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Found 2 results

  1. mountainmom

    MTHFR Mutations

    Hi I'm new here and have spent the past few weeks immersing myself in the wealth of knowledge you have all made available here. It's been incredibly helpful as I try to learn everything I can about PANS. So first I just want to say thank you. My question is, are most PANS kids compound heterozygous for MTHFR? Please excuse me if this is a ridiculous question- I've been barely able to understand the ginetic mutations. I'm asking because I received some of my son's test results and he is compound heterozygous. Also, can someone explain why it's important to know your mutations? So confused! Thank you and please excuse my lack of knowledge.
  2. Hello to all of the incredible parents and caregivers on this forum. I am new here and found this forum through extensive google searches, which always brought me back here and to several of you who have posted extremely helpful information. I cannot than you enough for sharing your stories. My 5.5 YO son has TS, vocal and motor tics for a year. We have followed similar diets (GF/DF/Nut Free) to many of you here and he also has severe tree nut allergies with anaphylaxis, which seems to be a common thread with TS kids (allergies/OCD/ADHD). We've been on a quest for the past year to find the right cocktail of supplements + diet to help jumpstart his gut biome to function more efficiently. We have a Neurologist, a Pediatrician and the most helpful, a Naturopath who has been with us every step of the way. The non-western path is certainly the one for us, and we've recently noticed a few changes with the introduction of PharmaGaba supplements (2 chewable per day) which have significantly reduced the motor and verbal tics. He's only been on this supplement two days and I notice a difference. Wishful thinking? Or a strong connection? There is a Mt Sinai clinical trial looking at GABA's role in TS with Dr. Vilma Gabbay which many believe to be greatly reduced, up to 50% in TS children. We just sent in our 23andme genetic test for our son, which I'm hoping will also lead us down a more focused path. Not as easy to get a kid to spit in a tube as I would have thought, but we collected enough to process. So much new research out there about the role of GABA and Histamines in TS - sometimes overwhelming. In some cases, kids are not producing enough Histamine and in others, and over-production of histamine and it's not going to the "right" places which from what I can gather is why DAO can be helpful. We see a lot of allergies, food allergies, environmental allergies in our son. I'm convinced my son is allergic to carpet backing and any plastic products that off-gas. Looking at chlorine and pools as another possible trigger, as he has swim class weekly (inside) which we're worried is compounding his symptoms. Anyone else see major environmental effects on triggers tics - specifically plastics or chlorine? He had a NutraEval test where his MTBE levels were extremely high, which was why we started to look at the carpeting and carpet backing in his room and in the house. My main reason for posting today is about genetic testing. Has genetic testing helped to guide your treatment decisions for how you supplement and/or approach detox, chelation or natural and herbal healing for your TS kids? If so - which genetic mutations or markers were the most common or important markers in TS and how did this impact your treatment path? We get our results back in a few weeks so plenty of time to mine for more information. I'm so eternally grateful to have found this forum. We are warriors, super sleuths, CSI investigators trying to solve this neurological mystery to make life a bit easier for our children and loved ones. I am sending you all a gigantic hug from cyberspace. Your words and wisdom have helped me get through many rough patches. Thank you! Erin
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