MTHFR Deficiency and Defective Genes (Updated 1/21 and 5/2/13)
Mutated Genes and Me ... and Maybe You?
Recently, thanks to a suggestion by a treasured friend, I found out that I have a genetic defect which results in something called MTHFR deficiency. This mutation can cause a wide range of symptoms:
MTHFR Mutations and the Conditions they Cause - from MTHFR.net, Dr. Ben Lynch's site
Symptoms of MTHFR Deficiency - from Methy-Life.com, Jaime Horne's site
Some of the symptoms include depression, addictions (smoking, drugs, and alchohol), miscarriages (my poor mother had four!), Chronic Fatigue Syndrome, chemical sensitivities, Fibromyalgia (if I recall correctly, my older sister had this), autism (I suspect I may have a relatively mild form of Asperger's), childhood cognitive development deficits, migraines, Alzheimer's, and dementia (poor Mom again!)
I have one of each of the two mutations, 677 and 1298. This is the worst combination, but either of these mutations alone can cause trouble. If you have any of the MTHFR-related symptoms, it might be a good idea to get tested. Also, if you have the mutation, your children (if any) might have it as well.
Treatment is not expensive; it basically consists of taking a special type of the various B vitamins, primarily methylated B6 and B12 and methylfolate (NOT folic acid!), as well as adjustments to the diet and other environmental factors.
However, it can be tricky to find the right vitamin balance for each person. (I'm hoping to see a doctor who has experience treating this deficiency.)
When properly treated, some of the symptoms can resolve quite quickly, sometimes in a matter of a few days or a week. Also, treatment for some conditions, such as depression, can resolve the condition without the side effects often associated with traditional drug treatments.
MTHFR.net: Read this First
If it turns out you do have one or both of these mutations, keep in mind that this is not bad news; it's really good news! It means you can get treatment and hopefully resolve some or all of any related symptoms you may have.
I Crash and BurnIn late October, on the advice of the personnel in the clinic who tested me for MTHFR, I began taking something called Methyl-Guard, but after a few weeks I developed excruciating pain and spasms in my left shoulder and upper arm. I had to stop taking the Methyl-Guard.
After a lot of massage therapy and trigger point work, my shoulder is improving. But clearly this was not the correct solution for me.
I began digging through the material on some of the sites listed above, and learned a lot more about methylation and how supplementation for the deficiency can go wrong. Sure enough, one of the symptoms of over-methylation is muscle pain.
[TBD: more detail here about how methylcobalamin is not absorbed through the stomach, so requires either sublingual form or injection - and Methyl-Guard is not sublingual. Also, Dr. Lynch insists that it's vital to start with methylcobalamin and not add methylfolate until it is established that one is tolerating the methylcobalamin and has reached a certain dosage. Also note connection between folic acid supplementation and increased cancer risk.]
My Bold ExperimentI've ordered some methylfolate and methylcobalamin, both in sublingual forms, and I plan to start experimenting myself.
Meanwhile, as a test, I took one Methyl-Guard (which has both methylfolate and methylcobalamin) on Sunday morning. I had a lot of pain and spasms later in the day, but I also had much better energy that afternoon and evening, lasting through yesterday evening. Today I'm okay, better than usual, but definitely not as good as yesterday.
So I think I definitely need the methyl B's, but I have to figure out how much of each. Maybe I can do this myself, and skip the expensive and time- and energy-consuming visits to doctors. That's why I ordered the methyls.
BTW, if you are interested in learning more about the MTHFR gene mutation and how to treat them, here are the sites I've been using:
Metnyl-Life - Jaime Horne's site
NW Healthcare: MTHFR - Dr. Steve Smith's site
MTHFR.net - Dr. Ben Lynch's site
There is a lot of MTHFR info on both of these sites. I loved the video by Jaime Horne, the woman who runs the Methyl-Life site. (The video is right on the main page.) I think this is a good place to start.
The MTHFR and Fibromyalgia talk by Dr Stephen Smith explains more about the condition, and is a good place to start for an overview of MTHFR diagnosis and treatment. I loved this video too. The discussion and video on Dr. Smith's web site is an excellent next step.
I also found Dr. Smith's mind map to be quite interesting: MTHFR Related Health Problems
For a more in depth understanding, there is a long and detailed video discussion of MTHFR diagnosis and treatment by Ben Lynch on his main page. He also suggests watching some other videos (see his web site and many other resources on my new MTHFR Resources page.)
While watching Dr. Smith's videos, I felt like he could have been talking about me. Fine for many years, but then when subjected to a major stressor (two in my case) the toxins that had been quietly accumulating suddenly overwhelmed my immune system, ruining my health. And unless the genetic deficiency is addressed with the right methylated B vitamins, there's nothing to make the body recover.
My gut is telling me that addressing my own methylated B vitamin and resulting glutathione deficiencies is key to my recovery.
MTHFR and Coiling to Kill PathogensThere is a lot more info on Dr. Smith's site, and many pages on Dr Lynch's site and on Jaime's site as well. I feel like I have just scratched the surface, and there is a whole lot more to learn.
However, I am very excited about this, and the possibility that finding the right dosages of the methyl B's for myself might help me improve more quickly. I found Dr Smith's discussions of how the MTHFR defect causes glutathione deficiency to be particularly exciting because glutathione is key in the disposal of toxins, and toxin elimination has been the limiting factor for me in killing Lyme and coinfections. I've had to progress very slowly to keep the herxing to a tolerable level.
If I can improve my body's toxin disposal mechanisms, that will allow me to be more aggressive with the coil machine in killing the pathogens. Also, if I can purge the toxins more quickly, the herxes may turn out to be less confusing, and more useful as feedback and therefore a better diagnostic tool.
I'm going to see if I can get someone to draw blood to test me for a glutathione deficiency. Since the body needs the methyl B vitamins to make glutathione, if this is low, that will further confirm that MTHFR deficiency is a problem for me.
Also, if I can find an MTHFR-literate doctor near me who is seeing new patients, I'll book an appointment, but meanwhile I'm not going to just sit around waiting for someone to have an opening in their schedule!
I am going to work very hard to figure this out for myself. I can't wait for the supplements to get here!
Update, 1/21/13I wasn't able to find any of the supplements I needed locally, so I had to order everything online. The first shipment, 1000 mcg Jarrow Sublingual Methyl B-12 (methylcobalamin) arrived on January 9. I immediately took one tablet, and another later in the day.
I quickly found that two milligrams in the space of a few hours was too much for me right now. The first tablet gave me a noticeable increase in energy and mental clarity within an hour or two, but a second tablet a few hours later made me hyper and prone to anger.
After some experimenting, I have settled on one 1000 mcg tablet of methyl B-12 after waking, followed every 3 or 4 hours by a 500 mcg tablet (also Jarrow sublingual).
I also took 50 mg of niacin (a 100 mg tablet cut in half) twice a day for a while, to help deplete the excess methyl B-9 (methylfolate) from the high dosage of Methyl-Guard which I took in December, and which I suspect caused the pain and spasms in my left shoulder and upper arm. These symptoms have diminished significantly since I started this regime.
After several days of two 50 mg doses of niacin, I tried taking a 100 mg tablet whole. This was followed by a very strong "flush" - a pretty intense sensation of burning or prickly needles on my forehead, the top of my head, and down both arms. I figured this meant I'd cleared the excess methylfolate, so I stopped taking the niacin.
I've also been taking fish oil to help reduce the inflammation in my arm and shoulder (and also in my back and right foot, and elsewhere in my body). A couple of days ago I started taking two 500 mg capsules of turmeric with Meriva (a more bioavailable form of curcumin) for the same reason. The pain and inflammation is significantly reduced, but not gone.
Ben Lynch says that methylfolate will aggravate any inflammation, so while I am eager to start taking it, I am going to be patient and hold off until I have gotten rid of all the existing pain and soreness.
There has been a clear improvement in my condition in the past 10 days. I have had a couple of crashes after being out and about too long, but the crashes have lasted only one day rather than the more typical several days to a week. Overall, compared to the last few months of 2012, I have more energy and better cognition, and much less pain than in December (but more than I had prior to starting the Methyl-Guard on October 26).
To put things in perspective, this past weekend I completed a small project which involved making two hacksaw cuts through 3/4" aluminum angle, drilling 14 small holes in the aluminum, and lifting a 7 lb monitor to shoulder height.
This took me two days, and left me quite tired, but a few weeks ago - and for most of the last couple of years - a project like this would have been impossible for me. In December I had to ask my brother and nephew to help me with a similar but smaller project; I wasn't able to make even a single hacksaw cut or drill any holes.
So the progress so far has been encouraging. I'm actually quite excited, but trying to be careful not to let my hopes get too high because I've had short term improvements from many different medicines and supplements in the past, only to have my body fall back to its previous level of ill health or worse.
The real test will be to see how I do over the next several months. If by spring I am able to go for 5 to 10 minute walks every day or every other day without crashing, then I will know I am making real progress.
Coiling for Babesia and LymeWhile all this was going on I have continued to coil for Babesia every second or third day, holding the coil over my liver and increasing by 30 seconds each time. I did not notice significant herxing from this in recent weeks.
On January 10 I reached 10 minutes, so on 1/15 I did 10 minutes on my liver again and added 2 minutes on each of 15 points around my body and extremities, including a new point over my sternum. This was followed by a pretty nasty headache a few hours later, which diminished slowly over the next couple of days. On 1/18 I repeated this, and again developed a headache, although less severe and of shorter duration.
From this I'm assuming that I did have Babesia and that I am cleaning out the last of it from my bone marrow and sternum. I'm hoping that my methyl B-12 regime is helping my body clear the toxins from the dead little Babs bugs more rapidly than it would have been able to before.
I've also reduced the interval between my Lyme sessions (432 Hz for 33 minutes, 5 minutes on abdomen and 2 minutes on each of 14 points) from 14 days to ten. That seems to have actually helped reduce the herxing from these sessions. Next month I plan to further reduce the interval to 7 days.
Update, May 2After a lot of experimentation, I have found that right now the highest dose of methylcobolamin (B-12) that I can tolerate is 500 mcg per day. This is hugely less than the 5000 mcg recommended by Dr. Ben and others, but if I take any more than 500 mcg, the pain and cramping in my upper arms and shoulders gets too intense. Also I get pain in my feet, knees, and lower back.
A few weeks ago I started on small doses of methylfolate, and I am now up to 400 mcg per day. After I started this I developed a fair amount of pain in my teeth, oddly, but now that has pretty much subsided. This is also far less than the recommended dosage, but for now it's all I can handle.
Hopefully as my body adapts to a reactivated methylation pathway, I will be able to increase my intake of both methylcobolamin and methylfolate.
During some research into vitamin deficiencies which might cause pain and muscle spasms, I learned that repletion of B-12 after long-term deficiency can cause potassium deficiency because as B-12 is restored, the body starts making more blood cells, and this process uses up potassium. So I have started taking a lot of potassium in various forms, and I have noticed a significant improvement in the muscle pain and spasms.
I'm now coiling for Babesia for 40 minutes three times a week, and for Lyme for 33 minutes every week. Sometimes I have symptom peaks that appear to be herxes from these sessions, but generally these harsher symptoms resolve within a few days.
Note: The above post is a work in progress. Most of this page consists of extracts from two emails I wrote recently to family and friends. I originally planned to reorganize it and clean it up, and add some followup thoughts, but I wanted to get this MTHFR information up as soon as possible in case any of my readers might find it useful.