Thursday, December 10, 2015

Genetics...Part 2

*I apologize in advance. This post about all things MTHFR might be a little too science-y and boring, but I find this all extremely fascinating, especially the more I learn about it.*

One of the things I wanted to do after figuring out Trent has the MTHFR gene mutation was figure out where it originated and also if Drew has it as well. I figured I'd eventually do the same spit test Trent did, but when I went in for my annual and talked about it with my OB, she recommended we do it now with blood work. {I assumed I would be the one who passed it along, and both my OB and my primary care physician thought my history of post-partum was a good indicator it was me as well.}

And....drumroll please...

It's me!!!!!

For a simple science lesson, there are 2 problematic mutations on the MTHFR gene - one is at the A1298C point and the other is at C677T {which is more serious}. Given that we get a set of genes from each of our parents, a person has the potential to have 2 copies of each mutation. Trent has 1 copy of the C677T mutation {so he's heterozygous}, and I have 1 copy of each mutation {so I'm compound heterozygous}. The number of mutations you have and which gene your mutation is on determines how well you methylate. If you want to read more about what the mutation can do, this is a pretty good article that isn't too confusing.

The below chart shows approximately how well someone methylates with each mutation. {I circled me and Trent.} 

As with any condition out there, some people have a lot of symptoms that are connected to MTHFR while others have few. From what I'm reading, Trent's symptoms should have been a flashing light for anyone who knows about MTHFR. Luckily for me, I have a friend who does - and she has the same mutations as me - I find that highly amusing. {I was talking to her last night and told her that she literally changed my life and Trent's life. I will forever be indebted to her for her constant nagging gentle pushing to get Trent tested.}

This leads to such a waterfall of thoughts and emotions - mostly good and exciting. My sister wants to get herself tested {given I have 2 mutations, it's highly likely she has some} - could that explain her multiple miscarriages? We want our parents to get tested - I {we?} obviously got this from somewhere and if this simple test could help prevent Alzheimer's, heart disease, cancer {among so many things} for my parents, wouldn't that be amazing? Does this explain my mother's gut issues? What positive things could this potentially do for my niece and nephews?

It also frustrates me so much that so few people in the medical community know about this. First, when I think of all the doctors and specialists we saw for Trent and not one of them suggested this testing, I get really irritated. How many other children are these neurologists, behavioral therapists, and PhDs treating that a simple blood test and a daily dose of folate could help? Second, I have 3 friends who all have the homozygous mutation for C677T. All 3 have some combination of a history of fertility struggles and miscarriages. One friend only got tested because I suggested it {and her fertility doctor downplayed the results}. Could her mutations be the cause of her 3 unexplained {and devastating} miscarriages? And knowing she's homozygous, she knows each of her parents have at least 1 mutation - does this explain some of the debilitating issues happening to her mom right now? When will this testing become commonplace? It definitely needs to be NOW!

I checked in with my doctor to confirm my protocol and ask about Drew. I am curious if, at a minimum, she has a 50% chance of having a mutation {if Brent has any mutations, her chances just rise}, should we test her now or treat her in any way. Our doctor said to go ahead and start using the cream we use on Trent, and we can decide at a later date to test her.

So I now spend a lot of time learning {and talking} about MTHFR. I think it's pretty darn fascinating if you can't tell by how long this post is. If you are still reading this, you either have a mutation {hi Laura! haha} or just really like my blog. {grin}


Hanna Roach said...

Or you're still reading if you're a science geek and find it fascinating just because! I'm glad you had a friend who could help and that there are things you can do to make it better. Makes me wonder how common it really is...

Kathryn Bagley said...

I wish I understood science or enjoyed it enough to want to understand! Glad you got some answers!! Can you do a blog on what some of the remedies are or techniques to helping with it?

Courtney said...

Yep- we dealt with secondary infertility and had a failed IVF + Miscarriage for 3+ years, before my naturopath discovered a homozygous MTHFR mutation for me. A few months later after being on an additional B complex vitamin and adding in extra folate into my diet, I was pregnant all on my own. Why a RE wouldn't test or look for that blows my mind. I'm highly confident that it was a huge contributing part in my issues. I hope that as long as I continue the additional vitamins, knowing now that my body doesn't absorb or process them well on my own, that it will help fix those problems in the future.

Karen Peterson said...

I think this stuff is very interesting. And I'm so glad you have some answers!