The year before I conceived my son with Down syndrome I had two ectopic pregnancies and a miscarriage. Each time we had a failed pregnancy the OB told us that “this just happens” and that we “should keep trying”.
We were not told that the methotrexate I was given to stop the ectopic pregnancies from growing depletes folate from the body. We were not instructed to take additional folate before trying to conceive again. We weren’t told that folate deficiency could lead to more ectopic pregnancies, miscarriages, failure to conceive or birth defects like Down syndrome.
After my son was born with Down syndrome I began researching potential causes. I joined groups that talked about the medical aspects of Down syndrome, and the term MTHFR mutation kept coming up.
Someone posted an article about how people with a certain type of MTHFR genetic mutation are unable to convert the synthetic version of folate, typically called folic acid, into folate. Instead, the folic acid plugs the cell walls and blocks the cells from being able to access folate in the body. The article listed a series of birth defects caused by this, and my heart stopped as I read the list.
We were not told that the methotrexate I was given to stop the ectopic pregnancies from growing depletes folate from the body. We were not instructed to take additional folate before trying to conceive again. We weren’t told that folate deficiency could lead to more ectopic pregnancies, miscarriages, failure to conceive or birth defects like Down syndrome.
After my son was born with Down syndrome I began researching potential causes. I joined groups that talked about the medical aspects of Down syndrome, and the term MTHFR mutation kept coming up.
Someone posted an article about how people with a certain type of MTHFR genetic mutation are unable to convert the synthetic version of folate, typically called folic acid, into folate. Instead, the folic acid plugs the cell walls and blocks the cells from being able to access folate in the body. The article listed a series of birth defects caused by this, and my heart stopped as I read the list.
Tongue tie. Photo by Janelle Aby, MD. I had never considered my older son to have any birth defects. He had a very serious tongue-tie, but because it didn’t prevent him from nursing I didn’t think of it when I was asked if I had ever had a child born with a birth defect.
Now, I understood that the tongue-tie was in fact a birth defect. I had given birth to two children with birth defects. The more I read about MTHFR mutations, the more that my health problems, and health problems common in my family, began to make sense.
My ongoing trouble with irritable bowel syndrome, both of my children born with an inability to process wheat or dairy properly, my siblings who began having health issues related to wheat sometime after the government passed a law requiring fortification of all wheat flour with folic acid, one cousin diagnosed with autism, another born with Spina Bifida…the more I looked at it, the more clear the picture was.
Now, I understood that the tongue-tie was in fact a birth defect. I had given birth to two children with birth defects. The more I read about MTHFR mutations, the more that my health problems, and health problems common in my family, began to make sense.
My ongoing trouble with irritable bowel syndrome, both of my children born with an inability to process wheat or dairy properly, my siblings who began having health issues related to wheat sometime after the government passed a law requiring fortification of all wheat flour with folic acid, one cousin diagnosed with autism, another born with Spina Bifida…the more I looked at it, the more clear the picture was.
Methylentetrahydrofolat-Reduktase (MTHFR)
I finally asked my doctor to be tested for an MTHFR mutation. My labs came back showing a whole host of issues. As my doctor read through the list he said “And you’re negative for MTHFR mutations.” I was shocked, and said, “Really? That’s so surprising!” He looked again, “No, I’m sorry, I misread. You actually have two copies of the C677T mutation. But it’s nothing to worry about.”
I’m not sure my doctor fully understood what this gene mutation really meant. And although it was merely confirmation of what I had already suspected, I was devastated.
I sent an email to all of my family members to let them know that I had a genetic mutation called MTHFR and that they should get tested as it is a hereditary condition. I expected that they would be shocked and upset like I had been to find this out, but I didn't hear much of anything back. At this point I think most of them still have not gotten tested, and most of my family members who I've talked to don't seem to be overly concerned by this news for some reason. Only my cousins who have children with medical issues contacted me.
“All I can think is motherfucker!” my cousin whose youngest son has autism wrote me. “Yep!” I wrote back, “Sure is!”
I am just now starting down the path to learn more about what all of this means.
I know that I can’t process toxins like other people; my body is just not able to filter them as well. This is a bummer for me, because I am old enough to have mercury fillings, I grew up surrounded by poorly managed uranium mining on the Navajo reservation and crop spraying during the summers in Illinois. I currently live in Colorado, a state that is fracking as fast as it can.
The only good part about it is that I finally understand why I have had so many hidden health problems for so many years.
Because I have two copies of the C677T gene mutation, I know for a fact that both of my sons have at least one copy. I haven’t had them tested yet to find out, but in the meantime I’ve taken all forms of synthetic folic acid out of our diet, and I’ve changed to a multivitamin that contains the natural form of folate - methylfolate. (Here's a list of prenatal vitamins for people with MTHFR mutations)
I am not doing significantly better yet, and am still in the process of figuring out what I need to do to help my body now that I know this information.
If you are struggling with infertility issues, have had a miscarriage or a child born with a neural tube defect, please ask your doctor to test you for an MTHFR mutation. And please share this information with anyone you know that is trying to conceive.
Eventually I hope that prenatal vitamins containing synthetic folic acid are just taken off the market. But in the meantime, it’s important to get this information out. I just wish my doctors had told me about this years ago. It would have saved me so much heartache.
I’m not sure my doctor fully understood what this gene mutation really meant. And although it was merely confirmation of what I had already suspected, I was devastated.
I sent an email to all of my family members to let them know that I had a genetic mutation called MTHFR and that they should get tested as it is a hereditary condition. I expected that they would be shocked and upset like I had been to find this out, but I didn't hear much of anything back. At this point I think most of them still have not gotten tested, and most of my family members who I've talked to don't seem to be overly concerned by this news for some reason. Only my cousins who have children with medical issues contacted me.
“All I can think is motherfucker!” my cousin whose youngest son has autism wrote me. “Yep!” I wrote back, “Sure is!”
I am just now starting down the path to learn more about what all of this means.
I know that I can’t process toxins like other people; my body is just not able to filter them as well. This is a bummer for me, because I am old enough to have mercury fillings, I grew up surrounded by poorly managed uranium mining on the Navajo reservation and crop spraying during the summers in Illinois. I currently live in Colorado, a state that is fracking as fast as it can.
The only good part about it is that I finally understand why I have had so many hidden health problems for so many years.
Because I have two copies of the C677T gene mutation, I know for a fact that both of my sons have at least one copy. I haven’t had them tested yet to find out, but in the meantime I’ve taken all forms of synthetic folic acid out of our diet, and I’ve changed to a multivitamin that contains the natural form of folate - methylfolate. (Here's a list of prenatal vitamins for people with MTHFR mutations)
I am not doing significantly better yet, and am still in the process of figuring out what I need to do to help my body now that I know this information.
If you are struggling with infertility issues, have had a miscarriage or a child born with a neural tube defect, please ask your doctor to test you for an MTHFR mutation. And please share this information with anyone you know that is trying to conceive.
Eventually I hope that prenatal vitamins containing synthetic folic acid are just taken off the market. But in the meantime, it’s important to get this information out. I just wish my doctors had told me about this years ago. It would have saved me so much heartache.
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