1227139 tn?1462338230

My New MTHFR diagnosis, delima and treatment

Hi all,

I thought I would post a quick update on my final part to MTHFR testing.  After much debate and blocks by my health care system (I was told that Canada didn't test for A1298C despite it's relevancy and commonality with problems) I pushed and pushed and finally got tested for the second common variant.  (Originally I was only tested for C677T and was positive for one copy (heterozygous) of the variant).

I have a new diagnosis, I am not C677T Heterozygous, I am actually Compound Heterozygous.  Meaning I have one copy of C677T and one copy of A1298C.  The interesting thing about this combination which my health care providers fail to realize, (which is why I pushed so hard to get the treatment specific to those who have homozygous variants) is that a person who has a compound heterozygous variants has the same risks and treatments as those who have a homozygous variant.

I had a site which I think I had in the past mentioned as a resource that states:  

"There are two common genetic MTHFR mutations. If you have one mutation only, you are heterozygous. It is reported that nearly half the population is MTHFR heterozygous. - it is nothing abnormal. If you have two copies of the same mutation, you are homozygous. Homozygotes can have elevated homocysteine levels in maternal blood and amniotic fluid. If you have one copy each of the two different mutations, you are compound heterozygotes. Compound heterozygotes have the same treatment and risk level as homozygotes. If you have neither mutation, you are negative and don't need to worry about MTHFR."

Now, originally I was on my 5mg Folic, Low Dose baby aspirin, 100mg Vitamin B complex and also LOVENOX 40mg once a day.  Now I have been advised to take 30mgs twice a day.  I think this is an appropriate dosage change, but I have had differing opinions from 3 specialists, and not all agree with the treatment using Lovenox.  The interesting thing about that is, not one was willing to suggest I stop taking it though.  Hummmm.  All I can say is that I am very glad that Lovenox is available, that I am taking the correct dosage now, and that things are well at 16 weeks pregnant (after 3 consecutive losses all first trimester)!  
I can't stress enough to all those out there who have had recurrent pregnancy loss, problems conceiving or TTC, or other inexplicable health concerns with clotting or vascular - to delve deeper into it until you are satisfied with the answer.  It just isn't worth it to always accept the opinions of one doctor on a topic that has so much wide spread controversy.  I am not suggesting that you discount what your physicians tell you, but I am suggesting that you take your health into your own hands and ensure that every possible avenue has been looked at when it comes to a diagnosis and also more importantly treatments.  The obvious point to me that brings me to this conclusion is if it were simply so definitive that MTHFR is unrelated to pregnancy complications when it really is obscure then doctors would be able to reliably suggest that a treatment regimen for MTHFR is definitely not necessary.  This isn't the case though.  All I know is there is definitive controversy.  Because there are so many contradictory studies out there, then that should also suggest to you that if there is so much debate either way, nothing has been proven or disproved either.  And until that is completely ruled out, I refuse to believe that there is no association to pregnancy complications and MTHFR.  The reality is, genetics, DNA, blood disorders, clotting and MTHFR as a whole is a very new territory being investigated or proven 100% in the treatment area.  And in reality from what I have experienced (myself and others who I know have been put on the same treatment as I have been) treatment works.  

Now in the end, if it is simply all coincidence, I am rather happy to have said I had treatment and was part of a huge coincidence rather then say I was denied/neglected treatment and still suffering losses.   I wish it were that simple for everyone though and the truth is, it often isn't.  For everyone still trying to get proper treatment, don't give up.  For every doctor out there who doesn't believe that Lovenox helps or is even necessary, there is one who does.  Keep looking.

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;
Pregnancy: June 2011 Community Leader
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