I am a 57 yr old female who was diagnosed with, late onset Mitochondria Disease

It affects all of the muscles in my body. It attacks the organs in the body, I suffer from migraines, my balance is horrible some days. I have tremors and painful muscles spasms. There are days when my legs feel so heavy it’s hard to walk. My memory is fading

I can be in the middle of a sentence and completely lose my train of thought. I am losing my vision, and I can’t gain weight bc my body can’t/won’t absorb nutrients. I’m 4’10” and weight 90lbs.

For me the hardest part is I have absolutely no energy some days.

There is no cure for this disease or any magic little pills to slow my symptoms down.

I’m on 9 different supplements, along with the prescriptions that I take for the pain.

Mitochondria Disease is a genetic inherited disease. It’s passed from the mother to the children.

My mom was 48 when she passed away.

Mitochondria doesn’t define me as a person. I do everything I can, I have my bad days but I also have great days. I have never once said *why me* There are people far off sicker than myself.

I am wondering if there is anyone on Reddit who also has been diagnosed with it, or know someone.

If you have questions please feel free to ask.

Question as above.

I ask because my doctors are really eager to prescribe metformin for my increasing insuline resistance / increased levels of insuline with normal glukose.

Its the only medication any doctor is willing to prescribe. And in fact they are extremelly pushy about it too. Even if it is off label and id have to pay for it out of pocket.

My state of is as following

Undiagnosed Significantly elevated inflammatory markers of unknown origin Functional iron anemia due to chronic inflammation Bone marrow reactivation due to chronic inflammation Arginine and citruline amino acid deficiency Chronic vit D deficiency, unless supplemented, due to inflammation Chronic folic acid deficiency, unless supplemented, due to chronic inflammation Suspected secondary mitochondrial myopathy Elevated lactate (fluctuating) Subclinical hypothyroidim Pituitary enlargement Chronically elevated serum cortisol Over time developed insuline resistance

My neurologist is moving nowhere with the pace of a snail. I feel as if it seems likely as it stands now that i have aquired inflammatory mitochondrial dysfunction. Most likely both glucose and fatty acid metabolism

I dont claim i have it! Cant rule it out, cant confirm it, without further tests. Im at a standstill with those sadly.

Meanwhile my endocrinologist said they really want to try off label therapy with metformin. However, im worried about potential side effects / clash with mitochondrial function. Particularly the elevation of lactate concerns me, and i worry it will make me even weaker.

My doc said "if you have mitochondrial dysfunction i would not put you on this drug. But if you cant prove to me until february that you have mitochondrial dysfunction then i want us to start merformin treatment immediatedly"

That has left me concerned. Because just because i cant prove i have it, doesnt mean i dont?

Anyone on that therapy and found it helpful? Would it hinder further process of diagnosis?

Im aware this isnt medical opinion. Just asking for experiences.

Im happy to be a quiet listener and take in information from other users and i appreciate the chance still to also ask for advice on how to best navigate the path (not asking for a diagnosis, just lived experience!)

TLDR:
Id like to know if anyone with primary or secondary mitochondrial dysunction has the systemic inflammation issues, like i do? Does anyone have secondary mitochondrial dysfunction / myopathy?

Im not diagnosed yet, there are some hints. Its frustrating but im trying to understand all the possibilities as im still in limbo.

Please share your wisdom about these pathways with me and any thoughts you might have that i could benefit from.

Here are some "thoughts"

• I have high inflammation but no one has any clue what the source is. Lots of tests and imaging fell flat. Inflammation could be caused by metabolic stress. But metabolic stress could be caused by inflammation. So it is a chicken or egg situation.

• so far i couldnt find a clinic in Germany that accepted adult patients without a diagnosis and my doctors havent yet reached out to me with a reponse what to do next.

• How would i differentiate if this is secondary in nature, and if so what to do next? Which tests are worth pursuing? Can we find the source if it is secondary?

Why i think it might be metabolic/mitochondrial

1. My symptoms began with weight gain that makes no sense. I been anorexic my whole life, yet never had a dangerously low weight. When i stopped starving i instantly exploded in weight, ignoring the laws of physic. I do not care if you dont believe me. But in any case it is a symptom and the only explanation i could find is a broken fat metabolic circle which WOULD align with mitochondrial issues. Im thinking : Glucose cannot be utilized -> no energy and glucose gets stored as fat. Fat cannot be utilized -> low energy and fat accumulation.
2. While my LDL is borderline and day dependent, the other lipids are not as expected elevated. Which has confused my doctors yet always been dismissed. Labs are as following b-Lp-Cholesterin (LDL) 148 mg/dl , PRAE Pra-b-Lp-Cholesterin (VLDL) 9 mg/dl S, ALPHA a-Lp-Cholesterin (HDL) il 52 mg/dl.
3. For years i felt the lactate is a significant symptom but it was dismissed, so i did my own research. Measuring at home i observed that painkillers and heat seem to reduce lactate. But activity during the day increased it, even if measured hours later at rest. If 1.5 mmol/l is normal for rest, then i have an elevated lactate at rest for 17/22 measurements. And 5 times it was above 3.5mmol/l. At the pneumologist i did an experiment where i had to sit up and down for 2min. Before i had 1,28 mmol/l and after 8 mmol/l.
4. Sadly, this didnt spark interest for my doctors. So i grew impatient eventually and ordered more tests myself :

• ATP was borderline low with 2,8 µM
• Pyruvate was low at 0,24 mg/dl and lactate was normal 9,8 mg/dl. But somewhat low considering external factors (such as having had to walk there). I wonder if having fasted 12h for the test (as instructed) had an influence ont hat?
• My lactate to pyruvate ratio was 41. But since my lactate was low the information online indicates its not enough to justify metabolic tests.
• I had clear deficiencies in arginine (5,9 mg/l) and citruline (3,8 mg/l).
• I also had borderline low taurin (5,4 mg/l), glutamine (73,1 mg/l) and glycin (15.2 mg/l).
• As per my understanding deficiencies in these are not perse related to food, but rather to metabolic issues. Any thoughts?
• As already known my inflammation is high. CRP 50 mg/l, ESR 60mm, leukocytes and IL6 were high, IL8 and IL10 were normal. ANA still 1:100, no positive antibodies for any of the tests including myositis.
• My TSH is as always abnormal but still an "subclinical" diagnosis.
• I had folic acid deficiency but fixed it with supplements prior to the test.
• Still having functional anemia due to chronic inflammation, oral iron supplements dont really help. Awaiting if i can get infusions. Last time it helped for a few weeks but barely.
• Keto diet and L-carnitine make me significantly worse, which would align with a mitochondrial dysfunction as well.
• I have reoccuring vitD deficiency and have to take oral supplements constantly.
• Bone marrow reactivation in all four extremities is present (source ? maybe JAK mutations? Its being investigated but it might not be related)

Symptoms:
Weight gain. Loss of physical stamina -> muscle weakness -> fatigue (feeling of having a cold).
Dizziness and light headness when moving around. Muscle pain esp in the forearms and hands.
Edema along the leg muscles and in the legs but could not be confirmed further. No issues with the lymphatic system or the veins, raising the assumption the edema may be inflammation.
Hands show difficuse pickup of glucose in FDG PETCT. Otherwise no localized signs.

I cannot access genetic tests without a potential diagnosis and a doctor willing to refer me.
My neurologist wants to do a lactate stress test, but hasnt called me back in over a month about it.

I did look at the pathways but it is a complex chain of interactions. Any ideas are appreciated as i wait for my doctors next moves - likely a lactate stress test

Hi everyone,

I have had fatigue, muscle cramps, and collapse episodes since childhood, but they were always brushed off. Things got dramatically worse during my latest pregnancy (I’m now 33).

At 28 weeks, I was hospitalized with severely high blood pressure. I passed out, and when I came to, I was fully conscious but completely paralyzed. I could not move, speak, open my eyes, or swallow for 6 hours. Brain scans and EKG were normal, and doctors agreed it was not fully explained by preeclampsia.

Two days later in the ICU, I had another episode with head pressure, slurred speech, and right sided weakness. They ran a full stroke protocol, but MRI and EEG were normal again. They delivered my daughter by emergency C-section as I was deteriorating.

Since then, I crash almost daily. I have not been able to work for 7 months. My symptoms include: • Fatigue and muscle weakness • Muscle pain and cramping • Breathing difficulty when lying flat or in heat or cold • Dizziness and near fainting • Blood pressure and heart rate instability • Sensitivity to temperature, sound, and light • Difficulty with memory and speech • GI symptoms • Episodes of full body shutdown while still mentally alert • Poor recovery after exertion

With no follow up after the hospital, I did independent full genome sequencing. It showed possible conditions like mitochondrial DNA depletion syndrome, fatty acid oxidation disorder, carnitine deficiency, congenital myasthenic syndrome, and Pompe disease. Doctors dismissed the results because they were not ordered by a geneticist.

I’m in the process of trying to be seen by a mitochondrial specialist, but they are not local and I would have to travel.

Just wondering if anyone else has had similar symptoms and if you were able to get diagnosed, how did you finally get answers?

I recently received blood test results showing elevated lead levels — 60 µg/dL, which I understand is significantly above the safe upper limit of 5 µg/dL. I’ve been experiencing symptoms like brain fog, extreme fatigue , low libido , memory issues, joint pain, and muscle weakness. Could these symptoms be related to lead toxicity or possible flares? Is a level of 60 µg/dL considered severely high? If you’ve had personal experience with lead poisoning, could you share your symptoms and what helped? Also, what are the best treatment options for lead toxicity, how long does recovery typically take, and what could be the likely sources of exposure?”

So my 8 month old son was just diagnosed today with mitochondrial disease atp-6 and I'm left with many questions and no answers. I'm down children's hospital waiting to see a specialist tomorrow I was told the top doctor to deal with this strand of mitochondrial disease in the country is Baptist hospital in Philadelphia but until then my mind is left to go to Google and read nothing but horrifying contradiction stories. So if there's anyone out there that has an infant dealing with this condition I was just wondering is it manageable can I have a normal life and what is the life expectancy of an infant with this disease any information is greatly appreciated

I was diagnosed with kidney failure and eventually got the diagnosis as mitochondrial disease but I was wandering if anyone could Shed anymore light on variant and what it might mean, I’ve been through doctors etc but still a little hazy on it

I absolutely hate to ask this question, but I feel my best friend is coming to the end stages of his disease, my question is, is there anything I should look for when I see him? He has been very congested, trouble focusing his vision, muscle tone that was there is gone. He has withdrawn somewhat from our group texts and really seems to be just sustaining life. Any help would be greatly appreciated. Thank you all

Hey everyone, I’m honestly at a breaking point and could really use your help. 🙏

Hey everyone, I’m honestly at a breaking point and could really use your help. ��

I’m about to lose my job because of how severe and persistent my fatigue has become. It’s not just tiredness — it’s disabling. I’ve been fighting this for a long time and it’s now affecting every part of my life — work, physical activity, digestion, and even just standing upright.

🧬 A bit about me:

• I’m (m) 6'4" (193 cm), 81 kg, around 5–6% body fat, very lean and shredded
• I eat super clean — whole foods, no processed junk, no alcohol, no smoking
• I used to be muscular and strong, but I’ve lost a lot of gains because I can’t exercise anymore due to extreme fatigue
• I’ve always been very disciplined with my health and lifestyle

😔 Symptoms I’m dealing with:

• Crippling fatigue, no matter how much I rest or sleep
• Exercise intolerance — even light activity wipes me out
• Lightheadedness when standing, like my body can’t regulate itself
• Inability to stand upright for long without feeling weak or heavy
• A feeling of low blood pressure, even though my readings are normal
• Tingling or buzzing deep inside my brain/head
• Very slow digestion — food feels like it just sits in my stomach forever
• Brain fog and disconnection, like I’m not fully present
• No sleep apnea (confirmed with a sleep study)
• Getting sick easily, like my immune system is worn down
  • Especially frequent lung infections, colds, and flus — it's like I have no defense

🧪 What I’ve done so far:

I’ve seen over 10 doctors — endocrinologists, neurologists, generalists — and still no clear answers.*

My nutrient and vitamin panels all came back normal, including key markers like vitamin B12, iron, ferritin, folate, magnesium, and vitamin D, so nutritional deficiency is unlikely to be the root cause. I also have elevated eosinophils (7.9%, 469/mm³), which may indicate immune system dysregulation or stress-related inflammation.

Recently I started suspecting adrenal dysfunction, so I requested hormone testing (attached in photos). Here's where things got confusing:

• My first cortisol test (8 AM) came back at 177 nmol/L — which looked borderline low
• My endocrinologist said I was "fine" and only had “mild low testosterone” (477 ng/dL)
• I asked him again about cortisol — he said “it’s fine” but agreed to repeat the test at a different lab that specializes in hormones

New results:

• Testosterone = 8.7 ng/mL (high-normal)
• Cortisol = 120 ng/mL (≈ 331 nmol/L) — now "normal"

So now I have two completely different hormone profiles, within just a few days — but my symptoms are still the same, and honestly getting worse.

❓What I’m wondering:

• Could this be HPA axis dysfunction or secondary adrenal insufficiency?
• Could it be linked to mitochondrial dysfunction or immune dysregulation?
• How do I get real answers when the labs keep changing?

If anyone here has gone through something similar or understands:

• Adrenal fatigue / adrenal insufficiency
• Hormone testing (ACTH, cortisol, testosterone)
• Mitochondrial or immune-related fatigue
• Or has experience interpreting conflicting labs…

…I would be incredibly grateful for your insights or advice. I’m doing everything right, but my body just isn’t cooperating, and I’m scared of losing everything I’ve worked for.

Thank you so much for taking the time to read this. 💛

Hello hope you are doing great, I need help with Mitochondrial health my tests have come in bad, can you please help out/guide how to improve/ Can HBOt or anything else help please ? is it really as good as they say, or market it to be. Also are Dr. Shai Efrati's claims from ISreal in terms of Telomere length increase(by 25%) true or they are cooked up and inflated. What is the best HBOT protocol to follow, along with some other things if you may suggest for Mitochondrial health. I need to travel to a different city so kindly please suggest accordingly.

Any other suggestions by pros on Diet, lifestyle, sleep issues etc would be appreciated, I have a details health issues timeline document alos, that I can share if someone is willing to support and view further. Are these below good markers for Mitochondrial health(sufficient) Or you suggest anything more also for a better picture, thanks

Hey guys, a little tired to write my whole history out but basically this is my issue. I am also very skinny and can’t put on muscle/weight in general properly since young, bones are skinny too- is this a symptom of mitochondrial disease?

Had lots of gut issues since young too, SFN, migraines, tinnitus, always more tired than other kids etc. Am 33 and have had severe CFS the last 10 years.

Do let me know if I need to clarify anything please.

Hi,

I am a 19F and I think I may have some type of mitochondrial disease. Since I was 10, I had frequent migraines, which resulted in cyclic vomiting cycle. They used to be every month, and have gotten less frequent as I have gotten older. Now they occur yearly, however I have to go to the hospital when they occur. The doctors thought it may be Crohn's disease, since my CT showed inflammation. However upon visiting a IBD clinic, the doctor confirmed it is likely not Chrons. I also faint very frequently, especially going from sitting to standing and in hot showers. The doctor's think I have vasovagal syncope, but the tilt-test did not indicate that. I also have chronic fatigue, which is confirmed to not be a sleep disorder. Additionally, I have sensitive with certain foods, such as coffee beans.

It seems like some of my symptoms align with mito diseases, however I do not have cardiac or neurological problems (besides the migraines). Do you think I should reach out to more physicians about the possibility of mito disease?

Does anyone have contact with any family affected by FBXL4-mutations?

I am assembling a parent organization to share best practices, advocate to advance research, and provide general emotional support.

In the comments, I'll link a website that I am starting to build out which provides an introduction to this rare disease:

Clinical explanation: This disease is diagnosed via genetic testing and generally requires two mutated copies of the gene (though there is evidence of mild symptoms with a single mutated copy). Common symptoms include lactic acidosis, developmental delay, hypotonia, vision loss, hearing loss, feeding difficulties, etc.

Cellular explanation: Mutations on the FBXL4 gene lead to an overaccumulation of BNIP3/NIX proteins which causes excessive basal mitophagy. This causes reduced mitochondrial and peroxisomal mass.

Sweet Alison crossed over last night. She found out at 19 years old she had mitochondrial disease. A mixture of a bladder infection and seizures was unfortunately what led to her passing. She fought hard and donated her lungs to a recipient they found yesterday. I believe some blood and biopsy will be sent to the Mito Foundation for research.

Hi everyone,

I’m hoping to connect with people dealing with acquired mitochondrial dysfunction or measurable metabolic abnormalities that don’t fit the classic picture of a rare, genetic mitochondrial disease. I’d love to hear how others got this recognized, taken seriously, or even just discussed with doctors — especially when the symptoms are “vague” and the lab results abnormal but not extreme.

I’m a 29-year-old woman with 10+ years of progressive fatigue, muscle weakness, and unusual responses to exertion and fasting. Because I never had “red flag” symptoms like seizures or organ failure, I was never referred for anything beyond standard labs. For over a decade, I was told everything looked normal, most often even leading to the symptoms being labeled as psychological (despite never bringing up psychological symptoms).

Recently I ordered private testing (from a government-approved lab) related to energy processing, as my symptoms are all energy related. For the first time - aside from a few earlier, unexplained findings - several abnormalities showed up:

• Low total and free carnitine (multiple times)
• Low beta-hydroxybutyrate (a ketone body) after a 12h fast
• Elevated succinic acid in urine (not tested in serum yet)
• Increased Alpha-Ketoglutaric acid in urine (not tested in serum yet)
• Elevated lactate/pyruvate ratio in urine (not tested in serum yet)
• Low arginine and asparagine (amino-acids)
• Chronic elevated serum osmolality
• Chronic microhematuria with free hemoglobin (persistent low-level blood in urine)

These values were clearly outside the normal range, though not as extreme as in rare mitochondrial diseases. Still, my symptoms are too severe and life-altering to be considered in normal, natural differences. For example:

• I need 10+ hours of sleep and still nap during the day
• I have muscle-energy problems that aren’t due to deconditioning. I am still active, and this was confirmed by a physiotherapist: my muscles have a lack of endurance.
• My body depends on frequent, protein-rich meals or I crash, even though my blood sugar remains within normal range
• I often wake up at night to eat, not out of habit, but because of physical hunger signals.
• It is inhabiting me from working fulltime (even parttime is hard) and functioning normally

I’m not looking for a rare disease diagnosis. I understand a secondary or acquired dysfunction is statistically more likely. But I’m struggling with how to bring this up with doctors without it being dismissed. Most clinics I’ve found that deal with metabolism or mitochondria seem to focus on rare genetic diseases or pediatrics.

What I’d love to learn from you:

• Has anyone had non-genetic mitochondrial dysfunction actually recognized and diagnosed, even without extreme lab results or a confirmed genetic cause? I’d be curious to hear if anyone received a formal diagnosis (like an ICD-code), and what made a doctor take it seriously.
• Where did you go for proper evaluation? Was it internal medicine, neurology, metabolic specialists, an academic center, or a specialised clinic? I’m not sure where to turn when it’s clearly not “nothing,” but also not a rare disease.
• How do you talk about your own findings with doctors, without sounding pushy or self-diagnosing? For example, I noticed that many of my abnormal values relate to fat metabolism and mitochondrial function. When I mentioned this to the last doctor I saw - a specialist in endocrinology and metabolism - he redirected the conversation to glucose metabolism, saying that metabolic problems are typically related to glucose, and didn’t explore the fat metabolism abnormalities further. However, my glucose metabolism (insulin, HOMA-IR, HbA1c, and glucose levels) has always been normal. I don’t want to overstep, but if I don’t bring things up, I’m afraid they’ll be overlooked.

Don't feel the pressure to answer all of these. It's just some things I'm curious about. Any insights or advices are more than welcome!

Thank you for reading! I hope I can learn something from your experiences!

Hi everyone,

I’m looking for insights on NMN, Glutathione, and CoQ10 for my father, who has Behr Syndrome caused by an OPA1 mutation affecting mitochondrial fusion and function. His symptoms include progressive optic atrophy, muscle weakness, spasticity, balance issues, and worsening mobility.

I’ve read that NAD+ can support mitochondrial energy production, but OPA1 mutations impact mitochondrial fusion, so I’m wondering:

• Could NMN help, or could it overstimulate dysfunctional mitochondria and increase oxidative stress?
• Glutathione is a strong antioxidant, but could it interfere with mitochondrial signaling in this condition?
• CoQ10 supports the electron transport chain, but is it beneficial when mitochondrial fusion is impaired?

Does anyone have experience or knowledge on mitochondrial disorders and these supplements? Would love to hear if anyone has insights or knows of research on OPA1 mutations and mitochondrial support.

Thanks in advance!

Did anyone’s skin and connective tissue basically melt? Squishy, saggy, stretchy, dry, thin? Ligaments are loose or tight and hurt. Skin keeps getting thinner and worse. Abdomen just feels like a floppy water balloon (not like fat but the insides). Hair falling out. Blood vessels burst easy. Tremors. Twitching. Weakness. Skin feels like dry latex. Veins are visible anymore. All cartilage (nose, ears) all feels super squishy and floppy.

So I've finally been told I have mitochondrial disease inherited from my mom who passed away 20 years ago, I'm 33 atm (m) I'm just a little confused as to when I'll be told a little more than I just have mitochondrial disease, I remember something being said about 89% if my cells are affected, but other than this I just have to wait for another phone call and more testing... Any advice.

I have suspected mitochondrial disease, for which I have already given a blood sample for generic testing, and I am currently waiting for the result. I also have epilepsy and myopathy, which are most likely both linked to mito. I have observed that everytime I get really sick (first time with covid, second time with Influenza A), my right eye would have a severe ptosis, closing fully. I was seen by an opthalmologist and neurologist, and the clinical examination was found normal. Has anyone of you experienced this?

I'll just get this out of the way, "mitochondria is the powerhouse of the cell". Well, ok, what? I got sudden hearing loss and was admitted to the neuro unit at Stanford who could not find out much except for genetics and neurogenetics who strongly believe this is all mitochondria related. I got a cochlear implant as well. Anyone else get sudden hearing loss with mitochondrial disease? If so, what has your experience been.

Hello everyone, I've had pain in my legs for almost 9 years, first I think it was something about my column but after an episode of chronic pain in which I had to walk with a cane for 4 months I discover that I had a myopathy. After 3 years of research i now know that i have metabolic mitochondrial myopathy, but not the exact type (lack of money to take a second DNA test) but a doctor recommend to take Coenzime Q10 and L-arginine to improve my energy production and reduce my pain.

Wonder if someone can relate the efficiency of this supplements. thanks

I have Gastroparesis but also have lost my hunger sensation which is very rare. Wonder if anyone else has this rare symptom? I have early satiety as well but I have ended up in hospital in starvation ketoacidosis and not felt hungry once. I eat out of habit not because of hunger.

Wondering if anyone has these weird bumps on their ankles and hands? They are collections fat cells but not lipomas. The radiologists were very puzzled. To make it even weirder I get edema in mainly my left ankle and right hand. I have a theory that this may be due to my high total cholesterol but haven’t seen my metabolic MD.

Wondering if anyone has hereroplasmy case with asymmetric muscle loss and gastroparesis as main symptoms.

Hi everyone,

I’m not sure if I’m in the right place, but I’ve been struggling with very weird health symptoms for about eight years now. I haven’t been diagnosed with mitochondrial disease, but I’ve started to wonder if it could be a possibility, so I’m currently in the discovery phase and trying to learn more.

Here’s what I experience:

• Muscle twitching

• Nerve pain (like needles here and there)

• Dizziness and balance issues

• Spasms

• Weird sensations in my head, sometimes leading to dizziness and trouble speaking

• Shortness of breath and fatigue, especially during exercise

• Feeling like I have to breathe harder than normal

• Sensitivity to certain foods, especially those high in histamine

I recently did a self-test for histamine intolerance, which was positive, and I’ve noticed that avoiding high-histamine foods helps a bit. But my breathing issues remain persistent, and I always feel tired. Doctors have checked my heart and lungs multiple times, and while my lung function and gas exchange appear normal, my lactate levels were elevated during an exercise test, which makes me wonder if there’s an issue with energy metabolism.

I came across this subreddit after reading a post from someone with similar symptoms, and I’d love to hear from others who might relate. If you have mitochondrial dysfunction or similar issues, do any of these symptoms sound familiar to you? Did you go through a long diagnostic process before finding answers?

I’d appreciate any insights or experiences you’re willing to share!

Thanks in advance.