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Anyone else homozygous positive for MTHFR??

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Posted 7/25/2017 10:45 PM (GMT -5)
My 11 year old tested homozygous positive for MTHFR. The doctor said this could explain why she has been so sick despite months and months of treatment. We fly to NY to see her pediatric LLMD Thursday for her appt Friday. I will have more answers about what this test result means Friday. But I am slightly encouraged that at least we are figuring out why she can't get better.

And I have my appt with Dr. H Friday, as well. Fingers crossed I can go back on antibiotics as I have been c diff free for a number of months now. I am hoping I will be able to start dapsone, rifampin, and doxy. Stay tuned...
Posted 7/26/2017 10:28 AM (GMT -5)
Hi Evanston -
I'm sorry about the test - but it's good information to know.

Generally, you have a reduced function of appx 30% if you have a heterozygous mutation and appx 60% reduction if hyomozygous. And the types of mutation involved in MTHFR mutations involve methylation pathways and detoxing functions.

The methylation pathways are varied but many and involve not just how we detox but how our bodies create and process chemicals and enzymes and proteins and hormones so that they can be used for many other functions. Detoxing is a big part of our treatment so that's what makes this information helpful.

Two good sources for more about what the MTHFR function is about, which will help you prepare for your appts are:
Amy Yasko (she specializes in MTHFR mutations and autism in kids)
MTHFR.net

Yes! Let's hope you're done treating your cdiff. Please also incorporate an antifungal AND a gut binder to help keep the gut biome somewhat free of dysbiosis, particularly after your cdiff episode. Let us know how your appts go!
Hope this is helpful - let us know if you have questions.

-p
Posted 7/26/2017 12:21 PM (GMT -5)
bump
Posted 7/26/2017 4:36 PM (GMT -5)
Here's a thread I had saved about MTHFR

https://www.healingwell.com/community/default.aspx?f=30&m=3823380
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