MTHFR advice?

[Novella]

My sister has been going through IVF and has been diagnosed with unexplained infertility, she does have pre existing Endo and has had a lap and her gynae was happy with the results. She also has a low AMH but had a successful EPU, had OHSS and had seven frozen D5 blastys. She has had two failed frozen cycles. This month was cancelled as she ovulated later than normal for her (day 16 normally, d18 this month). She was going to start progesterone pessaries this month but due to the failed cycle has not

She has gone to the GP and requested testing for MTHFR I also suggested she get a full coagulopathy screen done (the GP didnt do this to start with so she has had more blood taken today as the lab report suggested this) I also told her to get B vitamin levels screened but the GP didnt do this

Her MTHFR result came back as compound heterozygote (C677T & A1298C). The GP had not heard of MTHFR before she requested the test and couldnt give her the results and asked how her morning sickness was . The GP tried to tell her being heterozygote was good, but my understanding is that she has two DIFFERENT variants, neither of which is normal and this combination is often seen in women with implantation issues and loss rather than her carrying one normal and one variant gene which can be less problematic.

She is seeing her FS on Thursday next week and I strongly suggested she ask to speak with a genetic counellor to explain the results and possible treatments. Her FS is conservative and she is concerned about them not trialling anticoagulant therapies, I suggested she could contact another clinic for a second opinion if she wasnt happy with her care.

Does anyone have more information regarding MTHFR and any good resources I could refer her to as she is resisting googling but wants some more information. I have told her not to go back to that GP. She started taking megafolate after her blood test. I hate seeing her go through this, it seems there is one thing after another, I wish she could have her baby in her arms

Thanks so much

[nothing2lose]

I know just the person to help you! I'm sure she'll be in to answer your questions!!!

[LionsandBears]

That would be me I am also compound hetero MTHFR. I will need to come back to you on this. I do recommend googling Ben Lynch, a naturopath in USA who specialises in MTHFR. He has the most comprehensive information on it that I have found. Some of it you can take with a grain of salt, but it still better than most.

The most important things is to stop all folic acid immediately as it interferes with her body. She will need to find activated folate or methylfolate or folinic acid instead. Thorne Research have one available in Oz - get it at health food stores. I get mine from the USA.

i was taking low dose aspirin but stopped as i was reacting to it. I will look if i am better with other brands.

BBL

[nothing2lose]

It might have been you L&B...... Can't say

You're in good hands Sararose!

PS. If your sister ever wants some "peer support", point her in the direction of the LTTTC and Assisted Conception threads. The gorgeous women in there are ultra supportive and know exactly what she is going through.

[Novella]

Thanks ladies. I'll let her know about Ben lynchs site. She is seeing a naturopath/acupuncturist so she is going to discuss the results with her.

N2L thanks for the invite I have Pointed her in this direction previously but she is already part of another online community and I think likes the freedom of anonymity there.

Thank you L&B I have told her about the need for activated folate (makes sense if the main problem is Converting folic acid into a useable form to take a form that is already useable)

[BellyBelly]

MTHFR - Is The MTHFR Gene Mutation Affecting Your Pregnancy?