A Genetic Discovery of Hope

When Theresa was pregnant with her son Jeffrey, she was told by her medical team after an ultrasound and two MRIs that he might have physical and developmental delays.

He was born 17 days early. At 4 months old, Jeffrey’s pediatrician suggested another MRI because they saw that he was not tracking during eye tests, and his head moved backwards when picked up. When he was 7 months old, Jeffrey started early intervention physical therapy. At 15 months he started occupational therapy, and when he was 2 he started speech therapy.

For Theresa, her personal journey to medical discovery did not include a clear diagnosis until she had given birth to Jeffrey. She was told her entire life that she had cerebral palsy (CP), a general term applied to many conditions that can result from a disturbance to the developing brain. CP affects muscle tone, movement and coordination, and can make it difficult for a child to control the movement of their body. She was also told that she had a global developmental delay, meaning she exhibited symptoms of two or more developmental delays. Once Jeffrey was born, both he and Theresa had an exome sequencing blood test to determine if there are any genetic developmental disabilities.

After the blood test, it was determined that both Jeffrey and his mother have the condition spinocerebellar ataxia type 29 (SCA29). Every person living with SCA29 is affected differently. For Jeffrey, he has hypotonia, hypertonia, ADHD, ataxic dysarthria, scoliosis and an intellectual disability. For Theresa, she had scoliosis as a child, didn’t walk independently until she was 7 years old, and now in adulthood deals with her legs and vocal cords tiring towards the end of the day.

When Jeffrey was a young child, he was diagnosed with scoliosis, a condition that causes the spine to curve in a C shape or S shape, rather than growing in a straight line.

Jeffrey first came to Shriners Children’s Philadelphia for scoliosis treatment when he was 5 years old and was treated by Steven Hwang, M.D. He did not receive surgery but was given a brace made for him from Pediatric Orthotic and Prosthetic Services (POPS). He had to wear his back brace for 20 hours a day for two years. As a result of wearing this brace, his scoliosis improved significantly, and he no longer has to wear any back bracing. He is still being treated by Dr. Hwang for follow-up appointments to this day. Theresa’s advice to parents of children who need bracing for scoliosis is, “Don’t be afraid of the bracing at a young age. Kids are resilient.”

For the past three years, Jeffrey has been treated by Richard Goldberg, D.O., and Bethany Lipa, M.D., for physical medicine and rehabilitation. His surgeon, Sean Waldron, M.D., performed his bilateral feet triple arthrodesis surgery to help Jeffrey walk independently. After surgery, he was in casts for six weeks and now wears his signature purple leg braces from POPS.

In terms of speech, Jeffrey prefers to speak audibly but, when needed, uses his augmentative and alternative communication device, which he affectionately named “Bobby.” Bobby displayed a message Jeffrey shared with his occupational and physical therapists: “My goal is to walk into the Bluey movie by myself in 2027. Thank you for helping my dream come true!”

Jeffrey’s hobbies include watching movies and television. He loves the teen lounge at Shriners Children’s Philadelphia because of its plethora of DVD options. When not in the hospital, Jeffrey goes to his fifth-grade life skills class in school.

Theresa said, “I am very grateful and impressed by the level of care for Jeffrey and how detail-oriented [his care team] is.” Our wrap-around care has offered Jeffrey the ability to see providers that help him receive the care he needs while maintaining consistency with the team approach.

Theresa stated that she is in a social media group for SCA29 and is willing to help anyone out on their path to discovery of their diagnosis, as well as help parents of children waiting for a diagnosis. During that challenging time of waiting, she said, “Don’t give up hope, spend time with them and play on their level.”