MTHFR Heterozy - what?

Well, it pays to get a copy of your records. I needed copies of all my fertility/blood test records and I decided to go through them very, very carefully. I saw that there was a blood test from APRIL that was ordered, but for which no results were in the file. I called my FS to chase up...well, they never "got" them? huh? AND they weren't normal. I have "MTHFR Heterozy". Unfortunately, I missed the FS's phone call and now she is gone so I have no one to explain to me what this means. She left a message babbling about increased follic acid as well as aspirin - I think...I really don't feel like waiting for tomorrow to find out what this means...and I am so ****ED OFF that these results were available in April but slipped through the crack- WHY have I paid her $150 for 10 min of her time (multiple times) for this kind of service....

I don't know enough about it to help, but I do know that this is linked in with recurrent miscarriage.

Bl00dy annoying that this was missed - but don't give up on IVF, the disorder's effects on ending a pregnancy can be easily overcome as I understand it.

how disopointing for you.. i cant believe FS missed it! were you on clexane with your last cycle? as this is part of the treatment with ivf (i think)

I hope you get answers soon

I have never been on anything to address this condition although my m/cs have been due to documented trisomies (and a failure to develop - blighted ovum?) so they would have failed regardless. But that's not to say I am not so angry. To blame it on the lab not delivering the results - WTF? isn't it your job to chase up the results of the tests you order for your patients - it certainly shouldn't be mine. I am so cynical of these FS - I think there are only a handful of them who truly care about their patients - the rest are in the fertility business if you get what I mean. And the hassle of chasing down all this paperwork - what a PITA.

Anyway, I hope there are more bellybelly posts and that I speak to my FS tomorrow. I've been waiting for her call and carried my mobile with me for most of the day - as seems to be the usual with these things, she called during the only 45 min window that I forgot to take my mobile with me.

From my understanding, being heterozygous for the MTHFR gene is NOT actually a problem. Unless my brain is seriously screwy, heterozygous means you only have one of the genes and MTHFR can only be an issue when you have two (homozygous). Did they also check homocysteine levels? Elevated homocysteine levels are what indicates that the MTHFR gene is a problem and needs to be treated.

I'm heterozygous for MTHFR and I've been told quite emphatically that it's not a cause for concern and doesn't need to be treated. I hope you can get a clear answer from your FS soon - leaving results that long is just... mind boggling!

BW

Thanks butterfly warrior - I think your brain is working fine as what you are saying sounds similar to her voicemail message.
I will ask about homocysteine testing.

Hi Julie,
OMG, how frustrating, and how dissapointing to have this information there all this time. This is the same genetic issue that I eventually tested postive for, for both mutations of the gene, have you Googled MTHFR?

From what I understand having this gene mutation means that your body does not absorb folic acid (B9) and B6 and B12 also. It is also supposed to result in high homocystein levels, which is linked to blood clotting. The MTHFR falls under the thrombophilia blood clotting disorder and can lead to/is linked to blood clots, stroke, heart attacks, altzeimers etc

MODS, I hope it is ok to post this link: MTHFR

See this para, very interesting: Because of a mother with MTHFR’s inability to efficiently metabolize folic acid and vitamin B9, the disorder has been linked to a variety of pregnancy complications such as chromosomal abnormalities, such as Down syndrome, and congenital malformations.

My FS immediately prescribe the following:
Low dose aspirin (like Cartia - 100mg I think) daily for life, regardless of TTC or not
Mega folate (5mg) daily for life - you can get this behind the counter at the chemist, it is actually cheaper than buying a 500mcg folate tablet
Clexane injections to thin the blood - I am on 20 mg/.20ml per day (my FS initially suggested starting from BFP. As I had never achieved before, I pushed for from ET, but still felt that it might have been too late, so my successful cycle I started the night of EPU).

I did get my homocystein levels checked and they were within normal range, however my FS felt that my ability to get to BFP was still being impacted by this blood clotting issue, hence also prescribing Clexane to thin the blood, ensure sufficient blood flow to the endometrium and embryo etc.

Oh I hope hope hope this makes all the difference in the world. Just to be Dr BDT, I would be pushing your FS to prescribe you Clexane, to me it was the magic injection that I totally attribute to finally getting a positive.

I hope this helps some, will be praying with all my might xx

Hi, me again I missed BWs reply while posting my own. I did heaps of research on this, and did see on plenty of occassions where women (particulary on the UK and US sites) had only one mutation of the gene, and where homocysteine levels were not elevated, and still their FSs prescribed Clexane to address any potential issues, and where subsequently they had success.

There are definitely theories both ways.

My FS also indicated that by testing positive for one thrombophila blood clotting disorder, there was something like a 50-70% chance that you would also test positive for another blood clotting disorder if they had identified all the disorders you can possibly have, if that makes any sense.

I guess it all comes down to what you FS thinks and how seriously they take this result. In my personal opinion, this is something well worth looking at and address.

xx

BDT, now that I think about it, you may have a point. I didn't have any success getting embryos to stick (they would all try very hard, though!) up until I added aspirin into the mix of things I took.

A second round of testing revealed that my lupus anticoagulant level was one point below the level where the doctors would consider it to be a problem... But considering I was already taking prednisone (one of the treatments for LAC) the woman I saw for acupuncture really felt that this was actually a problem for me. We couldn't convince a doctor to give me clexane, but baby aspirin is available OTC, so off we went and Sam is the result...

Not suggesting you do anything of the sort, Buliej, just putting it out there.

BW

You all are fantastic! I will raise these things with my FS. I hope that my single MTHFR mutation did not have any impact on the health of my eggs, as I could have been on extra folic acid, aspirin and the vitamin B's since April! If this treatment could have improved on my egg quality...I am going to be furious - they should refund all the money I spent on IVF treatments since April. But if it's about becoming and carrying a pregnancy, I did get over the first hurdle and my reasons for miscarrying have been proven to be chromosomal....to date that is.

Julie, I don't have any advice but just wanted to say that I hope this is the answer for you hun :hug: How very average that your clinic missed this :wall: just shows how responsible you have to be for your own treatment doesn't it? :( Certainly we had no success until I got more pushy.

Also, I think WTH knows a bit about this too - may be worth sending her a PM to see if she has anything to add to the excellent advice you already have :)

All the best hun xo

Julie - I have the same. As your embryos have been implanting I wouldn't worry too much. Basically there is a chance you don't process Folate properly so as the girls said before - just buy the Megafol 5mg as opposed to the .5.
Yes and next round you will most likely be put on Clexane - but with a lead up of asprin. Asprin stops when clexane starts. Mind you my FS didn't put me on asprin at all - just clexane.
MTHFR can cause some clotting issues - hence can sometimes hinder implantation. They use the asprin/clexane to ensure smooth uterus and not clotting.
I know you are upset you weren't told but at least you now know it's really not too serious.

Buliej- just wanted to lend my support to you really, i think it's disgraceful things like that can fall through the cracks!!

((((((((Buliej))))))))

I am furious for you. Every issue is important when it comes to IVF success and it is just NOT ON that this was missed.

If the FS wont perscribe the clexane, it might be time to find one who does.

I am so sorry you are going through this carp.

More hugs,

Sammie

Thanks everyone. I finally spoke to my FS - am on MegaFolate (already in hand) and will be on clexane and aspirin as well. My single concern that lingers in the back of my mind is that the inability to properly absorb folic acid could have been a reason for my poor quality eggs...

by the way, FS blamed the lab - said she was going to write them a letter of complaint for not forwarding the results..blah blah - I know she has a lot of patients, but I was able to see that the test results were missing when I took a look at everything and I'm certainly not used to reading the computer print outs that come from labs. I think these FS (or some) take on too many patients.

Don't fret my friend...
Not taking the Megafol 5 will not have changed your egg quality. Higher doses of folate can help prevent neural tube defects such as spina bifida. These only occur as the embryo develops.
It's great you are now on them, but a lot of foods are also fortified with Folate as well..so together with the .5 you were taking would have been ok.
I hope this can alleviate your stress a little now.
I know you are upset - and totally understand..but know that ....thank goodness...you have not been physically affected by the lack of results..