Kayla

For as long as Susie can remember, her 15-year-old daughter, Kayla, has woken up with a smile on her face and gone to bed with a smile on her face. It’s Susie’s biggest joy in life, seeing Kayla smile each day, especially when she thinks back on all her family has been through since Kayla was an infant. It was then Kayla was diagnosed with glutaric acidemia type 1, a devastating disorder that has left her primarily bed-ridden and non-verbal—but it could never rob her of her smile. This is Kayla’s story.

Million Dollar Smile

Kayla’s parents, Susie and John, remember the first months of their daughter, Kayla’s, life as normal. Not yet 6 months old, the bubbly infant was already sitting upright in her walker. Sadly, nothing in Kayla’s physical or mental development gave any hint of what was happening at the cellular level as certain amino acids (lysine, hydroxylysine and tryptophan) and their byproducts were building to increasingly dangerous levels in the baby’s system.

Glutaric acidemia type 1 (GA 1) left Kayla unable to walk or talk, but it could never rob her of her beautiful smile, which mom, Susie, says is the joy of her life.The family’s life changed in the blink of an eye when Kayla went into a seizure state at about 8 months of age, permanently losing most of her large motor function, including the ability to sit up. Susie and John traveled from their home in Lumberton, N.C., to UNC in Chapel Hill in hopes of finding answers.

Specialists in the Division of Genetics and Metabolism soon had a diagnosis: Kayla had inherited glutaric acidemia type 1, or GA 1, a genetic disorder affecting the body’s ability to process certain proteins. Lacking adequate amounts of a specific enzyme, Kayla was helpless against the toxic cellular accumulation that was destined to permanently damage her brain, particularly the regions that help control movement. Kayla would never be “normal” again.

In August 1997—just one year after Kayla’s birth and five months after her first visit to UNC—faculty within the Division of Genetics and Metabolism at UNC piloted expanded newborn screening that included testing for GA 1.

“Through the work of our division, North Carolina became one of the first two states in the nation to provide genetic testing for GA 1 to all newborns through tandem mass spectrometry analysis of the newborn blood spot,” explains Dr. Cynthia Powell, chief of the Division of Genetics and Metabolism within the Department of Pediatrics in the UNC School of Medicine. “Just one spot of blood, and the outcome is entirely different.”

Through early detection and a specialized diet, Dr. Powell and her team can now prevent the devastating neurological effects of GA 1 that Kayla has experienced.

“Family education is paramount,” says Surekha Pendyal, a dietitian within the genetics and metabolism program. “From the time of diagnosis, the child eats low protein diet with a special medical food that’s low in lysine, so they never experience the toxic metabolic build up that typically affects the brain between 6 months to 1 year of age.”

The technological advances came just 12 months too late to help Kayla. But, as her family is quick to point out, don’t for a second think the severe physical limitations Kayla endures due to her disease make hers a life not worth living. One look at her smiling face proves that, despite the challenges, Kayla has an unbreakable spirit and a happy heart.

Her mom, Susie, describes fun days filled with car rides in the family’s specially equipped van and Kayla coloring with her 19-year-old brother or watching her favorite cartoon, Sponge Bob Square Pants.

“When she’s not hurting, she wakes up with a smile and goes to bed a smile,” says Susie. “She can't talk, but she knows what’s going on. She verbalizes with eye gestures. She'll blink, and I can tell that she understands. She'll let you know what she wants.”

Her caregivers at N.C. Children’s Hospital—which span many pediatric specialties, including surgery, gastroenterology, orthopaedics, neurology, endocrinology and occupational and physical therapy—agree.

“Although she has such severe physical disabilities, Kayla is cognitively intact,” says Pendyal. “She communicates based on eye movements—and always that smile! Not only does she recognize us, she is an active participant in her care. She is a very special girl.”