My Story of Having the MTHFR Gene Mutation
I Have an MTHFR Gene Mutation
I had never heard of the MTHFR mutation until a almost two years ago when I lost a second child to preterm labor. I wonder how many families can be spared the loss of their children by instituting a routine screening for this not-that-uncommon mutation. A diagnosis and referral to a Perinatologist in the beginning of my pregnancy probably would have saved the lives of my son Jacob, born at 22 weeks, and my daughter Madelyn, born at 25 weeks. It is my hope that the information I have gathered here can help save someone else's child.
My Daughter was Born Too Soon, Too Small
What is MTHFR?
No, it's not an abbreviation for a swear word...
MTHFR is an acronym for Methylenetetrahydrofolate reductase. It is both the name of a gene, and the name of the enzyme which that gene produces. Individuals with a mutated copy of this gene produce an enzyme that is less effective at breaking down the amino-acid homocysteine. The mutation can occur at one of two sites on the gene. Since we receive two copies of each gene, one from our father and one from our mother, there are a few different possibilities for the disorder. The C667T mutation can be heterozygous, one mutated copy, or homozygous, with both genes having the mutation. The same is true for the A1298C mutation. Compound heterozygotes have a single mutation at both the C and A locations. A person with the homozygous C mutation can only produce the defective MTHFR enzyme. These individuals are at the highest risk for developing hyperhomocysteinemia - an excess of homocysteine in the blood, especially if their dietary intake of folate is low. High levels of homocysteine damage the blood vessels, leading to an increased chance of developing blood clots, which in turn elevates the risk of deep vein thrombosis, pulmonary embolism, heart attack and stroke.
MTHFR and Pregnancy
A MTHFR mutation may go undiagnosed until a woman has experienced several pregnancy losses. I was not diagnosed until after my second preterm labor and delivery. Some women with this mutation have trouble conceiving or have early miscarriages. In my case, after receiving the diagnosis I was treated by a Perinatologist who specializes in high-risk pregnancies. I was given Folgard, a Prenatal With DHA Vitamin and a low-dose aspirin regimen before trying to conceive and once my pregnancy was confirmed and my beta HCGs were rising I was switched from the aspirin to Innohep, a low molecular weight heparin daily injection. This therapy was a success, and I had my son full term and without complications on October 1 2010.
What about my child? Do I need to worry for their health?
You took the vitamins and Aspirin and Heparin, and after nine months of worrying finally have your beautiful baby. But now you wonder, "Does my child have this Mutation too?" If you have a homozygous mutation, your child got one of your bad copies of this gene. For heterozygotes, you don't know which copy was passed to your baby. But you don't need to worry (but I know you will anyway) just make sure you child's pediatrician knows of the history. Make sure you give your child a children's multivitamin daily plus a DHA supplement for kids and that will be all they need. If you have a daughter, when she decides to have a child she will need to be tested for the mutation. She will have the benefit of foreknowledge and will hopefully avoid the tragedy so many of us had to endure before we received our diagnoses.
UPDATE; I had my daughter tested through 23andme and she has one MTHFR mutation, as well as oher mutations that affect her ability to get B12. We now give her a sublingual Methylfolate/B12 tablet each morning and a second Methyl B-12 sublingual after school. I've noticed her behavior improves when she takes the suppliments.
Find if you have an MTHFR Mutation or any number of genetic conditions that may affect your health.
I had my daughter and I tested through 23andme.com this summer. I have been learning more about alternative treatments for MTHFR and knowing whether we had other mutations which combine with the health risks seemed to be the next logical step in our path to health. Since our family doctor didn't feel it was necessary to test my daughter at her age (six) this also gave us her MTHFR status. She faired much better that me on the whole, and that is a relief for me. Hopefully, she will never develop health problems related to MTHFR since we are making sure she has the nutrition she needs and avoids exposing herself to environmental toxins from pesticides, processed foods and the like.
As for me, I found that I have several more mutations that elevate my risk for heart disease and blood clots. Knowing this though, will help me take further steps to ensure that I am at my healthiest.
Can you donate Blood with an MTHFR Mutation?
I have been donating blood since high school. After I found out about my MTHFR mutation I wondered if I would still be eligible to donate blood. My daughter Madelyn required multiple transfusions during her short time with us, so I really wanted to donate in her memory. After my iron levels were back up to normal I took a trip to the local Red Cross Donation Center. I spoke with the nurse there, and she told me that I could donate whole blood as long as I wasn't taking any blood thinners, eg. heparin, lovonox, innohep. The aspirin was ok to take for donating whole blood, but not if you want to donate plasma. It feels good to donate blood, even though I end up tearing up each time, thinking about my little girl.
MTHFR and now EDS III as well, yikes!
Since I got my raw DNA data from 23andme, I found out you could run that through a program called Promethease for more health reports. I first addressed the mutations I found that were homozygous figuring those would affect me most. After those, I moved on to heterozygous mutations. One I found had been implicated in something called Ehlers Danlos Syndrome IV. After a quick google search, I learned that a lifetime of strange health issues had all been due to EDS.
So is there any good news? Every cloud has a silver lining.
Believe it or not there are some benefits to this mutation. There is a decreased risk of both colon cancer and leukemia. In fact, scientists are studying the relationship between MTHFR and cancer risk to one day develop a treatment for cancer therapy.
MTHFR Resources You May Find Useful
- Methylenetetrahydrofolate reductase - Wikipedia, the free encyclopedia
Wikipedia's entry on MTHFR. From where I got my main pic.
- MTHFR - methylenetetrahydrofolate reductase (NAD(P)H) - Genetics Home Reference
The National Institute of Health's web site on the MTHFR Mutation.
MTHFR Poll - What Kind of Mutant Are You?
What type of mutation do you have?
Still not sure why you need to worry about Homocysteine? - Not being able to effectively get rid of Homocysteine is a real health risk.
Some doctors seem to downplay the dangers of having high homocysteine levels in your blood. This will inform you of the risks to your health if you don't effectively manage your condition.
© 2010 Jackie Block