Just diagnosed with homozygous MTHFR... What to expect?

Crystal5483

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Hi there

I was just diagnosed with homozygous MTHFR. Just by lab results. I have yet to talk to my Doctor though.

Can anyone explain to me what I should expect?
 
Do you know which variation you have? I have homozygous c677t MTHFR. As to what to expect, that depends on your Dr. When I found out about my diagnosis, I threw myself into research on it. MTHFR mutations inhibit your body's ability to process synthetic B vitamins, in particular folic acid, B12, and B6. There are bio active vitamins available over the counter (as well as some prescription ones) that are in a form that doesn't need to be broken down and therefore bypasses the issues of the MTHFR mutations. The forms of vitamins that you want are L-methylfolate instead of folic acid, methylcobalamin instead of B12, and p5p instead of B6. There is a prescription medical food called Metanx that has high doses of L-methylfolate, methylcobalamin, and p5p, and I know for me, it's been great (and so much cheaper then buying them all separately!). For prenatals, the best I've found are Thorne Basics Prenatal (available otc but only online) and Emerald Labs Prenatal (sometimes available in local health food stores, but also available online).

From my research, I also found that often times gluten intolerance goes hand in hand with MTHFR mutations. I was having gut issues after my first miscarriage and they never went away. Once I cut gluten from my life, they've gone away completely!

I also made the decision to be on lovenox for my next pregnancy. Lovenox is a blood thinner and many MANY ladies with MTHFR mutations of all sorts have had luck with pregnancies after going on lovenox. I was very on the fence about this at first because I am so needle phobic, but after finding out that my husband also has MTHFR and he actually has 3 separate mutations (one each in c677t, a1298c, and p39p), I felt that I didn't want to take the chances. I know that homocysteine levels aren't a great indicator of clotting issues for MTHFR and I know that pregnancy often exacerbates potential issues into actual issues.

All of these are personal decisions that I've made based on what I've read, found out from personal experience, etc. I'd very much encourage you to read up on things for yourself! Here are some links to get you started:

On one of the reasons why I don't like synthetic vitamins anymore: https://www.doctorsresearch.com/naturalvssyntheticvitamins4.html

One of the most comprehensive and helpful sites that I've found on MTHFR. I was able to get sooo many answers through Dr. Ben's site! https://mthfr.net/

Another very comprehensive and helpful site on MTHFR: www.mthfrsupport.com They also have a facebook page called mthfrsupport (of which I am an admin - name is Leandra Anor on there) that has even more great information coming in on it on a daily basis.

Don't think of this as a death knell on carrying to term. This is just something that needs to be worked around and a LOT of ladies have gone on to have successful pregnancies after finding out about MTHFR. I'm still working on my rainbow, but I feel pretty confident that I'm on the last part of my journey now. This is scary information to get, but I hope you can come to see it like I have as a gift of knowledge. This is something that has the power to really affect the rest of your life (not just ttc) if you don't treat it, but now you know about it and the power is in your hands! Please feel free to ask me anything! I'm happy to help however I can. *hugs*
 
I, too, have two of the c677t variants. I was a little displeased as to how I found out. Initially I went to see a hematologist at the recommendation of my FS after seeing that my anticardiolipin iGg was noted "high" on my lab results. He dismissed it saying that it was transient and may not even be there at my next lab test (he asked for a repeat in THREE months) But NEITHER mentioned the MTHFR results to me despite both doctors having them. In fact they were never posted to my online health record... so I asked the nurse at the FS about it and she said that she would fax over a copy to me. So needless to say I read all of this off of a FAX! When I emailed her back about the results she said that the doctor would probably put me on 4mg of Folic Acid come next cycle (IUI) and that was all she had to say. I wrote back asking why I couldn't just start it THIS cycle but she hasn't responded (it was late in the day on Friday when I emailed back) OH and they had the results for a week. I'm getting frustrated now.

I just did some research and it looks like I would need a high-risk OB? Is this true? I'm sad that I won't be seeing my normal OB after the fertility doctor like I wanted to if this is the case. But there IS one at my OB that I could see that works at my OB. So hopefully she can work with my OB.

I just went out and bought regular b6, b12 and folic acid. I can't take prenatals... I had a bad reaction to the rX ones :( So I take a women's multi, an rx for 1mg Folic Acid, b6, b12, OTC folic acid, and then my normal scripts like levoxyl for hypothyroidism, singulair for asthma/allergy, and zyrtec-d for my nasal polyps.

I *think* I have an aspirin allergy so I am pleased that you didn't mention that. My mom passed away just over two years ago and I recently found out (a week ago!) that she had to give herself daily injections of heparin with me... I don't think they tested for MTHFR back then... but I can be pretty sure that she was positive for it since the heparin was the resolution.

I really wish the hematologist said SOMETHING about the MTHFR.
 
It's totally up to you, but you should know that a normal person without any MTHFR mutations can only process 50% of the normal synthetic vitamins that you just bought. With having the same mutation as I do, you can only process *30%* of what a normal person can. So with what you bought, you are only getting 150mcg of that 1mg of folic acid. And then you have 850mcg that is in your body potentially causing havoc until you can get rid of it. I know of several ladies who have ended up with precancerous cells on paps after being on high doses of folic acid. I'd very much recommend that you read up on the material I linked above.

That sucks the way you found out about it. I'd shop around for drs that are familiar with MTHFR and how to handle it.
 
Do you have a suggestion for an OTC L-Methylfolate? I'm going to check the organic grocery store to see if they have it. They also have some on Amazon.
 
Thorne Basics Prenatals and Emerald Labs Prenatals both have the right form of vitamins in them. If you want extra (I'm taking Metanx in addition to Thorne Prenatals), there are lots of options. I think one of the cheapest is with Swanson Vitamins. A friend of mine has been using those for a few years now and swears by them. :) Life Extension is another one that you are likely to find in stores and I've found them to be good for me. :)

I've had my best luck finding these things in Sprouts, Mother's Market and Whole Foods Market if you have any of those local. Vitamin Shoppe has some, but none of the prenatals. I'm doing more and more of my shopping online now! lol
 
Whole Foods is where I'll be heading!

I'm nervous about prenatals because I was allergic to the rX I was given (broke out in hives) but perhaps I will give one if these a chance too.

I found Thorne L-Methylfolate on amazon!!
 
So I finally got on the computer and I see you're from Southern California .... I was born in Orange!

So whole foods was a bust but I ordered the Thorne L-methylfolate on Amazon.com

What about B vitamins? Like B6 and B12? I have 1000mcg of B12 (cyanocobalamin) and 250mg of B6 (pyridoxine hydrochloride)

I will have to ask the doctor about alternatives to aspirin and see if he'll do the injections as soon as I'm pregnant along with progesterone.

Is there anything else you think I should know?

THANKS AGAIN FOR EVERYTHING!
 
For B6, I'd recommend P5P as that is the bio active form of it. I'd also be careful with taking too much B6. I grabbed a supply of the 250mg size pills and was taking them for a few weeks, until my Endo put me on a much lower dose (basically I'm getting around 45mg between what's in the Metanx and what's in my prenatal), but even just those few weeks, added several days to my luteal phase and my mom had her period stop completely! My Endo recommended staying under 100mg per day on B6.

And for B12, I'd highly recommend methylcobalamin. Cyanocobalamin is made from cyanide!!! Sublingual is the best form for it. Next best are patches or sprays.

Everyone is a bit different in the amounts that are best for them, but just to give you an idea, I'm taking 5mg of methylfolate (between Metanx, my prenatal, and additional methylfolate that I decided to take), a bit over 4mg of methylcobalamin, and then the 45mg of P5P.

As for the aspirin, I'm on baby aspirin, but if you've had a bad reaction to it, I can totally get why you wouldn't want to be on it. I don't know if there is a substitute or not, but what you would want to look for is something that can cross through the placenta. Lovenox can't, but baby aspirin can which is why so many ladies are on both - the combination protects both sides.

I'm living just south of Orange!! I'm about 20 mins from Disneyland! :D What a small world right?
 
Small World was my favorite ride, then Pirates of the Caribbean. I moved when I was four. But my mom's family is all out there. Corona, Fallbrook, Ladera Ranch etc. I was just out there this past July :)

Hmm I will have to research the baby aspirin thing. See I had a bad reaction to Aleve but because that's an NSAID they classified me as allergic to ALL NSAIDs which I thought was crazy. I was on Motrin after giving birth to my daughter! Guess things change!
 
It's possible too that the tiny amount in the baby aspirin wouldn't trigger a reaction? I'm not sure on that though. I've been fortunate to not have a reaction to any of it. I'm not too far from Ladera! :)
 
Waiting outside the pharmacy now for my progesterone!!!! HCG was 21! Woohoo! And he's putting me on metanx for my MTHFR!
 
Dodger thanks to you I actually TAUGHT my FS about metanx he had never heard of it! He said he actually likes it better because there's more "folic acid" that Folgard.

It's not covered by insurance but its not too bad $43/mo
 
YAY!!! That's awesome!! See if you can get your prescription transfered to https://www.branddirecthealth.com/. That's where my Endo said to get it through because it was the cheapest that she'd seen. I'm taking one pill a day and paying $72 for a 3 month supply. :)
 
lol I couldn't sleep!! I have to be at work in an hour and a 1/2 anyway, so I just decided to fiddle around. :p I think I'm just excited. :D My temp jumped up this morning higher then I've had before (non-fever temps at least) and I've been gassy/burpy, full uterine feeling, pinching in my uterus area, and I just FEEL pregnant (I'm 7dpo today). So yeah. lol I'm kinda wired. :p
 
Yes!!! That would be awesome if you were pregnant too!!! Bump buddies for sure! I'll be praying!
Working on Thanksgiving? Ugh! I'm hosting and I have to get the turkey breasts in the oven around 10:30. I've been sick for almost two weeks now so of course nothing has been done until this morning! Now DH, DD and I are running around like mad. Well I'm not at the moment... Letting the progesterone settle in :)
 

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