I do not remember ever being as excited to go to a doctor’s appointment as I was today. Why? Because today I got to see the results of my Organix Comprehensive Urine Profile from Genova Diagnostics.
One of the markers that I found to be interesting from these test results was that I am positive for MTHFR. While my gene testing also showed this, gene mutations are not necessarily expressed and it is only when they are expressed that they lead to issues. The Organix urine test informed me that not only do I have MTHFR, but it is activated and could be creating an imbalance in my enzyme function. Based on my genetic testing, I know that I am heterozygous for the A1298C gene mutation (that means it came from only one of my parents). I actually found this piece of information out in September, but the doctor who ordered the blood test told me that having only one copy of this gene mutation does not generally cause problems. However, my own research (see links below) and confirmation from my SIBO doctor today has led me to believe otherwise. I still may do 23andme testing to gain an even better understanding of my genes and figure out if there is anything else going on that would leave me susceptible to bacterial infections.
Here is what was indicated on my summary of abnormal findings:
Fatty Acid Metabolism: This may explain why all of the women along my matriarchal lineage have developed gallstones.
Adipate: Very High
Suberate: High
Carbohydrate Metabolism:
Pyruvate: High
Energy Production Markers:
Cis-Aconitate: Very Low
Methylation Cofactor Markers: confirms MTHFR gene mutation
Formiminoglutamate: High
Oxidative Damage and Antioxidant Markers:
8-Hydroxy-2-deoxyguanosine: High
Detoxification Indicators: confirms my difficulty with detoxification (elevated liver and kidney levels) and the fact that sulfur is an issue for me
Glucarate: High
Pyroglutamate: High
Sulfate: Very High
Summary:
I have not had a chance to really sit down and sort out all of the pieces, but I wanted to get my results out there for those who have similar issues and want to start looking into getting this test done for themselves. It is clear that avoiding sulfur foods and promoting healthy detoxification will be important for my healing process. I plan to detoxify slowly so that I do not overwhelm my already fragile system. I would like to get into a regular hot hatha yoga practice and support my immune system by receiving nutrient IVs that are tailored to my specific needs (as determined by my organic urine acid test). Further reducing my bacterial overgrowth will also be a piece of the puzzle. To start, my SIBO doctor has me using Berberine Complex from Integrative Therapeutics. I will be checking back in with her in two weeks to discuss the results of this treatment protocol.
Links for some of my research:
Hydrogen Sulfide Gas Health Impacts: my SIBO doctor actually asked if she could keep the copy of this patent that I brought to her. We both agreed that hydrogen sulfide was likely an issue for me. However, I recently took the Protea Biopharma gut dysbiosis test and had a negative result. I am uncertain whether the test is inaccurate or whether I actually do not have hydrogen-sulfide producers in my small intestine.
MTHFR from Stop the Thyroid Madness
Methylation/MTHFR by Dr. Amy Yasko
A great source of Mthfr info is Dr. Lynch at mthfr.net. I’ve learned so much from his site.