Emily Singer

When Carson Meile was in kindergarten, in South Dakota, he developed a frightening condition. He experienced severe cycles of vomiting that lasted several days, putting him in the hospital several times over the course of a year.

Doctors struggled to figure out was wrong. They speculated that it was an unusual presentation of strep throat or perhaps a psychological issue. (Carson would not swallow his saliva when he was having an episode.) A specialist eventually diagnosed Carson with cyclic vomiting syndrome. But no one knew what caused it.

Carson, now 12, also has developmental delay and autism. His parents wondered if those conditions were linked to the vomiting. Doctors dismissed the idea. The Meile family had discussed genetic testing with Carson’s doctor. But their insurance didn’t cover it, and their doctor was doubtful they would get a result.

Then the family learned about SPARK through a support program in their state that helps families with children with disabilities. “I thought, this is our chance,” says Sharon Miele, Carson’s mother. “I felt this was something that God placed in our laps.”

Last year, Carson got a genetic diagnosis through SPARK. He has a change in the POGZ gene, which has been linked to both autism and vomiting. The Meiles had been right — the two conditions were linked.

The POGZ gene is active in the brain and helps to regulate the activity of other genes. In addition to autism, changes in POGZ are linked to speech and language delay, vision problems and low muscle tone, among other issues.

Carson’s genetic change is extremely rare. Doctors first described the condition, also known as White-Sutton syndrome, in 2015. Only about 50 people have been diagnosed to date. As is the case for most POGZ changes, Carson’s genetic change was de novo. That means he didn’t inherit it from his mother or father — it occurred spontaneously during development.

Sharon Meile says that getting the genetic diagnosis has helped make sense of her son’s medical history. The list of symptoms typically found in people with POGZ changes was particularly enlightening. “It was amazing how many of those symptoms that Carson had,” Sharon says. Indeed, Carson wasn’t alone in having vomiting issues. A small study of people with POGZ changes, led by SPARK’s principal investigator, Wendy Chung, found that nearly half had cyclic vomiting.

FINDING COMMUNITY

Soon after getting the genetic result, the Meiles joined a Facebook group for families with POGZ changes. (The group is affiliated with another Simons Foundation effort, Simons Searchlight.) “It’s been one of the benefits, to hook up with families that have this,” Sharon says. “It’s nice to support each other.”

Parents can find out if other families are having similar problems and get advice on what has helped other children. “Every child is different, and some things that worked for their child didn’t necessarily work for ours,” Sharon says. “Passing some of the information to doctors has been helpful.”

Earlier this year, two families whose sons had been diagnosed with the condition launched a family advocacy group called the White Sutton Syndrome Foundation. They were inspired in part by Vernon Sutton, a pediatrician and geneticist at Baylor College of Medicine in Houston and one of the first people to describe the condition.

Sutton says that family groups can be instrumental in gathering information about rare conditions. Their input can also highlight what symptoms are most challenging for families. For POGZ, families report that sleep and gastrointestinal issues can be particularly difficult. Sutton’s team is currently surveying families on these issues.

The Meiles plan to fill out Sutton’s surveys. And they enrolled in a study at the University of Washington, in Seattle, called TIGER, which they learned about through SPARK. The study’s goal is to better characterize symptoms in people with specific genetic changes. (For more on the TIGER study, see “Categorizing Autism Based on Genes.”)

A SENSE OF RELIEF

Sharon says the genetic diagnosis hasn’t had a direct impact on Carson’s medical care. He was already getting various types of therapy, including speech, physical and sensory therapy. But the diagnosis was a relief for the family. “My husband and I always blamed ourselves and wondered if it was something we had done,” she says. “That’s been really reassuring for both of us.”

The genetic diagnosis has also eased some of the judgement that Sharon and her husband felt from family, friends and teachers. Before Carson received his autism diagnosis, Sharon noticed that he behaved differently from other children. He liked cars but lined them up rather than pretending to drive them around. He never pointed to indicate what he was talking about. He was fascinated with unusual items, like street lights, and wanted to know how they worked. Certain soft sounds — running water, chewing — bothered him immensely.

Family members often made light of Sharon’s concerns. Friends and teachers initially dismissed the idea that he might have autism, because Carson didn’t resemble other children they knew with the condition. (Carson was ultimately diagnosed with autism when he was 8.) “When there’s that nagging feeling that something just isn’t right and other people dismiss it, it’s hard mentally and emotionally,” Sharon says.

Carson loves cars and campers. He has an ear for music and is learning to play the drums. He laughs a lot and is polite with strangers. And he sometimes has trouble in school. Sharon says that sharing information about POGZ with Carson’s teachers has been helpful. “I met with teachers before school started and gave them paperwork explaining what he has, what the symptoms are, how it affects things,” she says. “I really felt that his teachers, especially his resource teachers, got it. I felt like he had such a good year.”

Additional resources:

• Simons VIP on POGZ
• Simons VIP POGZ Facebook group
• SFARI GENE entry on POGZ

News stories from Spectrum:

• Rare mutations in gene underlie new subtype of autism
• Some genetic glitches touch both heart and mind

Spectrum provides comprehensive news and analysis of advances in autism research. Funding for Spectrum comes from the Simons Foundation Autism Research Initiative (SFARI), but the team is editorially independent.