Mitochondrial Testing

[toddm1960]

My results are back from Dr Shoffner and I was positive for mitochondrial disease. Abnormal decreases in complex I and III, abnormal increases in CSF proteins, amino acids and very low levels of 5-methyltetrahydrofolate and CoQ10 in muscle. Abnormal OXPHOS enzymology. Just a few more blood tests to go now to complete the whole process. My treatment plan for right now is Tiscon CoQ10, Folinic acid, Carnitine and Creatine. It's good I've found the cause to all of this, it's too bad no doctors thought to give me a TTT or think mito could be cause. After 22 years I'd like to email these results to the 50 or so doctors that told me it's all in your head.........

[futurehope]

Hopefully, you'll now know what to take to help your body work better. I'm so glad you found something that explains your problems.

What, in particular, made you go through the trouble of contacting Dr. Shoffner to do mito testing? What convinced you this might hold an answer for you? TIA

[megan2]

Glad you have some answers. Do you know what to do in terms of treatment? I don't have a diagnosis, but I have some awesome doctors who are pretty good about treatment. There a mito "sick" formula and then a mito "chronic" formula to take every day, I have the adult dosages.

Just in case (or for others reference) they are as follows:

Recommended Treatment for Mitochondrial disorders

Supplements for Chronic Treatment:

Coenzyme Q10: 10 mg/kg/day (preferred sources: Vitaline, Tishcon)

B50 (Stoichiometric combination of: thiamine, riboflavin, niacin, pyridoxine, biotin, folate, pantothenic acid and Cobalamin)

1 tablet 2 x daily for adults and 1 tablet once daily for children

Possibly Carnitine (50-100 mg/kg/day) ? more for those with myopathy (muscle disease)

Sick formula (given at onset of infectious illness and continued for 5-10 days):

10 mg Biotin

1-2 grams Vitamin C (25 mg/kg/day sustained release divided BID sustained release or QID standard tablets)

30 mg Zinc

5-10 mg/kg/day of chelated Magnesium divided 2 x daily

200-800 mg alpha Lipoic acid (5-10 mg/kg/day divided BID)

[toddm1960]

Mitochondrial disorders should be checked as a cause for dysautonomia, just like autonomic disorders should be checked for slow motility and strong GI problems.It was my research on the internet that pointed me in the direction to push my doctors to test for me autonomic problems. Once a TTT showed I had dysautonomia I looked for possible causes one of which is mitochondrial disorders. I pushed my pcp to send me to a local geneicist, they then thought it was worth contacting Dr Schoffner who confirmed my dx. All this being said I've been on the mito formulas since March / April when I thought I could have this. I haven't seen much change in how I feel. I don't think the treatments for mito are much better then the treatments offered for POTS, I haven't found anything that doesn't make my exhaustion worse.

[ana_22]

todd....do you know what kind of blood tests you had? and whether there were any abnormalities on the blood test?

or was it just the muscle biopsy?

thanks

[toddm1960]

The muscle biopsy and cerebral spinal fluid came back with the results for a mito diagnosis. I did have alot of blood drawn but it came back unremarkable. I'm going to have a blood test now to map my mitochondrial genome, this will find the exact mito varient if it's a known one.

[Aprilmarie52]

We had the additional Gene mapping done on Gabby, but Dr. S couldnt find anything. Good luck!

[toddm1960]

I know, there are thousands of unknown varients but it's silly to not have the test at this point. The important results were for the mitochondrial diagnoses. Have you seen any improvement of symptoms on which ever mito cocktail your doctor believes in?

[Aprilmarie52]

We saw Dr. Shoffner. Gabby has Complex V mito disorder so she is on COQ10 (800 mg) and L carnitine. I have definitely noticed an improvement in her energy level, but I she is has other issues that have not been resolved by the cocktail.