Some mutations reveal that the carrier is prone to medical conditions such as seizures, obesity or kidney problems, for example. 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. They instead referred James to a physical therapist. 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. For example, a bone in his foot is developing a deformity, warping his arch and making it difficult to walk. The long-overdue answers have significantly changed James’ care. The mutation probably accounts for James’ autism, intellectual disability and other problems. A genetic test that had not been available when James was born revealed that he has a mutation in a gene called TAF1. That waiting and watching ended in August, when Angela finally got answers. “Our life history with him had been very much that we know there’s something, but we don’t know what it means and so we kind of have to watch everything,” Angela says. Still, this particular constellation of issues did not match any known genetic condition, and without a diagnosis, James’ doctors had no treatments to offer. And his blood contained so few platelets-the cells that clot blood-that when he woke with a nosebleed, “it would look like somebody died in his bed,” his mother recalls. He had five surgeries for sinus problems. He was finally diagnosed with autism at age 4.Īs James grew, other health concerns cropped up: He saw physical therapists, occupational therapists, feeding therapists, speech therapists, hematologists, neurologists, developmental pediatricians, psychologists, behavioral therapists, ear-nose-and-throat doctors and gastroenterologists. But even the specialists she then took her son to see dismissed his loud squeals, hand-flapping and tendency to ignore others as consequences of his poor hearing. When James was 14 months old, a physical therapist acquaintance took one look at the child and told Angela he clearly had some sort of developmental delay. He didn’t sit unassisted at 1 year or crawl until he was 18 months old, but doctors and friends reassured her he was fine.

(We are withholding James and Angela’s last names to protect their privacy.)Īs an infant, James struggled to eat and never slept for more than 20 minutes at a time, but Angela attributed these things to his being a newborn and to the stress of their cross-country move. So nine days later, James’ mother, Angela, took him home. Doctors there suspected he had a genetic condition, but genetic testing, such as it was 15 years ago, yielded no answers. 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. Almost as soon as James was born in April 2003, it was clear that he was not well.

Autism spectrum genetic testing