How exactly does one confirm that they are, indeed, a MTHFR? It's a question that I get often. So let's get to the basics. Based on your health history, you may suspect that you and/or your children have the MTHFR mutation. However, without formal DNA testing, you can't know for certain. We'll cover the ways you can go about getting that testing done in this article.
First off, there's been a lot of talk about certain midline defects found at birth as being indicators of having the MTHFR mutation. Some examples are the stork bite, which is a red mark found on the back of the neck, sugar bug, which is a prominent blue vein on the nose, and a sacral dimple, which is an indentation at the base of the spine. I will not go as far as to say that there is no connection between these physical markers and the MTHFR mutation, however, I do not believe they can be relied on or act as a replacement for formal DNA testing. Many children are born with these physical features and do not have the MTHFR mutation. Others do not have these features, yet have the mutation. I am an example of someone who is homozygous for the MTHFR C677T mutation and did not have any of these physical indicators as an infant. If your child has these markings and you're concerned he/she may have the MTHFR mutation, I encourage you to follow through with the steps below to confirm.
There is only one way to know for certain if you have an MTHFR mutation, and that is formal DNA testing. However, there are two ways you can go about getting that testing done:
1. Through a physician
The first way that you can get the DNA testing done is through your physician. If your physician believes that you have enough symptoms to warrant ordering blood work to test for the MTHFR mutation, it may be covered by your insurance. However, if it is not covered by insurance, the test can unfortunately be pretty costly. More often that not, a functional medicine physician will be more likely to order this test for you than a traditional medicine doctor. However, it is not unheard of for doctors who practice Western medicine to be aware of this mutation and test for it.
Unfortunately, many people who go this route have already reached a health crisis due to their untreated condition. It's difficult to justify ordering blood work without having reached that point and having a variety of unexplainable symptoms to back it up. However, once again, a functional medicine physician may be more open to ordering that blood work for you as a preventative measure, rather than a reaction to your health having already crumbled.
2. Through a third party testing kit
If you have not been able to receive an order for blood work through a physician, you still have options. You can order your own DNA test through a third party. These kits test your DNA via a saliva sample. The most popular choice is 23andMe.
This option is great for people who suspect that they may have the mutation, but have not yet manifested enough symptoms to warrant testing through their physician. It's also a great option for parents who want to be empowered through knowledge to make the best possible choices for their children through means of prevention, rather than waiting for symptoms to manifest.
If suspect you have the MTHFR mutation but can't get the testing done through your physician and can't afford to order a third party testing kit, don't give up! I encourage you to still make lifestyle changes outlined on this blog, as well as other MTHFR resources, as if you knew for certain you have it! Really, the changes that people with the MTHFR mutation need to make are healthy changes for anyone. The only difference is that people with this mutation have more immediately at stake if they don't heed to wisdom.
Are you a certified bad MTHFR? How did you go about getting your diagnostic testing done? Tell us about it!