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Mthfr Gene mutation
sheilaraz posted:
Hi everyone! I'am new to this, but needed to reach out somewhere. My 16 year old daughter (never sick before) started having bad headaches, dizzy spells, drop in blood pressure and black outs upon standing. She also complains of joint pain in the knees and has low blood, fast heart rate. She was diagnosed as being positive for 2 copies of the C677T Mutation. Homozygous for the C677T mutation and negative for the the A1298C mutation in the mthfr gene. The dr put her on 1,000 mcg of b12 and 1 baby aspirin daily. I can not find much information on this genetic disease, all effects and what it can cause. Only that she has a higher risk of blood clots, stroke and miscarriage. some websites have said there are links to this mutation with some cancers, bone loss, neurological issues, anemia, heart disease, hardening of arteries.memory loss, kidney disease, bowel diseas, the list seems to go on and on. I guess it makes sense because this is a blood disease and our blood flows through our entire body, through every organ. if there is anyone who has any answers to this disease please let me know. thank you so much.
Byroney_WebMD_Staff responded:
Sheliaraz, hello and thank you for posting today!

Unfortunately, we don't have any health experts on this commiunity. Even if we did, a geneticist or hematologist is probably the person who can best answer your questions about your daughter. He or she would be able to go over tests and records with you and give you an expert opinion on matters.

Here's the National Institute of Health's (NIH) information on MTHFR . It has a lot of information and resources that may be helpful.

Best wishes to you and your daughter,

sheilaraz replied to Byroney_WebMD_Staff's response:
Thanks so much for pointing me in the direction of the website.
beclotaware replied to sheilaraz's response:
These are the doctors that know how to treat MTHFR. Naturopathic, Integrative, Holistic, Environmental and Molecular. Not all of these doctors know how to treat it so you must call and ask them and still be weary. I own I don't have all the information up yet but I have some beneficial links on MTHFR. Homozygous 677 is manageable with high doses of methylcobalmin, lmethylfolate, P5P and TMG.
You can also go to and do a consult with Dr. Ben Lynch.
Let me give you a small summary on MTHFR. It is an enzyme deficiency. Your daughter's homocysteine is most likely elevated and cannot be converted into methionine. You want to keep her away from environmental toxins and things like preservatives, additives, canned foods, vaccinations with thimerosol in them, makeups and haircoloring that are not organic, amalgam fillings and there are lots of medications that will reduce your active b vitamins. I have a list of them on my website. If she needs surgery, you want to let the doctors know she has to be put under like a child with autism. You want to keep her away from any foods fortified with synthetic b vitamins. They will block the active b vitamins from working. She also should be tested for gluten intolerence. Most of us with MTHFR mutations eventually end up with gluten intolerance. Thyroid function is another thing we have problems with. Doctors don't normally test for TSH and ATP in a thyroid function. That is normally where someone who is compound heterozygous or homozygous has a problem.
If you go to youtube and look for MTHFR Dr. Rawlins lecture, watch all 4 parts. He works with what he has found out through the Human Genome Project. This is manageable. Don't lose hope. I do have a chat forum on my website. I just haven't converted most of my group over to it yet because I am still working on it. Hope I could help.
darmose responded:
this website has some really good information:


and lastly go to youtube and look up
mthfr/ dr. neil rawlins
he has a 4 part lecture that is extremely informative and very uuser friendly and simplistic to understand!
winnipeg1canada responded:
you should have the test done yourself, if you have not already. I have this Gene also and inherited it from mother and father, mum had blood clots, dementia and dad had cardiovascular, cancer. good luck, seek genetic counselling

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