A photo of the Brinkkord family

Marina Sarris

Date Revised: February 4, 2025

Windus Fernandez Brinkkord joined the SPARK autism study in 2016, soon after the autism diagnosis of her son, Bradley. She hoped to learn more about autism, but not necessarily about Bradley.

During the years that followed, she and Bradley’s father, Kurt Brinkkord, helped their son through many 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 Bradley, who was then 10 years old. Researchers found something that explained his autism: a rare change in a gene called TRIO.

Changes to this gene may cause learning problems, autism, and aggressive behavior, 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 an Autism 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 that of many other children on the autism spectrum.

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 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 adults and older teens, but it can occur in children.

Bipolar disorder is more common in adults with autism than in other people, 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, This One 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 developmental conditions. “I had a little bit more breathing room,” his mother says.

About that time, she got an email from SPARK about Bradley’s DNA sample. The family had been one of SPARK’s first participants when they joined through a partner site at the University of California, San Diego, Autism Center. 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.

SPARK discovered that Bradley has a rare variation in his TRIO gene. As of 2023, researchers had studied 57 people worldwide with a TRIO-related neurodevelopmental condition.3 Many of them have motor and language delays, autism, aggressive behavior, obsessive-compulsive behavior, disrupted sleep, learning problems, or intellectual disability.4 People with autism also may have problems with aggression, compulsive behaviors, learning, and sleep.

Bradley joined Simons Searchlight, SPARK’s sister program, which speeds up research into rare conditions caused by changes in genes such as TRIO. He is among 40 people with a TRIO variation in Simons Searchlight.

Shortly after his TRIO diagnosis, his mother wondered if the condition explains Bradley’s bipolar disorder. An earlier study from Yale University researchers, which involved mice, mentioned a connection between TRIO gene variations and autism, bipolar disorder, schizophrenia, and other conditions.5 Then, in 2023, researchers studying people with TRIO variations described an 11-year-old boy with bipolar disorder, and a 7-year-old boy with mood swings and sudden bursts of laughter.3

Bradley’s genetic diagnosis caused his parents to reevaluate their goals. “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.

Seeing the Ability in Bradley

One thing is clear. Bradley, who is now 14, is much more than his struggles with learning and behavior. He is energetic, creative, and kind, his mother says. He understands when people feel hurt. And he loves animals, including the family’s four chickens, two rabbits, and three dogs.

The eighth grader is active in sports. He swims with the Special Olympics and plays baseball on a Miracle League team for youth with disabilities. He also enjoys creating imaginative scenarios that involve costumes. “He really wants to do some theater. I’m looking at some theater groups that might work with kids like Bradley,” his mother says.

The family believes 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.

At school, teachers “have compassion when he’s having a bad day, but they still hold him accountable,” she says. He has far fewer bad days than he used to have.

Bradley’s experience has Fernandez Brinkkord concerned about others with TRIO-related conditions. What happens to those who do not get a diagnosis in childhood and do not receive the right behavioral support at home and school? They could be expelled from school and end up in jail, she says. “If there was more awareness that these behaviors might be bigger than just autism, that they might be from a genetic change, and that they might need more support — that could make a big impact on a kid’s ability to be taken care of in society.”

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.”

Fortunately, he has parents and teachers who see his abilities.

Photo credit: 147Photos

References

  1. Croen L.A. et al. Autism 19, 814-823 (2015) PubMed
  2. Fombonne E. et al. J. Autism Dev. Disord. 50, 3679-3698 (2020) PubMed
  3. Gazdagh G. et al. Am. J. Med. Genet. A. 191, 1722-1740 (2023) PubMed
  4. Varvagiannis K. et al. GeneReviews (2023) PubMed
  5. Katrancha S.M. et al. Cell Rep. 26, 2805-2817 (2019) PubMed