I wasn't very specific in my last question. My brother did test positive for the MTHFR A1298c mutation. He had one variation present. Both of our parents, and my aunt (father's sister) died of stroke, so I have had a concern about this for a long time. I am on Medicare disability, and I live in an area where the doctors are very conservative. None of them are too eager to perform expensive tests. I do see a doctor for a follow-up visit post hospital discharge next week. Should I start by asking for a homocystine test? There is no record on my hospital lab sheet for homocystine levels. Again, thank your for your advice. There is a Genetic counselor in my area, but how do I convince my PCP to take my concerns seriously. He insists my problems are all related to IBS; stomach pain, diarrhea, lack of appetite... these symptoms all correspond to low folate levels as well. Again, thank you for your time.
Cardinarla1
First of all, we hope you are feeling well and are getting the support and care you need. I am not quite sure from your email if you or your brother has had genetic testing for MTFHR and/or other inherited blood clotting disorders. And, if so, how many variations were present (one or two). If not, we recommend that you meet with a medical geneticist who can review your personal and family history and discuss the benefits and limitations of genetic testing for these conditions.
In addition, there are known genetic variations that affect the way the body metabolizes certain medications such as plavix and warfarin (coumadin). We recommend that you speak with a genetic professional to discuss the benefits and limitations of drug response testing for cardiovascular medications, as it may help your doctors prescribe safer and more effective medications for you.
You can find a medical geneticist at the American College of Medical Genetics website. You can find a genetic counselor at the National Society of Genetic Counselors website or through companies like mine, AccessDNA.