At 30 Years Old, a Genetic Diagnosis
Date Revised: July 27, 2020
William Jarboe had a tough first few weeks at kindergarten. When his mother Sandra tried to drop him off, he would have a meltdown, refusing to get out of the car. “I got to the point where I wouldn’t even dress him for school,” she says. “I would put his clothes in a backpack and drop off the other kids. The principal and PE teachers would meet me at the car and get him into the building.”
Fortunately, the tantrums would quickly subside — as soon as William got inside, he would stand up, go into the bathroom and get dressed. “I don’t know how we would have made it through the early years without such incredible people,” Jarboe says.
Jarboe recognized early on that William’s development differed from that of her older child. At six months, William wouldn’t reach for a ball, army crawl or attempt to roll over. He didn’t babble, an important step in developing speech. And he didn’t start to walk until he was about two years old.
William, who is now 30 years old, underwent the type of genetic screening that was available in the 1990s. Known as a karyotype test, it detects large-scale changes to chromosomes, structures inside cells that contain our DNA. The results of the test were negative. It wasn’t until decades later, with the help of the SPARK research study, that the Jarboes would finally learn the cause of William’s developmental differences.
Last year, the Jarboes first learned about SPARK, the largest study of autism, when one of William’s former teachers shared information about the study. Sandra and her husband decided to enroll, even though they didn’t expect to get a result. “I don’t even know what we were looking for,” she says. “We decided, let’s just see if anything comes out of it.”
In January 2019, they got a call from a geneticist who explained that William had a result. It turned out that he had an extra piece of DNA, known as a duplication, in one of his chromosomes.
Extra genetic material in this region, known as 17q12, is linked to intellectual disability, speech delay, and seizures. “The severity of symptoms in people with 17q12 duplications can vary widely,” says Heather Mefford, a geneticist at the University of Washington, in Seattle, who studies the condition. “There is no way to predict what the outcome will be for any one individual.”
The condition is very rare — only about 50 people have been diagnosed to date.
Today, 17q12 duplications are diagnosed fairly routinely with a type of genetic test known as microarray testing, which can detect small changes to the chromosomes. But these tests weren’t commonly available when William was a child. Doctors expect to identify more people who have 17q12 duplication syndrome as access to genetic testing improves.
17q12 is one of close to 200 genes and gene regions that have been linked to autism. For a full list, see SPARK’s gene list. Scientists estimate that there are hundreds more. SPARK, a research study funded by the Simons Foundation Autism Research Initiative (SFARI), aims to find additional genes that are linked to autism risk and to better understand the genes that are already linked to autism. This type of research could eventually help to develop new treatments for autism.
A Weight Lifted
Jarboe says that she was most surprised by the weight that was lifted when she learned of William’s diagnosis. “It felt like there was a reason for all the hard work and decisions we made along the way for him,” she says. “It’s kind of nice to be able to take that piece of paper and hand it to the doctor and say, this is why we’re dealing with this.”
The Jarboes shared the information with William’s primary care doctor and psychiatrist, who specializes in working with people who have autism. “She was so excited,” Jarboe says. “She has a large group of people she would like to send SPARK’s way.”
William’s gene change is de novo, meaning it happened on its own during development and was not inherited from either parent. That’s helpful for William’s sisters, one of whom has children of her own. “It was wonderful to be able to tell the girls, this started with William, your kids are ok,” Jarboe says.
The diagnosis also aided the family’s long-term planning for William. Jarboe hopes that for younger children, a genetic diagnosis will eventually help tailor treatments to the person.
Finding a Network
Over the last year, the Jarboes have been able to connect with other families with the same gene change. They joined a support group for people who have 17q12 duplications. “It’s been interesting, I think we are the oldest in the group,” Jarboe says.
On the group’s Facebook page, Jarboe offers advice for parents who ask how to deal with meltdowns and other situations similar to what her family experienced with William. “It’s nice to be able to give some of my experience to the younger mothers, who I know are overwhelmed,” she says. “As much support as I had, it would have been nice to have someone to talk to who was walking closer in my steps.”
Jarboe shares with other families some of the strategies she developed to help William. He loves lawnmowers, for example, which his mother used to help him learn to walk. When he was a child, she set William up with a stroller so he could follow his father around the yard as he mowed. Later, William’s parents used his love of lawnmowers to help motivate him, promising he could mow the lawn if he behaved in school all week.
“We never had a major problem with behavior after that,” Jarboe says. “It’s hard to find something you can use as motivation. If you can, use it,” Jarboe says. William now mows the lawns of his parents and sisters, as well as several neighbors.
“Connecting with other families can be a really powerful way to help people understand what the major issues are and what has worked well,” Mefford says. “Behavior management, for example, doesn’t work for everyone. But for a lot of families, it’s really helpful.”
The Jarboes also joined Simons Searchlight, another program funded by the Simons Foundation aimed at families who have a specific genetic diagnosis. Many of these conditions are extremely rare, which makes it difficult to study them. Searchlight aims to accelerate research by bringing together families with gene changes and the researchers studying those genes. Families are offered the chance to participate in studies targeted to their gene changes and learn about the results of that research along the way.
Thinking Outside the Box
Growing up, William struggled particularly with speech. “There were a lot of blind rages with him,” Jarboe says. “I knew it was frustration because he and I hadn’t learned to communicate without him throwing a fit.”
The family connected with an excellent speech therapist through their school. “She was wonderful in thinking outside of the box, making me come at things from a different direction,” Jarboe says. They created a communication notebook where Jarboe would let William’s teachers know if he was having a bad day. His teachers would write back, noting if William had struggled with a subject or another student. “We did a lot of redirecting,” Jarboe recalls.
If William appeared to be nearing a tantrum, his teacher would ask him to take a note to the school’s secretary, so that he could go for a walk. “We had so many excellent teachers and therapists along the way,” Jarboe says. “It was a team effort.”
She and William’s therapists worked especially hard on emotional words so that he could learn to identify when he was angry or happy. They also taught him sign language, trying to give him different ways to express himself. Now William tends to talk nonstop, sometimes repeating the same question or statement multiple times. “If I put my hand out in stop signal, then he’ll take a breath and try to regroup,” Jarboe says.
William’s parents also gave teachers permission to explain to the class “that he was different but was a person. He’s always had friends because of it.”
Jarboe encourages other families that are considering joining SPARK to go for it. “You might find out something really wonderful that will open doors. You might join a support group and meet new people, maybe even new doctors that can help your child or yourself. If you don’t hear anything, it’s just because they haven’t made it to your part of the genetic puzzle yet. It doesn’t necessarily mean there is nothing. Just be open to what’s out there.”
For more on the Jarboe family, check out this video: Find Something Incredible
Resources and References
Simons Searchlight page on 17q12 duplications
Simons Searchlight 17q12 Duplication Facebook Community
17q12 Foundation Facebook page
Mitchell E. et al. Am. J. Med. Genet. A. 167A, 3038-3045 (2015) PubMed