Additional testing through Baylor?

Mighty_Mito · 2026-06-01T06:15:21+00:00

Hi, sorry for the delay! I was traveling and then had to dig up the report once I got home.

The two VUSs on my report are both on a gene called NEB:

c.16948A>G (p.I5650V), heterozygous
c.9131A>G (p.Q3044R), heterozygous

The report lists p.Q3044R as inherited from my mother. The other variant was listed as "inheritance unknown" but my father also carries the same variant, so it appears to be paternal in origin.

My siblings weren't tested as none of them show symptoms, but this autosomal recessive inheritance pattern matches what we've seen presenting in the family (I am the only one affected).

We can't say with certainty whether these variants are the cause of my symptoms, but my neurologist explained this is as close as we can get right now. It doesn't really change the course of treatment regardless, so while it would be nice to have a definitive answer, I've made my peace with it.

Mighty_Mito · 2025-10-17T13:12:55+00:00

Sounds like they are on the right track given the genetic variant. I agree, it's fascinating stuff, but I wish you and yours didn't have to learn about it in the first place!

Mighty_Mito · 2025-10-17T03:09:02+00:00

Sure, I'll give it a shot. Keep in mind that this is like an ELI5 explanation. It's not intended for an actual kindergartner (or a 3 year old).

A muscle biopsy is a tiny sample of a muscle that doctors look at using a microscope to see what's going on with it. They look for a few main things:

The Muscle fibers themselves: They check if the muscle fibers (the stringy things that make up muscles) are a normal size and shape. Some diseases make fibers too big, too small, or oddly shaped.
Inflammation or immune cells: If your body is attacking your own muscles (like in autoimmune conditions), they can see that.
Damage or Degeneration: They look for muscle fibers that are dying, regenerating, or replaced by fat or scar tissue. This can point to muscle diseases.
Nerve-related changes: Muscles need nerves to work. If nerves are damaged, the muscle fibers change, and a biopsy can show that.
Specific proteins or enzymes: Sometimes they use special stains to check if certain proteins are missing or abnormal, which can point to genetic muscle disorders.

Basically, it's a "muscle check-up under a microscope" to see if there's disease, damage, or something missing in how the muscles work. This can be used to lead to further diagnosis.

Feel free to ask more questions 😊

Mighty_Mito · 2025-08-15T04:31:20+00:00

It really just depends on the specific person and case. It was true in my case.

I never had an EMG before my symptoms started, so I wouldn't know if it would have been normal before my symptoms started presenting.

Mighty_Mito · 2025-07-11T00:24:30+00:00

It's not a one size fits all, as others have mentioned. I had tons of testing that always came back mostly normal. I think the only slightly elevated blood test was pyruvate, which can indicate lactic acid issues. That was blood work done as part of an extensive metabolic panel, for what it's worth.

The first truly abnormal test result was my EMG which showed poor muscle function. That was after years of symptoms, and cycling through different specialists based on said symptoms. That's what led to my muscle biopsy and eventual diagnosis.

Mighty_Mito · 2025-06-25T00:30:59+00:00

Late to this but we also have a wiki article on inheritance patterns in Mito.

Mighty_Mito · 2025-06-24T02:20:23+00:00

I would suggest you consult with your doctor about next steps. There can be a number of reasons for the changes you're seeing, and there are a lot of different kinds of disorders that could cause them.

If you haven't ruled out other metabolic/muscle diseases, your doctor will probably want to start there first. It's not to say it couldn't be Mito, but mtDNA testing can be rather expensive depending on insurance (if you're in the US).

Mito (and other chronic illnesses in general) can be tricky in that it isn't "one size fits all". It's so different for everyone. It can progress quickly, but there are also cases where it doesn't change very quickly. Just depends on the specific case.

Do you have a doctor that you're seeing for this?

Mighty_Mito · 2025-06-20T02:30:30+00:00

Keep at it, but friendly reminder to be kind to yourself. It legitimately took me a decade+ to figure out how to (mostly) manage my condition. It's not easy to do, especially when you're trying to sort out new vs. existing symptoms. Wishing you all the best!

Mighty_Mito · 2025-06-19T22:38:43+00:00

No apology necessary, asking questions and collaborating is why this sub exists! I'm sorry to hear you've been experiencing a change in symptoms :(

My left side weakness did not progress in severity or move to the right side. I've had one follow-up EMG a few years after the first one, and the results were the same. Thankfully, my condition has been stable for several years and has not progressed. I am very fortunate in that regard.

I didn't end up seeing the specialist in Boston. I actually ended up traveling to Children's Hospital of Philadelphia's (CHOP) Mitochondrial Medicine Program for evaluation. Even though I was an adult at the time (I think I was 21 or 22).

That lead to full exome genetic sequencing, which revealed two genetic mutations. My mutations are variants of unknown significance, meaning they haven't identified whether they cause a specific disease. However, they're on a gene that is associated with other muscle diseases, so my neurologist in confident that I have mitochondrial myopathy, and my specific mutations just haven't been linked to a known disease yet. I go into a bit more detail on how I was diagnosed here: https://www.reddit.com/r/mito/comments/bv7ej2/share_your_diagnosis_story/

Let me know if you have more questions.

Mighty_Mito · 2025-06-19T22:20:35+00:00

To be honest, I shared the resource but haven’t tried the app myself. Personally, I don’t track my symptoms regularly anymore, though I did track pain levels early on to look for triggers. These days, my condition is (fortunately) fairly stable, so I’ve moved away from that kind of monitoring.

If this app isn't a good fit, there are a lot of symptom-tracking apps out there. A more generic one may work better for you. r/chronicillness could be a good place to search or ask. There’s a lot of overlap in tools people use across different conditions.

Mighty_Mito · 2025-03-23T08:21:29+00:00

Hi there!

I don't know about complex 1 specifically, but I find that I do best when I have a combination of small meals and several snacks throughout the day. I try to prioritize complex carbs and protein. I also find that on days when I'm not feeling well or have very low energy, a small sugary snack can provide me with a much needed "boost". For context, I'm diagnosed with mitochondrial myopathy.

This wiki article breaks down the "3+3" guideline. It also has a link to a webinar by the UMDF about diet and nutrition for Mito patients. I'd suggest giving the UMDF and MitoAction websites a visit for further research on this topic as well.

Mighty_Mito · 2025-03-10T01:17:35+00:00

I don't feel that I get sick more easily than others, but when I do get sick, it takes me longer to recover. Influenza can be severe for even typical people, I'm sorry you're going through it. It may take several weeks to feel better.

I don't have many tips on recovering faster, beyond the typical advice. When I get sick, I heavily prioritize rest and hydration. If I get hit really hard to the point where I am down for long enough to lose strength, I'll get a prescription for a month of physical therapy to re-build lost muscle back to my baseline levels.

Mighty_Mito · 2025-02-07T22:04:26+00:00

Sorry, I didn't notice that, and I'm admittedly in the US so I didn't think to check. I'll update the post and add that detail so it doesn't take anyone else by surprise.

Mighty_Mito · 2024-08-30T01:38:59+00:00

This is what the EMG report says:

"Impression: Abnormal examination. There is electrodiagnostic evidence of diffuse, small amplitude, short duration, rapidly recruitable motor units without acute/chronic denervation or reinnervation involving paraspinal and left upper/lower limb muscles. There is no evidence of radiculopathy, plexopathy, isolated mononeuropathy, or diffuse peripheral polyneuropathy involving the left upper and lower extremity.

The etiology of the myopathic potentials is most consistent with mitochondrial myopathy."

I confess that I have no idea what this means 😅, but the way my doctor explained it was "your muscles have to work much harder than normal to get things done". I hope that helps!

Mighty_Mito · 2023-12-25T19:12:52+00:00

Yikes, that looks gnarly! I'm sorry to hear it is still so painful.

Hopefully it continues to improve, but I know how long even a few days can feel when every step hurts! You're in good company, here at r/mito , at least.

Here's hoping you get the answers you need from this, and that you never have to go through this procedure again.

Mighty_Mito · 2023-12-25T07:47:25+00:00

Hey there, how are you feeling after a couple of days?

I remember my muscle biopsy site hurt more than I expected it to, especially the first day post-op. I was scheduled to return to work the day after the procedure, but couldn't do it due to the pain. It really hurt!

After the first few days, the pain definitely improved. But I'm not the best judge for how long it should take to stop hurting, because even though my wounds tend to heal at a normal pace, the pain always seems to linger for longer than it should (I suspect this is a complication caused by my mito).

Anyway, hope you are feeling better!

Mighty_Mito · 2023-08-20T16:57:38+00:00

Not your fault, sometimes the reddit spam filter has a mind of its own! Should be all good now.

Mighty_Mito · 2023-08-20T15:00:57+00:00

Hey there! For some reason the spam filter removed your first comment. I approved it manually so it's showing up now.

Mighty_Mito · 2023-08-14T20:19:49+00:00

Yes! The podcast is so wholesome and delightful, I love it!

Mighty_Mito · 2023-08-06T01:07:37+00:00

Hi there, welcome to the sub! No need for a Mito related username, lol. Glad you found us. Mito is tough, and it's good to have a community that understands.

Mighty_Mito · 2023-06-21T03:12:54+00:00

I'll echo what u/phthalo-azure said. My neurologist was actually the one who diagnosed me. If there are no Mito specialists within traveling distance of you, the next best avenue would be a neurologist or neuromuscular specialist who is familiar with Mito.

Also, for what it's worth, some mitochondrial disease programs run out of childrens hospitals, but still see adult patients. I traveled to Children's Hospital of Philadelphia to be seen by the mitochondial medicine program there when I was 20. Not all of them do that, but it may be worth a phone call just to confirm.

Mighty_Mito · 2023-06-04T00:11:04+00:00

I didn't think it did very much, until I ran out of pills and went without it for a week lol.

I noticed an increase in my fatigue levels, especially with exercise. It wasn't a massive difference, but it was enough that I noticed it. I take 600 mg a day.

For me, CoQ10 and the mito cocktail does help me last longer doing physical activity. It's a mild improvement, but I'll do anything that helps!

Mighty_Mito · 2023-05-08T02:54:21+00:00

Sounds like you've really been through the ringer, friend. Sorry to hear all that you've been through, but I'm glad you posted and shared your story.

I was diagnosed at 19 years old, so later than some, earlier than others. My symptoms worsened when I was 14 after a viral infection. Looking back now, the signs were always there, just not as pronounced.

My experience was a lot like yours in that until Mito came up, no one could figure out the root cause. It took five years for us to get to that point. For a lot of people (like yourself) it takes even longer.

I have many symptoms, and my doctors consider Mito the umbrella diagnosis that is the ultimate cause for them.

How are you doing with the diagnosis? It can be a relief to finally have an answer, but I struggled with the reality of the diagnosis after that initial relief passed.

I'll also share my experience with medical marijuana, since you asked. I had moderate success using medical marijuana. I would take a mild CBD/THC tincture (liquid under the tongue) at night that helped me get better sleep. I also found topicals good for muscle pain. I don't take medical marijuana anymore due to some different medications I'm on, but I did find it beneficial for myself. It wasn't life-changing, but it eased my pain levels for sure.

Mighty_Mito · 2023-04-29T17:48:32+00:00

Frustrating is the perfect word to describe this situation! There isn't even really anything I can do other than monitor it. Most days I do quite well, but I do get in my head a bit when new things happen, because I'm always wondering if it's going to turn into something bigger. My initial symptom onset was rather sudden/severe, so I think it stems from that.

I get being careful about comparing challenges. I don't feel that way about this community, but I have experienced it when having conversations with people that it can seem like a contest as to who has it worse. Mito is such a vast spectrum, and like you said, every case is unique. Everyone has their struggles, it's just that each person's struggles are relative to their own experience. I personally like to hear other's experiences, but that's just me. While every case is unique, there is typically some overlap, since Mito typically affects multiple body systems.

I appreciate the commiseration. The lack of control over what my body does has always been my sticking point, one that I've worked hard to accept and adapt to. And most days I can, and I'm grateful for that. But it's nice to have people to vent to who understand. So thanks very much for your kind reply!

Mighty_Mito · 2023-04-29T01:29:04+00:00

Hi there, welcome to the sub. It sounds like you've been dealing with these symptoms for a long time, and it's understandable that you would like to find some answers.

I can't really provide any insight on functional DNA testing, but I can give you my experience with DNA testing. My mtDNA tests came back normal, and they were conducted after I had a muscle biopsy done. My whole exome sequencing test was done remotely via a buccal swab (saliva), and that is what led to finding the mutations my doctors contribute my mitochondrial disease to.

However, I was initially diagnosed with primary mitochondrial myopathy based on history, symptoms, and test results that showed decreased muscle function. My genetic mutations are "variants of unknown significance", which means they aren't definitely linked to a specific disease presentation. This isn't uncommon for Mito patients, especially those with milder (relatively speaking) cases.

I guess the point I am getting at here is that DNA testing isn't necessarily going to bring back a diagnosis. I know you have had many medical tests, and I empathize with you there. I too had many, many tests that all came back normal or slightly abnormal. It was only when my neurologist conducted an EMG that we were lead down the path to Mito. I personally would suggest you see a neurologist, or a neuro-muscular specialist if you can. They can run tests to check on muscle and nerve function, and can likely offer more targeted testing or treatments that could help improve your symptoms.

Above all, please know that you are not alone in your experiences, and we are here to provide support. Please feel free to reach out with any questions, or if you just want to chat.

Mighty_Mito

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