Caitlin's first visit with a local hematologist was less than stellar! We arrived at the office with a handful of information about her MTHFR as well as her sister's experiences with miscarriages and lovenox shots for a successful pregnancy and her father's factor XII deficiency....let's just say, I am not so sure he was impressed! He questioned us several times as to why we were worried for Caitlin since she seems to be healthy (no previous blood clots and doesn't plan on getting pregnant anytime soon as well as no history of miscarriages). I fail to see the logic in his reactive way of thinking versus our proactive stance....to make a long story short, he did agree to test her for all the other hereditary blood disorders in order to be on the safe side and then talk to us about the what ifs:
Fasting Hemocysinte Levels
Factor V Leiden Mutation
Prothrombine Gene Mutation
Protein C & S Levels
Anti- Thrombin III Level
Factor VIII Level
Factor XII Definciency (tested negative in an earlier visit with OBGYN)
On our way out the door, he did say she could (not should) take extra vitamin B6, B12, 4mg Folic Acid, and baby asprin for the MTHFR. The older research shows this is necessary to everyday health and future pregnancies...however, I made it clear that he needed to update himself on the latest research (which is still controversial) on adding lovenox blood thinners to the medication regime for future successful pregnancies. With Courtney, we are finding this new research is working! As I write this she is currently 15 weeks pregnant with a healthy baby girl and no signs of clotting via her last 4D ultrasound!
Caitlin's next Hemo visit is Oct. 21st, 2009....will update with the test results then.
Wednesday, October 7, 2009
Saturday, September 19, 2009
MTHFR Blood Disorder
Cailtin's Blood test results are in, she has: Homozygous C677T MTHFR blood disorder. Here's what I found on the internet: (Her sister, Courtney has Heterozygous A MTHFR and has experienced 3 miscarriages so far. At the time I am writing this post. Courtney is 3 mos. pregnant and progressing nicely with 40mg. lovenox shots once per day).
MTHFR (Methylene-Tetra-Hydro-Folate-Reductase) mutations- it is important that you find out which category of this mutation you fall under. This mutation could be either:
a) heterozygous (there are two parts to this gene, and each part has two parts, so there is a possiblity of 4 places for mutations. Heterozygous means you have one mutation on one part of the gene. This is the most common and impacts you the least),
b) compound heterozygous (this would be one mutation on each part for a total of two mutations. This would be a little more serious, but still fixable), and
c) homozygous (this is when you have both mutations on one part. This is the most serious of the mutations)
I did some more research and found an interesting site (which I lifted this info from).
"First, with MTHFR, there are two different kinds of mutations, as you've said, and it's possible to be "heterozygous," "compound heterozygous," or "homozygous."
The most severe MTHFR problems occur with homozygous C677T, meaning two copies of the "C" mutation. Next most serious is compound hetero, which means one copy of the "A" mutation and one copy of the "C" mutation. Next most serious is one "C" mutation. After that, it's two "A" mutations. The least serious is a single "A" mutation.
Any and all of these mutations can affect homocysteine levels, but there is much dispute as to whether elevated homocysteine levels are actually needed in order for MTHFR to cause trouble. Many other MTHFR patients have normal homocysteine levels, yet have had implantation problems and/or m/c's due to clotting problems. So it is important to find out your homocysteine levels (although again, normal doesn't necessarily mean all is well). This is a serious field and MTHFR is a serious condition, so consulting an expert is wise.
MTHFR (Methylene-Tetra-Hydro-Folate-Reductase) mutations- it is important that you find out which category of this mutation you fall under. This mutation could be either:
a) heterozygous (there are two parts to this gene, and each part has two parts, so there is a possiblity of 4 places for mutations. Heterozygous means you have one mutation on one part of the gene. This is the most common and impacts you the least),
b) compound heterozygous (this would be one mutation on each part for a total of two mutations. This would be a little more serious, but still fixable), and
c) homozygous (this is when you have both mutations on one part. This is the most serious of the mutations)
I did some more research and found an interesting site (which I lifted this info from).
"First, with MTHFR, there are two different kinds of mutations, as you've said, and it's possible to be "heterozygous," "compound heterozygous," or "homozygous."
The most severe MTHFR problems occur with homozygous C677T, meaning two copies of the "C" mutation. Next most serious is compound hetero, which means one copy of the "A" mutation and one copy of the "C" mutation. Next most serious is one "C" mutation. After that, it's two "A" mutations. The least serious is a single "A" mutation.
Any and all of these mutations can affect homocysteine levels, but there is much dispute as to whether elevated homocysteine levels are actually needed in order for MTHFR to cause trouble. Many other MTHFR patients have normal homocysteine levels, yet have had implantation problems and/or m/c's due to clotting problems. So it is important to find out your homocysteine levels (although again, normal doesn't necessarily mean all is well). This is a serious field and MTHFR is a serious condition, so consulting an expert is wise.
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