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Treacher Collins Syndrome: Makayla's Story

Ask 9-year-old Makayla Hainline’s mother, Angie, to describe her daughter in one word, and there’s no hesitation. “Fearless,” Angie said. “She’s fearless, unless it involves a spider.” Makayla scrunches her face up to add to the drama. “I hate spiders!”

Born with a rare syndrome called Treacher Collins, a genetic condition that affects the development of the ears, eyes, cheekbones and chin, Makayla is fearless indeed.

She’s already had four surgeries to extend her jawline and improve her breathing.  Other complications for the one in 50,000 individuals affected by Treacher Collins can include problems seeing, cleft palate and hearing loss, but life expectancy and intelligence are normal.

When Makayla was born, doctors in her Kansas hometown weren’t sure what she had or how to treat it. About two weeks after her parents took her home from the hospital, her oxygen level dropped, and she developed pneumonia.

“We ended up at KU Medical Center,” Angie said. “They called Children’s Mercy and transferred Makayla here.” At Children’s Mercy, doctors diagnosed her with Treacher Collins syndrome. 

“Makayla’s lower jaw was so small, and her tongue was set so far back that it was blocking her airway,” explained Jeffrey Goldstein, MD, Division Chief, Plastic and Reconstructive Surgery; Director of the Children's Mercy Multidisciplinary Craniofacial Center.

To correct the problem, Makayla had her first surgery at only 2 months old. Called a mandibular distraction, the goal of the surgery was to increase the size of the lower jaw and elongate it forward. Since the tongue sits on the lower jaw, the surgery also moved Makayla's tongue forward so it wouldn't block the airway in the back of her throat.

Makayla’s mom said she did well after those first surgeries, routinely returning to Children’s Mercy to be monitored by the plastic surgery team. But by the time she was about 4 years old, she began having difficulty breathing again, especially when sleeping. 

A sleep study revealed she stopped breathing as many as 50 times an hour. “That’s when we made the plan to do another jaw extension,” Angie said. 

That was in 2013, and since her surgery, she hasn’t had any breathing problems, returning to Children’s Mercy annually for check-ups to be certain she’s growing and developing as expected.

Now a new service called the JAWS Clinic, short for Jaw, Air Way and Sleep, makes it more convenient for patients like Makayla to see all the specialists she needs at one appointment. In addition to coordinating the services of medical professionals, the JAWS Clinic provides facility resources, including the Sleep Lab at Children’s Mercy Hospital Kansas and state-of-the-art 3-D imaging equipment.

“Children with conditions like Makayla’s require a team approach to care,” Dr. Goldstein said. In addition to plastic surgery, Makayla’s care also involves orthodontics, pulmonary/sleep medicine, ear, nose and throat specialists and a neurotologist. These specialists each bring complimentary expertise, helping to ensure that all aspects of her airway have been evaluated, and all potential treatments are considered.

As Makayla reaches adolescence, her plan of care includes surgeries to build up her eyelids and cheeks, orthodontics to address some problems with her teeth, and possibly a bone-anchored hearing aid, which conducts sound through the skull for patients with conductive hearing loss. 

Through this process, she will continue to need monitoring of her sleep-breathing with sleep studies every few years, and could need other surgical interventions for her airway, provided by an ear, nose and throat specialist.

“Through the JAWS Clinic, we can develop a comprehensive plan of care together and address each issue in a coordinated fashion,” Dr. Goldstein said. “Nothing gets missed, and that’s important when dealing with such complex conditions.”

For Makayla, what matters most is that she’s an active third-grader who loves art, gymnastics, playing with her older sister, Mariah, and Dr. Goldstein.

“I like all the doctors at Children’s Mercy,” Makayla said, “but Dr. Goldstein is my favorite!”

Makayla’s mom, Angie, agreed. “We got really lucky when we were sent to Children’s Mercy. They listen to my concerns and take me seriously. I have full trust that they’re doing what’s best for Makayla.”