Sunday, July 21, 2013

What's in Your Genes?

Well, I certainly know more about myself and I hope that knowledge will pay off. As it turns out I have a heterozygous A1298C single copy mutation of the MTHFR gene. That actually explains alot. It also means that it is highly likely that I have other gene mutations as well. The MTHFR mutation is very common. Research indicates that almost 50% or more of the population has an MTHFR mutation. Essentially this gene provides information on creation of an enzyme that helps in the methylation process, providing processing information for amino acids and protein building blocks in addition it is responsible for reactions necessary to utilize B vitamins, in particular folate. This gene mutation can cause a plethora of symptoms or none at all depending on the individual and a homozygous mutation is considered to be worse. It is also link to a number of chronic diseases including many autoimmune conditions. Here are a couple of helpful websites that may be helpful. Dr. Ben Lynch and the MTHFR gene mutationDr. Amy Yasko, MTHFR Support,    If you are a regular reader and your symptoms are similar to mine it may be something you should get tested for. I hear the treatment can make all the difference in the world. I hope that is true. I will be starting treatment soon, so I'll keep you posted. In addition, gene testing has become more affordable. You can order a panel that will test for a bunch of gene mutations for only $99 at https://www.23andme.com/ We have ordered this panel and I will get results in about 6 weeks. I will keep you posted. I think it will be interesting and helpful to see the results. It really means that medicine can be personalized.

It also turns out that my body really resisted the synthetic thyroid hormones. It became very dangerous for me to stay on them any longer. I had the option of going on natural thyroid hormone, but since I technically do not need to be on it and we tried them to see if they would help improve any of my symptoms, I felt like we gave it a good try, but I wasn't willing to explore any further. I have felt more crappy than normal for the past three months of being on T3/T4. I decided it was time for a break and I can always give it a shot in the future.

My primary Naturopath is back from maternity leave. Yay! It is so nice to have her back and consulting with the other doctors on my case. She knows me so well. That said, I know we still have a long journey ahead and she will be integral along the way.

I've been in alot of pain as of late and realized that while my pilates studio has moved and is in process of opening up a new location, my body is feeling it. I cannot wait to get back to a regular pilates schedule. It has been a few weeks and I am definitely jonesing for a pilates session.

The vitiligo has spread a bit and my docs are putting their heads together for a remedy. We'll see what they come up with. Psoriasis has been flared a bit too, but is getting better now that I'm not on the hormones any longer. I'm still doing a detox and will likely complete the detox some time next week at which time I believe the next step is to ramp back up on the Lyme treatment... I'm very nervous, but ready to move to the next step. Please send me positive thoughts. I'm really hoping my body doesn't have another crazy reaction this time.

Ah, last but not least, the best way to end summer will be a vacation. I'm so excited. We are visiting Sonoma and Muir Woods near the end of next month. We have not been on a real vacation in about 5+ years. We've had some long weekends visiting family, but we don't consider that a vacation. I cannot wait. It is going to be awesome and I get to take a break from my supplements for a week. Yay! If you knew how many things I'm taking, you might be able to appreciate why this seemingly small thing is such a big deal to me. It will make things easier at the airport too. I'll try to share some pics with you next month. 

In good health!

1 comment:

  1. We are family of four all with MTHFR genetic mutations. I am heterozygous a1298C. My sons are heterozygous for a1298c and c677t and my husband is homozygous for c677t - that being said my husband has type one diabetes and has had Vitiligo for about 10 years now....we just received our results back from 23andMe are traveling down the same path as you. You have to pull your raw data from 23andme and run it through the Genetic Genie program or the MTHFR Support site....this report will tell you what all your mutations are. We have gotten to this point and will be meeting with Dr. Tim Jackson - as a phone consult to have the data reports read...$150 per test - he then supplies you with a list of supplements suggested based on your mutations and current symptoms. We will be doing this in the next few weeks. The more reading I do, the more dots are connected regarding the MTHFR mutations and our family symptoms! Best of Luck in your journey!! BTW - have read the Low B12 and zinc issues cause the Vitiligo problems. I am hoping once my husband gets on the proper form B's...his will begin to heal!

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