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Dr. Diana, both a doctor (therapeutic optometrist), and a recovered POTS and ME/CFS patient, offers help and hope for POTS, Dysautonomia, Ehlers-Danlos syndrome, Chronic Fatigue, Chronic Lyme, vascular abnormalities, Fibromyalgia, and Multiple Sclerosis. Dr. Diana is now working full time at POTS Care.

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Reply To: CBS gene mutations being investigated in Ehlers-Danlos.

NEW STUDY! Parasym Plus™ for Multiple Sclerosis › Forums › PrettyIll.com Discussion › EDS/MS/Chiari › CBS gene mutations being investigated in Ehlers-Danlos. › Reply To: CBS gene mutations being investigated in Ehlers-Danlos.

December 15, 2012 at 4:00 pm #3218
SweetFeather
Participant

Give My Daughter The Shot!, 23andMe testing just dropped to $99 plus shipping because they’ve received $50 million in additional funding and they are trying to reach a million people. The NIH recently awarded them over a half million dollars for three research projects… one on allergy and asthma. YAH!!!!

I had dismissed MTHFR before…. thinking “neural tube defects don’t run in my family” but the methylation pathway involves so much more than MTHFR and neural tube defects. Homocysteine and B12 are involved and having high levels of both… can be an indication of MTHFR and other methylation pathway mutations.

Google:
Dr. Amy Yasko (she’s the main researcher behind the methylation pathway and whose protocol is the base for the other “simplified” versions) she has videos, testing, proprietary and other supplements.) Her book “Autism: Pathways To Recovery” is free for download on her website. Methylation Pathways mutations don’t just cause autism… it depends on when the methylation pathway breaks down! Her previous book was called “Genetic Bypass” and I think she’d reach more people with a title like that but because autistic kids are so sick she’s concentrating on helping getting them well. She’s a bit controversial because of her extensive supplement regime but her research is the basis for all the other protocols.

Also:
Dr. Stephen Smith MD of NW Integrative Medicine (see his website for a video on MTHFR and Glutathione and a link to his two mind maps at mindmeister.com on MTHFR symptoms and treatment) (His video says at 3:09 that B12 is usually high in people with MTHFR “because they just can’t convert it”)

Dr. Neil Rawlins MD: watch his 4 part you tube video and see his “simplified protocol” (Methyl-life.com’s “Resources” has his links among others)

Dr. Ben Lynch (watch his you tube presentation and read his website Mthfr.net … he sells “Seeking Health” supplements (see: “MTHFR C677T Mutation: Basic Protocol”)

Dr. Rich VanKonynenburg Ph.d (chronic fatigue researcher… sadly he recently passed away. His simplified protocol is at the “Phoenix Rising” Forum, Dr. Smith has a link to his videos)

Phoenix Rising.me’s forum under “Detox: Methylation; B12; Glutathione; Chelation” has Dr. Rich VanK’s “simplified methylation protocol” and a poster named “Freddd” has developed a B-12 treatment plan. There’s a lot of info on this site!

Dr. James Roberts (cardiologist who uses Yasko’s testing has outlined possible treatments based on Yasko… see “Heartfixer nutrigenomics”

April Ward-Hauge MS, NP, BCIM: Nutrigenomics & Integrative Medicine (see “Your Body Chemistry” for an easy to understand explanation of methylation.)

Dana at danachronicallyliving’s blog developed a spreadsheet… see “Determining Your Yasko Methylation Results from 23andme Data”

“Genetic Genie dot org” used Dana’s spreadsheet as the basis for their conversion programming.

Google: High Homocysteine and MTHFR at PubMed

I did the 23andMe and I ran my results through “Genetic Genie.” The CBS mutations were the tip of the iceburg. I found I have over a dozen mutations in the “methylation pathway” and a hemochromatosis gene!!! (BTW, anyone with elevated liver enzymes… one cause often missed is hemochromatosis… google iron disorders.org)

I contacted Sterling Hill of MTHFR SUPPORT through her facebook and scheduled a consult to have her analyze my data. She found other genes which may be indicated in chronic illness and she taught me how to do more research on my 23andMe raw data using SNPedia and 1000 genes. Her fee was very reasonable and I HIGHLY recommend her!!!!!

My 23andMe only took a couple of weeks to get results… it may take longer now because so many people already on there are having multiple family members tested since the price dropped from $299. See MTHFR SUPPORT for Sterling’s comparison of Yasko and 23andMe’s testing and the other genes relating to chronic illness to help you decide if you want to go with Yasko or 23andMe or do both.

My best, SweetFeather

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