Date Published: November 28, 2022
McKaela was an exceptionally quiet baby. She did not cry when she was hungry or when her diaper was wet. In fact, sometimes the family dog would let her mother, Heather Bensch, know that McKaela needed something.
“From the very beginning, I knew that something was different about her, and I brought it up to the doctor,” Heather recalls. The doctor referred the baby to early intervention therapies when she was only 6 months old, an early age for a child without a diagnosis.
When their children were young, Heather and her husband, Brian, served in the Air Force, and they moved often to bases across the United States. Heather made sure that McKaela, her first-born, continued to receive care from a changing cast of doctors and therapists.
When McKaela was 3, she was diagnosed with autism.
But autism did not answer all of Heather’s questions. Why did McKaela have traits that autism did not explain, such as low muscle tone? Why didn’t she respond to therapies the way other children did?
Those answers would come many years later, from the SPARK autism study. In 2022, SPARK had genetic news for McKaela, who is now 21. Her mother only wishes that this information had been available when McKaela was young. “It would have saved us years of frustration, and helped her and her development, if we had known sooner,” Heather says.
More Than Autism
After McKaela’s autism diagnosis in the mid-2000s, Heather began to learn everything she could about autism, therapies, and special education. When they lived in a small town in South Dakota, she found out that their school did not have a special education teacher. She did not accept that, so she appealed to the school district to get McKaela the teacher she needed. And Heather won.
McKaela struggled to speak, despite the efforts of speech therapists. They introduced her to different forms of communication. First, they tried sign language and picture communication cards, and later, in her teen years, a communication program on a mobile device. Today, she speaks some single words and phrases, but strangers may find her hard to understand, her mother says.
Over the years, Heather met other parents of children on the spectrum and learned what had worked for them. She wondered why McKaela did not respond to therapies or make the progress that those children had.
In 2018, when McKaela was 17, Heather saw an online advertisement for SPARK, the largest study of autism. Heather joined online, “hoping to discover the cause of my daughter’s autism through genetic testing.” McKaela and her parents contributed DNA samples for analysis by SPARK researchers. SPARK is looking to uncover more genes that cause autism.
In early 2022, SPARK contacted the family with genetic results for McKaela. A genetic counselor explained that McKaela has a rare variation to a SYNGAP1 gene, which she did not inherit from a parent. People have two copies of the gene, which makes a protein that helps control brain activity. The brain may become overactive if one of the two copies does not work the way it should. People with SYNGAP1-related syndrome may have seizures, intellectual disability or developmental delay, autism, epilepsy, low muscle tone, constipation, or sleep problems.1, 2
McKaela has autism and intellectual disability, and her mother wonders about seizures. She is trying to find a specialist who treats adults with genetic conditions like McKaela’s in Tennessee, where the family lives. She suspects that McKaela may have had seizures involving staring spells and eyelid movements that can occur in people with SYNGAP1-related syndrome.3
Genetic Testing Then and Now
Like many adults on the spectrum, McKaela could not get some genetic tests when she was a toddler because they did not exist or were not widely available then. In fact, SYNGAP1-related syndrome had not been discovered yet. When she was in elementary school, McKaela was tested for fragile X syndrome, a common genetic cause of intellectual disability and autism, her mother recalls. That test was negative, and the doctor did not order more genetic tests.
“Her having been diagnosed with autism really determined what kind of care and services she received,” Heather says. “I ultimately became frustrated over the years because I would try to treat the symptoms of her autism, with the training and education that I had received about autism. And it wasn’t very effective because she had underlying things going on that compounded the issue.”
After learning about SYNGAP1, the Bensches continued their research journey by joining SPARK’s sister program, Simons Searchlight.
Simons Searchlight is a research program for people who have variations in genes and chromosomes that contribute to autism and neurodevelopmental conditions. More than 100 people with SYNGAP1-related syndrome, and 117 of their family members, have registered with Simons Searchlight. Nearly 500 people participate in its SYNGAP1 Facebook group, where they can connect with others and find resources.
Simons Searchlight has also collaborated with SYNGAP1 advocacy groups.
“How Can I Help?”
Heather began volunteering for one of those groups, the SynGAP Research Fund, a nonprofit that supports research into treatments and support systems for people with the condition.
Heather immersed herself in the work. “She just jumped right in and said, ‘How can I help?'” recalls Mike Graglia, co-founder and managing director of the SynGAP Research Fund. “Her daughter was diagnosed this year, and she’s already running our weekly support group for families on Zoom,” he says.
The fund awards about $1 million in research grants a year. In October, for example, it awarded a $130,000 grant to Johns Hopkins University for research on a technology that could help increase the function of the unaffected SYNGAP1 gene in a person who has a variant.
More than 1,100 people worldwide have been diagnosed with a SYNGAP1 variant, Graglia says. Other people may have the variant and not know it. Older teens and adults may be missed because testing for SYNGAP1 did not exist when they were children, he explains. Sometimes insurance companies may not cover it, or health care providers may not suspect a genetic issue and order testing, he says.
McKaela at 21
For Heather Bensch, the genetic diagnosis answered many questions. But it has not led to new or specialized services for McKaela as an adult, at least not yet. “While receiving the SYNGAP1 diagnosis has been eye opening, it ─ and the fact that she’s an adult ─ has made it even more difficult for her to receive all of the services that she requires to manage her symptoms. As her mother, I have just had to come to grips with the fact that SYNGAP1 isn’t on the map like autism is yet,” she says.
An aide comes to their home a few hours a day to help McKaela with daily living skills. “McKaela is still very limited in the amount of things that she is able to do outside of the home because of the varying diagnoses and symptoms associated with this disorder,” says Heather, who works as a life coach for families affected by disabilities.
One outing that McKaela enjoys is shopping at Lowe’s home improvement store. She likes the forklifts and the beeping noise they make when they are moving. If the forklifts are parked, she touches them and runs away. Her mother believes McKaela is trying to challenge herself and confront her fear of big, noisy equipment. “She’s trying to be brave in her environment.”
At home, McKaela likes using mobile tablets and phones. “She can navigate her way around most games and YouTube videos with just a few taps on the screen,” Heather says. Although McKaela does not type, she can quickly find her favorite videos, even after her mother clears the history on the device’s browser. McKaela also enjoys the company of her 19-year-old brother, and two sisters, who are 18 and 16.
Heather hopes that researchers will find the solutions that adults like McKaela need to reach their potential – and do so quickly. Is there a barrier to developing treatments, she asks. And, like the determined advocate that she is, she wants to know, “What can be done by parents and caregivers to overcome it?”
Interested in joining SPARK? Here’s what you should know.
Photo provided by Heather Bensch.
- Explore SPARK articles and videos about genes linked to autism.
- Learn about Simons Searchlight and SYNGAP1-related syndrome.