Taking charge and figuring out our story

When our last pregnancy was deemed non-viable and doctors, as usual, were uncooperative, I tried to take measures on my own hands by ordering an online personal genome test. My main focus was to check for MTHFR mutations as well as inherent thrombophilias.

We made the order on the website 23andMe, which is very limited on the healthy related results, so it required some digging and use of other websites before I could get the results I was looking for. I needed to use the raw data, so I had to find the exact SNP “adress”. It took a bit of research figuring these things out, so I’ll post it in here in case it helps someone else (though I guess it’s so much easier to simply ask a doctor to run these tests, if he’s willing). If one is only interested on the MTHFR, I’d recommend using the site GeneticGenie, it’s free and easy to use.

These are my results so far:

Commonly used name SNP My result Mutation
MTHFR C677T rs1801133 CT Heterozygous
MTHFR A1298C rs1801131 AC Heterozygous
Factor V Leiden rs6025 GG None
Prothrombin F2 G20210A rs1799963 GG None
Antithrombin III SERPINC rs2227589 AG Heterozygous
Leptin 2549C/A rs7799039 AG Heterozygous
TNF alpha 238 rs361525 GG None

According to the tests, I’m compound heterozygous for MTHFR mutation. Regarding the inherent thrombophilias, I don’t have mutation for the two mostly associated with RPL (factor V Leiden and factor II), but I’m heterozygous for Antithrombin III, which has been shown to be correlated with RPL in several articles (however I must admit my research on this was not very thorough).

Leptin mutation has also been associated with RPL in some studies, but it doesn’t seem to be as widely accepted as the other mutations. TNF 238 is mentioned as a protective mutation against RPL, but I don’t have it.

I’ve also checked my husband’s genome for the MTHFR mutation and he is homozygous to C977T and doesn’t have the mutation A1298C. I’m not sure, however, what would be the implications of his genomes (and those of the baby) during the pregnancy, or if only my results matter.

Now, the question is: what should I do with these results. When I ordered it, my idea was to discuss them with our RE, but since she has shown very little interest on anything rather than her usual procedures, I don’t think it’d be a fruitful approach. As a preventive measure, I had already changed my prenatal vitamins to one containing bio-active forms of complex B. I’m not sure whether I should now increase the folate and B12 doses, though. And since I have the C977T mutation I’d like to get my homocysteine levels checked out.

I’m considering discussing these things with my GP on Thursday. I already have on my list for that appointment: asking for a referral to the RPL specialist (top priority); discussing my elevated levels on anti-thyroglobulin antibodies and asking for a referral to an endocrinologist; and asking for testing for gluten intolerance (celiac disease), as it’s been associated with RPL too and I have IBS (though mild). Adding MTHFR discussions and yet another test request is likely too much. I think I’ll see how she responds to my other requests first. If she gives me the referral to the specialist, I could wait to discuss these things with him. Anyone has other suggestions?

Besides the medical related functions, the genome mapping comes with an ancestry feature. I thought that was very interesting in my case, since I’m from South America which is truly a genetic and cultural melting pot. See below and judge for yourself (I only modified my real name on the pictures, for anonymity).

ru_ancestry ru_ancestry_list

Seems like I have bits from almost all over the world! Maybe that explains my passion for travelling and living in different countries, it’s in my blood! I was very intrigued by the Oceanian marker, that I would never have guessed.

My husband’s ancestry map is a lot more “boring”, he’s 99.7% european. It was also a little reassuring to see that we have no markers in common, so we’re in no way blood related (or as far as they test it)!

Another interesting fact came from the analysis of my mitocondrial DNA. It showed that my oldest female ancestor came from Siberia down to North America and then South America (meaning she’s a Native American) over 12000 years ago.

It’s fun to think about how much of our personal history is written in every cell of our body; and then imagine how it will combine together to become our babies’ own story (hopefully).


11 thoughts on “Taking charge and figuring out our story

  1. Hello,

    I have homo MTHFR C which is considered worse than hetero. I was tested thru CCRM and they tested me for homocysteine bc of the MTHFR and it was normal. So my treatment was to be on Folgard before and thru pregnancy. It’s kind of inconclusive as to whether the MTHFR contributed to my 2 mcs (I was a lot older than you, and the literature is not unequivocal) but it could have caused neural tube defects in a pregnancy so I’m glad I was tested.

    Your husband’s MTHFR would of course pass on to any child but wouldn’t affect your pregnancy.

    If you can swing it I highly recommend ccrm. They are very thorough.

    Liked by 1 person

    • Thanks for sharing! I’m sorry about your losses. I don’t really expect the MTHFR to explain all our losses in my case, but if it’s one factor contributing to it, then I’d like to have it addressed. Maybe I’ll switch to Folgard, so many people has recommended it to me.


  2. Hey! Very interesting information. Have you considered looking into a genetic counselor? They may be able to help you understand your results, although I’m not sure how you find one without a referral from a doctor. Try to find one that specializes in perinatal.

    Liked by 1 person

    • I don’t think it will be an easy task finding a geneticist without a referral! So far I’m hoping I can see a RPL specialist and discuss it him, maybe he can then refer me to a geneticist. But I’ll keep on my mind, thank you for your suggestion!


      • A geneticist is a doctor and a genetic counselor is someone with a master’s degree (at least in the US). They are trained to understand different genetic conditions and then explain the results and offer various options to the person or couple they are counseling. I did a quick google search and there is a website http://www.informeddna.com/for-patients that will schedule a phone consult. I have no idea what it costs but I wanted to pass along that info if it may help you out. Good luck!

        Liked by 1 person

  3. You’re outside my depth, but I know that Dr. Braverman in NY has a list of OBs he works with — I only know this from the spiritbabycomehome blog. There are a couple OBs near me I considered going to for the immune system testing and stuff after my RPL diagnosis. Those OBs are definitely going to be more open to stuff like this.

    Liked by 1 person

  4. Pingback: What is wrong with me | Recurrently Unlucky

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