Nataly Cuzcu’s twin daughters were 11 months old when she first noticed that their development seemed to be moving backward. They had started to babble and say ‘Mama,’ ‘Dada’ and ‘no.’ But over the next couple of months, those newly learned skills disappeared. Other skills deteriorated as well — the twins gradually stopped making eye contact and seemed to lose awareness of their surroundings.
When she first noticed the twins’ decline, Cuzcu had never heard of autism. She began reading about regression online and quickly came across the condition. “I started crying,” she says. “I didn’t know if it was autism, but I knew I had to figure it out soon.”
Within a few months, Cuzcu had enrolled the twins in different early intervention services, including speech, occupational and social skills therapy. She got on the waiting list for an autism evaluation at Seattle Children’s Hospital.
Nine months later, at age 2 years 3 months, the twins were officially diagnosed with autism.
It was at Seattle Children’s, one of more than 20 SPARK clinical sites across the country, that Cuzcu first learned about SPARK. These sites, located at medical schools and autism research centers, help recruit individuals and families to the study.
Cuzcu says joining SPARK gave her an opportunity to try to understand what caused her daughters’ condition. “When you get a diagnosis, you want to know why it happened or what caused it,” Cuzcu says. But she also wanted to help bring awareness and insight into autism more broadly. “So many people don’t know that autism exists,” she says. “In the future, I hope we will have more awareness about what might be causing it.”
For Cuzcu, the most challenging aspect of joining SPARK was collecting the saliva samples. Saliva samples provide DNA for the genetic component of SPARK. Participants are mailed saliva collection kits at home. They can either spit in a tube or use a Q-tip-like sponge. Because her daughters are so young and can easily get overwhelmed, she didn’t think she’d be able to collect their samples at home. “Just getting both twins into their strollers can be a challenge,” she says.
Fortunately, the SPARK team at the hospital was able to help. Emily Fox, lead study coordinator at the Seattle Children’s Autism Center, has been helping families enroll in the study for the last three years. For families who get therapy at the center, Fox often helps collect saliva in person.
Fox spent a couple of hours with the Cuzcu twins during their therapy sessions. She wanted to get the twins familiar with the sponge, which is often used to collect saliva in children who can’t spit. Fox wasn’t able to collect enough saliva during the session, so she and another team member later went out to the Cuzcus’ car to collect saliva while the twins were dozing in their car seats.
Fox has developed lots of strategies for calming children who are anxious about the process. “If the kiddo is awake, I sometimes count or sing,” she says. She takes lots of breaks, often encouraging children to run around and play in between swab sessions. (It can take 10 to 30 swabs to collect adequate saliva.) “They were so patient and kind — I think it took over an hour,” Cuzcu says.
Many families are able to collect saliva at home. But Fox encourages families who aren’t able to do that and who live near a SPARK clinical site to reach out. Not all sites can aid in saliva collection, but many can.
Cuzcu and the twins are still regular visitors at Seattle Children’s, where they continue with early intervention services. “We do a lot of therapy, more than eight hours a day,” Cuzcu says.
She says that applied behavioral analysis (ABA), a common, evidence-based therapy for autism, has made an enormous difference for her daughters. “Because they were nonverbal, they had no way of communicating other than crying and throwing things,” Cuzco says. A therapist tried teaching them sign language. But the twins had trouble making eye contact, so those efforts were unsuccessful.
The ABA therapists worked on improving eye contact before targeting other skills. The twins soon learned to point, a skill that comes easily to typically developing babies. Cuzcu says this seemingly minor skill has changed her life. “Now they can tell me, I want this,” she says. “It makes me excited for what’s to come.”