I’ve been trying to put together the pieces of my health puzzle for a long time now. Every time I find a piece I get excited, only to realize there’s another piece missing. I’ve explored many possibilities and today I worked on the latest: my genes.
Since my doctors didn’t want to run a blood test to see if I have a mutation on the MTHFR gene, I ran a test through 23andme.com. I sent them a tube of my saliva and they put together my raw genetic data. Isn’t technology amazing?
Unfortuantely, that raw data doesn’t make any sense to anyone, so computers must interpret it for us. I asked around, visited sites I trust, and found recommendations for about a half dozen companies that will interpret that raw data. Today I ran my data through two of them.
The first one showed a mutation on the MTHFR genes, and it was one of the mutations that can cause problems. I wasn’t thrilled, but I expected it, and at least it gave me something to work on. Maybe this could be the key that finally takes me to the next health level? There were several other mutations, one of which could and should be addressed. I thought about emailing the report to my naturopath, but I figured I might as well send her everything at once. I wanted to run reports from at least three of the companies, since they cover different information. So I ran the second report.
The second report had significantly more data. Some of it wasn’t surprising. I have genes that predict pale skin (yup) and blue eyes (yup again.) I have a genetic predisposition for Celiac Disease. If you’ve been reading this blog for a while, you know that was no surprise. I have genes that predict heart conditions that run in my family. Ok, there’s nothing shocking in any of this, right? There was really just one big surprise: according to this report, I don’t have any MTHFR mutations!
I had been so excited to conclusively know whether or not I had a MTHFR mutation, and suddenly I was faced with a complete lack of certainty! How frustrating!
I’ll run that third report tomorrow, but to be honest, I probably won’t feel confident in its results, no matter what they are. So I’ll run a fourth. If I have another tie, then what? But with any luck the results will be 3-to-1, one way or another.
Please keep your fingers crossed for me. With any luck, my genes hold the key to the next piece of the puzzle and maybe, just maybe, I’m about to find out what that is.
If you have any experience with 23andme data, please share it in the comments! I’d love to learn from your experiences!
Chronic Rants 
Gene testing is fascinating. When I was 18 I had gene testing done at Addenbrokes hospital Cambridge. My mum has a rare disease called pseudo xanthoma elasticum and they had just found the gene that caused it. I didn’t test positive but have elements to it but they found that I come from a Scandinavian background predisposed to anaemia and lactose intolerance. I have both.
It would be interesting now to have a test because that was 26 years ago and science has moved on.
I hope you get a 3-1 result as it could help move things along with your health.
Hugs xx
Thanks Lorna. Interesting, isn’t it? I mean, some of what I found is clearly not relevant to me, but other parts are surprisingly accurate. It’s really incredible how far science has come in some ways.
Did the first report tell you which MTHFR polymorphism you have? There are two primary types of mutations: C677T and A1298C. (There are other possible mutations, but those two are by far the most common.) It could be that the second report was only looking for one of those two mutations, and you had the other one. I can’t say for sure, of course.
Treating my MTHFR polymorphism has helped with my depression, but not with any of my other health issues. But who knows, maybe it could be more helpful for you.
Hope, which type do you have? And how long have you been treating it? I’m glad the treatments have helped your depression, at least! As for me, see my next comment š
I have the C677T mutation. Mine was identified three or four years ago (interestingly, before I got very physically ill), and I’ve been on Deplin (L-methylfolate) ever since. It’s expensive and not covered by my insurance because they say it’s a “medical food,” but it’s been worth the expense. (I think the insurance is full of crap–they have no problem paying for my iron, Vitamin D, or my B-12, probably because they’re cheap medical foods.)
I’ve been subjected to similar so-called “logic” by the insurance companies. Who comes up with this bull? I’m glad you have something that helps! I’m hoping it won’t take too much trial and error before I find something helpful.
I wanted to give a quick update. It looks like I do have the MTHFR mutation. Like Hope said in her comment, there are two primary types; I have A1298C and it’s homozygous, which means I got it from both of my parents. I told them about it this morning and tried to explain a bit about what it means. I emailed my sister, aunts, uncles, and cousins. Now it’s up to them how they handle it. I doubt my parents will do what’s needed. My mother is already insisting she doesn’t have any of the symptoms that can be caused by it, even though I think she does. As for me, I have a checkup with my naturopath tomorrow, so she’ll help me work up a treatment plan. With any luck, it will help!
[…] other day I posted about doing some genetic testing. I wanted to see if I had a mutation on the MTHFR gene. I had asked my primary care doctor for the […]