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).

 

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).