I have been told by my doctor that I have MTHFR mutations. What does this mean for a future pregnancy and my family?
Unfortunately, we are not allowed to provide personal health care advice. We can provide general, non-specific information regarding certain topics. You should contact your health care practitioner such as your family physician, OB/GYN or midwife. If you have already discussed your results with your health care practitioner and do not feel like you received enough information we would suggest asking your OB/GYN to provide you a referral to see a genetic counselor in your area. The genetic counselor will be able to review your family history and other pertinent aspects of your medical history to provide you with care. If you are worried that your OB/ GYN might be offended by asking for the referral then you may wish to ask your family physician.
I have a child with spina bifida, who in my extended family should take high doses of folic acid?
The US Preventive Services Task Force issued a statement in the Annals of Internal Medicine (2009) that reinforces the recommendation of 0.4 to 0.8mg of Folic Acid daily for all women of child bearing age (at the population risk to have a child with a neural tube defect) and 4 to 5mg of Folic Acid daily if a woman has an intermediate to high risk of having a child with a neural tube defect. Unfortunately, the recommendation for relatives of women in the intermediate to high risk range is unclear. We would suggest the relatives of those women speak to their health care providers who have a better knowledge of their family and medical histories and can make an appropriate recommendation.
I have three kids and only the third one has spina bifida. How that is possible if you are telling me spina bifida is genetic?
Spina bifida is genetic in the sense that there are likely some changes to one or a few genes a woman has that makes her more susceptible to having a child with spina bifida. Having these genetic changes do not necessarily mean that every pregnancy will result in a child with spina bifida. The genetic changes alone are not enough to cause spina bifida. The genetic changes combined with the type of nutrition mom receives during the early weeks in pregnancy may increase the risk of spina bifida.
I was born with Spina Bifida and I was wondering if I could be any help in your study?
Yes. You can definitely help! We are requesting saliva samples from individuals with spina bifida and their mothers. We are requesting samples from both mom and child because we are comparing genetic variations between mom and child. To participate your mother goes to www.sbgenetics.org to take a short survey. A saliva collection package is sent to both of you. Collect the saliva and send us back the kits. It is as simple as that. It would also be great if you could help us promote the study by telling others with spina bifida about the study. You can also help by following us on twitter, becoming a fan on Facebook and if you have a blog or a website add our button or banner to your site. Here is a link to our buttons and banners. Thank you for your support!