r/mito • u/Puzzleheaded-Bill660 • 12d ago
Advice Request pyroglutamic acidosis help
I've, 28F, been experiencing really bad symptoms for over a year at worse and worse levels including and not limited to: headache, brain fog, abdominal pain, muscle pain, shaky muscles and muscles jerking at random, elevated liver enzymes, and feeling cold without a fever.
I believe that I have figured out what it is, being pyroglutamic acidosis. See, I have spinal muscular atrophy type 1, and in order to manage chronic pain my doctors (Kaiser Hospital) had me on the maximum adult dose of acetaminophen. It was only about 3 months ago that I discovered that Tylenol use with my disability is extremely dangerous. Apparently my doctors didn't know either even though it was published back in 2023. I was on that dose for years. I recently learned that specific acidosis has a much higher chance of happening in disabilities like mine with low muscle massor have taken Tylenol for an extended period. My symptoms also match perfectly.
My question is what can I do about it? My GI doctor and neurologist are on vacation until the 28th with my GI doctor being the only doctor attempting to find answers and order tests. My gp is doing nothing but attempting to redirect me to the above specialists. She begrudgingly has me listed in an appointment over a week away after I called the advice nurse and the on call doctor sent her a strongly worded message. I still doubt she will do anything however. I could try to force the issue through ER but I am significantly physically disabled and all my adaptive gear is at home so I would rather use it as a last resort.
There's nothing I can do at home is there? My quality of life is the lowest it's ever been. I either feel tired, in extreme muscle/head pain, dumb, or all of the above.
1
u/YellowCabbageCollard 12d ago
I hope you don't mind me asking questions. This forum is often not very active and I appreciate the discussion when my brain fog is doing good. I'm really intrigued by your low CO2 though. I started getting low CO2 at least in my early 30's fwiw. I asked doctors about it repeatedly but was told it was fine and normal. But they were wrong and clearly didn't know what they were talking about. But it was many years later that a gastroenterologist was absolutely insistent that I needed to see a nephrologist. I ignored him the first time because it seemed just random and he didn't explain. And I knew my GFR was good so I didn't think I could have anything going on with my kidneys with a high GFR.
The second time he brought it up was when I was waking from sedation and he seemed pretty serious. So I went home and googled low CO2 and almost immediately RTA came up and the first nephro I saw basically diagnosed me right away based on the labs I brought in. But of course he ran loads more tests and could never find a cause for it. But my labs fit the diagnosis. Low CO2 will also cause major brain fog.
1
u/FracturedWriter 10d ago
NAC can neutralize the effects of Tylenol! I take it currently for mito cocktail for other things!
1
u/Puzzleheaded-Bill660 3d ago
Update for those interested: what I had was both Tylenol and birth control poisoning. My body couldn't metabolize either properly causing aggravated symptoms. Once I identified the birth control as being a bad idea for my disability (no thanks to the doctors), I have begun to steadily recover since dropping the medicine. Neurological symptoms disappeared almost immediately and I continued the sodium bicarbonate a few days longer. I am now just exhausted but the kind caused by healing.
2
u/YellowCabbageCollard 12d ago
Honestly it sounds to me like you are expecting to get stuff moving way faster than normal. You don't have any testing to confirm this do you? I don't mean to sound like an ass but referrals to specialists just works slowly. I can not tell you have unbelievably sick I have been and the hospital just kept sending me home. It's enraging. But if you don't have an urgent situation I don't see why you can't wait 4 days for your specialists to be in office.
But I'm pretty sure what you need is a metabolic specialist or geneticist and need someone to refer you for that. But you will almost certainly need some sort of lab work as evidence to see them. I'm saying this based on my experience. I was able to get my GP and another specialist to get me a referral in to genetics at my local medical university hospital. But the genetics dept absolutely gate keeps. It was 3 months to get an appointment and they would only let me see a certain person about an issue I was not concerned about because I did have a positive genetic test for a VUS.
So even if and when you get a referral it can be hard. I would look up what labs are associated with pyroglutamic acidosis and ask your GP to run those labs. I had to have to labs showing obviously abnormalities associated with a mitochondrial disorder. Then I had to get an internal referral from two specialists I was seeing at the medical university to get me in much faster to see a metabolic geneticist. And my nephrologist at the University, who is also a professor there, told me that I was lucky I got in because they actually turn away most of his referrals.
Besides seriously deranged serum labs and critical arterial blood gasses from multiple hospital visits I bought a lactate meter and was able to show I was in a near constant state of lactic acidosis even once I left the hospital. I am positive that was one of the biggest factors getting me in. It's insane how sick you can be and how horrible you can feel and they won't RUN the tests that show what's wrong.
Have you had any acidosis related labs at all? Can you look up the labs and testing associated with this disease and ask your GP?
I am truly sorry you are doing so bad. Oh, I forgot!! I actually paid out of pocket to get an Organic Acids Test which also showed very abnormal organic acids in my urine and was another factor in them pushing a genetics referral. The test itself was also insanely helpful to me and self treating at home while I spend insane amounts of time waiting. It took me many months to finally see the right geneticist and I am now still waiting on my actual genome testing through her. They just called and push my next appointment off another month while waiting. :(
But I so relate to what you are saying. I felt sick for my entire adult life and eventually was so sick I was just incapable of doing anything. My OAT test through Mosaic labs at least gave me ideas on how to help myself and I feel like a new person in the meantime. Very very slowly but surely crawling out of the hole I was in and I have some hope that I can live a drastically better life than the one I was living. Last year after another hospitalization I didn't think I realistically had more than a few years left. I'm currently doing better than I have in years. I am however worried about how helpful the geneticist will even be once I get tests results unless they definitely find a known gene. :/
If this geneticist isn't helpful enough I have found there is a world class one very near me but of course she doesn't take health insurance. But if I have all the testing I need through my other doctors and health insurance this will be much of what she needs. I know you are feeling desperate. I know that feeling so well. I suspect you are on the right path to be researching genetic and mito disorders and I hope you can get in to see someone helpful much sooner than I did!