[hoopism]

My daughter was diagnosed with Autism at 16 months. Just this year (she is 6 now) we found a genetic cause (SCN2A, the one mentioned here). We have invested a ton of time and energy into therapies and she is doing very well... I wonder how receiving the diagnosis in reverse would have affected us mentally. I have met others who got genetic results and pushed more into finding a cure. I always felt like any potential "cure" wouldn't be in her lifetime... now I wonder.

[Medicalidiot]

CRISPR could ameliorate almost all genetic disease in 1-2 generations (~40-60 years). We're so close in so many ways, now we're just trying to make sure the procedures are safe.

[asdfx]

What tests are done to determine genetic cause? This would be really helpful, appreciate your info

[hoopism]

We did a genetic test for small number of well known genetic disabilities when she was younger that did not yield a result. Our neurologist then recommended a "whole exome sequencing" a few years later. This is where we found a result.

Insurance is often reluctant to cover this but it's SOMEWHAT affordable (want to say 2-3k with some hospital magic discounts). I can't say it has affected our course of treatment but we were concerned about what other health related issues may be associated with the diagnosis. And it is somewhat promising that a treatment may someday be available.

I would highly recommend pushing for testing. I am told they continually with run your results against know mutations as they find more. So even if you don't get a result today you may someday.