Life with Autism, Times Five
Date Revised: October 22, 2021
We are celebrating SPARK’s fifth anniversary with stories about the first families who joined.
Bill and Stephanie McBride probably know more about autism than most parents: all four of their children are on the autism spectrum, as is Bill.
That is why they suspected that one son, Ryder, has a different kind of autism. He does not talk, and he has seizures, scoliosis, and other medical problems that his siblings do not have. They wondered if genes might hold the clue to his autism, Stephanie says.
In 2016, they became one of the first 50 families to join SPARK, a new genetic study of autism. Each family member contributed a saliva sample for DNA analysis. Since then, more than 275,000 people have joined SPARK. Researchers have used an analysis of participants’ DNA, along with information from other genetic studies, to uncover many genes that contribute to autism.
About a year after they joined the study, the McBrides received an email from SPARK. Their hunch was right. SPARK had analyzed the family’s DNA and had news about Ryder, who is now 17.
In a call with Wendy Chung, M.D., Ph.D., the principal investigator of SPARK, the McBrides learned that Ryder has a syndrome that is caused by a change to his ADNP gene. ADNP, or Activity Dependent Neuroprotective Protein, plays a role in brain development and regulates other genes. In Ryder’s case, the genetic change did not come from his parents. It happened by chance in his genes early in development.
Symptoms of ADNP syndrome may include autism, speech delay, feeding problems in infancy, low muscle tone, and intellectual disability.
The McBrides believe Ryder is the only person in their home state of Idaho with an ADNP diagnosis. “I was very relieved when we finally got an answer,” Stephanie says.
When he joined SPARK, Ryder’s health insurance would not pay for the genetic analysis needed to uncover ADNP syndrome, she says. Without SPARK, Ryder’s syndrome may have continued to be undiagnosed.
It may be easier today to get tested for ADNP. Two labs have included ADNP on their developmental disability panels, according to the ADNP Kids Research Foundation.
More than 270 people worldwide have an ADNP diagnosis, according to the Mount Sinai Health System. After Ryder’s diagnosis, the McBrides joined Simons Searchlight, which promotes research into rare genetic conditions such as ADNP.
What About Other Family Members?
Bill remembers asking if SPARK had any genetic news about his other three children. But SPARK did not find any genetic changes that are linked to autism in other family members, he says.
“It’s still a mystery,” Stephanie says.
As more people join SPARK, which is now the largest study of autism, researchers expect to find more genes that contribute to autism. As they do so, they will re-examine participants’ DNA to see if they have a newly discovered change to a gene or chromosome. SPARK notifies study participants if it finds a genetic change that is linked to autism.
Besides Ryder, the McBride clan includes daughter Mercedes, 25, and sons Hunter, 20, and Mason, 19. All live at home. Mercedes graduated from Idaho State University and loves history. Hunter and Mason both graduated from an online high school in 2019. Hunter plans to take the written test for a driver’s license this year. Mason is interested in computer programming.
Ryder uses sign language to communicate “yes,” “no,” “more,” and other words.
Concerns in Childhood, a Diagnosis in Adulthood
Their father, Bill, was diagnosed more than a decade ago, around the time that his youngest son, Ryder, received an autism diagnosis.
When Bill was a child, his developmental differences attracted the attention of his uncle, a psychologist. But Bill’s parents believed he was fine. “My parents didn’t get the whole psychology thing,” he says. His mother pointed out that Bill knew “everything there was to know about dinosaurs,” Bill recalls. Having a special interest in a particular topic, like dinosaurs, may be a symptom of autism. But that was not well known when Bill was growing up in the 1970s. It also was harder to get an autism diagnosis back then because the diagnostic criteria were narrower than they are today.
“I grew up thinking ‘I’m just stupid and lazy, and I just have to try harder.’ And that never worked,” Bill says.
Bill decided to get tested for autism spectrum disorder after his children began getting diagnosed with the condition. At the time, he was struggling with keeping a job even though he is smart and capable. He wonders if his life would have been different had he received interventions in childhood that would have helped him with social anxiety and with staying organized and focused.
The McBrides hope that research will help uncover information about why autism affects people differently. “I wonder if there are subgroups of autism spectrum disorder,” Stephanie says. She wonders why her son Mason is 6 foot, 7 inches, tall ― taller than other relatives ― and has endocrine issues, for example.
Having a genetic diagnosis for Ryder enabled the McBrides to look for possible treatments targeted to his type of autism. They shared the diagnosis with his doctors. They are watching for the results of a small clinical trial of low-dose ketamine for ADNP syndrome. That research study is taking place at Seaver Autism Center for Research and Treatment at Mount Sinai in New York. The study is the brainchild of two parents, Matthew Davis, M.D., and SPARK member Sandra Sermone.
Several years ago, Stephanie McBride contributed a chapter to a book, “Easy to Love but Hard to Live With,” about adults with disabilities and those who love them. In it, Stephanie described her experiences as the wife and mother of people on the spectrum. Autism affects every aspect of her life, she explained in that chapter. “It is a way of being. … I have learned patience, tolerance, and compassion. I try to look at the world around me from a different perspective ― from the perspective of a person with autism.”1
Photo courtesy of Stephanie McBride.
- View Simons Searchlight’s ADNP summary for information and resources.
- To learn about Sandra Sermone and her creation of the ADNP Kids Research Foundation, see “The Fight for Tony: A Mother’s Quest to Unravel a Mystery and Push Autism Research Forward.”
- For information on the ADNP ketamine study, see the Mount Sinai website.
- McBride, S. “Together, Alone,” in Easy to Love but Hard to Live With: Real People, Invisible Disabilities, True Stores (Vol. 2) by Bliven-Chasinoff, T. and Davis, L. DRT Press (2014)