Friday, 4 April 2014

RESULT - MTHFR Mutation Detected

So!! After waiting 8 long weeks I finally received my results back today and guess what… the result was MUTATION DETECTED!!

What is says in the fine print of my results is that I have the MTHFR;p A222V (MTHFR;c 665C>T) Heterozygous form of mutation… which after a little research I found out is the MTHFR C667T gene.

In mild MTHFR deficiency, the most commonly associated variant is the C->T sequence change at nucleotide 677, called MTHFR C677T (standard nomenclature c.665C>T)
http://path.upmc.edu/cases/case677/dx.html

Referring back to my post 'The MTHFR Gene Mutation'…

Heterozygous: means you have one copy of either the 677 mutation, or the 1298 mutation, plus a normal one from the other parent.

Im not sure what this means in terms of my recovery, as I don't have the two defective genes it's a possibility that I might be one of those who heal at a quicker rate? Im not going to speculate on that to much though and I am going to still be realistic in terms of my recovery and aim for full recovery in a year and a half. Though less than a year would be mighty fine indeed!

My start date for TSW is in 3 days, Monday 7th April! Yikes!! See you on the other side…







2 comments:

  1. Whoa!!! Glad to see you got the results!! I will be eagerly waiting for your posts!! It may still be a rough ride in the beginning but I'll be praying you have a not so bad time in TSW.

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    1. Thanks so much Tracy!! Really appreciate your kind comment :)

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