Discover SPARK
A Mother’s Push for Answers Leads to Autism Diagnoses
Marina Sarris
Date Published: August 28, 2024
Emily Ransom knew something was different about her first-born, a boy named Kash. Kash took longer to crawl and walk than other babies. By his first birthday, he had grown silent, no longer saying mama and dada. But his doctor and others did not share her concerns.
Ransom trusted her instincts. “I kept pushing for answers for Kash. I just knew in my heart that he was on the spectrum or there was something else going on,” she says. She convinced Kash’s doctor to refer him for developmental testing, and then waited five months for the appointment.
While she waited, she enrolled Kash in Indiana’s early intervention program, so he could begin therapies for speech and motor delays right away. He also saw a neurologist for seizures, which are more common in autistic people than in others.
The day of his appointment with a developmental specialist finally arrived. After two hours with Kash, the doctor concluded that the two-year-old had “severe, classic signs of autism,” recalls Ransom, a participant in the SPARK autism study.
Beginning an Autism Journey
Ransom felt a mix of emotions when she heard those words. “It was sad, because this is a new journey I’m going to have to navigate,” Ransom says, “but I was glad that we got an answer.”
First, she enrolled Kash in the nearest autism program that had an opening, even though it was more than an hour’s drive from their home in Indiana.
While Kash was receiving applied behavior analysis (ABA) therapy for autism, Ransom returned to school to learn how she could help him, and others like him. She studied behavior analysis and special education, earning bachelor’s and master’s degrees. ABA is one of several evidence-based therapies for autism.
Ransom became a registered behavior consultant for children with developmental delays. “I go into homes and help families that are having challenging behaviors find ways to work through them.”
Another step in her journey was registering for SPARK, the world’s largest autism research study, in 2017. The Ransoms saw a brochure about the study in a medical office. Emily, husband Adam, and Kash submitted saliva samples for DNA analysis by SPARK researchers.
In the meantime, a doctor referred Kash to a genetics specialist. The geneticist ordered tests that found a rare variation in one of Kash’s genes, called PLXNA3.
In 2021, an international group of researchers published a study of 14 boys with PLXNA3 variants and “a range of neurodevelopmental disorders,” including intellectual disability, autism, mild to severe language delay, and/or ADHD. Thirteen of the boys have autism, and six have seizures.1
The Simons Foundation Autism Research Initiative, which supports SPARK, considers PLXNA3 to be a “strong candidate” gene for causing autism, but the link is not definite yet.
A Second Child, A Second Diagnosis
When Kash was 5, Ransom and husband Adam welcomed his sister, Briella.
As a youngster, Briella began to show some signs of autism. She had speech delay, flapped her hands, lined up toys, and got very upset if her mom moved something, an autistic trait called “insistence on sameness.” Briella was diagnosed with autism at 2, after a nine-month wait for an evaluation. Her parents enrolled her in the same autism program that Kash attended, and also registered her with SPARK.
The Ransoms are among the 12 percent of SPARK families who have more than one child on the autism spectrum. The younger siblings of autistic children are eight times more likely to have autism than the general population, according to a multinational study.2
But just as siblings may have different likes and dislikes, their autism may look different too. That is true for the Ransoms.
Kash is a spunky, sweet, nine-year-old who loves swimming and being outdoors, his mother says. He uses sign language and an electronic device to communicate. He attends a school for autistic children that is covered by his health insurance.
Briella, 4, loves dancing, both around her home and in mini competitions with her dance class. She excels in ballet and jazz, her mother says. Briella speaks in sentences to communicate. She has made so much progress at her autism preschool that she will likely attend kindergarten at her local elementary school, Ransom says.
Briella has the same gene variation as her brother. Little is known about how a PLXNA3 variant, which is on the X chromosome, affects girls. Girls have two copies of the X chromosome, so a variation of the PLXNA3 gene on one chromosome may have little or no effect on girls, by itself. Boys have only one X chromosome, so a gene variant there will likely have a larger effect on their development than girls.
Hoping That Research Leads to Understanding of Autism
Ransom, a member of SPARK’s Community Advisory Council, hopes that research will help families better understand autism and how to support their children on the spectrum.
Research could also help communities better understand and support autistic people and families.
Ransom says that sometimes people do not understand the challenges that families like hers may face. “The hardest thing we’ve experienced, since having two kids on the spectrum, is that friends and even family members disappear because our life is not typical. We can’t just pick up the kids and go to an event, or maybe we have to cancel, because our kids are having a rough day.”
“You can feel really isolated. So, it’s always nice to find families just like ours to talk to because they get it. And they understand that sometimes you have to cancel at the last minute,” she says.
Interested in joining SPARK? Here’s what you should know.
Photo provided by Emily Ransom.