Utah families and doctors join national DNA autism studyOct 21, 2020 02:07PM ● By Heather Lawrence
Julieta Tischer’s family in West Valley participated in the national DNA study on autism—her son Leroy is on the autism spectrum. (Photo courtesy Julieta Tischer)
By Heather Lawrence | [email protected]
Statistics published by the CDC for autism have held for several years: about 1 in 54 children in the U.S. is diagnosed with autism spectrum disorder. A national study called SPARK is looking for DNA components to autism—and some Utah families are eager to participate.
“My son was almost 17 years old before he was diagnosed with autism. We always knew that there was something different about him, and he had an Individualized Education Plan since kindergarten. He went through a lot of doctors before he was finally diagnosed,” said Julieta Tischer of West Valley City about her son Leroy.
Getting insurance to cover autism services is an uphill battle for many families. Most need speech therapy, occupational therapy and intense behavior therapy to get life-changing outcomes. So genetic testing can be an afterthought for families dealing with the day-to-day challenges of raising a child on the spectrum.
“When we heard about SPARK, we were very interested. We heard there was a genetic link for autism, but no one in my family is on the spectrum and no one from my husband’s family. We want to know where it comes from,” Tischer said.
SPARK is a nationwide study that hopes to test DNA from tens of thousands of people. It collects saliva from entire families with at least one child who has been diagnosed with ASD. The study covers all shipping and processing charges, and several genes connected with autism are tested.
Leroy’s doctor, Dr. Paul Carbone, is a developmental pediatrician and professor at the University of Utah. He is part of the Utah SPARK team, and coauthored a book by the American Pediatrics Association on autism spectrum disorders.
“I have devoted my career to the care of children with autism. I am also the father of a child with ASD, so the work is very personal for me.
“Recent research has shown that genetic differences or changes in genes play a major role in autism. There are likely hundreds of genes involved, and while some of these have already been discovered, very large studies like SPARK are needed to identify more,” Carbone said.
“Getting a diagnosis for a child with ASD often isn’t easy. Unlike some other medical conditions, ASD is not diagnosed with a blood test or x-rays. The diagnosis is made on the basis of caregivers’ descriptions of the child’s development, and by careful observations by providers who have expertise with ASD,” Carbone said.
In Leroy’s case, the long road to a diagnosis was difficult on the whole family. “It’s hard for people on the spectrum. It’s hard to understand them sometimes, and hard for them in school. Leroy was always different. They can feel rejected. It’s a learning process. It’s been a growing process for the whole family,” Tischer said.
Calleen Kenney’s family in Sandy also participated in the SPARK study. Kenney is on the leadership board for the Autism Council of Utah. Her 22-year-old daughter Maya is on the autism spectrum. Recently, Kenney was frustrated when some of the usual autism therapies and strategies didn’t work for Maya.
“We had done some genetic testing already, and found out that in addition to autism, Maya had Phelan-McDermid Syndrome, a rare genetic disease cause by a deletion on chromosome 22. That accounted for her developmental delay,” Kenney said. Getting answers through genetic testing helped explain why some autism therapies didn’t work.
Getting results from the study is a marathon, not a sprint. “It’s been about a year and we haven’t heard back on the DNA. But they told us it would take a while. In the meantime they send us emails with surveys and information, which is interesting. We want to do anything we can to learn how to help our son,” Tischer said.
Kenney said the questions on the surveys helped her realize how far Maya has come. “They ask about these milestones, and it’s kind of fun to look back on them. A lot of families don’t get answers about what caused their children’s conditions. So anything we can do to further research and find a community helps a ton,” Kenney said.
Kenney is very involved in the community and often speaks publicly about autism. She tries to make sure she always casts her daughter in a positive light while balancing the fact that raising a child on the spectrum can be a challenge.
“I’ve found a lot of relief in the community. It’s hard. It’s difficult every single day. Maya is one of these kids who will need a higher level of support throughout her life, so I need help finding answers,” Kenney said.
Utah is one of the newest SPARK clinical sites, and Carbone said they are eager to have more families participate as the goal of the study is 50,000 families. “People who are interested can visit the website www.sparkforautism.org, or contact the University of Utah SPARK team by calling 1-833-474-7092 or emailing [email protected],” Carbone said.
Answers provided by SPARK and other studies may help families be more open about their experiences. “When Leroy was first diagnosed, I didn’t want anyone to know. But everyone already knew there was something different about him. So we woke up to the idea that there’s nothing wrong. He’s different, but there’s nothing wrong with being different,” Tischer said.
Leroy graduated from Hunter High in the spring and now he’s doing a post high school program to gain more life skills. “He’s very smart. But it’s the job skills, social skills and life skills that he needs help with,” Tischer said.
Tischer and Kenney hope other Utah families feel the same way they do about adding to autism research. “We want to add to the information they get doing this testing. We want to be part of that. If we can find out some information about having autism that’s in your DNA, that will be great,” Tischer said.