MTHFR gene mutation, the journey thus far. EVERYONE GET TESTED!

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samjones
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Date Joined Jan 2013
Total Posts : 355
   Posted 2/20/2013 12:50 PM (GMT -6)   
Hi All,
 
Let me start with saying that I believe everyone with lyme should get tested for this gene mutation. Because if you have it, you can't rid toxins easily from your body.
 
This entry may be choppy, I am sorry ahead of time. My brain fog is almost as bad as it was when I first began lyme treatment 3 years ago!
 
Having this mutation means you need to undergo methylation treatment. My first week into it, I had more energy than I have had in 5 years! I cleaned my entire house, exercised, and insomnia was gone. First time in 3 years I didn't need melatonin or something else to sleep. A few days ago, I crashed. I actually feared my seizures were going to come back. Fortunately, they haven't. But the pain my body is enduring feels like when I first started lyme treatment. This is common as pathways for toxin release are opening up.
 
I wish I was tested for this 3 years ago, as herxing would have been easier without so many toxins being trapped in my body. Maybe the treatment would have been shorter, maybe a lot of things would have been different. I have so much info I would love to share with everyone, but I just can't think clearly enough to state it. I just urge everyone get tested for this, as it is stated that approximately 25 - 30% of the public have this mutation.
 
Love to all,
Samantha
Undiagnosed lyme, bartonella, anaplasmosis, babs for 25 yrs with a 16 year old that I passed lyme and coninfections to daughter through pregnancy. We both began treatment 1/6/11. Still treating. Daughter will be a success story hopefully in 2013!

opugirl
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Date Joined Nov 2012
Total Posts : 3283
   Posted 2/20/2013 1:00 PM (GMT -6)   
Can you tell me where you can get tested for this?? Someone said 23andme but they say on their website that their testing for it is spotty. Thank you for this information!

samjones
Regular Member


Date Joined Jan 2013
Total Posts : 355
   Posted 2/20/2013 1:08 PM (GMT -6)   
23andme is something I am actually going to go ahead and get done. I have seen rave reviews about this, considering the wealth of info you get at the price. I just heard that reading and understanding the results from the tessting can be difficult. But that's what we have each other for lol... not to mention the internet.
My test was ordered through the lab Quest Diagnostics. My doctor just prescribed the MTHFR testing on the form, and the genes were tested. Results came back in a few days. And my insurance covered it.
Undiagnosed lyme, bartonella, anaplasmosis, babs for 25 yrs with a 16 year old that I passed lyme and coninfections to daughter through pregnancy. We both began treatment 1/6/11. Still treating. Daughter will be a success story hopefully in 2013!

Lymer
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Date Joined Sep 2012
Total Posts : 510
   Posted 2/20/2013 4:40 PM (GMT -6)   
Did your insurance cover the methation treatment? Idk what that is but I'm about to google it!

My MTHFR just came back "heterozygous for C", but I don't see my LLMD again until the end of April. Is there anything you know of I could do in the meantime to get a jump start on this??

I would LOVE to be able to clean my house!!! I've been so depressed this week as I lay here in my PJ's, too much pain and not enough energy for anything :(

samjones
Regular Member


Date Joined Jan 2013
Total Posts : 355
   Posted 2/20/2013 9:50 PM (GMT -6)   
Hey Lymer,

Methylation therapy consists of the active form of 3 B vitamins: L-methylfolate (active form of folic acid), Methylcobalamin (active form of b12), and P-5-P (active form of b6).

My methyl B12 is covered by insurance because I get it in the form of injections, one every 4-5 days. L-methylfolate is available in prescription form, although in high doses (I believe it starts at 750 mcg). And that is way too high to start at. I started at 200 mcg, did well for a week, went up to 400 mcg for 2 days and crashed, REALLY HARD. Now I am starting at 100 mcg, after being off for a few days and in some serious pain. The P-5-P, I don't believe is covered by insurance, aqlthough I am not sure.

Was at my doctors today. He ordered a new set of tests: Organic acids panel test (urine), homocyestine levels, amino acid panel tests (blood and urine), as MTHFR can affect all these.

Other vitamins I take to help with this are NAC and vitamin E. NAC helps produce glutathione (antioxidant made by the body), which helps breakdown ammonia and other toxins. Glutathione production can be low due to MTHFR mutations.

MTHFR can also cause movement disorders, low thyroid, adrenal problems, heart palpitations, headaches, really, the list seems endless, and they can mimick so many of our lyme symptoms.
Undiagnosed lyme, bartonella, anaplasmosis, babs for 25 yrs with a 16 year old that I passed lyme and coninfections to daughter through pregnancy. We both began treatment 1/6/11. Still treating. Daughter will be a success story hopefully in 2013!

Lymer
Veteran Member


Date Joined Sep 2012
Total Posts : 510
   Posted 2/20/2013 9:58 PM (GMT -6)   
Very helpful and interesting samjones!

Btw good to hear from you! I'd been wondering where you'd been lately :)

So is MTHFR related to Lyme in any way? I guess what I'm asking could some just have this problem and it be mistaken for Lyme disease?

Idk if its because of this herx or what but this MTHFR stuff is just really baffling to me, I can't quite comprehend, so I'm sorry of I'm asking ridiculous questions. I simply have no idea. Just when I think I've figured it out I seem to forget!!!! Maybe I need a nice long detox bath to clear my head...

Lymer
Veteran Member


Date Joined Sep 2012
Total Posts : 510
   Posted 2/20/2013 9:59 PM (GMT -6)   
It also reminds me of what could be an abbreviation for a certain choice word I like to use when describing this illness (MTHFR)... LOL

wellbeautifulspirit
Veteran Member


Date Joined Sep 2012
Total Posts : 625
   Posted 2/20/2013 10:23 PM (GMT -6)   
:) yeah from being so sick, that other word is all i see

great, I have that gene, so under my breath I can use that other word,

i dont know what to do about it, though

great, again can use that word, :) lol

got to laugh at something...:)
chem sensitivites, bioxtoxin illness, heavy metals,lyme, bart, low adernal reserve, methylation defects, melanocyte hormone low, low dhea, inflamation
hormonal inbalance, probs with my heart, lungs, liver.. god help me

wellbeautifulspirit
Veteran Member


Date Joined Sep 2012
Total Posts : 625
   Posted 2/20/2013 11:22 PM (GMT -6)   
I have A1298C mutation , positive for two copies.

wahoo. :) says need for methylation defects.

whatever all that means..

i am making some art, photography with some of my medical records

dont ask :)

just sipping my cholestymne nasty stuff, and who else could i drink this with

except for a fine group of lyme patients... :)
chem sensitivites, bioxtoxin illness, heavy metals,lyme, bart, low adernal reserve, methylation defects, melanocyte hormone low, low dhea, inflamation
hormonal inbalance, probs with my heart, lungs, liver.. god help me

samjones
Regular Member


Date Joined Jan 2013
Total Posts : 355
   Posted 2/20/2013 11:29 PM (GMT -6)   
Its interesting that you ask that Lymer (if MTHFR can be mistaken for lyme disease). I spoke to a naturopath, and he says that he has found some cases where the lyme disease was cured, but many symptoms remained and people were being treated for lyme when they really needed treatment for MTHFR instead.

Let me try and explain this really simply (I understand how it is baffling, especially with a brain fog). We need folic acid, b12, and b6 for so many functions in our bodies. But many vitamins we take (because thats the way most companies sell them) are not in an active form. The human body must take folic acid, and after 4 processes, turn it into it's active form called l-methylfolate. Same goes for B12 and B6. Well, us folks with the MTHFR gene mutation can't effectively turn folic acid, B12, or B6 into their active forms. This is true of the c667t mutation.
As for the a1298c mutation, it can further impair methylation, but it can interfere with the recycling of tetrahydrobiopterin (BH4). BH4 is an essential cofactor in converting l-tyrosine (an amino acid the body makes) to l-dopa (another amino acid). BH4 also helps break down ammonia, phenylalanine, and other toxins from the body. low levels of BH4 can affect the following neurotransmitters in the brain: seratonin, dopamine, melatonin, norepinephrine, and epinephrine. It is a cofactor in nitric oxide levels.

http://www.sigmaaldrich.com/etc/medialib/docs/Sigma-Aldrich/General_Information/metabolicpathways_updated_02_07.Par.0001.File.tmp/metabolic_pathways_poster.pdf

That chart (if you increase the size) shows you all the things that can be affected by an MTHFR mutation. Some ways directly, others indirectly. Think of the mutation like a domino effect.

Thats a simplified explanation of the mutations. Each mutation has a different therapy. I hope it cleared some things up for you and didn't make it more confusing...
Undiagnosed lyme, bartonella, anaplasmosis, babs for 25 yrs with a 16 year old that I passed lyme and coninfections to daughter through pregnancy. We both began treatment 1/6/11. Still treating. Daughter will be a success story hopefully in 2013!

Lotusrising
Regular Member


Date Joined Sep 2010
Total Posts : 99
   Posted 2/21/2013 5:43 PM (GMT -6)   
it's said that 40% of the population has one mutation (at least a hetero mutation) and 10 to 15% is homozygous (double mutation)... that speaks for itself. if you are sitting next to one other person... either you or the other person probably has it in one form or another...

it's a little more complex because you're more likely to have it if it runs in your family but you won't know that unless you're tested.

Ilexis
Regular Member


Date Joined Jan 2013
Total Posts : 43
   Posted 3/6/2013 10:22 AM (GMT -6)   
I know this is a bit of an old thread, but I'm wondering if anyone is still here and can help me understand the difference between the MTHFR mutation, the DetoxiGenomic profile, and 23andme.

I'm trying to interpret the results of my DetoxiGenomic profile, and I'm wondering if it has anything to do with MTHFR or not, or if I should get tested for that as well.

Thanks!

mxmom2
Regular Member


Date Joined Jul 2012
Total Posts : 34
   Posted 3/6/2013 10:38 AM (GMT -6)   
might take a look at Cerefolin NAC. My husband sells this and my LLMD loves it. I take it every day! It contains the ingredients mentioned in these posts. It is a medical food but requires a prescription. Not a single person I know on it has had any side effects. I can tell when I DO NOT TAKE IT!!

wellbeautifulspirit
Veteran Member


Date Joined Sep 2012
Total Posts : 625
   Posted 3/6/2013 10:58 AM (GMT -6)   
I have the mutuation, now what?

what do I do?
chem sensitivites, bioxtoxin illness, heavy metals,lyme, bart, low adernal reserve, methylation defects, melanocyte hormone low, low dhea, inflamation, cognitive issues, brain fog, air hunger
hormonal inbalance, probs with my heart, lungs, liver..very little money left, god help me

Lotusrising
Regular Member


Date Joined Sep 2010
Total Posts : 99
   Posted 3/6/2013 11:08 AM (GMT -6)   
there are some good groups on facebook that discuss MTHFR in addition to the usual google info...

samjones
Regular Member


Date Joined Jan 2013
Total Posts : 355
   Posted 3/6/2013 12:54 PM (GMT -6)   
which mutation do you have wellbeautifulspirit? Do you have a hetero or homozygous mutation?
Undiagnosed lyme, bartonella, anaplasmosis, babs for 25 yrs with a 16 year old that I passed lyme and coninfections to daughter through pregnancy. We both began treatment 1/6/11. Still treating. Daughter will be a success story hopefully in 2013!

wellbeautifulspirit
Veteran Member


Date Joined Sep 2012
Total Posts : 625
   Posted 3/6/2013 2:32 PM (GMT -6)   
I have homozygous

for a1298c mutation, two copies of that mutation.
chem sensitivites, bioxtoxin illness, heavy metals,lyme, bart, low adernal reserve, methylation defects, melanocyte hormone low, low dhea, inflamation, cognitive issues, brain fog, air hunger
hormonal inbalance, probs with my heart, lungs, liver..very little money left, god help me

Mystery Illness
Veteran Member


Date Joined Dec 2011
Total Posts : 767
   Posted 3/6/2013 10:01 PM (GMT -6)   
It's great that you brought this up! My LLMD just talked to me about it at my appt. last week. She said that she puts most of her patients on methyl B vitamins anyway, so doesn't typically test. I'm on methyl B12 and she wants me to start methyl folate. She didn't mention the B6 form though, so I need to ask her about that. Where did you find the methyl folate?

twinkl1999
Regular Member


Date Joined Sep 2011
Total Posts : 213
   Posted 3/6/2013 11:21 PM (GMT -6)   
I also just learned that I have 2 copies of the a1298 mutation and my dr put me on b12,6 and folate.

samjones
Regular Member


Date Joined Jan 2013
Total Posts : 355
   Posted 3/7/2013 1:12 PM (GMT -6)   
B6 is P-5-P in it's active form. I buy my folate from a company called solgar. There are a lot of folates that claim to be the active form and are not. Tis folate is as in Metafolin, which is. the a1298 mutation, where it can have problems with methylation, putting someone on b12, b6, and folate will not fix them. People with this mutation have a problem with BH4. That's the supplement needed. I don't have this mutation, but my daughter does. We started first on the methylation process (she also has the 677 mutation), and then we will slowly add whatever else she needs. It is alo a good idea to add 400 mg od vitamin e and 900 ml of NAC. That helps with glutathione production.

The next step was that my daughter and I had our amino acid and organic acids tested. These gene mutation interfer with that process. And we actually just recieved our results yeasterday. Bot was I low on a lot of different things, all things that have something to do with the methylation process, low glutatamine, methione, citrulline, arginine, ethanolmine, asparagine, hydroxyproline, etc... the list goes on. Hopefully, methylation will help all of these, but it is a slow process because I also have the HLA markers. THe next step is to get work on vitamin and minerals based on many of the results. Some things could be because I am deficient in vitamins.

Oh a note on the organic and amino acids test, you should have both the blood and urine tested. According to my bloodwork, everything is fine. It's my urine where everything is so off. From what I have read, the urine better suggests what the body is using and the blood just kind of holds it. SO it seems urine is more the important marker for deficiencies, autoimmune diseases, and gene mutation info (regarding the damage it is doing).

It was very inereting when my naturopath suggested that it coould be the toxins and the damage it does that could be giving me many of my symptoms. And as I read everything that low or high levels of these things do, I really do wonder, after 3 years of lyme treatment, how much of this is really still the lyme, and how much of it is the aftermath of the damage that lyme caused. And now its cleanup time...
Undiagnosed lyme, bartonella, anaplasmosis, babs for 25 yrs with a 16 year old that I passed lyme and coninfections to daughter through pregnancy. We both began treatment 1/6/11. Still treating. Daughter will be a success story hopefully in 2013!

Lotusrising
Regular Member


Date Joined Sep 2010
Total Posts : 99
   Posted 3/7/2013 1:43 PM (GMT -6)   
alot of symptoms of MTHFR and lyme look alike... as do those of heavy metal poisoning (from failure to detox) --- or failure to detox from lyme or inflammation from lyme. detox is key.

i'd get tested if you have the mutations... my dr. has me on a specific protocol having looked at my thyroid as well and he monitors this over time. everyone is different because we have different gene mixes, it's not one size fits all.

yes the remedies (b12, b6, glutathione) may be standard... but what else? and how much? my doses are very different from what other people are getting.

either it's my doctor's general approach, or my doctor saw what i needed. i'd like to think it's the latter. i take daily b12 injections for example because right now i am not absorbing. (i was already taking a weekly injection!) as to why, that's another ?.

nspeedracer
Regular Member


Date Joined Feb 2013
Total Posts : 161
   Posted 3/7/2013 2:31 PM (GMT -6)   
what is the name of the test?
can my primary care doc order it? if so i need the name cause they are clueless

davidteddy
New Member


Date Joined Nov 2012
Total Posts : 8
   Posted 3/7/2013 3:10 PM (GMT -6)   
sam jones, can you tell me (i must have missed it) what your test showed? what kind of mutations do you have?

samjones
Regular Member


Date Joined Jan 2013
Total Posts : 355
   Posted 3/8/2013 1:03 PM (GMT -6)   
I am still waiting on my 23andme test results, they will show a lot more. I have the MTHFR c667t gene mutation (just one) and I have the double HLA marker for the multi susceptible gene, stating that it is nearly impossible for me to detox. I also have a double HLA-DQ3. I know that is the one for RA, but I don't know much else for it. I am still researching. As for my daughter she has bother the a1298 and the c667.

Before my organic acids and amino acids test,my doctor said that having only one of the mutations wouldn't do anything. According to these other tests, that couldn't be further from the truth. All the amino acids that were low were directly involved in an inability to methylate. Don't have enough glutation, etc. A lot of these mutations can also cause seizures, and I had seizures for 18 years! I don't know if it was the lyme, mutations, toxins or what. I think it was a combination of it all. But I havent had a seizure in years and I have been off my meds for 1.5 years... Amazing!
Undiagnosed lyme, bartonella, anaplasmosis, babs for 25 yrs with a 16 year old that I passed lyme and coninfections to daughter through pregnancy. We both began treatment 1/6/11. Still treating. Daughter will be a success story hopefully in 2013!

MomOf2WithLyme
Regular Member


Date Joined Feb 2013
Total Posts : 66
   Posted 3/8/2013 1:51 PM (GMT -6)   
Woe. Great info. I make my long drive to my LLMD on Moday. Perfect timing to find out! Thanks!


HAHA AND I WONT FORGET THE NAME EITHER!!!!!!

Thanks Samantha
Fibromyalsia, Colitis, Sjogerns, Lyme Disease, Epstein Barr, anxiety, depression, PTSD, Cytomegalovirus, RMSF, severe arthritis, joint swelling, muscle spasms & MORE :(
*On anti-seizure med, Prozac, Xanax, Vicodin, mega dose vitamin D, omega 3, probiotic, magnesium,B12, Clarithromycin

When the best things are not possible, the best may be made of those that are. - Richard ******
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