It was recently suggested that my siblings and I get some genetic testing done after my sisters recent bilateral pulmonary embolism. (that is a technical term for blood clots in both lungs.) She was very blessed that it all ended up the way it did. Blood clots are deadly and very serious.
I had my testing done and was fortunate enough to be negative for the Factor V mutation.
However, I was diagnosed as "Compound Heterozygeous MTHFR"
Meaning I have two mutations in different locations on the same gene.
What does that mean?
Well it depends on who you ask apparently.
Some doctors don't believe it makes much of a difference. Others disagree.
Here is a bunch of technical information on the MTHFR gene (Chromosome 1) from wikipedia if you are interested.
Basically it states that Compound Heterozygotes "does its job a bit less well than the normal MTHFR."
Okay... what does that mean???
There is more information on this site about it. It is a little more "readable" to the common person who wasn't trained in genetics.
"The two common MTHFR gene mutations occur at specific locations called “positions” along the gene. The one we generally test for is located at position 677. At this location, one amino acid base pair is different, in that Cytosine is replaced by Thymine. This mutation is thus called C677T. Another mutation we test for occurs at position 1298. At this location, Adenine is replaced by Cytosine and is therefore called A1298C."
"MTHFR mutations are common. The mutations can be “heterozygous” meaning they occur only on one strand or “allele” of the chromosome, or they can be “homozygous”, occurring on both alleles. The frequency of a heterozygous C677T mutation is common, occurring in about 35% of the population. The homozygous C677T mutation is about 5-10% of the population. A mutation in A1298T is more common but is generally less problematic. The homozygous variety of A1298T occurs in 9% of the population. Another mutation involves both the C677T and the A1298T alleles. This is a “compound heterozygous” condition that occurs in approximately 17% of the population."
Now what does that mean in my life?
Currently it doesn't mean a whole lot. But it does explain my recurrent miscarriages.
You can read about those HERE, in My Struggle With Fertility.
The MTHFR mutation can cause recurrent pregnancy loss by causing a clot between the placenta and the uterine wall.
Since we are done having children it will not affect any kind of treatment for that. (Some recommend injections of Lovenox during pregnancy and also an added dose of folate since MTHFR tends to interfer with folate production.)
I went to the hematologist a couple weeks ago to discuss with him how to proceed with this new and exciting information. He did some additional testing on me and it all came back normal - so it seems my only "issue" is the MTHFR mutation. Which is good news.
He put me on a daily regimen of B-complex vitamin and a baby aspirin.
MTHFR can be a cause of early cardiovascular disease and also clotting issues.
He said that a lot of physicians do not treat compound heterozygeous MTHFR with any kind of treatment plan, but he believes in the vitamins and baby asprin and in fact his own brother and sister in law have it and he has them doing the same treatment. (Hey - if the doctor has his own family doing it I'm not gonna argue.)
But all of this new information started me wondering.
Is all this technology that is available that tells us that we could have problems a good thing or a bad thing?
To me, I believe it is a good thing. Now I know what I can do to help myself. When my boys are old enough I will tell them that they have a 50% chance of this genetic mutation and they can decide for themselves if they want to be tested. (My hematologist said that since they are boys that they really won't have to get tested until they are in their 40's when their cardiovascular risk will rise.) However for the female members of my family it is more of an issue - and also for those ones with the Factor V it is really an issue, due to the use of birth control and other hormonal medications.
If a baby aspirin and some vitamins will help me ward off a clot or a heart attack then I am all for it. I want to be here as long as the good Lord allows to me to watch my boys grow up!
Would you want to know if you had a genetic mutation?
6 Comments (A Penny For Your Thoughts!):
It's a double-edged sword, knowing.
At least the treatment is easy for you! How heartbreaking that this could explain your miscarriages.
Sending you lots of love. And a phone call next week. xo
I think some people can handle knowing and some people can't. Not sure most of us could afford all the extra testing. Although personally, I'd like to know.
My husband had a pulmonary embolism that tried its damndest to take his life. It's a great situation for anyone.
Angie,
Are you a member at Babycenter? There is a very large community of women there with MTHFR and repeat pregnancy loss who have been in your shoes.
I agree with Shell that it's a double-edge sword. I would like to know so I could treat it, but sometimes ignorance is bliss.
I would definitely want to know, for all the reasons you talked about it.
So happy for your sister that everything turned out well and happy for you that you only have minor "mutations".
And this may sound weird, but happy that you do have boys becuase i think the worst think about knowing would be to think that I handed something like the pregnancy issue down to my girls.
As a "genetics" person ... I read. then read. then read it again. gibberish!
Anyway - here is something most people don't know. Alexander's chromosomal deletion is 80-90% de-novo... which means .. random. But... 10-20% of the time it came as a translocation from a parent. Directly after Alexander's birth - there was this big debate over weather or not we wanted to get tested. *we are not planning on having more kids.* I said ... NO. We tell everyone it is de-novo.. but we honestly don't know.
Because I'm like you - sometimes it doesn't make a difference... and you can just drive yourself crazy with all the information.
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