MTHFR questions

[labbie123]

I have had 2 miscarriages this year and found out late last week I have MTHFR. I tested positive for A1298C (2 copies) but I didn't have C677T. I was so thrown off when the nurse told me I just don't think I understand what all this means. I know I need to take folic acid but does the presence of this A1298C make me at higher risk for another miscarriage, what about birth defects and is there anyone out there who can share a success story with me.

thanks!

[Lauren2005]

Hi labbie123,

I'm not a doctor but I am an MTHFR patient. Hopefully I get all of this information right. If not, the ladies here possess an amazing amount of knowledge and can clarify anything. Also, check out (and possibly join):

http://health.groups.yahoo.com/group/immunologysupport/

MTHFR mutations come in two forms: A1298C and C677T. If you have one copy of one mutation, you are "heterozygous for A1298C" or "heterozygous for C677T", depending on which one you have. If you have one of each, you are "compound heterozygous for MTHFR mutations". If you have two copies of one mutation, you are "homozygous for A1298C" or "homozygous for C677T". According to Dr. Beer (a world-leading reproductive immunologist you'll read a lot about on this board), this is the order of severity of the different mutations:

1.) most significant = homozygous for C677T
2.) next most significant = compound heterozygous
5.) least significant = heterozygous for A1298C

I know that "homozygous for A1298C" and "heterozygous for C677T" are numbers 4 and 5 in terms of significance, but I can't remember which order...

These mutations are associated with blood clotting, and a tendancy for your blood to clot up in the teeniest, tiniest blood vessels in your body. And guess where those are... the uterus. So, YES, that could be the reason for your two miscarriages (I'm so sorry to hear about them.) But, if you take the baby aspirin and Folgard, and *possibly* Lovenox (low molecular weight heparin) you are NOT at risk for additional miscarriages, any more than the average woman (remember, first-trimester m/c's can be caused by a variety for factors unrelated to the mother.) If possible, I highly recommend seeking out a consultation with a reproductive immunologist to clarify whether other tests are needed or Lovenox should be prescribed.

Dr. Beer's rule of thumb is that for one copy of one mutation, you take 2.2 mg of Folgard (prescription Folic Acid... just taking over-the-counter Folic Acid won't do) and for two copies, whether they are of the same mutation or different mutations, you take 4.4 mg of Folgard. This is for the rest of your life, not just related to fertility. YOU ALSO NEED TO TAKE ONE BABY ASPIRIN EVERY DAY for the rest of your life.

There is no risk of birth defects related to this mutation as long as you take your prescription Folic Acid.

I'm compound heterozygous myself, so I take two tablets (4.4 mg) of Folgard, along with one daily baby aspirin. In my case, I'll also be taking Lovenox starting on cycle day 6 when I'm allowed to try again.

I hope this has been helpful and not more confusing. Don't hesitate to look up "homozygous MTHFR" on google.com or other search engines. So much information is available today.

Ladies, did I get it all correct? Please clarify if not.

Best wishes to you for a successful journey to parenthood.
Lauren

[burra]

PG and CHILD MENT


Hey Labbie

Firstly....Lauren....looks right to me...but I am a bit of a novice here too

I have heterozygous MTHFR C677T as does my DH....we have a 25% of having problems with the placenta. We didn't discover this until my DD was born with IUGR.

Currently I am 30 weeks pregnant with my 3rd child and am taking the following.....baby aspirin...5mgs of Folic Acid...100mgs of Vit B6 and B12. This pregnancy I am also having 2 weekly u/s to check the baby's size, development etc etc. Everything looks good so far....keep your fingers crossed.

I think it's great that your Dr's have discoved this....there are definitely things you can do now that can help you maintain a pregnancy.

Good luck with everything.

[Lauren2005]

Karen,

You and your baby boy are in my prayers!!!!!!

Lauren

[burra]

Thank you Lauren....that is so sweet of you

[labbie123]

thanks for the replies. I just read them quickly and know I will have more questions. Is Dr Beer in the Chicago area???

[Lauren2005]

Dr. Beer used to be in the Chicago area. He's now in California and London. However, he has hundreds of patients around the nation and the world that he never meets in person. They have the bloodwork performed at a local lab, then the blood itself is sent to a lab in Chicago, ironically enough. Then the lab gives Dr. Beer the results and he comes up with a protocol for you personally. He gives you the information via phone consult. Or, you could come out here in person. I met with him two weeks ago. He's like a kindly, intelligent, serious, informed, warm grandpa-type. Be sure to check out his web site http://www.repro-med.net

Best wishes and baby dust to all!
Lauren

[monarchbutterfly]

i just wanted to say i wish you best of luck. it seems like you already found someone to offer you good advice.
if i can be of any more help let me know.

[Ruth41]

lauren,

You seem to know so much. Do you think you can help me? I just found out yesterday that I have homozygous MTHFR C677T. I know that's the worst. I've had 5 m/c and am pregnant now via IVF. Yikes! I can't lose this baby! My RE and my ob/gyn conflict on my protocol. I spent all night trying to figure this out. RE admits this is not his area of expertise. So does ob/gyn, but she has more practical experience. RE says only aspirin and 4 mg Folic acid required, although he did give me a scripts for Lovenox at my insistance. He said it can't hurt. Ob/gyn said I need what the RE says and I should start Lovenox at the first sight of a heartbeat. From what I've read on the net, I think I should be on Lovenox now. Do you have any experience or know of anyone who went to term successfully who has homo C677T? I'm so afraid I'm going to m/c again but I also don't want to start shots before it's necessary. Ob/gyn says starting too early could increase chance of bleeding. Any thoughts?

Lurkers feel free to chime in. I'm so lost!!

Ruth

[Lauren2005]

Okay, Ruth, I am only a patient trying to learn a lot very quickly, but I can tell you with 100% confidence that if I were you I would...

STOP READING THIS MESSAGE IMMEDIATELY AND GO BUY YOUR LOVENOX AND USE IT RIGHT AWAY. Dr. Beer actually even recommends starting before conception (CD6) but would be pleased to see you starting pre-heartbeat. Don't wait for it.

Yes, the homozygous MTHFR C677T is the most severe but there are MANY, MANY success stories. And the best news (silver lining to the dark cloud) is that this does explain your prior miscarriages. Your future is now bright.

In addition, having the MTHFR mutations had put you at risk for heart disease, stroke, Alzheimer's, and other serious conditions. By continuing to take baby aspirin and Folgard forever, your risk is reduced to be the same as anyone else's. One possible way to look at this is that the babies you lost may have saved your life.

Please join the Yahoo group. All the women there are dealing with immune issues, and many are pg right now. Most are patients of Dr. Beer. It's not the same type of bulletin board as this... there's just one stream of messages and only about 20 new postings each day. But it's full of information and the information files are amazing.

Good luck to you!!!!!!!!!
A happy and healthy pg to you.
Lauren

P.S. http://health.groups.yahoo.com/group/immunologysupport/