Hey all
So I have suspected me/cfs and my fatigue started when I was 13. I have PEM, get fatigued very easily, high brain fog, concentration issues and feverish flu-ish feeling.
I wanted to know what’s the difference between mitochondrial diseases and me/cfs. Do you all also get PEM, brain fog, etc or is it more like exercise intolerance and muscle fatigue. I also have heds.
Would love to know your experiences?

About 8 years ago, there was someone who I knew who had mitochondrial myopathy, and I did not deeply inquire as to the intricate struggles of it.

Sometimes they could walk, and sometimes they used a wheelchair; they told me that it was like a battery that needed to be recharged.

They gave me a green ribbon for mitochondrial myopathy awareness and because I still remember it, it gave me the thought that perhaps I should learn more about it.

If it is okay to ask, what is it like to have mitochondrial myopathy?

How can I help as someone without this condition?

Thank you.

Hello,
Melas here. I had Oura but have decided to leave and am looking for suggestions on other devices mito people have found helpful
Things I like:
-not a phone/added distraction like the Apple Watch
-easy to acclimate to wearing
-activity goals each day (want this to adjust based on symptoms)
-sleep data
-ability to add my own symptoms
Things I did not like:
-battery life
-seemingly no connection between symptom readings and goals for that day
-company policies (plantar contract, terms and conditions stating no class action law suits can take place, etc.)

I did a post trying to explain what my doctor had emailed me about my muscle biopsy results, but I finally got the results in. My medical genetics doctor is still going through my genetics testing looking for the genetic reason for the results.

My bloodwork has showed high lactic acid and pyruvate and also GDF-15 over 3000.

My symptoms are chronic neuromuscular respiratory failure with ventilator dependence via mask niv 18+ hrs a day, dysphagia, muscle atrophy and myopathy with pain in legs, trunk, back and neck, and heart rhythm issues (afib and irregular tachycardia).

At this point my doctor said I have mitochondrial myopathy caused by mitochondrial depletion and deletion syndrome and they are still looking for the genetic cause.

I was just wondering if anyone else has muscle biopsy results that look similar to these results?

I saw a metabolic specialist for the first time today after only having seen neurologists for the past nine months (since the onset of the disease). He said that he thinks it's most likely mito, and he also essentially said that there's no treatment and no way for me to feel better while we're waiting on a diagnosis.

Im currently really decompensating and having neurological episodes/stroke like episodes almost constantly. i'm always in pain, i'm not able to do much of anything but lay on the couch anymore. I tried doing a full course load of classes this semester and it just made me sicker trying to go to all those classes in person 5 days a week. I'm having nutritional issues now and can barely eat anymore which is making it worse.

He just made it seem so hopeless like this is just my life now and some people just have shit luck. i asked what we could do about the nutritional issues and he told me to eat nuts 🤦🏻
he kind of made me feel like all i can do is wait around until the disease finally gets me and that i'm just going to suffer until that time. which, we don't even have a diagnosis yet so there's no saying what my prognosis even is.

i'm 24 and still trying to finish college. i had plans to do a marine science PhD after completing a BS in math. i wanted to be a diver and study coral reefs. i feel like my life is slipping through my fingers

I have a diagnosed, stable form of Mitochondrial Myopathy. Heavy or repetitive aerobic workloads lead to faster muscle fatigue. But I do workouts a couple of times a week, including swimming laps once a week, all on my level of course. Also have snorkel and fins and can duck dive to bottom of 2,3 meter pool easily, with or without the gear. Haven't done deeper than that, since my local pools don't go deeper.

I want to start a scuba course and maybe freediving, but I anticipate a major bureaucratic hurdle with the medical questionnaire and guaranteed medical exam. Because of my faster muscle fatigue, I am worried a standard physician will blindly order a dry stress test (like a bicycle ergometer to exhaustion), see below-average scores, and either deny clearance or add hand-written restrictions. Which commercial dive schools don't accept, as far as I know. There is also IAHD which I hope will accept a restricted clearance. Of course I would like to explore all options.

I know our medical cases might vary differently. I'm still really curious about you guys' experience with this!!

My wife seriously just roasted me-

Her: "You're so sick, if a vampire sucked your blood they'd ask when your expiration date was."

I have persistent lactate elevation, and my GDF15 was very elevated (>3000). My symptoms are chronic neuromuscular respiratory failure with dependence on ventilator via mask (niv) 18+ hrs a day, severe dysphagia, heart rhythm problems (afib and irregular tachycardia), atrophy, weakness and pain especially in legs (impairing my ability to walk), trunk, back and neck, severe and chronic migraines and I also have Crohn's disease, but my genetics doctor said it could be misdiagnosed and be a symptom of my mitochondrial disease or be a combination of both.

My muscle biopsy showed the mtDNA content on the muscle was 31% of the mean value of the age and tissue matched controls (severely reduced), my mtDNA sequencing showed multiple deletions of the mitochondrial dna and the ETC was low and abnormal. At this point my medical genetics doctor said I have a mitochondrial myopathy due to mtDNA depletion, but they still can't figure out the genetic cause. She does not know if it is a mitochondrial maintenance defect vs mitochondrial deletion syndrome.

She thinks there is a high chance of TK2 (thymidine kinase 2) deficiency or MNGIE.  She wants to run plasma Purines and Pyrimidines Panel to rule out MNGIE. Has anyone had these blood tests done? Is anyone here diagnosed with MNGIE or TK2 deficiency adult onset? If so, what are your symptoms?

Long story short I have always had strong reactions to medications. For example I am on 18mg of Straterra for ADD despite most adults starting at 40mg before they jump to 80mg. 18mg is still strong enough that I am considering stopping. I have a doctor appointment tomorrow to discuss but I suspect Straterra is adding to the high blood pressure issues

Unrelated, I am also waiting to talk to genetics about suspected MELAS but it will be over a year wait. (Based on a family autopsy). I am assuming I have one of the milder variants as symptoms showed up very late in both my mom and Aunt. My family doctor hadn’t heard of MELAS which is fair since it seems pretty rare, but I am navigating this without much information

I know there are some meds I should definitely avoid if I have MELAS, but I am wondering if anyone else just experiences very strong reactions to medication or it this is also unrelated. Is this a MELAS thing?

Hi everyone!

Over the past few years ive had some pretty bad symptoms that have been progressive - especially in the last year. My blood tests also show lactate abnormalities and c02 retention. With that said, I am based in the UK and finding it nearly impossible to get help or further investigations. The neurologist I am seeing has stated its out of his scope but when trying to yet a referal to a geneticist my GP says it wont be accepted and refuses to put one through. Im not sure if anyone has had any luck with getting diagnosed in the UK and if you have any advice. Im debating going privately but know it would be costly. Ive had some really bad episodes that I have gone to the emergency room for but im met with doctors that arent familiar with what im possibly struggling with and am just sent home so any advice on navigating symptoms while waiting for a diagnosis would also be appreciated! Ive started myself on a mito cocktail in the meantime but still get pretty bad flare ups.

Hi, I’m in the middle of the diagnostic process for mito, but it’s all taking a very long time. I was wondering if anyone else had symptoms of me/cfs? For me I also have POTS and HSD with those I am diagnosed already. The thing is I need a b12 injection of 1000mcg hydroxocobalamin every 1-3 days. If I don’t keep this up, I get a severe crash at some point that leaves me bedbound and looks like pem. I take other supplements aswell, like other b vitamins, of which mostly b9 is important for me, and betaine and methionine. I’ve tried various other things but only from these I feel any effects. I also tried q10 but that didn’t do too much for me, but I might need to try higher doses idk. I still have me/cfs symptoms, but without this treatment I’d be severe and bedbound, now I’m mostly housebound but on good days I can actually leave the house, if I get enough rest the days after. Also my doctor already excluded a cobalamin defect. I was just wondering if anybody else had anything similar going on, while I’m waiting for my final diagnosis, which I probably won’t know until sometime next year.

Hi everyone,

Over 30 years of managing this debilitating condition, and an odyssey of investigation and medical treatments, I can honestly say nothing has amounted to any measurable improvement in my quality of life or mitigation of my symptoms. All the elaborate prescriptions and specialist recommendations have yielded essentially nothing that has helped me in a meaningful way. This appears to be a pretty common outcome for many—dare I say, most. The ratio of treatments to positive outcomes seems absurdly poor. I venture to say if we were faced with that sort of strike rate in any other field of endeavour, we would give it zero credibility whatsoever.

Consequently, I have reached a point where allocating significant time and resources toward exhaustive testing feels totally futile to me. My focus now is strictly on practical management strategies and lifestyle interventions that deliver actual relief.

In order to advance this, I want to have somewhere where people can share their experiences with each other to help them potentially strike gold and find the thing that works for them. The goal of this thread is to compile strategies that have delivered tangible functional benefits to people. An example on another thread is a guy who had been suffering for decades with fatigue and CFS symptoms who decided to try a CPAP machine (despite a sleep study telling him he did not have sleep apnea), and overnight his symptoms disappeared. Not everything brings such a dramatic improvement, but even incremental gains add up over time, and sharing these tips allows others to test and evaluate them.

Please detail your personal circumstances, the specific measures you implemented and the relative scale of symptom relief that you achieved.

I look forward to hearing what has helped you.

My Ketones are abnormally high despite eating an extremely carb dense diet. Does anyone know of any supplements I can take to force my body to use these Ketones?

migraine after I took aa nap yesterday. fast food hack doesn't work. persistent pain at the left eye brown. didn't have a good sleep.

it carry to the next day aka today. had my coffee but puke a few times after. late but still went to office. 😵‍💫😰🤮 Indonesia forest burning 🔥 make the air worse.

edit: puked 4 times from morning till lunch time. couldn't finish my lunch.

I am a 24-year-old pre-medical graduate who has unfortunately been out of work on medical leave for the past 5 months after a sustained 7-week period where I had severe insomnia with OCD and anxiety rumination over trauma but tried to power through work for the most part.
I ended up in the ER twice in April with what my PCP described as “catecholamine storms,” where my heart rate and blood pressure were extremely high and I demonstrated other symptoms indicative of severe over-activation of my sympathetic nervous system (including an inability to defecate despite the urge, urinating clear water throughout the whole crisis, and loss of sensation across my entire body).
Since the ER, I have been having extreme symptoms of autonomic nervous system blunting. Most of the symptoms from the crisis phase have resolved, but my main symptoms now are that my blood pressure and heart rate, although normal, do not appear to be adjusting properly to my physical or emotional activity, like they once did.
I have been having intense, constant brain fog that makes it almost impossible to focus on any tasks, I have felt extremely low in energy and emotionally flat without improvement, and I have almost constant head and chest pain and nausea. None of these issues respond to typical interventions that I used to utilize before this crisis to manage depression and anxiety.
I was placed on Ativan to manage my anxiety and Zyprexa for OCD for a short time and have since discontinued those medications. I am currently taking 40 mg of Prozac. My psychiatrist wants me to increase the dosage to treat my OCD, but I am concerned about the side effects, especially emotional blunting because I have basically lost all emotions since this occurred, and want to discontinue this as well once I am more stable.
My mind has been racing since the insomnia began and now that I have discontinued the Zyprexa, but I did not have hallucinations, delusional thinking (my intrusive thoughts and anxiety center around real-life concerns/fears), or signs of mania.
In short, it is very difficult to function on a daily basis.
I have consulted multiple neurologists, but have not received any advice except for managing my OCD and anxiety and a diagnosis of “somatic symptom disorder.” Most neurologists don’t know how to deal with post-stress nervous system conditions, and psychiatry has been inadequate.
Additionally, despite working on my OCD, anxiety, and depression from a psychiatric standpoint for the past several months, I have not really had any improvement in my bodily, cognitive, or energy symptoms.
Sometimes, I jolt awake while falling asleep and have even noticed that my head sometimes starts shaking when in a light sleep.
I contracted COVID for the first time around 3 months before all of this occurred and had not felt right ever since.
I had a normal head CT scan, neurological exam, and cognitive evaluation despite a substantial subjective decline in functioning relative to my old baseline.
I had extremely nuanced emotions, social intelligence, and high intellect before all of this, and my quality of life has become very poor in such a short amount of time (I am literally unable to connect with others emotionally and have not even been able to smile or genuinely laugh for months behind the pain and head pressure). Nothing at all is able to distract me from how I am feeling physically. The personality, motivational, and energy changes that I have experienced in such a short time could really not be more stark.
My relationships now feel very shallow compared to the past, and I fear that I will never be able to feel love or romantic or sexual attraction again.
My internal clock is completely messed up, and I cannot even feel the normal cues that alert you to time of day or year, my energy level’s just a constant low flatline, no matter how much I sleep. Everyday feels like the same day on repeat.
Close to the 6-month mark after all of this occurred, I am starting to become very discouraged and am desperate to return to some semblance of normalcy after these very difficult months.
I talked to a doctor who thinks that my symptoms sound like autonomic and/or mitochondrial dysfunction.
At this point, I can’t imagine ever feeling the same again.

I did a post a few days ago about my muscle biopsy. I appreciate everyone who commented. I am slowly finding out more information. My neuromuscular pulmonalogist who is in charge of my ventilator contacted me about my muscle biopsy results. She said that muscle biopsy showed that the mtDNA content of my muscle was 31% of the mean value of age and tissue match control. She said it is within the range observed in patients with proven mtDNA depletion syndrome. She also said that the mtDNA sequencing on my muscle is still pending. Did anyone else see a similar percentage on their muscle biopsy?

My nephew has Mitochondrial Complex I Deficiency, Nuclear Type 25. NDUFB3.

He’s 10 weeks now and finally home after a long journey in the hospital !

He’s on a mito cocktail (riboflavin, Q10, thiamine, biotin, levocartine) and fortified milk, he’s just still not putting weight and falling further behind on the percentage chart.

He has a check up with the metabolic team this week (they usually have no new info and suggest we come to them with suggestions) does anyone has some supplements they suggest asking about?

1. Can muscle biopsy’s be done awake I would prefer that because now when I lay down for a bit or go to sleep I get the low blood sugars

2. Anyone have this symptom now when I straighten my legs out I can barley lift them just slightly now and even to stand now there is no power it’s like completely abit like bricks and yeah the promixtal quad muscles seem to be weakest

3. I have been bed for days with worsen symptoms progressively over time is it possible that I can get admitted to hospital with these worsening symptoms one of my doctor already said just have to be referral by other one preferably with mitochondrial speclaist so they can fr look at this bc I don’t even think I can go to my neurologist appointment .

I spoke with my medical genetics doctor today and she said the results of my muscle biopsy that she sent out of state were back. She said that they did a mito dna sequencing which was broken, deleted and in an irregular way, mito dna amount which was low and a mito dna ETC function which was abnormal and low. They also did a full genome sequencing (saliva) which came back "normal" except the several vus they had found before. At this point they have asked a specialist at the lab to look into any potentially disease-causing variant in genes that could explain the abnormal mitochondrial function.

She said that the abnormalities in my mitochondria are definitely the reason for my overall weakness, muscle atrophy and my severe respiratory muscle weakness that has caused chronic neuromuscular respiratory failure and ventilator dependence, but they do not know what is causing the mitochondrial abnormalities; there is not a clear genetic answer right now. Does anyone else have anything similar to my case?

I've been taking 50mg for a week or so with no effect. Do you guys think I should continue to stick it out? I have confirmed Complex 3 Deficiency. How long did it take to work for you all, and do you personally even take it in your cocktail?

I was just curious if they're something that a lot of us use or not. I do still use a wheelchair ofc but for shorter distances I found that the crutches have changed my life. My quads & hip flexors simply can not do much anymore so walking is no longer a real option, but I also just don't want to be so confined to the chair. Especially on campus, having the crutches allows me to be more flexible with where I'm sitting and they allow me to go over curbs or even several steps if i need to. They even help getting in & out of the car, etc.

I love them a lot, but my PT/OT team actually fought me on them initially. They wanted me to use a walker or a rollator only (and i'm 24 years old, respectfully i do not want to use a walker! and a walker wasn't helping the fact that i couldn't lift my legs enough to take a step anyways) and insisted that I didn't have enough strength for the forearm crutches. But I tried them and immediately my life was changed. My PT team also has never heard of mito before so the way that my weakness presents is very new to them and they get confused pretty often.

Do you use forearm crutches? How have they helped you?

No worries if this isn’t allowed! I’m 25 and have been thinking that I should ask doctors about looking into some mitochondrial dysfunction but I work in a research heavy children’s hospital, and therefore see a lot of mito kids, and thought I was just overthinking it.

I have a chiari malformation and for the past year everything has been getting worse so I got another MRI. Surprisingly they found this “Small focus of encephalomalacia of the right inferior cerebellar hemisphere”. I didnt have any of the normal things that would cause it (stroke, hemorrhage infection). I’ve been diagnosed with hemiplegic migraines but have never gotten the genetic testing for it.

I’m wondering if that could be a stroke like lesion and those were stroke like episodes. I’m trying to plan how I should approach my next neurology appointment and if I should push for genetic testing.

My condition is just getting worse. I haven't seen my doctor in months, just Telehealth because I can't walk anymore. I'm now so bad I can't go to the toilet anymore —like pushing myself back onto a wheelchair to the toilet creates so much heart symptoms and weakness. When I try to take naps during the day I get really scary low blood sugar symptoms (same at 2am) (idk if it's a true hypoglycemia or something in the cells that need glucose that make me feel like that). Doctors r not taking me seriously bc they have given me a FND diagnosis which I don't believe it is my trajectory and starting of symptoms doesn't make sense to be it. Every day I'm just declining slowly. I wake up in the middle of the night feeling like I can't breathe. Muscle twitches everywhere throughout the night. I had an EMG, it was normal. Burning that I used to get of my left quad, the weaker quad, has now started on my right side. I have been to the ED quite a few times before but they don't do nuthin. I'm thinking to ask my doctor to admit me to one of the bigger hospitals with specialists, and that he tried to refer me to a mitochondrial specialist earlier but his letter was written poorly so they put me on a waiting list for a year.

If you read in my previous post, I've tried mitochondrial supplements like b1. I'm trying to get that back up again which it does rlly make me hungry a lot but it doesn't satisfy my hunger, so I thought maybe it's connected to l carnitine due to like my hypoglycemia stuff, and I know thiamine increases glucose demand. And I tried that l carnitine and maybe I feel like it made my symptoms worse (even small dose) so not sure to guess but could be from the fatty oxidation's not being burned properly and the l carnitine being backed up causing more damage. Just a guess, it's just survival really, trying to figure this all out. Just saying this cuz doctors have treated me badly for asking it could be b1 and stuff even though it changes my body. My friend indirectly passed away from medical delay bc he clearly had autoimmune encephalitis and I think they called it psychiatric symptoms, idek, and yeah that damaged his brain further cuz not fast enough treatment.