Date Published: November 21, 2019
Erin has long suspected a genetic reason for her son’s autism and other puzzling conditions. But initial genetic tests found nothing, and her insurance company would not pay for more testing.
That did not stop her search for answers. In her quest, she visited online groups for families of children who have different genetic conditions. A parent in one of the groups told her about SPARK, the largest study of autism.
She learned that SPARK researchers conduct genetic analyses on people who participate, including whole exome sequencing, which her insurance did not cover. SPARK also notifies participants if it finds a genetic change that is linked to autism. So Erin registered her family, including James and his twin brother, and sent DNA samples to SPARK.
“We don’t know if we will have an answer,” she says. “We are waiting patiently and trying to be realistic.”
A Long Road to Autism Diagnosis
The road to James’ autism diagnosis involved both patience and persistence on Erin’s part.
When James was a toddler, Erin noticed differences between him and his siblings. He did not learn to speak as early, or as clearly, as Simon, his fraternal twin, or as his two older sisters had done. James had trouble making eye contact, would line up toys rather than play imaginatively with them, and had limited interests. He would run away from safe places, a potentially dangerous behavior called elopement.
All of these behaviors are common in children who have autism. Still, therapists and a specialist told Erin that James was “too social” to have autism. He received therapies for speech and developmental delays.
When he was almost 4, he saw a developmental pediatrician who diagnosed autism spectrum disorder (ASD). Although James sought out other people, he did not understand social rules or how to have back-and-forth conversations. Those are traits of ASD, the doctor explained.
For example, James would greet people by saying, “My name is James, and my grandma died one day.” In fact, his grandmothers were fine, and James was repeating a plot line from the movie “Trolls,” Erin recalls. “He told people this for a year. It was his way of initiating contact,” she says.
“If he had never developed speech, it would have been difficult to get that [ASD] diagnosis. His words made it apparent he wasn’t using language the way other people were.”
Getting Therapy Targeted to Autism
“The diagnosis was a doorway into getting the supports he really needed,” she says. After the diagnosis, James, who is now 6, received behavioral therapy that focused on reducing unsafe behavior, such as banging his head and running away.
He has wandered away in parking lots and stores. Once, he ran behind a deli counter, near a deep fryer, meat slicer, and other potential hazards. He also tried to leave his house at night. Nearly half of children with autism have tried to elope at least once, according to research.1 Some have drowned or been injured after such incidents.
To complicate matters, James has a sleep disorder that causes him to awaken in the early morning hours, when his parents are asleep. When he was 4, he used an Allen wrench to take a chair apart at night. Another time he flooded a bathroom. His parents installed an alarm and security cameras to keep him safer at home. James also began using a watch with a GPS locater feature.
The family began using some of James’ interests as a reward for following safety rules. For example, he likes watching crayfish, also called crawdads, small, lobster-like creatures that live near his home in the Pacific Northwest. Safe behavior may earn him a special visit to the creek to see the crawdads. Sometimes James will put a few crawdads in a pail and take them along for a short walk. Then he returns them safely to the creek. “He’s very protective of the crawdads,” Erin says.
Besides crawdads, James is fascinated by science and mechanical devices, especially robots.
Although many of his behaviors are common to children with autism, James has some traits and conditions that are uncommon to ASD. He had a temporary bout with arthritis, and also a growth inside his ear that required surgery. He has spots in the iris of his eyes that are often found in people who have Down syndrome, although he does not have Down syndrome. The spots do not affect vision.
Does a genetic change explain it all? If it does, Erin says, that knowledge could help her better manage her son’s health.
She has not received genetic news about James from SPARK. SPARK estimates that 10 percent of participants will have a genetic change linked to autism. That percentage is expected to grow as researchers link more genetic changes to autism.
In the meantime, Erin joined the SPARK Community Advisory Council and tells other families about the study. Genetic research will “empower people to have the best quality of life they can have,” she says.
SPARK article, “Tips for Preventing Wandering“
- Anderson, C. et al. Pediatrics.130, 870-877 (2012) PubMed