MTHFR mutation?

[Jean in Newcastle]

Anyone been diagnosed with this? What led to the diagnosis? Were any tests done and how expensive were they? What treatment was proposed and has it made a difference in your life at all? Any side effects?

[CAMom]

Hi Jean,

 

You're talking about MTHFR clotting disorder, right?

 

My dh and my two older kids have the mutation. My little guy might but hasn't been tested yet. Dh and the olders also have Factor V Leiden.

 

They were diagnosed by simple blood test. We did have some struggle with the payment of the test because they were coded as fertility testing. I was tested at the same time (I'll explain in a second). We refused to pay for fertility testing because 1) my dd was 9 when she was tested :confused: 2) I was about 7 months pregnant at the time. Why would dh and I be getting fertility tested? :tongue_smilie:

 

The test was expensive coded that way.

 

We were all tested because we had a daughter who was born with a serious heart defect (she passed away at 6 weeks old). At one point they had to put a brachial line in at her groin and she developed a blood clot so they did some testing on her. They found three clotting disorders that are all genetic coming from parents. So, we were all tested and dh had two of them and I had one.

 

Dh and the kids have not had any treatment as of now. The drs have always just said we need to pay attention to clotting risks and we'll consider treatment if one of them shows a need.

 

That's about it. :)

[Spryte]

Anyone been diagnosed with this?

 

I have.

 

What led to the diagnosis?

 

My health history is complex (as is yours, I think?) so I'm not sure which part of it to point to as the causal reason for my doc's decision to test. In a nutshell... I have CFS, FM, migraines as remaining "symptoms" after long-term treatment for infections. The treatment for the long-term infections was torturous, and doc suspected I am a poor detoxer, that I lack the specific pathways in my liver to detox certain meds. Rifampin nearly killed me, for one. That, plus more, led to the decision to test. Plus her continual research into patients like me. :)

 

Were any tests done and how expensive were they?

 

Yes, bloodwork. She tested through a lab, and she *does* often use specialty labs. That particular test... I cannot recall if she used a specialty lab that was not covered by my insurance. Sorry. If you need more info on it, though, I will look through my records and find out who ran the test and how much it cost.

 

What treatment was proposed and has it made a difference in your life at all? Any side effects?

 

I supplemented with a prescription form of folic acid daily, to help prevent future cardiac issues. Per doc's instructions, I take a *ton* of daily supplements though, and I'm not sure which are specific to the mutation. No side effects while supplementing. Hard to tell how much of a difference it made, as I am dealing with a lot of issues (more than listed above, those are just the issues I hope to resolve with continued treatment).

 

I am no longer supplementing, as we had to choose between 2 evils, essentially. Supplementing the folic acid for the mutation or continuing to supplement while I am in treatment for protomyxzoa rheumatica, which is fed in part by folic acid. We opted to stop the supplements till the protozoa is under control, because if the protozoa isn't treated, well, the cardiac issues down the road won't matter much.

 

I also have hypercoagulation issues, and those are related, I think, to the mutation. That testing was through a specialty lab, and ran about $350, if I remember correctly. For that, I take a prescription form of Niacin, along with various supplements. The hope, per my doc, is that treating this will help with fatigue, GI issues, and migraines. The jury's out on that one still, haven't been treating long enough to tell.

 

I believe Pyroluria is also related to the mutation?

 

As for the poor detox issues - I have a list of drugs that I can not take, all related to the pathway in the liver that I don't detox. I am not positive those are linked to the mutation, but I learned about those at the same time and they seem to be related, so anyone with the mutation might want to keep an eye out for poor medication tolerance, too.

 

Not sure if any of this is helpful. Hope so.

Edited October 16, 2012 by Spryte

[mommy5]

Anyone been diagnosed with this?

 

I have.

 

What led to the diagnosis?

 

My health history is complex (as is yours, I think?) so I'm not sure which part of it to point to as the causal reason for my doc's decision to test. In a nutshell... I have CFS, FM, migraines as remaining "symptoms" after long-term treatment for infections. The treatment for the long-term infections was torturous, and doc suspected I am a poor detoxer, that I lack the specific pathways in my liver to detox certain meds. Rifampin nearly killed me, for one. That, plus more, led to the decision to test. Plus her continual research into patients like me. :)

 

Were any tests done and how expensive were they?

 

Yes, bloodwork. She tested through a lab, and she *does* often use specialty labs. That particular test... I cannot recall if she used a specialty lab that was not covered by my insurance. Sorry. If you need more info on it, though, I will look through my records and find out who ran the test and how much it cost.

 

What treatment was proposed and has it made a difference in your life at all? Any side effects?

 

I supplemented with a prescription form of folic acid daily, to help prevent future cardiac issues. Per doc's instructions, I take a *ton* of daily supplements though, and I'm not sure which are specific to the mutation. No side effects while supplementing. Hard to tell how much of a difference it made, as I am dealing with a lot of issues (more than listed above, those are just the issues I hope to resolve with continued treatment).

 

I am no longer supplementing, as we had to choose between 2 evils, essentially. Supplementing the folic acid for the mutation or continuing to supplement while I am in treatment for protomyxzoa rheumatica, which is fed in part by folic acid. We opted to stop the supplements till the protozoa is under control, because if the protozoa isn't treated, well, the cardiac issues down the road won't matter much.

 

I also have hypercoagulation issues, and those are related, I think, to the mutation. That testing was through a specialty lab, and ran about $350, if I remember correctly. For that, I take a prescription form of Niacin, along with various supplements. The hope, per my doc, is that treating this will help with fatigue, GI issues, and migraines. The jury's out on that one still, haven't been treating long enough to tell.

 

I believe Pyroluria is also related to the mutation?

 

As for the poor detox issues - I have a list of drugs that I can not take, all related to the pathway in the liver that I don't detox. I am not positive those are linked to the mutation, but I learned about those at the same time and they seem to be related, so anyone with the mutation might want to keep an eye out for poor medication tolerance, too.

 

Not sure if any of this is helpful. Hope so.

 

Spryte ... I'm curious if you have problems with any specific food/food groups? Do you have to have a strict diet or can you eat freely? Some of what you said resonates with things I've been dealing with ... haven't been tested for that, yet, though...

[Spryte]

Spryte ... I'm curious if you have problems with any specific food/food groups? Do you have to have a strict diet or can you eat freely? Some of what you said resonates with things I've been dealing with ... haven't been tested for that, yet, though...

 

No gluten - instant GI issues there. Doc usually wants me on a Mediterranean type diet, lots of veggies, very little meat. No wheat (obviously), but even if I tolerated gluten, she'd say no wheat due to GMO issues. No GMO corn. Mostly organic veggies and fruits. No sugar. No eggs or spinach after testing showed issues there.

 

At the moment, because of the protozoa we're treating, I'm supposed to consume no more than 15 gms of fat per day. That is harder than it sounds.

 

Can't say I do all of it, all the time though. :o

[Jean in Newcastle]

Interesting. My new naturopathic doctor (who I"m not sure I'll be continuing with) said that since there is a correlation between MTHFR and fibromyalgia, that she'll just assume I have it and treat me for it. She said the test was expensive that it was easier to just assume I had it. I have never had any clotting issues that I know of. My heart is very healthy. I am very sensitive to chemicals and have had trouble with my liver and with detoxing. She put me on a supplement called "Methyl Guard" and told me to eat a gluten free diet.

 

Because she put me on these new supplements/diet when I was already having some acute problems (severe pain in wrists and ankles, feet so swollen that I could hardly walk and high blood pressure), I don't know if subsequent problems I had were related to the new supplement or just a continuation of whatever was/is giving me the acute problems. I feel better after discontinuing the supplement but I am also now on a diuretic and that I know is making me feel better.

 

I'm trying to figure out if I should talk to my regular M.D. about the MTHFR thing or if it is really something I should even pursue. I am continuing on the gluten free diet because it is basically an anti-inflammatory diet and I know that is good for me anyway.

[Jean in Newcastle]

I looked up previous lab tests and my folate levels were completely normal. Wouldn't they be off if I had this?

[Bang!Zoom!]

There are several video presentations on this condition on the net; my naturopath is well versed in the condition also. My particular type interferes with the process of B vitamins.

 

There are several forums on the net which are dedicated to MTHFR and the gabillion and a half associated expressions it can take. Everything from mental illness, to addiction, to pregnancy difficulties.

 

I did not find that generalized MD's pay much attention to this, and it's more of a issue when going to naturopathic doctors. There can be a huge gap of professional respect between the two specialties.

 

I don't know that laying this on the plate of a MD is going to get you very far. YMMV.

[Spryte]

I have never had any clotting issues that I know of. My heart is very healthy. I am very sensitive to chemicals and have had trouble with my liver and with detoxing.

 

That part of your post applies to me, as well. No visible signs of clotting issues, heart is relatively healthy (I do have a valve issue, not related to MTHFR). Chemical sensitivity and liver/detox issues.

 

I have heard of Methyl Guard, but don't know what's in it. Is it possible that it contains some anti-viral or anti-bacterial components? Do you know if you have a high viral load? I do, and treating for the hypercoagulation includes some viral treatment components... because of that, I will likely feel worse for a month or so. As the viruses die off, they give off toxins etc, which make one's immune system go into overdrive, as well as needing to be detoxed. Makes the inflammation worse, along with general fluish feelings.

 

Just a thought about why you might have felt worse, then better when you discontinued the supplement. It might be totally unrelated to a viral load, of course.

 

 

ETA: I don't know that your folate levels would be off, necessarily. I think the supplementing is not to address a deficiency (I don't recall my levels being off either) as much as to supplement to somehow help prevent future cardiac issues due to the mutation.

 

I'm not sure I'd want to treat just based on a hunch, either, though. How much is the test the naturopath mentioned? Is it prohibitive? What about exploring other options first?

Edited October 16, 2012 by Spryte

[Bang!Zoom!]

This is a forum dedicated to talking about it, very good stuff here.

 

http://mthfr.proboards.com/index.cgi

[Jean in Newcastle]

There are several video presentations on this condition on the net; my naturopath is well versed in the condition also. My particular type interferes with the process of B vitamins.

 

There are several forums on the net which are dedicated to MTHFR and the gabillion and a half associated expressions it can take. Everything from mental illness, to addiction, to pregnancy difficulties.

 

I did not find that generalized MD's pay much attention to this, and it's more of a issue when going to naturopathic doctors. There can be a huge gap of professional respect between the two specialties.

 

I don't know that laying this on the plate of a MD is going to get you very far. YMMV.

 

I've been looking at the forums. So far, not much seems to apply to me other than my fatigue. (I had trouble getting pregnant at first due to not ovulating but once my body was kick-started into ovulating, I did not have any problems with my pregnancies.)

 

Yes, I've come face to face with the lack of respect on both sides.

 

I'm a bit angry at the naturopathic doctor at the moment. I don't like the "lets try this random treatment and see if it works" approach. I've been trying random treatments for over 20 years and have actually had some harm come of it.

 

I can push the N.D. to actually test for the mutation - are there different tests for different kinds?

[Bang!Zoom!]

Jean, I'm just going to be honest and tell you this straight up. My opinion/experience with it was sort of like the "latest hot poster child" of naturopathic investigation. Don't get me wrong here, it's a real condition, a huge percent of the population is carrying it, it is able to appear under lab tests..but I eventually stopped with the "treatment" and just went to right off the shelf high dose vitamin B and cleaned up my diet.

 

I know that for others the diagnosis is life changing, etc., and it's the best thing since sliced bread.

 

For me, personally, I'm a bit soured on it as a path of "what's wrong with me?" - it turned out to be a burn out from Ciprofloxin, and it took me over a year to readjust my system from that med.

 

My guess is this. If you go and plunk down the cash for the MTHFR test, they are going to come back with a positive result. Depending on which version you are typed with is going to determine the type of treatment that follows.

 

If you go on the treatment and it all turns out sunshine and rainbows, terrific. If it keeps leading you down murky paths of mystery and more complications, I'd sit back and really review the basics of managing symptoms.

 

Lots of the families here are going to tell you stories that read like magic cures when dealing with diet and cleaning it up, personally, I'm sort of in that camp also at the moment. I have lots of stories like that too.

 

Start with the food; that alone is a huge huge journey.

 

I don't see any harm in going through the diagnosis process for MTHFR, but I do see potential for problems if it gets more complicated with reliance on specialty mixtures which do NOT address the food going in as the number one goal.

[Jean in Newcastle]

One*, I appreciate your honesty. I agree with you. The thing is, I'm already on an adrenal diet of 5 small meals with protein and veggies at each meal. I eat whole foods with minimal processed foods. I am doing the gluten free thing but I'm actually a bit concerned that by going gf that I'm actually limiting my body nutritionally when I might not need to. I was already low carb but that one meal when I did some grains had healthy whole grains. Now that I"m doing gf I'm mostly doing brown rice (CA grown) and corn. If I don't have an actual problem with gluten (and there is no evidence that I do), I'm actually eating less healthy with this diet.

 

Aargh! I was actually impressed at first that I was hearing about something new that I had never looked at before. But I don't want to follow a medical fad.

[Crimson Wife]

I have heard discussions about it in relation to autism and DD's biomed dr. has her on a multi that has the 5-MTHF form of folic acid. This is the B-complex from the same manufacturer with the active forms of the B vitamins. I don't see what harm it would do to try the B-complex to see if it helps with your symptoms. B vitamins are not fat-soluble so at worst, you would just wind up with expensive urine (as the saying goes :)).

[Bang!Zoom!]

Thanks for that CW - we are going to (very shortly) run into a pharm issue with B vitamins and a script for some industrial strength ones. $$$

 

Has something to do with a diabetic med that's a drain on the B class vitamins. We haven't gotten that far yet, but I've never seen ProThera, that's awesome as a ingredient list there. :) Cool!

[tex-mex]

One thing I would caution is to steer clear of extra vitamin K (i.e. green tea is not that high, but leafy greens like kale or spinach are high in vit K) in the diet -- vitamin K is a natural blood thickener. MIL had a similar blood disorder called KLS and she had many surgeries since childhood to cauterize blood clots in her legs. She also had terrible problems with hormone replacement therapy drug when she hit menopause -- as the drugs cause blood clots. Sorry to hear about this, Jean.

Edited October 16, 2012 by tex-mex

[Jean in Newcastle]

Sorry to hear about this, Jean.

 

Don't be. I mean, I don't know that I actually have this. All I have is one naturopathic doctor saying that many people with fibro have this so you probably do too. And I'm not really buying that because I'm reading (in my online research) that the reason that some people (not all) with fibro have it is because of the toxicity of chemicals building up in the body etc. I'm not saying that I don't have it but I don't want to rush to judgement at this point. I've had metabolic testing and while I do have some toxins (which were released with chelation therapy), I didn't have unusually high amounts or anything. It has been helpful to read what people have said in this thread and on the other forums linked.

[ELITEANDLOVINGIT]

My daughter is MTHFR C677TT and was diagnosed while on treatment for leukemia because she was having problems processing methotrexate, a folic acid antagonist. Since the gene is critical in the synthesis of folic acid I imagine the normal thing would be to add folate, though because we were on an anti-folate therapy this wasn't possible.

 

Our hematologist suggested that we revisit MTHFR once both of my daughters reach puberty and if/when BC becomes an issues (which I hope is NEVER, lol). Still my friends and I have a term which we coin for this type of mutation, but I won't state it here..you can look at the letter combination and likely figure it out. Most of the issues that come from this genetic issue are minor...still for some it can cause a great deal of havoc.

 

I did read some additional posts through this thread...and while it may be a "poster" child it is not without research, in actuality there is a great deal of research related to this specific mutation including: miscarriage, blood clotting (especially when on BC), chemotherapy interference (as in our case), and many other VERY real issues. In my previous statement I downplayed some of this because for most who are hetero (as opposed to homo) I don't think that they need to feel overly concerned. Over 60% of the population is heterozygous, and this type of zygosity is nearly normal. However, someone who is homo should spend some time talking to a hematologist especially if they are female and of childbearing age, are considering birth control, or hormone therapy of any kind.

 

Best of luck with your search for info...the fourm looks interesting. I may look at that myself!

Edited October 16, 2012 by kerryfrank73

[Jean in Newcastle]

Still my friends and I have a term which we coin for this type of mutation, but I won't state it here..you can look at the letter combination and likely figure it out.

 

:lol: Don't worry. I already had thought of it! :lol:

[MyLittleWonders]

I am going to ask dd's pediatrician to order the blood test next month when we have her normal blood draw done. There is some evidence that the mutation in the mother could be a factor in Down syndrome though from what I understand the talk is still new. But, given that information, if there is a chance she has the mutation as well, we are already fighting an uphill battle in terms of proper neuro development and I'd like as much information and nutritional/biochemical support as possible. If she (and I as I also plan on asking my doctor to order a draw for me) come back with a mutation, I will probably also have ds#2 tested as he has some "quirks" if you will that give me pause.

 

As far as I know my heart is healthy, though my father had a non-ruptured aneurism (they were able to do surgery to remove it, IIRC), his mother had at least one stroke, and heart health on my mom's side isn't the greatest (though you could attribute the issues on that side to lifestyle issues of which I don't partake). I haven't had really any pregnancy problems, though did have one m/c and ended up with a huge clot (sorry, TMI) a day or so later that required me to go into the office to have the doctor make sure everything else was okay. So, there is some reason to believe I may have a mutation.

 

Spryte, you mention pyroluria as well; that is another thing I've been debating. It's a much cheaper test from what I understand ($73) and doesn't require a doctor to order it. Ds#2 and I both seem to meet much on the profile for that. I didn't realize there may be a connection though between MTHFR mutation(s) and pyroluria.

[Spryte]

Jean, MTHFR diagnosis/treatment wasn't the answer I needed - it has not been the silver bullet for me. I find it interesting, but in the grand scheme of getting back to wellness, it has not been the most significant step. But it's part of the puzzle, one of the layers of the onion. I don't attribute any of my great recovery leaps to it, though it's nice to know.

 

Looking back, it looks like my insurance covered the MTHFR test. Yours might be covered as well, if you choose to test. Mine was ordered by a doc who is covered under my insurance though.

 

Spryte, you mention pyroluria as well; that is another thing I've been debating. It's a much cheaper test from what I understand ($73) and doesn't require a doctor to order it. Ds#2 and I both seem to meet much on the profile for that. I didn't realize there may be a connection though between MTHFR mutation(s) and pyroluria.

 

I know several people with both MTHFR and Pyroluria, and was diagnosed at about the same time, so I suspected a connection - again, though, it's all complex and things are inter-related like layers of an onion. I'm not sure that one causes the other, or maybe people who are predisposed to one are predisposed to the other. But it is recommended here that if one has the MTHFR gene mutation, one consider testing for Pyroluria, among other things (note: I know nothing concrete about the lab I just linked).

Edited October 17, 2012 by Spryte

[Jpoy85]

Interesting. My new naturopathic doctor (who I"m not sure I'll be continuing with) said that since there is a correlation between MTHFR and fibromyalgia, that she'll just assume I have it and treat me for it. She said the test was expensive that it was easier to just assume I had it. I have never had any clotting issues that I know of. My heart is very healthy. I am very sensitive to chemicals and have had trouble with my liver and with detoxing. She put me on a supplement called "Methyl Guard" and told me to eat a gluten free diet.

 

Because she put me on these new supplements/diet when I was already having some acute problems (severe pain in wrists and ankles, feet so swollen that I could hardly walk and high blood pressure), I don't know if subsequent problems I had were related to the new supplement or just a continuation of whatever was/is giving me the acute problems. I feel better after discontinuing the supplement but I am also now on a diuretic and that I know is making me feel better.

 

I'm trying to figure out if I should talk to my regular M.D. about the MTHFR thing or if it is really something I should even pursue. I am continuing on the gluten free diet because it is basically an anti-inflammatory diet and I know that is good for me anyway.

 

I have Fibro and im still waiting on the getting the b/w done for MTHFR + others.

 

Anyone been diagnosed with this? What led to the diagnosis? Were any tests done and how expensive were they? What treatment was proposed and has it made a difference in your life at all? Any side effects?

 

I have not but I have a suspected clotting issue only when pregnant. What led to that was every time i get pregnant i have a placenta issue and I have also had pregnancy losses. The OB didnt do anything but said IF i get preg again I be put on Lovenox. I never got pregnant again. BUT when I saw an RE for the first time this year, he felt strongly i needed the testing (blood work). They coded it under Recurrent Pregnancy Loss not infertility. They are covered by my insurance. (infertility is not and i made sure to point that out to them). I am still waiting to get it done though because apparently its a TON of vials of blood. :scared: As for the plan from there? I dont know because it would mean it would only happen when pregnant and I would need to get to that point first.

[Acadie]

I think this is an emerging area. One of my dds was tested for one form of MTHFR mutation by a regular doctor under our plan, and it was done at a local hospital. Came back negative. Then I learned there are actually a few types of MTHFR, so if you do get tested make sure it looks at all forms of the mutation.

 

Sorry I don't have more specific info--just learning about this myself.

 

Amy