MTHFR results

Posted by 1red @1red, Apr 12, 2023

I have type 1 diabetes juvenile onset , Hashimoto Thyroiditis, consistent low white blood cell count and just recently had test for MTHFR with results that I don't understand. Results read C677T Homozygous and A1298C my value absent. Does anyone know what this means? My primary care physician has referred me to 2 separate Genetic counseling offices and they both said they would not see me. I am at a loss of what to do.

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jac08 | @jac08 | Apr 12, 2023

I have mthfr as well but not sure how to interpret your results. Contact an infertility dr or functional medicine. They know how to read them. Hope this helps!

John, Volunteer Mentor | @johnbishop | Apr 12, 2023

Hello @1red, I would like to add my welcome to Connect along with @jac08. Here is some information on the topic that may help answer your questions.

-- MTHFR C677T and A1298C: Explained In Plain English: https://www.dietvsdisease.org/mthfr-c677t-a1298c-mutation/.

I think if it were me and I still had questions and my PCP referred me to a genetic counseling office who wouldn't see me, I would go back to my PCP and ask them again if they can explain the test in layman's terms. That's the doctors job if they ordered the test.

Are you able to ask your PCP again?

1red | @1red | Apr 13, 2023

In reply to @johnbishop "Hello @1red, I would like to add my welcome to Connect along with @jac08. Here is..." + (show)

Hi @johnbishop, thanks for the info!!!
I have an appointment, hoping for some clarification.

Ingegerd Enscoe, Alumni Mentor | @astaingegerdm | Apr 13, 2023

@1red
The article that @johnbishop gave a link to is excellent.
I don’t understand how 2 genetic counselors could refuse to see you! This is important for you. How old are you?
Your PCP could possibly explain the results well enough but I still think a genetics counselor could better explain what it means for you and especially your children- if you have any.

1red | @1red | Apr 15, 2023

In reply to @astaingegerdm "@1red The article that @johnbishop gave a link to is excellent. I don’t understand how 2..." + (show)

Thanks for your comment. I have seen my PCP again and she understands that I want answers but has none for me except that the studies she has read says there is nothing to do about my mutation. I am 55 and have 2 daughters one of which is Heterozygous for the C677T and A1298C.

Ingegerd Enscoe, Alumni Mentor | @astaingegerdm | Apr 15, 2023

In reply to @1red "Thanks for your comment. I have seen my PCP again and she understands that I want..." + (show)

@1red
Thanks for your answer. I understand that the mutation information may not help you directly, but I think your daughter who inherited the mutations may want to discuss this with a genetic counselor herself to see if she needs to take special supplements if/ when she is pregnant as well as steps to take to minimize cardiovascular disease.

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