mitochondrial disorder?

realisticdreams

We had spina bifida clinic today and all of our docs there have been in contact with the new neuro doc we saw last month. They mentioned basically that the differential diagnosis they are ruling in or out is a mito disorder. I don't know a lot about that..are they degenerative? Any help appreciated. We see rheumatology next week.

mightmom13

Ahh, mito....with so many specialists involved it does not surprise me that they may be looking toward this as a cause for all the medical issues.

Essentially mitochondrial disease is a genetic mutation of the mitochondrial DNA or the mitochondria IN the nuclear DNA (one or both) that causes manifestations which are the resulting disease processes - the diseases can be looked at as a side effect of mito if you will. You can be pretty mild like myself with metabolic and neurological effects, yet still with work and treatment, lead a fairly normal lifestyle - though still tire easily and show outward symptoms to the outside world....or be very severely impaired, depending on how much of the DNA is affected.

As far as degenerative, mito in and of itself is what it is as it began, the way it manifests in different disease processes and how many/what/where cells are affected are where degenerative or not and how much come into play. I can tell you that I had a major illness resulting in regression around 1.5-2 years then a relapse during puberty - followed by another relapse after my pregnancy was over.

Here is a great resource website: www.umdf.org

Also, seeing genetics and/or biomedical specialist/clinic (clinics are the best and can often be found in children's or teaching hospital systems) is a great place to start. As far as a specific diagnosis of what mito type you are dealing with - I suggest you come to terms with not knowing that now; I still don't know for me - only my manifestations if you will and I won't ever know exactly with my daughter as it can mutate even a single generation down. Also from umdf: "In addition, a single blood or urine lab test with normal results does not rule out a mitochondrial disease. This is true for organic acids, lactic acid, carnitine analysis and amino acid analysis. Even muscle biopsies are not 100% accurate."

I had a muscle biopsy when I was little - we are still searching for the exact results from 1983; my genetic doc said he would not put me or DD through that again, my original doc has since passed away.

The good news is 1) all mito can be treated the same way for it's basic form with shown improvement and 2) once the manifestations or resulting disease processes are found, you can treat those symptoms as well.

Reply back or PM with any questions - I still have some myself of course, and try not to delve too deep - hard I know, but treating the symptoms is the most important part along with (if they strongly suspect/suggest mito) treating the mito in it's general form.

mightmom13

Going off of that here is the "mito cocktail" list:

https://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934635

Basic list towards the bottom. DD and I are on L-carnatine or actyl carnatine as well - I take B2, no CoQ for now per MD, more research for our bodies.

realisticdreams

Thank you so much, i'm a little less scared now.  The group of docs we see are pretty good, they said a family came down last week who has mito issue and scheduled appts with all of them in the same day.  She said they came from Ohio and I know Ohio has mito docs so that makes me feel better as well.  Just kind of came out of left field.  The labs DD1 has had so far have all been normal, although neuro is going to run more while she is sedated for her EMG testing in late March.  

I have a bunch of random medical issues too, lets go off memory here (classic migraines, with aura and left sided numbness, PCOS, interstitial cystitis, Sinus Tachycardia with some atrial tach & SVT thrown in, lots of PVC & PACs, major stomach issues, crohns disease, asthma, I get random infections alot, i'm 27, and i've had gout & shingles 3x, amblyopia, near sited & far sited (in each eye) and astigmatism in both, my thyroid is hyperactive on/off, I'm tired alot and have pretty bad 'regular headaches' everyday.  Recently started having a lot of joint pain (hips, knees, ankles, but i'm not hypermobile), and i'm sure i'm missing some lol.  I typically don't have time to deal with my issues because of the girls.  

How do you guys give this cocktail to your little ones?  The geneticist didn't mention mito at all, it's the new neuro who suspects it.  The genetics says she meets the criteria for ehler danlos syndrome but wanted us to have a full workup for any other cause of her pain, etc. before allowing everyone to use that as the excuse.

mightmom13

DD take her acytl-carnatine via liquid compound an just sucks on the syringe - she is 2.5 y/o.

I take mine in pill fom but it can be easily crushed how I get it from pharmacy. The B-2 is a little bit rougher as it is an intense smelling one and is 100 mg for me. Also, even though you can get them at a GNC or supplement store - a script is usually covered at cheaper cost.

Also if you wanted to for now even try a B -complex vitamin for either one of you, check with even your reg doc and it might start improving energy and muscle energy - again check with your doc first.

Also, mito isn't a write off so don't let docs use that to not treat a symptom, I have heard that line before too. It is not understood so they assume the doc who originally said mito will cover all bases.