Almost as soon as James was born in April 2003, it was clear that he was not well. When he failed a newborn screening test and was struggling to breathe, he was sent straight from the delivery room to the neonatal intensive care unit. Doctors there suspected he had a genetic condition, but genetic testing, such as it was 15 years ago, yielded no answers.
A genetic test that had not been available when James was born revealed that he has a mutation in a gene called TAF1. The mutation probably accounts for James’ autism, intellectual disability and other problems.
The long-overdue answers have significantly changed James’ care. For example, a bone in his foot is developing a deformity, warping his arch and making it difficult to walk. His doctors had initially suggested surgery to correct it, but they changed their minds when the genetic results made it clear the problem was neurological and would recur.
Genetic tests are not intended to diagnose autism — no known mutation leads to the condition every time — but, as in James’ case, their results can substantially alter the course of treatments or prevention.
Read full, original post: Why genetic tests matter for autistic people