‘This data could help a kiddo 10 years from now’: Why one family takes part in Down syndrome research
By Marybeth Bizjak
The Gutierrez family is a regular study participant at the UC Davis MIND Institute
(SACRAMENTO)
In many ways, Jorden Gutierrez is an ordinary 9-year-old boy. He goes to school and to the park. He likes to read, do puzzles, jump on a trampoline and play basketball. He loves all things Disney; this year, he dressed up as Goofy for Halloween.
But in one way at least, Jorden is extraordinary. As a participant in multiple studies through the UC Davis MIND Institute, he is helping doctors and researchers figure out how to better help people with Down syndrome and other developmental disabilities.
Jorden Gutierrez is an active 9-year-old boy who enjoys Disney, sports and having fun with his mom, Henrietta (pictured far right)
Henrietta Gutierrez, Jorden’s mom, was 17 weeks pregnant and living in Southern California when she learned that her developing baby had Down syndrome, a chromosomal condition that affects the way a baby’s body and brain develop. Further testing showed that the fetus also had a hole in its heart, which is common for babies with Down syndrome. Her partner didn’t want her to continue the pregnancy.
Already mother to a 1-year-old son, she decided to have the baby, and she and her partner split up. She gave birth to Jorden at 39 weeks. “He was 7 pounds 11 ounces, crying and beautiful, and I knew I’d made the right decision,” she said.
A sick baby and the search for information
At home, Jorden struggled to eat and grow. When he was less than a month old, Gutierrez moved to Sacramento to be closer to family. Over the next year, Jorden had two surgeries to repair the hole in his heart. He also spent time in the hospital on a ventilator for collapsed lungs.
“I didn’t know if he was going to make it,” said Gutierrez, tearing up at the memory. When Jorden went home just before his first birthday, he was still on a ventilator and was fed through a tube. Caring for him was a full-time job. “I learned a lot,” she said, adding with a laugh, “I could be a doctor.”
Slowly but surely, Jorden got better. He started walking just before his third birthday and had his feeding tube removed when he was almost 4. Then, said Gutierrez, “he soared.”
For Gutierrez, learning to care for a child with Down syndrome was overwhelming. Medical professionals threw resources at her: Go here, talk to this person, read this book. When Jorden was a year old, she took him to the Neurocognitive Development Lab at the UC Davis Center for Mind and Brain for an evaluation. It was her introduction to understanding that her son’s development would unfold differently from other children.
Studies produce results that families can use
She started enrolling Jorden in clinical research studies at the UC Davis MIND Institute, a research and clinical care center that specializes in autism, Down syndrome, fragile X syndrome and other neurodevelopmental disabilities.
Jorden took part in a play-based study that looked at early communication and spoken language development in children with Down syndrome. Jorden and the researcher were in a room filled with toys. Jorden was allowed to select a toy and play with it before he was asked to perform a verbal or problem-solving task. Gutierrez watched in the next room from behind a one-way window. Seeing how the researcher interacted with her son, she mimicked those techniques at home to teach Jorden skills like remembering the alphabet or writing his name.
Professor of Psychiatry and Behavioral Sciences Angela John Thurman is the lead investigator on the play-based study. She notes that most research into communication development in children with Down syndrome has focused on group-level performance, which can mask individual differences.
“With the help of families like Jorden’s, we hope to address these gaps in the field and improve our ability to support families,” Thurman explained.
He is so positive, social and works so hard at the activities he’s presented. Jorden is unforgettable.”—Angela John Thurman, professor, Department of Psychiatry and Behavioral Sciences
Because the medicine he was taking for his ADHD (attention-deficit/hyperactivity disorder) wasn’t working, Jorden’s mom also enrolled him in a nine-month study on the safety and dosing of ADHD medication in children with Down syndrome. During that period, researchers trialed different dosing levels while monitoring heart activity, eventually landing on a “happy medium” dosage before the trial was even concluded.
“Jorden was an amazing participant and was a pro at the heart monitoring within a few visits,” said lead investigator Kathy Angkustsiri, a developmental-behavioral pediatrician.
Gutierrez praises the people at the MIND Institute who run the studies. “The staff is very solicitous and supportive,” she said. “They make Jorden feel so welcomed. If he isn’t feeling it, they’re like, ‘it’s OK, we can do it another day.’”
Not all the research studies Jorden participates in provide a direct benefit to him. One study tested a smartphone-based assessment tool of executive dysfunction in children with neurodevelopmental conditions. Gutierrez installed the app on her phone and answered questions about her child’s behavior and functioning every evening. She doesn’t know if Jorden will gain anything valuable from his participation. She signed him up anyway in the hope that it will someday help other children with Down syndrome.
“This data could help a kiddo 10 years from now,” she explained. “That’s what we’re here as humans for, to learn from each other.”
Jorden was an amazing participant and was a pro at the heart monitoring within a few visits.”—Kathy Angkustsiri, developmental-behavioral pediatrician
The involvement required from a MIND Institute study participant varies depending on the topic. Some studies require only a few telehealth or home visits; others might require multiple in-person visits, blood draws or MRIs. At the end of each study, Gutierrez receives a written report with results, information and resources.
Study participants range in age from 6 months to 90 years old. The MIND Institute is currently conducting a study to develop a cognitive test battery for aging adults with intellectual disabilities.
The MIND Institute reaches out to Gutierrez by phone or email whenever there’s an appropriate study for Jorden. She’s also enrolled in the MIND Institute’s Research Participant Registry, a database that matches potential research participants with studies. It’s free to sign up. Her attitude? “If Jorden qualifies, I’m going to do it.” She urges parents in her Down syndrome support group to sign up their kids, too.
At 9 years old, Jorden is contributing immeasurably to the world through his participation in the MIND Institute’s clinical research studies. Thurman, for one, is grateful. “He is so positive, social and works so hard at the activities he’s presented,” she said. “Jorden is unforgettable.”
The UC Davis MIND Institute in Sacramento, Calif. was founded in 1998 as a unique interdisciplinary research center where families, community leaders, researchers, clinicians and volunteers work together toward a common goal: researching causes, treatments and potential prevention of challenges associated with neurodevelopmental disabilities. The institute has major research efforts in autism, fragile X syndrome, chromosome 22q11.2 deletion syndrome, attention-deficit/hyperactivity disorder (ADHD) and Down syndrome. More information about the institute and its Distinguished Lecturer Series, including previous presentations in this series, is available on the Web at mindinstitute.ucdavis.edu.
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