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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.

February 5, 2013 at 12:58 pm #3396
Dr. Diana
Keymaster

Hi everyone, there is SO MUCH great info here! I do believe that our illnesses are shaped by our genes, certainly, and recommend that everyone get a 23andme (now at $99). As we gather all of this info together, obviously it will be critical to know where your weaknesses are. I think it is entirely possible that Diamox may not agree with folks who can’t handle the overload of sulphur. Concerning sulphur allergies, I DO hear that most folks do fine with Diamox, even with a sulphur allergy, but obviously, you and your doctors will want to be careful with that, certainly. Some doctors (usually allergists) can put you through a desensitization program so that you can tolerate most anything. I think that may be important, because we don’t really have a non-sulphur alternative to lower our intracranial pressure, dad gum it. In our family, we have low homocysteine, and our 23andme results are sitting here for me to check for CBS mutations. They’re still patiently waiting! Our family is negative for MTHFR defects, so methyllation went to the back burner. I’ll revisit it, certainly, just as soon as I can get to it! I’m happy to share my results, as soon as I figure them out, BTW! 😉 Interesting that they put TGFBR1 and TGFBR2 in with the mix for CBS mutation tests… That is the test for Loeys-Dietz syndrome (we tested negative for this). If they are checking other collagen disorders (not just EDS), I wonder if these other genes include ones for Sticklers, etc? As soon as I wrap up these two patents I’m working on, this will be next on my list! Thank you all for such wonderful info!! Big hug…

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