I work with women regularly who are trying to conceive and most of them come in with a history of miscarriage. It's a heartbreaking event no matter how early on it happens. It's more than just about the loss of the child that was expected and anticipated- it's also about all the questions and doubts that go through the mind of the parents (and particularly the mother). "What did I do wrong? What should I have done differently?"
Believe me, I understand. My first pregnancy ended at 4.5 weeks. I hadn't even told my husband since after months of trying I wanted to be absolutely sure. The test had that faint line, but maybe it was wrong? Ok, who am I kidding... Maybe ALL five tests I took were wrong! (No expectant mother does only one test...) It was disappointing but I was thankful that it happened so early and that I didn't wait long for a second chance. I got pregnant again the following month and the end result: a beautiful, sassy little girl (that would be her a couple years ago in the photo). However, the fear of that first miscarriage was there through the entire process. I know it's present for most mothers, but those who have experienced it first hand are hyper-aware of how delicate a balance pregnancy is.
What are the top two recommendations I have for those trying to conceive (or even who are already pregnant)? One: genetic testing, specifically for a gene called MTHFR. Two: Progesterone levels. Two simple tests that I truly feel would results in many more healthy pregnancies and full-term babies.
What is this MTHFR gene? The full name is methylenetetrahydrofolate reductase. Whew.
Aside from being a mouthful and eliciting frequent giggles from clients who like that it sounds like a profane phrase, it has to do with a process called methylation and, more specifically, with the direct processing of B vitamins and folate/ folic acid. Nearly half of the population has some defect of this gene (even higher if you are Chinese, Italian, or Mexican) which means that the folic acid in that prenatal vitamin you are taking may actually be detrimental to your health. There are two main types of defects and you can have zero, one, or two copies of each. MTHFR defects result in this methylation process generally being slowed down, which means your body ends up with trafic jams in the detoxification process, neurotransmitter production, antioxidant production, and other important biological functions. While I could (and probably will) write much, much more on this gene, the most important item to note right now is that a major side effect of untreated MTHFR mutations can be miscarriages.
Soon after becoming a mother I began delving into genetics more. I'm the child of two only children, both of whom were orphans by the time I was born. My family history is minimal at best and I wanted to better understand what risks my daughter might have. At the time www.23andme.com offered risk analysis for various diseases and I found it fascinating that I could get such an intimate look at what makes me ME. This was my first introduction to the MTHFR gene and my previous miscarriage suddenly made more sense. Guess who has two copies?
MTHFR defects are easy to test for with blood or saliva. However, given that a blood test only testing for the two main types of defects costs $150 and you can find out about that gene, plus a whole lot of others, for $99 through www.23andme.com, I recommend that route (and no affiliation with that company, by the way) most of the time.
2 years after having my daughter, I was pregnant again. At ten weeks along I woke up in the night cramping and bleeding. Crap again. I spent the night crying and preparing myself for the ultrasound we had already (conveniently) scheduled for the next morning. I told my husband in the morning to be ready to hear the words "not viable" or "no heartbeat". I talked myself through all the logic but I was beyond sad. In the end luck was actually on my side. Heartbeat. Healthy. Just a ruptured ovarian cyst. However, because of the spotting we looked at my progesterone levels, which were too low. If that cyst hadn't ruptured, there was a good chance I would have lost the pregnancy anyway due to my progesterone levels. There are certain genetic defects (noteably one called MAO A) that can cause naturally low progesterone levels. Once again, thanks mom and dad...two copies.
Progesterone is responsible for many different jobs in the hormone dance, but one of the main jobs is maintaining pregnancy. For anyone who has suffered from "morning" sickness (or, in my case, 24 hr sickness), first of all, I'm sorry. Not. Fun. At. All. Secondly, you may have been told that this was a "good sign" because the elevated progesterone levels are what causes the nausea (along with fatigue, breast tenderness, and other gems) and, while this may have made you want to slap your doctor or midwife, it is, most importantly, a sign of a healthy pregnancy.
Progesterone can also be tested for easily with various forms of testing. If you are planning on becoming pregnant and have fairly regular cycles, I recommend a saliva test done on day 19,20, or 21 of your cycle. If you are already pregnant, a blood test should be done to double check, but please be proactive! I have had several friends suffer through multiple miscarriages and their physicians were still not willing to order the test (which, FYI, costs about $30 if you pay cash, so don't worry about insurance coverage), only to find upon switching providers that their levels were too low to maintain a healthy pregnancy.
The fact is that the most important thing to understand if you have had a miscarriage is that YOU DIDN'T DO ANYTHING WRONG... Grieve, please, but don't blame. These two steps are SO simple and addressing them can take time, but simple changes can also yield great results. Talk to your doctor and if they aren't familiar with MTHFR, find one who is.
Aloha, I'm Dr Sarah Strong, a naturopathic physician in Hilo, HI. I specialize in nutrigenomics, which uses food and nutrients to treat genetic issues and I work with many patients with infertility and chronic diseases. I love puzzles and many of my cases are exactly that. The human body is so complex and disease is often a combination of so many factors, including genetics, diet, lifestyle, mental healthy, environment, and others. I have a beautiful little office overlooking Hilo Bay and also offer online consultations at www.DrSarahStrong.com. When I'm not geeking out on genes I'm probably gardening, cooking, or at the beach. I'm a mother of two beautiful girls who amaze and challenge me daily and help me remember the importance of simplicity and play.