I recently found out about this genetic defect via the stopthethyroidmadness website. I've spent the last two days avidly researching it and have learnt that, having autism, and judging by my other symptoms, I have a 98% chance of having one or more of its mutations. There are many other adjunctive mutations common with it, which my symptoms seem to confirm that I have.
I am close to certain my GP won't refer me for the tests, and as I cannot get an appointment with him until the second week of June, I'm not going to hang about and wait. It's £350 that I don't have (if I use a private lab that doesn't require a referal), but I have no choice, as people with this defect react badly or even fatally to nitrous oxide (laughing gas, anesthesia), and I am going to need surgery in the future (for an issue not mentioned on this forum).
I'm wondering if anyone else has found out that they have this mutation, and how they're treating it (if at all)? Have your relatives been tested? Have you ever had surgery? If so, what anesthetic was used? Anything you can tell me would be much appreciated.