Cook Children's Clinic Helps Families Navigate Down Syndrome
On World Down Syndrome Day, we're highlighting our clinic as a tool that educates, addresses concerns and gives encouragement to families.
By Jean Yaeger
Betzavel Segura’s trip to the Down syndrome clinic at Cook Children’s gave the 4-year-old girl the chance to show her skills and her challenges to a variety of specialists.
She named the colors she knows. She jumped around. And in a game for speech therapy, she practiced making animal sounds.
“For her, it was playing. But for the medical providers it was watching to see what she would do,” said mom Erika Quijas, who calls her daughter Betzi for short.
Betzi has a love for dolls, a knack for puzzles, and a happy attitude most of the time. But she struggles with pronunciation, and she gets frustrated when others don’t understand what she’s saying. And she’s picky about the texture of certain foods. Her parents wanted some professional guidance.
In a span of four hours at the clinic, Betzi was examined by a pediatric geneticist and met with experts from multiple fields related to her Down syndrome diagnosis. She had fun at the appointment -- and her parents came away with practical advice and information to take back to Betzi’s primary care doctor and teachers in Mineral Wells.
Every year, about 5,000 babies in the United States are born with Down syndrome, a disorder caused by an extra chromosome. Cells dividing in the embryo have three copies of chromosome number 21 instead of the usual two. The condition can lead to heart defects, hearing loss, eye disease, thyroid problems and other medical concerns. Feeding, development and learning can be affected.
World Down Syndrome Day connects today’s date (March 21) to the three copies of the 21st chromosome in a symbolic way to help raise awareness. It’s an occasion for Cook Children’s to spotlight our clinic as a tool that educates, addresses concerns and gives encouragement to families.
First, the full name … Nannie Hogan Boyd Down Syndrome Clinic and Resource Center, affiliated with the Cook Children’s Genetics Clinic. Cook Children’s Rehabilitation Services, Child Study Center, the Down Syndrome Partnership of North Texas and the Nannie Hogan Boyd Trust support the program. The clinic has served an estimated 500 children and teens since it opened.
“The design was to provide a more comprehensive program for families with children with Down syndrome so they could get all their evaluations in one place,” said pediatric geneticist Mary Kukolich, M.D., who started the clinic in 1998 and continues to lead the team.
Dr. Kukolich said participants across a wide region of Texas are attracted by the convenience of seeing multiple specialties in one stop. Enrollment is limited to four or five patients at a time. Each receives a personalized itinerary.
What’s offered? Dr. Kukolich does an exam and genetics consultation to check the patient’s growth, heartbeat, muscle tone, thyroid function and more. Blood tests and X-rays might be ordered.
Available as a bonus: speech therapy, occupational therapy, physical therapy, audiology, nutrition and psychology. The patient’s caretakers choose which specialties they want to go to for screenings or consultations.
When? Every other month. Most slots for the 2023 clinics are already filled, but more dates might be added depending on the level of interest.
Who can sign up? Anyone with Down syndrome from ages 3-18 is welcome. If the child is not already established as a Cook Children’s Genetics patient, a pediatrician’s referral is needed. Clinic organizers recommend a visit every three years.
Where is it located? 750 8th Ave., Suite 200 in Fort Worth
What’s the cost? The genetics consultation and audiology visits are billed to insurance; no charge for the rest.
Clinic coordinator Audrey Hicks, LMSW creates an individualized schedule for each participant.
“I call the patients a month before their appointment and I talk to the parent about how the child is doing. We discuss their development and health, and then we decide which specialists they need to see,” Hicks said.
“A lot of these kids already have therapies maybe in school or maybe private,” she said. “The clinic gives them an opportunity to have people with fresh eyes who can take another look and give them a new perspective. At the end of the day, each family gets a full report of the findings and suggestions from each of the specialists.”
Therapists might recommend an extracurricular activity, a new behavioral technique to try, or a resource the family wasn’t aware of. Parents are urged to ask questions and express their concerns on topics such as puberty or options after high school.
“Families with kids with disabilities can feel very isolated, and this is just another way to help support them, to make them know that we care about them, that we are trying to help the whole picture,” Hicks said.
When she was 7 months old, Betzi had surgery at Cook Children’s to repair two holes in her heart. She travels to Fort Worth for routine check-ups for cardiology and pulmonology care, as well as eye and ear exams.
Texas Early Childhood Intervention (ECI) provided speech therapy and physical therapy until Betzi turned 3. Now that she’s 4, her speech and occupational therapy happen at school in Mineral Wells. Her dad, Armando Segura, follows up at home with extra speech practice in fun ways that Betzi enjoys. Armando and Erika were eager to seek out additional input from the Down Syndrome clinic at Cook Children’s.
Here are highlights from their visit in November 2022:
- The physical therapist watched Betzi jump and checked her hips and muscle tone. The therapist recommended shoe inserts to support her weak ankles.
- The speech therapist advised Betzi’s parents to exaggerate the pronunciation of words while Betzi watched their mouths. Erika asked if talking at home in both English and Spanish was making speech harder for Betzi. (Answer: No.)
- The nutritionist suggested chopping fruits and veggies into smaller bites – or mashing them into smoothies – to work around Betzi’s issue with food textures.
- The psychologist discussed strategies to keep Betzi from flinging her plate when she wants attention at dinner.
Betzi stayed in a good mood for the entire four-hour session thanks to the juice and snacks her mom packed. The kindness of the clinic staff played a role too in keeping Betzi comfortable and entertained. “They were just really nice and patient,” Erika said.
Erika especially appreciated the tips that the specialists shared and the summary report at the end. She encourages other parents to utilize the clinic. And Erika wants everyone to know that like all people with Down syndrome, Betzi is much more than her diagnosis.
“She plays, she cries, she gets mad just like any other kid does. There’s no reason to treat her differently.”
Schedule an appointment at the Down syndrome clinic by calling 682-885-3951.
One of the largest pediatric genetics centers in the United States can be found at Cook Children’s, where we offer diagnostic testing and long-term follow-up care for children with Down syndrome. Our expert team includes geneticists, genetic counselors, nurse practitioners, case managers, social workers, a dietitian, medical assistants and insurance specialists. To learn more, go to: Cook Children's Genetics (cookchildrens.org).