Date Published: January 13, 2021
We are celebrating SPARK’s fifth anniversary with stories about the first families who joined.
Jennifer Stein weathered several challenging years. There was the surprise of her son’s autism diagnosis, then the search for the right therapies and school to help him. But she wanted to do more, something that would help other families of children with autism.
When she heard about a new autism research study, one that she could join online, she did not hesitate. She, her husband Evan, and their sons, Josh and Sam, signed up. In doing so, they became one of the first 10 families to join the SPARK study when it began in 2016. They submitted medical and behavioral information. They also mailed in saliva samples to help SPARK in its search for genes that are linked to autism spectrum disorder.
Since then, more than 250,000 people have joined SPARK, which is now the largest study of autism. Researchers have used participants’ genetic data, along with information from other studies, to uncover many genes that contribute to autism. SPARK has notified several hundred study participants that it found a change in their DNA that is linked to autism.
The Steins have not received any such genetic news from SPARK so far. But that was never the point, Jennifer Stein says. She and her husband are both doctors. She specializes in dermatology, and he is a radiologist. They participate in SPARK to help push science and medicine forward.
“We don’t do it because we think we’re going to personally get anything back from it,” she says. “We do it because it’s so important to contribute to the understanding of autism. Even if we’re not going to benefit from it, it’s really important for other families in the future, for diagnosis or treatment. We’ve benefited from knowledge that was gained in the past, which other families contributed to. So this is what we have to do, for the future.”
The Surprise of an Autism Diagnosis
When Josh, her oldest child, was 2 years old, she enrolled him in a nursery school in New York City, where they live. “Very quickly, within a week or so, they called us,” Stein says. A teacher recommended that Josh be evaluated by a specialist in child development. The Steins took him to the New York University Child Study Center. He was diagnosed with autism several months before his third birthday.
“Even though I’m a physician, I knew very little about autism,” Jennifer Stein says. “My son had a lot of language, and he had this incredible memory at that point. He was memorizing people’s phone numbers. He spoke early, and I didn’t realize that he could have autism.”
Josh had some behavioral challenges that are common to children with autism, such as tantrums. He went to a special education preschool program before starting a school for children with autism. The school, which he still attends, uses an Applied Behavior Analysis approach.
Touching a Chord: Josh Finds Folk Music
As a preschooler, Josh became fascinated with the YouTube channels of singer John Parsons, who performs as “Lew Dite,” as in Luddite. “I took on the name because my music is so simple, based on old folk songs with no modern technology,” Parsons explains. He sings traditional songs such as “You are My Sunshine” and “Oh My Darling, Clementine,” often while playing guitar, ukulele, or banjo. The music captivated Josh, who watched the videos over and over.
Josh’s father began corresponding with Parsons in 2012. He shared videos of Josh singing songs he learned from watching Parsons’ YouTube channel. “He has an uncanny memory and has, as I mentioned on YouTube, learned the lyrics to many of your songs,” Evan Stein told the musician.
Parsons replied, “I have watched Joshua’s videos several times now and he is quite extraordinary. That he can retain all those words at such a young age is surely exceptional.” So began a friendship that led to two in-person meetings, once in New York in 2014 and a year later in Canada, where Parsons lives. Evan Stein tells the story of their musical friendship on a website, DearLewDite.com.
Like his favorite performer, Josh learned how to play guitar and ukulele. Now 12 years old, Josh often plays his ukulele and sings along with Lew Dite videos. His parents don’t have to remind him to practice: sometimes Josh will pick up his ukulele and play for hours.
Finding Help for Behavioral Issues in Autism
Although Josh has come a long way, his mother says, the road has had some bumps. By the time he was 11, his outbursts and aggressive behaviors had become more concerning. He was already 5 foot, 8 inches tall, and growing taller and stronger. Although not symptoms of autism, aggression and self-injury are relatively common behaviors in children who have autism, according to research.
Josh’s parents carefully considered whether Josh should take medication to help him manage his behavior. Josh saw a psychiatrist, and the pre-teen told the doctor that he wanted to stop biting his own arm.
The doctor gave him a medication to try. On a follow-up visit, Josh told his doctor the medicine was working. “How so?” the doctor asked. “I’m not biting my arm as much,” Josh answered. His father recounted the conversation in an article for The New York Jewish Week.1
Like many children with autism, Josh focuses intently on those topics that interest him. Besides music, Josh has a passion for Sesame Street and the Muppets. He can watch a scene from Sesame Street, and immediately name the episode and guest stars, his mother says.
He is studying Hebrew for his Bar Mitzvah, an important rite of passage in the Jewish faith for boys who are 13 years old. The ceremony is scheduled for this spring.
Contributing to Autism Research
Jennifer Stein has stayed active in SPARK during the last five years. She has participated in six studies through SPARK Research Match, which pairs researchers with people who want to take part in autism studies. In 2020, she says, she answered surveys for SPARK’s study of the effects of the COVID-19 pandemic on people with autism. She finds it easier to participate in online research through SPARK, than to join studies that require her and Josh to travel to a clinic, she says.
She also appreciates the research information, newsletters, and articles from SPARK. “I wish something like this existed when he was first diagnosed. I was looking for as much information as I could find, and I am so interested in research,” she says.
“You want to make sure you’re doing the best thing for your child when it seems like there are so many different options out there and you hear conflicting information from various sources. So it’s great to have a resource of very reliable information.”
Photo courtesy of Jennifer Stein
- To learn about the study, visit SPARK.
- For information on aggression in autism, watch this SPARK webinar, and read this SPARK article.
- For information on self-injury, read SPARK’s “A Risk from Within: Understanding and Treating Self-Injury in Autism.”
- Stein E. The New York Jewish Week. Article.