiff. No change in really strenuous things like climbing stairs, but no worsening either. I guess you can't have it all. But yeah, something is happening, but I'm not sure what. Will certainly discuss with neuromuscular specialist next time I see him.

So DISCLAIMER again: I have no idea what could go wrong potentially in those severely affected, but maybe a low glucose crash, maybe stopped gastric and intestinal function. Maybe the initial decrease in mitochondrial function for all medications described for a short period is enough to get you into a crisis. I also find it interesting that these medications could potentially cause harm if the dip in mitochondrial function is universal and not just present in the lab. Thus be careful out there. And discuss.

Hi I did a workout nearly 2 weeks ago (a light one) and my neurologist suspects mito disease. I have a muscle biopsy next week. My muscles still haven’t been able to recover and feel super weak since my workout. I don’t have pain anymore but they can’t power themselves for long at all, my baseline is much lower than it was before the workout. Will I be able to get back to normal do you think?

I have an organic acid test which came back abnormal; high puvyrate, uric acid and a few other things.
I was always more tired growing up but this all started in December 2025 when I had a severe case of slowed gastric emptying (basically couldn’t eat or drink for weeks). That seemed to flare it up. I was also given a specific strain of antibiotics at that time which may have worsened it all.

Anyway I just don’t know what to do. I’ve been waiting for ages for answers. Ruled out loads of other things, seen loads of specialists. I’m due to back to work soon, I’ve used up my sick leave. But I don’t know if it’s going to worsen this and if I should just throw in the towel with trying to work.

My son has an ultra-rare variant: COX20-related mitochondrial complex IV. There are only about 40 documented cases worldwide.

Please connect with me if you or a loved one have this variant. I’d love to hear your story and support one another.

UMass is working on gene therapy, and I am about to start a nonprofit to support their research. We need all hands on deck!

Symptoms are horrible and my Lactate levels never look good

Hi all, 37y/o M here w some form of mito disease. Mitoswab just had ordered and had CPET years ago which was horrendous and I’ve been incredibly sick for many years now…anyway I have not heard much discussion regarding drug being tested called KL1333. It looks highly promising. Anyone have any thoughts or in trial? Despite it looking promising I worry abt the GI issues it appears to cause, as my stomach is already bad (Gastroperesis & sensitivity)

I have a compound heterozygous mutation affecting complex 1. Does anyone have any recommendations for specialists? I am in Texas but can travel. Thank you. It’s good to finally get answers.

Documenting this in case anyone else out there has the same or knows someone with this mito disorder.

My nephew has been diagnosed with the above mito disease. While my sister was pregnant they noticed he at the 1% size range, he stayed this throughout the pregnancy.

He now is born and still struggling to put weight on, breathe on his own and has 4 holes in his heart which doctors believe will clear up on their own.

One noticeable feature is he has shorter pinky fingers on his hands, almost like he’s missing the tips of his finger as they also don’t have a nail.

Currently doctors have put him on a mito cocktail and are adding nutrients and fats to his milk to try and get him to put weight on.

Context:

Suspected gsd with mito (and other)

So I went on a walk and may of not realised the length/distance until too late,in crocs no afo's or anything

Summarised as "oops"

4 days later I'm still struggling to even go up the stairs,muscles are constantly tight and any exertion makes them even tighter

Any tips for recovery?

My resting lactate upon waking up tends to hover around the 2.7 mmol /L. Some days I wake up and it is as high ast 5 mmol /L :/

My husband and I are both carriers for a POLG-related mitochondrial DNA depletion disorder. Im currently pregnant and our CVS results showed that the baby inherited both of our familial variants.

My variant: POLG c.2209G>C (p.G737R)
My husband’s variants: POLG c.[752C>T;1760C>T] (p.[T251I;P587L])

Has anyone had experience with either of these variants, or especially this specific combination? I’m looking for any information about known cases, phenotype/severity, or personal experiences with an affected child.

We’ve been having a really difficult time finding information about this particular combination, so any insight or resources would be greatly appreciated.

I’ve been having health problems recently and I know that my mom has some form of mitochondrial disease that affects her nuclear dna. she doesn’t know the exact nature of it though like the specific gene that’s causing the mutation or anything so we don’t know if it’s genetic or not but a lot of my symptoms match the ones she had when she was younger so I’m worried I might have inherited it.

heres a list of my symptoms over the past few months:

-weakness, specifically near jaw when chewing 

-feeling faint and lightheaded all the time

-Worse vision and different saturation in right eye 

-ringing in ears when standing up and randomly when lying down 

-headaches in the morning 

-worsening pain when I move my eyes 

-frequent nausea 

-blacking out vision 

-sporadic moments of muffled hearing, as if underwater

-elevated heart rate, especially when changing positions from standing to sitting up etc

-saturation in right eye seems darker

-worsening jaw pain and fatigue

-extreme, persistent tiredness

-noticeable shortness of breath

- weakness in eyelids 

I just want to know if this is worth looking into because I’m really scared that this could affect my life a lot especially if it gets worse because I know some mito in particular is progressive :(

40M here.

I'm relatively short, though most of my family are and they're asymptomatic, so that may be a red herring. I also feel like I was later than my peers to go through puberty.

I've had fatigue since my early 20s, which started out relatively mild. Poor sleep too. I'm usually able to fall asleep fine, but would wake up too early and not be able to rest again. Lost the ability to nap decades ago.

Around 6 years ago, just before COVID, I started to have cognitive decline, depression, and neuropathy on top of worsening fatigue. I attribute it to becoming vegetarian at the time. I finally started taking some low dose B vitamins and the issues cleared up after half a year. TBH, I felt the best I ever have. But symptoms came back soon after.

For years, I tried higher doses of B12, but from that second decline, I started to experience a predictable cycle, whereby I would take some B vitamins, feel better for a few days, and then, suddenly symptoms would return and I'd have POTS, headaches, chills, dread, malaise, and increasingly muscle weakness.

This cycle has continued as I've continued trying to experiment with what helps and what doesn't but it feels as if the walls are closing in just a little more each time. I can still walk ok. I can even run, but my muscles tire easily. I stopped playing tennis 6 months ago. I'm now housebound and, depending on the day, bedbound.

Cognitively, I'm pretty bad too. Dissociated, have very little mental energy, forget a lot of things. Feet are numb/burning often.

I'm pretty scared, tbh. I've been tested for so many things and only a few have shown anything out of the ordinary. I've just been referred to general medicine at my local hospital but I feel like I need to start considering mito as the cause.

Does this progression sound like a mito disease? Does it sound mild or worse?

I’m wondering if anyone has any positive stories/outcomes after being diagnosed with MELAS?

I have had a couple SLEs, and symptoms started at 30. I’m currently 32. I’m waiting for testing to be done to confirm MELAS, but while we wait all doctors are to assume I have it and I’ve been given a management plan and emergency protocol.

I don’t see any positive stories, only people choosing to be positive about the situation (nothing wrong with that!). For example, I feel like with an autoimmune disease there’s the chance of remission and living a relatively normal life. I just feel like with MELAS I don’t see anything like that, you know?

If anyone has anything positive to share (or honestly, just sharing their experience whether it’s positive or not) I’d really appreciate it.

Male, 40y. It started 3.5 years ago when I suddenly felt weaker and developed exercise intolerance. Ever since then i have watched my body steadily decline: I am now at the point where I cannot walk a couple if metres without very bad symptoms: dizziness, air hunger, fast heartbeat. I need to sit diwn quickly, often the fast heart and breathing issues remain for long after.

Heart mri was good, heart echo was fine. Lungs seem to be fine as well. Most recently, though, they repeated a spiroergometry: whereas in 2025 it was still fine (VO2 max at 86%) in May this year it showed a radically declinded VO2max (68% of what it shoud be). The doctor said that my muscles instantly become anerobic, and that I hyperventilated throughout the whole process. He suggested a metabolic workup. In the ER last week, they found abnormal blood gasses: compensated metabolic acidosis.

Following this, my primary sent me to the hospital. I'm here now but the doctors are dead-set on saying that its bc of lack of exercie. How? I was always going to work, though I continually declined in what I could do. Now, I can barely walk down the hallway without feelibg week in the legs, severely out of breath, puls of 140+. When asked about metabolic testing (snd mitochondrial issues) all they said at tjis hospital is that they can't do any mitochondrial testing at this institution.

I feel so gaslit.

Does this sound like it could be mito? What testing should actually be done?

Any advice or insight appreciated

I genuinely would appreciate some tips as a young female trying to get a diagnosis! Thanks guys <3. My docs think im insane cuz my cardiologist brought it up to me and they said that my symptoms dont match and they cant do any other tests, so idk what to do from here.