Tuesday, February 7, 2017

Henry's Genetic Issues

It turns out that Henry does have a genetic issue going on. We had him do the MTHFR test (a simple finger prick). Apparently his C671T allele (the larger one) is normal, but his A1298C is homozygous. It is missing the allele from each parent. It means that his body's ability to process folic acid is decreased by 30%. The psychiatrist explained that it's as if he only has 70% control of his behavior (because our body needs to process folic acid properly in order to support the production of important neuro-transmitters that are connected to self-regulation). (Editor's Note: All of this is coming from my scribbled, hand-written notes, so any part of this is not necessarily 100% accurate; it's a lot to follow!). Apparently this gene is linked to all sorts of things like addiction, depression, anxiety, thyroid issues, and heart disease. 

She prescribed him L-methylfolate, which is folic acid that has already been more processed for the body. He takes 15mg a day. For the first week and a half, it seemed to cause him headaches. I was worried that it was too much for his little body and thought about stopping it, but part of me wanted to keep him on it for at least 6-8 weeks, which is how long she says it takes to see its full impact. 

There was one day when we ran out of the pill (between the samples and his actual prescription). He didn't take it in the morning like he normally does. That afternoon, he had the kind of fit that he hasn't had in several months. The next morning, we gave him his pill like normal. The next morning, he woke himself up, got himself dressed independently, and then made breakfast for himself--all before we even got out of bed. I know this evidence is entirely anecdotal and completely unscientific, but it's the only data I have, and I'm compelled to keep him on it. 

I'll keep you updated about how it goes for us! 

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Kelly said...

Wow, Sara! I hope this continues to help and he's able to process it well! I'm so happy for you to be getting some answers.

Anonymous said...

I honestly thought he *must* have some physical issue since you are so self aware that I doubt he would just be "rebelling" against authority. Hope he stays this way! I'm sure it's a big relief for the whole family knowing he can be helped :)

Anthropolochic said...

This must be very stressful. Sorry that you guys are going through this.

Re: the scribbled notes. The way we discuss alleles is in terms of frequency. A major allele is a high frequency allele, a minor allele is lower, but usually above 5% in the population. When we write them out we write the major/normal - nucleotide position - change/alternate/minor allele. So C671T means the major allele at position 671 is cytosine, and the alternative of interest is a thymine. If your psychiatrist is saying that "larger one is normal" she/he likely means that Henry is carrying cytosine at position 671 in the gene MHTFR. Based on what you have said here it sounds like Henry is either homozygous minor allele at position 1298 (meaning he has two copies of a cytosine at position 1298) or he has a deletion at position 1298, which would alter the protein assembly from that point onwards. Getting that clarified could be important.

Either way, you should know that these single nucleotide polymorphisms (SNPs) are not necessarily causative. They are markers for associations - so this particular gene might not be your target. The SNP but could be linked to changes in nearby genomic regions/genes. As you dig through the literature (as I suspect you have been doing), keep that in mind.

Here is the OMIM entry (OMIM is a hand curated collection of known variations in human genes and their connections to disease. It is maintained by the National Institutes of Health) on MTHFR.

and the gene card, which links out to curated protein databases where you can find more information on function and known variants


Sara E. Cotner said...

Thanks, Everyone!

Anthropolochic, can we talk on the phone about this after I get Henry's full report? You sound so knowledgeable and it's all still very esoteric to me!

Anthropolochic said...

Absolutely. Let me know when you have the info.

Casandra said...

I just watched Dr. Aviva Romm's through explanation of MTHFR and Folate.
It's long but it has great info for women and children.


violarulz/ducksandbooks said...

I also am a heterozygous MTHFR person. I wish I'd known sooner, when my husband and I first started trying to get pregnant (2 years ago) I started taking prenatal vitamins and just kept taking them and not getting pregnant. I also got draggier and foggier and just less me. It was like my prenatals were a mild depressant. I was pregnant twice, but miscarried at 6 and 10 weeks, a year apart. My OBGYN referred me to a reproductive endocrinologist who ran what he called "the loss panel," only some of which my insurance covered. That's how I found out I have MTHFR and excess clotting factors. Now I'm on baby aspirin (for the clotting) and take a vitamin B/folate supplement for the MTHFR.

I learned a lot about MTHFR from https://www.seekinghealth.com and found a supplement that works well for me there too. Just stay out of the comments, there are some cooky ideas there! I started by taking one chewable tablet 2x a day and am now taking one HomosysteX capsule every day with a regular prenatal vitamin, vegan DHA supplement, and a probiotic (boo, recurring yeast infections). I feel like me again and after 2 months on the new supplement got pregnant again and am now 26 weeks!

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