Anyone else have MTHFR?
Hi, I'm xandia or xan. I was wondering if anyone else has methyltetrahydrofolate reductase mutation, (MTHFR)? I have the heterozygous version. It would be nice to exchange experiences with others who have this condition whether heterozygous or homozygous. I know it can be a challenge to understand and keep tabs on how your condition impacts your life. I was diagnosed with this in 2005 and had to inform my family members on my paternal side of the mutation. Please let me know if you would like to chat here in the disability community. We can support each other. ❤️
@xandia I am vaguely familiar with this. I have no idea what the criteria here is to get it tested, if it's ever even done within the system. Considering some of the deficiencies I have had, it may be worth asking about.
@AffyAvo
I only found out about it after after having multiple blood clots in my legs and right arm. People with this mutation tend to form blood clots; especially as they age if they are heterozygous. That means they have inherited two different copies of a gene that confers this mutation. Those who inherit two of the same copy of the gene are homozygous and tend to have much more worsening conditions. And it can occur at a much younger age. I met a child of three years at our local clinic who had a stroke. It is an insidious condition; you can almost feel as if you don't have it; you can go through life and feel great. Suddenly, you wake up one day and there it is. A swollen, red, hard area on your calf. I knew right away what it was. Having to either take heparin IV in the hospital, or shots of arixtra or lovenox at home was an interesting journey. I am currently on warfarin therapy for the blood clots.
Having to have my PT-INR done once a month is not a bother. I prefer to have mine checked at the hospital. It's a reminder that I have a condition that requires monitoring. I recommend everyone to be checked for this mutation. It can hide itself well. If you have other inherited conditions, sometimes it's good to check to see if you have this one as well. It seems to go hand in hand with other inherited conditions. My brother not only had MTHFR but Factor V Leiden as well. I hope this has helped explain some of this condition for you Affy. ❤️
Yes. Also other metabolic genetic and autoimmune.
@ClassicSher
Nice to meet you Sher. I have a gene from my paternal side of the family that makes me spill blood into my urine frequently. I work in the medical field and I have researching all I can about the genetic diseases and how they can become intertwined thus impacting human beings in different ways than just having one genetic mutation. It can be hard to keep up with all the developments occurring in the field of genetics. I hope you can tell me more about your gene mutations; I am a willing listener. ❤️