I’ve been reading about the “Glutathione Depletion – Methylation Cycle Block Pathogenesis Hypothesis for CFS” since forever, it seems, and finally did the MTHFR test. Result: a homozygous mutation in the C677T gene (two copies of the C677T mutation) as well as a deficient status for glutathione. Now the question: where do I go from here?
Dr. Thomsen’s Approach
Whatever Dr. Thomsen said it all boiled down to a dysfunctional detoxification system. She had the most complicated approach
I returned to Dr. Kate Thomsen in Pennington, NJ, for the actual testing. Dr. Thomsen, an MD who specializes in women’s health, is board certified in Integrative and Holistic Medicine and practices “functional medicine.” With a background in chemistry, she is incredibly knowledgeable about biochemical processes and used most of my hour with her diagramming and explaining various molecular reactions and transformations involved in the methylation cycle and their functions in my body. I nodded a lot; I understood some stuff momentarily but retain little. All the circles and arrows apparently described the very complicated process of detoxification which is screwed up because of my dysfunctional gene and glutathione depletion.
Her protocol includes oral supplementation with methylated folate and B vitamins, L Carnitine with Pantothenic Acid, a variety of vitamins and minerals, and glutathione, along with IV infusions of Glutathione, Methyl B 12, Folinic Acid and Phosphatidyl Choline. (That’s a funny word – phosphatidyl. Sounds like something I would name my cat.)
Dr. Thomsen is not, however, an ME/CFS expert. When I explained the warnings offered by Rich Van Konynenburg about the possible excessive die-off response and certain adverse effects in people with ME/CFS, she was not only unaware but skeptical. And her response, in turn, made me skeptical. She did agree that the IV infusions could be limited, small and “gentle.”
Dr. Rey’s Approach
There’s Dr. Irma Rey’s simpler approach
Dr. Irma Rey at the Neuro Immune Institute in Florida has a much simpler approach. When she learned of my MTHFR mutation, she told me to take 400 mcg of Methyl L Folate and 500 mcg of Methyl Cobalamin (B12) daily. That’s it. And though Dr. Rey is the ME/CFS expert, she didn’t anticipate any die-off problems either.
Rich Van Konyenburg’s Approach
Then there’s Rich’s approach.
The simplified treatment developed from Amy Yasko’s program for autistic children by Rich Van Konynenburg (and Dr. Sarah Myhill) seems not so simplified. It’s more like Dr. Thomsen’s, with variations on the names, doses, and combinations:
- ¼ tablet (200 mcg) Actifolate (5 methyl tetrahydrofolate )
- ¼ tablet Instrinsic B12/folate
- folic acid, 5 methyl tetrahydrofolate and 5-formyl tetrahydrofolate, 125 mcg B12, 22.5 mg calcium, 17.25 mg phosphorus, 5 mg intrinsic factor
- ¼ tablet General Vitamin Neurological Health Formula
- multi-vitamin/multi-mineral
- 1 softgel capsule Phosphatidyl Serine Complex (Vitamin Discount Center)
- Activated B12 Guard 2000 mcg hydrocobalamin
His Health Rising article emphasizes the importance of starting this treatment very slowly, perhaps with one supplement at a time in decreased dosages, and only under the supervision of a licensed physician. (I wonder how easy it would be to find a physician who would be knowledgeable and comfortable enough with this treatment to supervise it. )
Choices, choices, choices
So whose plan do I follow?
As someone who has jumped into the most bizarre treatments in my checkered ME/CFS past, I am not looking for complicated exhausting procedures that eat into your life and make it nearly impossible to know what is having which effect. I’ve decided to take action here only because none of the above regimens seem to require massive amounts of time and/or energy.
I also don’t believe for one minute that this genetic mutation is THE CAUSE of my disease. I suspect, however, that it contributed and continues to contribute to my inability to deal with infections, stress, hormonal fluctuations, mitochondrial damage, etc. , etc.
So I am allowing myself to accept that supplements might promote better detoxing and therefore a better sense of well-being. Is that crazy after all these years?
I’ve chosen Dr. Rey’s very abbreviated approach to start, and have begun the methyl –l-folate. Soon I’ll add the methyl-cobalamin. And we’ll see where I go from there.
Dante – no one described misery better…
In the meantime, I have stopped taking Low Dose Naltrexone, which I tried again after my Florida visit in July. Even in VERY low diluted doses taken in the morning, my sleep gets messed up. When I first started it a few years ago, I found it took hours for me to fall asleep. More recently, I began waking up 3 or 4 times each night. Both times the problems stopped after I ditched the LDN. I’ve also been experiencing unusual headaches, which I (sort of, with no evidence) suspect might be the result of LDN.
Ouch. All this mystery. Is it ironic that I’m now reading Dante’s Inferno — and in my worst days can relate to the plight of the shades trapped in a hideous ditch in the Eighth Circle who keep sticking their noses out of the boiling tar seeking to alleviate their pain?
Okay, I apologize for the hyperbole, but I couldn’t resist.
I guess all this is to say that I’m still on the lookout for some help, in spite of my “advanced age” of 71, though there are definite limits as to the stress I’ll accept in any treatment.
Health Rising’s September Drive – Carol Leflet’s 20-plus “Chronic Fatigue Syndrome Chronicle’ blog series on Health Rising has uniquely documented the challenges ME/CFS patients face. From her blogs on “crashing”, to when to turn off our “addiction for a cure”, to the challenges older people with ME/CFS face, Carol’s blogs have opened up fruitful and important discussions for people with ME/CFS and/or FM. They are another reason to keep this website healthy Please support Health Rising in its $5 a month recurring donation drive.
Can’t taking methylfolate with insufficient cobalamin allegedly cause a so-called “methyl trap?” I would start by first taking sufficient B12 before adding methylfolate, but that’s just my preference and bias.
“I wonder how easy it would be to find a physician who would be knowledgeable and comfortable enough with this treatment to supervise it. )”
Dr Nancy Mullan is well versed in Dr Amy Yaskos protocol. I am having consultations with her for my daughter who has been bedbound for 4 years with severe ME. She was recommended to me by a patient of hers ( along with many others on Yasko forum) who is recovering afte 3 years bedbound. I am very pleased with her work and caring attitude.
Hi carol, I am also c677t homozygous. I agree with jrez – mthf is best added after b12. I went thru this same process and found Dr Amy Yasko’s simplified methylation protocol the best balance between detail, effectiveness and simplicity. I made up a dot point step by step from the document, where I tick off each item as I get it in place.
http://www.scribd.com/mobile/doc/132017201
Tested positive for homozygous C77t also and I take Homocystex Plus from Seeking Health- Dr Ben Lynch. In the beginning I separated the methylcobalmin and methylfolate because I found after a few days on the larger doses in the Homocytex I felt worse. So the advice to start slowly and increase slowly is good advice. Also it does seem to be best to start with the Methylcobalamin first. Available from several places including life extension in sublingual tabs. Once I could take the Homocystex Plus with ease I increased it to two a day for awhile but not just take one capsule a day which covers the basics.
I agree MTHFR does not seem to be the cause of ME.CFS but it probably contributes too it a lot primarily through the lack of Glutathione a major immune anti-oxidant.
MTHFR is probably one important piece of the puzzle for many of us. If you read more about it and go slowly you can do it yourself if necessary.
Just having MTHFR checked is not enough. You need to see if there are other mutations in other genes before you treat this one. Going low and slow us the best advice. I had to start treating a Different mutation first and make a diet change. You need to know where the issues lie or you could make yourself sicker. If you don’t do this in the proper order, it could go much worse instead of better.
I have learned a lot from Dr. Mullens free webinars each week. Worth signing up for.
Issie
Great to read such a frank blog from Carol – I think she’s spot-on in only considering treatments that cost minimal ‘spoons’ to implement. Sometimes it’s important to listen to ‘experts’ – but only WE know what it’s like to live our own bodies; what we can handle and what we can’t.
Where is Dr. Mullins practice?
Simple is always better and slower is the only way for me to go.
Thank you for a good blog. I will always listen to Issie!!!!!
Carole
Thanks Carole, I appreciate your vote of confidence. 🙂
You can do gene testing through 23&me and download your raw data to get your mutations. It takes a lot of study and research. Dr. Amy and Dr. Mullan can also interpret your data and guide you.
Issie
Just beginning to learn about MTHFR & methylation protocols.
Would like to know where to find Dr. Nancy Mullans/Mullens/Mullins webinars… link?
Thanks all.
I have explored this and found that is so much more complicated that the two methyl genes. You have to get the whole picture by doing the 23 and me test, and then uploading it to the MTHFR websites to find out all of the defects. Working with someone that knows this stuff like Nancy Mullan, MD (in LA), Amy Yasko, or Ben Lynch would be helpful. Many websites on this like MTHFRsupport.com.
Everyone with FM, CFS/ME needs to explore this. Thanks for posting.
DITTO! All of those docs seem to have very valuable info.
Issie
I’ve had ME/CFS for over 25 years and just recently found out that I have the MTHFR gene defect. My ME/CFS physician has me taking Vessel Health Guard, methylcobalamin (2000 mg per day) and methylfolate. I’ve been taking these for over 6 months now and honestly don’t see any direct impact on my CFS. But if these supplements can help my body detoxify and prevent other illness, I’ll continue taking them. Also, I take other many supplements including L Carnitine and Pantothenic Acid.
I’ve been lucky enough to have found good CFS physicians and care early on and I’m able to manage it pretty well. I’d be happy to share the protocol I follow or any other info.
Greetings,
I would like to hear about anything that worked for ME/CFS. Please do share the protocol that worked for you.
So far, Hepapressin Injections from Dr Enlander, LDN and Homocystex Plus for MTHFR have helped me the most. That and pacing of course…..
Peace, Love and Harmony,
OM
I’ve followed this protocol since taking the Organic Acids test which showed methylation pathways not working properly so am taking now methylated B vitamins and Carnitine.
I’m finding your blog posts helpful. Wondering how the modified methylation protocol worked for you and how you are doing now. All the best
Carol, Just wondering how you are doing now since starting Dr. Rey’s protocol and do you continue to see Dr. Rey? I am taking my adult daughter to Dr. Rey on January 2, 2020.