Date Updated: September 22, 2021
We are celebrating SPARK’s fifth anniversary with stories about the first families who joined.
Soon after her son’s autism diagnosis, Windus Fernandez Brinkkord joined a new autism research study called SPARK. She hoped to learn more about autism, but not necessarily about her son, Bradley.
During the next five years, she and Bradley’s father, Kurt Brinkkord, helped their son through school, behavioral, and medical problems, and a hospital stay. They did not have time to wonder about the saliva sample that Bradley had given SPARK for DNA analysis.
So it was a surprise in 2021 when they learned that SPARK had news for 10-year-old Bradley. Researchers had found something in Bradley’s DNA that explained his autism: a change in a gene called TRIO.
Changes to this gene may cause learning problems, autism, and aggression, all of which Bradley has. And now his mother wondered: What else about Bradley and his medical journey did this news explain?
The Long Road to Diagnosis
People with autism are more likely to have certain other health conditions, and Bradley is no exception. But his journey has been more complicated than many children his age, even those who have autism.
As a toddler, Bradley walked and talked later than usual, but not so late as to concern his pediatrician. When he was almost 3, his mother realized that his speech and social skills were not as advanced as those of his sister, who is 11 months younger.
“We probably knew there was something a little bit different with Bradley when he was 2 and a half to 3 years old. However, we did not get a diagnosis for a couple years, and the diagnosis process was awful and painful,” Fernandez Brinkkord says.
Like many children with autism, Bradley did not sleep well. A preschool had asked him to leave because his teacher could not manage his behavior. Professionals offered advice about Bradley’s behavior, but it was not helpful, his mother recalls.
One day she mentioned Bradley’s challenges to a business client, who happened to be a pediatric neurologist. The client recommended that Bradley see one of his colleagues. That doctor diagnosed Bradley with autism at age 4, and also began to treat his insomnia.
The autism diagnosis brought some hope to his parents. Maybe now they could find the right therapies and school for their son.
But they soon ran into difficulties with their school system in California. The couple lobbied to have Bradley labeled with his actual diagnosis, autism, when his special education plan was developed. The school had recommended a label of “other health impaired,” but that might have affected his ability to get some services, his mother says.
They also began a long struggle to find a school program that could meet his learning and behavioral needs. He changed schools almost yearly. When he was in third grade, he hit a teacher and damaged a classroom during an emotional outburst.
Fernandez Brinkkord became a passionate advocate for her son. She often asked to record school meetings to have proof of what was said. “I’m not afraid to be aggressive,” she says. She also hired a special education attorney to help Bradley get an Individualized Education Program that would help him succeed.
After Autism, a Second Diagnosis
While in elementary school, Bradley was diagnosed with bipolar disorder. The condition causes a person’s mood to swing from mania, or overactivity, to depression. Bipolar disorder is usually first diagnosed in young adults and older teens, but it can occur in children.
Bipolar disorder is more common in adults with autism than in others, according to research.1 A SPARK study of autistic adults who have guardians found that about 10 percent have bipolar disorder.2 That rate is four to five times higher than found in adults who do not have autism.
But finding the right psychiatric medication for Bradley was not easy. One medicine caused Bradley to develop Stevens-Johnson syndrome, a rare and severe skin reaction. He was in the hospital for 15 days to treat the reaction, which can be triggered by different medications, including some antibiotics.
“We were struggling to find what level ground looks like for Bradley, to get him into the right school and get him on the right medication,” Fernandez Brinkkord recalls of those days.
A Third Diagnosis, from SPARK
By 2021, Bradley had fully recovered from Stevens-Johnson syndrome, but he still had some scars. He was also thriving in a nonpublic school for students with autism and related conditions. “I had a little bit more breathing room,” his mother says. About that time, she learned that SPARK had found a change in Bradley’s TRIO gene.
She was one of SPARK’s first participants when she joined through a partner site at the University of California, San Diego, Autism Center. Since then, SPARK has become the largest study of autism, and analyzed the DNA of thousands of participants. SPARK usually asks parents to submit saliva samples, along with their children. But since Bradley is adopted, his parents did not need to send samples.
A TRIO gene diagnosis is very rare. As of 2020, only 20 people worldwide have been diagnosed with a change to their TRIO gene. Researchers had detailed information about only 10 of them. Many of the 10 people have motor and language delays, autism, aggressive behavior, obsessive-compulsive behavior, short tapering fingers, disrupted sleep, and learning problems.3 Aggressive and compulsive or repetitive behaviors are not uncommon in autism.
Bradley joined Simons Searchlight, SPARK’s sister program, which promotes research into rare conditions caused by genes such as TRIO.
His mother wonders if the TRIO gene explains Bradley’s bipolar disorder. A 2019 study from Yale University researchers, which involved mice, mentions a connection between the TRIO gene and autism, bipolar disorder, schizophrenia, and other conditions.4
“His genetic change was the thing that helped us to step back and think about what we are trying to achieve as parents,” she says. She hopes an upcoming appointment with a geneticist will help them to better understand what his genetic diagnosis might mean for him.
Seeing the Ability in Bradley
Regardless of what they learn, one thing is already clear. Bradley is much more than his struggles with learning and behavior. He is energetic, creative, and very kind, his mother says. He understands when people feel hurt. And he loves animals, including the family’s four chickens, rabbit, and two dogs.
He enjoys playing with a large collection of toy cars and trucks, and knows each one. “If one is missing, the meltdown is vast,” his mother says. The Brinkkords believe it’s important to create a stable environment for him, to help him manage emotions and impulses that are hard for him to control. They give him breaks to move around, and fidget toys to use.
A behavioral psychologist once said that Bradley was one of the most complex children she had ever assessed, Fernandez Brinkkord recalls. “She said that you will never know what he’s truly capable of because of all the emotional issues, which can hide a person’s ability.”
Now, she’s happy to say, he attends a school where teachers see his abilities.
Photo credit: 147Photos
- Read a SPARK article, Autism and the Risk of Bipolar Disorder
- Read a SPARK article, Understanding Aggressive Behavior in Autism
- See SPARK articles on diagnosing depression and treating depression in people with autism
- Learn more about a SPARK study of psychiatric disorders in dependent autistic adults
- Croen L.A. et al. Autism 19, 814-823 (2015) PubMed
- Fombonne E. et al. J. Autism Dev. Disord. 50, 3679-3698 (2020) PubMed
- Varvagiannis K. et al. GeneReviews (2017) PubMed
- Hathaway B. https://news.yale.edu/2019/03/05/single-gene-linked-host-abnormalities-during-neurodevelopment. Accessed Sept. 2, 2021