October 8, 2009

MTHFR - no, it's not a shortened name for a swear word

Well I have an additional “issue” to add to my fabulous repertoire of diseases, problems, etc. Let me give a little background to this story.

A year or so ago I got an email from my best friend. One of her friends had been dealing with infertility, and had several miscarriages. She had recently been diagnosed with MTHFR (I’ll explain this more in a second) and was sending an “informational email” out to all of her girl friends so that they could get tested for MTHFR before they started trying to conceive. I didn’t think much of the email at the time, read it, and then deleted it. After our miscarriage a month ago I found myself thinking of that email.

So I did some research (aka- I spent A LOT of time searching on google) and found that people with MTHFR have recurrent miscarriages between week 5 and 6… exactly when we had ours. They also are more tired than usual…uhh hello, I go to bed before 9pm every night and get up at 7 am, only to be tired by 3pm each day.

So I called Dr. O and asked if I could get the blood test done to determine if I had MTHFR. I was first told by the nurse that they had never heard of MTHFR… ugh. A few days later I got a call back from the nurse and was told that yes, I could get the test done but that I would have to pay out of pocket for it because “You haven’t had 3 miscarriages in a row and we don’t typically do any type of testing until after the 3rd miscarriage. So it’s your decision if you want to pay for it yourself”. Okay…. AND “the test has to get sent to Chicago to a DNA testing lab so it will probably be quite expensive, if I were you I would probably wait”. Of course this prompted an immediate call to Matt. What do we do? Most miscarriages are just simply “spontaneous” do we dare pay for this test (probably around $400) even though it probably won’t show anything??!! After lots of talking and praying and finding out we can use some of Matt’s health savings money, we decided to go for it. I felt like I was “that girl” that goes against what the Dr. advised and was being super pushy.

14 days later (today) I got the call… “Your test results are back, and you are positive for the MTHFR gene mutation, you can begin taking one baby aspirin”. I really wanted to say, and now, will you be running that test through my insurance since you told me it “wasn’t needed”? But I didn’t.

A little more information on MTHFR:


MTHFR stands for methylenetetrahydrofolate reductase. This is an enzyme that is involved in amino acid metabolism in the body. MTHFR gene is also responsible for absorbing folate. Common mutations in the MTHFR gene can affect how a person's body processes homocysteine, an amino acid found in the blood. People with MTHFR gene mutations can have a decreased ability to metabolize folic acid and other B vitamins, also, which increases risk of blood clots. MTHFR causes lower folate and B-vitamin levels, which increase the risk of miscarriages by creating tiny blood clots that block nutrient flow to the placenta.

So baby aspirin will help thin my blood out, except that I’m not supposed to take aspirin, only Tylenol, because it can cause ulcers in my intestines because of my Crohn’s Disease. So I have a call into my intestinal dr to see if I can take it daily… of course the nurse thinks I might have to come in for an appointment since he hasn’t seen me in a year to decide if he can safely recommend for or against the aspirin. You’ve got to be kidding me?! An appointment to decide if I can take aspirin, either I can or I can’t lady! My last colonoscopy showed that all of my ulcers were completely healed, so hopefully I get the go ahead and we can be done with this ordeal.

So the plan (tentatively) will be baby aspirin, extra folate, B6 and B12. I’m extremely annoyed that I have yet another “issue” with my body, I’M ONLY TWENTY FIVE, I really shouldn’t have to take this many medicines at such a young age. On the other hand I’m VERY excited to think that 1)our reason for miscarrying may have an easy fix 2) my energy level should be on the climb!

And to make this week even better, I took medicine 10 days ago to get my next cycle to start so that we can start our next round of shots, and it didn't work. It alawys works within 72 hours, and we're now at 10 days with nothing happening. I would love to just move on and start trying again, but apparatnly it's not in the cards for us right now. Seriously... I've had enough.

4 comments:

lowfatlady said...

Good for you for standing up for yourself and getting that test done. I hope that you are able to take the aspirin and they are able to treat you so you can get your bfp.

Husband said...

Update Alert! Bailey can take the aspirin and she didn't have to make that wonderful appointment she was worried aboot.

Jenn said...

Thank you for this post. I read it when it was first posted, and put it in the back of my mind. I just had my 5th miscarrage, and went back to the doctor to figure out 'now what'? He ran this set of tests!! He said it would take a week or so to get the results back. But, I just wanted to say thank you. I also have PCOS.

Kristi said...

I just ran across your blog. I also have PCOS and have had 3 miscarriages. We didn't get any testing on the first two, but the third was confirmed to have a genetic abnormality, which, sadly was a relief for us. I've been meaning to ask my doc about MTHFR testing - not sure if I had it or not.

I did have the standard autoimmune and thrombophilia testing, revealing I have a clotting disorder.

I wish you luck - it's a bumpy road but hopefully worth it in the end.