After a Genetic Diagnosis, the Opportunity to Connect
Date Published: May 20, 2021
We are celebrating SPARK’s fifth anniversary with stories about the first families who joined.
For Stephanie Gupton, one of the best things about getting a genetic result for her son Archie was finding other families with the same syndrome. Archie, now 10, was diagnosed with autism at age 3. In 2019, the Guptons learned that Archie’s autism was likely caused by a change in a gene called CHD8.
Gupton soon joined a Facebook group for families with changes in the CHD8 gene. Children with CHD8-related syndrome often have sleep and digestive issues, in addition to autism. Many families in the group were going through similar challenges and swapped advice. Gupton shared a potty training mishap, and other parents responded with potty training tips that had worked for them.
Stephanie also found some adults in the group with similar characteristics to the ones she saw in Archie. Before joining the group, Stephanie had a hard time imagining what life would be like for her son. Meeting those adults helped Stephanie feel hopeful about Archie’s future. “I learned to live in the moment,” she says. “Not to fear the future.”
A Surprising Call
The Guptons got Archie’s genetic result through SPARK, a large study of autism that offers DNA analysis and opportunities to participate in different types of research. The family joined SPARK in 2015, during the study’s pilot phase, after learning about the study through a research registry in their home state of North Carolina. “I didn’t expect to hear anything, I just expected to help with research,” Stephanie says.
By 2019, the Guptons had largely forgotten about the study and accepted that they would likely never know the cause of Archie’s autism. So Stephanie was shocked when she was notified that Archie, then 8 years old, had a genetic result.
The family soon spoke with a genetic counselor to learn more about Archie’s condition. “She told me how important CHD8 is for brain growth and function, what the syndrome’s symptoms were,” Stephanie recalls. “She described my child perfectly.” Archie had many of the common characteristics of CHD8-related syndrome, including a large head, flat feet, low muscle tone, sleep issues, developmental delay, and autism.
Stephanie remembers crying when the genetic counselor asked how she felt to get the results. “I think every parent, especially mothers, want to have all the answers. With time, I learned to live without them,” she says. “But to finally hear Archie’s true diagnosis was a huge relief.”
A Big, Beautiful Head
CHD8 is one of more than 150 genes that are linked to autism. It plays an important role in brain growth and development. In addition to autism, people with changes in the CHD8 gene often have developmental delay or intellectual disability, a large head, and gastrointestinal and sleep issues.
Archie, now 10, was slow to hit developmental milestones. He crawled at 15 months and walked at 18 months. At times he made poor eye contact. “He had a big beautiful head,” his mother recalls. “His head measurements were high above the curve, off the normal growth chart.”
Archie loves to pick up gravel or sand and watch it fall close to his face. He carries a cup that he fills with balls and sand. He fixates on spinning things. One of his quirks is stealing food — he once swiped a soft pretzel from a little girl when the family was visiting Dollywood.
At 10 years old, Archie does not talk. Difficulties communicating can be frustrating for both Archie and his family. “He gets upset and occasionally has some tantrums,” Stephanie says. Applied behavioral analysis therapy, or ABA, a common therapy for children with autism, has helped him to communicate better. He can understand simple commands and at times will make good eye contact. “He loves to cuddle,” Stephanie says. “He surprises us with random songs that he sings.”
Changes in the CHD8 gene are incredibly rare. As of 2021, scientists had described only about 130 people in the medical literature. Each person who participates in research brings a new wealth of knowledge.
Researchers at the University of Washington, in Seattle, have studied 30 people with changes in CHD8 as part of a project called the TIGER study. About 95 percent of those in the TIGER study have autism. Across the broader group of people who have changes in CHD8, about 80 percent have autism. Gastrointestinal issues are one of the biggest challenges, followed by sleep issues.
Early on, it looked like people with changes in CHD8 often had autism but not intellectual disability. However, as researchers studied more people who have the syndrome, they found that about 75 percent also have intellectual disability.
Before the pandemic, families participating in the TIGER study often flew to Seattle to have different types of cognitive and other testing. Since the start of the pandemic, researchers adapted most tests to be done over the phone. TIGER may continue this approach even when travel and in-person testing can resume.
“It’s a more equitable way to engage families in research,” says Rachel Earl, who runs the TIGER study. “For many families, flying their child across the country is a huge challenge. Now we can work around their schedules.”
Scientists are also studying mice with changes in the CHD8 gene, which can reveal what this gene does in the brain. Mice with only one working copy of the gene have larger brains than other mice and show some features of autism, such as differences in social behavior. The way their brain cells connect and communicate with each other also seems to differ. Scientists are now trying to understand which brain cells and what period of brain development are most affected.
Albert Basson, a researcher at King’s College London who studies CHD8 in animals, looks forward to meeting someone like Archie. He says that connecting with families with changes in a similar gene, called CHD7, had a powerful effect on his research. “Meeting families gives you a better understanding of the problems they deal with on day to day basis,” Basson says. “It influences how you think and what problems you might decide to focus on.”
In a Way It Was Wow
Stephanie recalls reading a story on SPARK’s Discover page about Amy Gravino, a woman with autism who is a SPARK participant and has served on several of SPARK’s advisory committees. Gravino recently learned about her own gene change through SPARK and described how that felt: “Learning that there is a reason why I am autistic changes everything, but at the same time, it changes nothing. This is who I am.”
Stephanie felt the same way about Archie’s diagnosis. “It didn’t change anything, like school or therapies, but in a way, it changed everything,” she says. “We discovered that’s who he is. We didn’t have to question anymore.”