Saturday, 16 August 2014

MTHFR and Pyroluria Adventure: Part 3 - Results Are In

So all tests are back. The doctor was right! Of the two main MTHFR gene mutations that one can tend to have, I have homozygous A1298C. Homozygous means I have it on both genes, Meaning that both of my parents carry the mutation and passed it on to me. If I had it on only one gene it wouldn't cause me any problems, but having it on both genes is a problem and means I will have to take specific supplementation for the rest of my life if I want to stay healthy because I'm not able to get what I need from food alone, at least as I understand it. I'm ok with that, as long as it's not too ridiculously expensive. In which case I'll pressure my parents to help fund it because they're their genes after all! LOL!


I also tested positive for pyroluria/pyrroles disorder which causes one to be deficient in zinc and vitamin B6. However I'm only borderline, so that's good news. Still, treatment is similar to MTHFR because I can't get the nutrients I need from food alone and so will have to supplement. Luckily I'm not high in copper which is often a troublesome symptom for people with pyroluria.
The doctor wrote me out a prescription for compounded supplements (ie supplements made by a compounding chemist especially for me). This part sounds very expensive and I am a little concerned. However one of my friends with MTHFR and pyrroles has a doctor who suggests she buy her supplementation on-line which would be enormously cheaper. I figure I'll go with the compounded supplements for the first month and then reassess after that. 
The past few days, knowing it was likely I was going to test positive for pyrroles, meaning low in zinc, I upped my zinc to 70mg a day; for a normal person that's potentially dangerous. Man, you should've seen my skin clear up!! That was exciting!! And the cold I had just vanished!! Lol! Awesome, bring on improved health I say!


Here's a couple more websites with good info on MTHFR:
http://doccarnahan.blogspot.com.au/2013/05/mthfr-gene-mutation-whats-big-deal.html

And pyrroles:
http://changinghabits.com.au/_blog/Changing_Habits/post/Pyroluria_-_A_Zinc_and_Vitamin_B6_Deficiency/

http://www.truevitality.com.au/articles/pyrrole-disorder/


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