Sunday, April 26, 2009

MOTHER F**CKER

Made you look! HAHA! Just kidding, not I did not just swear at you, its actually a gene mutation that I have. MTHFR, looks a lot like Mother F**cker doesn't it? The long name is Methlyenetetrahydrifikate reductace (MTHFR) and it is a key enzyme in the metabolism of homocystine. Mutation sin the MTHFR gene have been reported as causes of hyperhomcysteinemia. The most common MTHFR mutation , C^&&T, is present in homozygous state in 5-10% of the general Caucasian population. Homozygous individuals are predisposed to developing hyperhomocysteinemia, particularly when deficient in foliate. I am oh so lucky to have this gene mutation. Which means that I have be on extra high doses of folic acid (5 times what the normal person takes) in order to protect my body and my baby. Folic acid helps to form the spine in the fetus, so not having enough folic acid could cause birth defects. I also will have to be on blood thinner once pregnancy is confirmed, via blood test. The blood thinner that is most frequently used is Lovenex, and it is an injectible medication. So needless to say, after shooting up for weeks prior to IVF, I will be shooting up for 40 weeks while pregnant. Not that I mind, if I had to take 100 shots a day to protect my child I would do it.

Having this gene mutation puts me at higher risk for developing blood clots and therefore late 2nd and 3rd trimester miscarriages. So the blood thinners are key in me having a successful pregnancy. There are a lot of horror stories on the Internet, however the thing to remember is that these horror stories are from people who did not know that they have the mutation, so knowing that I have this is very important in combating it. My doctor has been all over this and has been very proactive in treating my mutation.

I think what is so hard about this is that I will never have a easy pregnancy that is stress free. Not only have I had to jump through hoops to get pregnant- but once pregnant I will have to be seen by a high risk OBGYN, and seen almost weekly to make sure that they baby is okay. In a way I am happy because I will get lots of extra attention. This also makes me feel like this is it- with all my issues we may not be doing this again, this is where my hopes of having twins come in- my body may not be able to have another child after this. I don't want to worry about that right now, my goal at this time is to walk away with a healthy baby, if it's more then one then that's a bonus.

I really had to push to have the blood tests done that caught my gene mutation, and without this information I could have had one devastating miscarriage after another. So I really want women out there to be your own advocate, and talk to your doctor, especially if you have been suffering from miscarriages demand to have the repeat pregnancy loss blood panel done. It may answer all your questions.
Don't stop asking questions and demand answers, this is your body and your baby you are fighting for.

2 comments:

Pat Robinson said...

I wanted to be certain that you are aware of the need for 5-MTHF rather than folic acid (ie. folgard) supplementation. http://www.ncbi.nlm.nih.gov/pubmed/16940192

My recommendation is food forms of folate: romaine lettuce, spinach, asparagus, turnip greens, mustard greens, calf's liver, parsley, collard greens, broccoli, cauliflower, beets, lentils and beans. http://www.whfoods.com/genpage.php?tname=nutrient&dbid=63

My interest in MTHFR grew due to immune issues in our child, homocysteine issues in dh, and my mom's pancreatic cancer diagnosis this year.

5-MTHF, a bioactive form of folate. Although synthetic folic acid is the common form of "folate" used for supplementation and food fortification, it must be converted to 5-methyltetrahydrofolate (5-MTHF) by the intestines and liver to become biologically useful to cells.

However, as many as half of all Americans may have a defective gene called methylenetetrahydrofolate reductase (MTHFR) that impairs their ability to fully methylate folate. Unmetabolized folic acid that enters the bloodstream cannot be used by cells. Individuals who inherit MTHFR mutations from both parents are particularly vulnerable to folate deficiency. Insufficient folate is linked to greater risk of birth defects and other health problems caused by DNA damage. It can also cause homocysteine elevations, which can damage the inner lining of blood vessels, increase blood clotting, oxidize LDL cholesterol, and promote inflammation, leading to adverse affects on cardiovascular, neurological, skeletal, endocrine, and digestive health.

Advantages of Bioactive Folate vs Synthetic Folic Acid

5-MTHF is...

• 5-Methyltetrahydrofate, the naturally-occurring, predominant form of folate

• Directly usable by the body, requiring no extra steps to be absorbed and enter circulation

• The only folate that can cross the blood-brain barrier

• Directly involved in methylation reactions and promoting normal homocysteine

• A superior alternative to folic acid


http://www.mindmeister.com/12721370

http://atlasgeneticsoncology.org/Genes/MTHFRID41448ch1p36.html

http://www.detoxpuzzle.com/mthfr.php

http://www.rawlins.org/mthfr/mthfr.html

http://nwhealthcare.net/index.php?id=40


I was a critical care nurse for 17 years. I'm interested in helping more young families to understand the importance of food folate to health. You can read more of my posts related to health and healing on Mothering.com. I am WuWei there. Or on our site "Heal Thyself". http://heal-thyself.ning.com/


Take great care,


Pat Robinson

Ooh Belle said...

Great post, thankyou