1227139 tn?1462334630

All about my own journey with MTHFR

Hi everyone,

I thought I would start off by introducing myself and my genetic mutation variant C677T.
While C677T is one of the two common MTHFR variants it is the most problematic of the variants because of its relationship to clotting and the blood disorder Antiphospholipid syndrome (Factor V Leiden).  I was tested recently and was diagnosed with one copy of the variant C677T and I am currently being tested for Factor V Leiden.  The other common variant is called A1298C.  There are 24 known variants so far discovered in all.

A point I wanted to add to all of the information out there relating to MTHFR and it's link to miscarriage - is that there are links that are often not discussed or mentioned and that is that it can increase the chances of having a baby with Neural Tube Defects and some Chromosomal Abnormalities.

A little history on me:
My first born son was prenatally diagnosed with Down sydnrome.  (He is the love of our lives).  My second pregnancy ended in fetal demise.  My third pregnancy was a chemical pregnancy (ended near to when my period was actually due)  All these occurrences happened before I was (diagnosed) Dx'ed with MTHFR Heterozygous C677T.  So, regardless of whether you are compound (having both variants) or Hetero or Homo (having 1 copy or 2 of the abnormal variant) the problems can be huge and severe for the woman with it.  MTHFR variants affect each person differently.  It isn't just having one or two copies or the type of variant.  As I have discovered, the levels of Homocysteine do play a factor and some people as a result are at more of a risk for vascular diseases and or clotting then others.  The variant C677T is definitely linked to Thrombophilia which is a hereditary blood clotting disorder, as well as many other vascular health problems.  Often people with C677T also test positive for Factor V Leiden (blood clotting disorder) and can also be linked to Antiphospholipid syndrome which is also responsible for blood clots in the body along with the placenta.  So, after knowing all of this, along with the losses and Down syndrome, I think it's pretty clear that despite having only one copy, a single mutation situation can still be and should be considered quite severe unless there is evidence to the contrary.

I am currently now pregnant with my 4th pregnancy and hopefully being on: 5mg Folic Acid, Low Dose 81mg Baby Aspirin along with 40mg Lovenox injections once a day (for the moment) and a 100mg B complex vitamin once daily - will help this time around.  I am also scheduled to see a high-risk MTHFR specialist to determine if the amount of Lovenox will allow me to actually continue this pregnancy and have this little bean.

Do not think for one second that this mutation is not important.  Do not allow doctors to tell you nothing can be done or should be done.  Find another doctor if they tell you this.  Losing your baby just isn't worth some doctors personal opinion when there are so many studies out there.

For me:
The injections for Lovenox are subcutaneous (just under the skin) and are not painful at all.  They have designed the needles to be very tiny to lessen and minimize any pain and I have to say, they have done a remarkable job.  If you are worried about taking the injections, please keep in mind that they might just save your baby and any clotting (which can be very likely in the placenta) especially if you have the C677T variant.

Good luck to everyone!  If anyone has any questions, I am only too happy to help if I can.  Please feel free to message me or call me.  When you have genetic mutations you literally have to become an expert in your own health.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator;
MTHFR Group Forum Founder/Moderator
2 Responses
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Avatar universal
Hi I'm new to this site & have 677t & 1298 very sick with GI problems.. what do I need to do to get my health back on track?? Please help:(
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Avatar universal
Even many years later, I am able to read your story today. Thank  you for sharing!
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