Living with Rett syndrome
Angie Cunningham will readily admit that having a child diagnosed with Rett syndrome makes life a bit more complex. This rare neurodevelopmental disorder begins to show its effects in infancy or early childhood, and is seen almost exclusively in females.
“Quinn never met her developmental milestones,” Angie said. “It was a big deal for her to roll over, and she had problems sitting up.”
Eventually, Quinn lost the ability to use her hands, and though she began to develop language skills, saying mama, dada and bubba, those soon began to slip away, too.
At about 15 months old, DNA testing confirmed that Quinn has the genetic mutation responsible for Rett syndrome. The mutation results in a shortage or absence of a normal protein needed to regulate or direct other genes which affect or control the normal development of select regions of the brain.
In addition to problems with hand movements and communication, most children diagnosed with Rett syndrome experience respiratory issues, feeding problems/constipation, anxiety and epilepsy/seizures. Most of these children require help with every aspect of daily living.
Beacon Program cares for kids with complex health problems
Quinn is no exception to that rule. She is non-verbal, requires a wheelchair and has a feeding tube. By age 3, her care became increasingly complicated. That’s when the family’s pediatrician referred her to the Children’s Mercy Beacon Program.
The program cares for children with complex or systemic medical problems. Providers coordinate complex care for hundreds of children from birth to age 21 diagnosed with medical complexities, and their healthy siblings, all in a multidisciplinary setting. The goal is to reduce hospitalizations and help patients live their lives to the fullest.
Emily Goodwin, MD, Beacon Program physician, cares for Quinn and her 10-year-old brother, Ayden, who is healthy.
“We were very excited to learn about the Beacon Program,” Angie said. “Dr. Goodwin is amazing!” One of the first things she did was help stabilize Quinn’s respiratory condition.
“Quinn was hospitalized 16 times in 2015 for respiratory problems and infections,” Angie said. “But with Dr. Goodwin’s help, we haven’t had any recent hospitalizations for a respiratory diagnosis.”
Quinn also has experienced severe constipation, another common problem for Rett syndrome patients. To help with that, Dr. Goodwin referred her to John Rosen, MD, a pediatric gastroenterologist at Children’s Mercy.
“Dr. Rosen recommended a cecostomy for Quinn, and it’s worked wonderfully,” Angie said. A cecostomy is a thin tube inserted in the first part of the large bowel and used to administer an enema to quickly and completely empty the large intestines.
Best doctors in our back pocket
In the three years since Quinn first came to see Dr. Goodwin at the Beacon Program, her health has improved tremendously. Ayden has benefited from routine check-ups with the team, and Angie appreciates the multidisciplinary approach the program takes, making the specialists and services Quinn and Ayden need readily available.
“The staff at Beacon are great with organizing the continuation of care to all Children's Mercy clinics that go along with Quinn's diagnosis,” said Angie. “Our family also appreciates everything that comes along with being a patient of the Beacon Clinic.” The Beacon Clinic has its own nurse practitioners, social workers, pharmacist, dieticians and clinical service coordinators to help with whatever concerns the patient has.
“Quinn and Ayden see Dr. Goodwin every six months, but we check in with the clinic often, and she is always easily accessible,” Angie said. “We think of the Beacon team as an extended part of our family,” Angie added.
And though Quinn has many physical challenges, the Cunninghams say she is just like any other 8-year-old girl. She loves being outdoors, swimming, vacations, playing with her big brother, movies, and her family and friends!
“Quinn goes everywhere with our family. She enjoys long car and plane rides for vacations and enjoys watching all her brother’s ball games,” Angie added, “but with her medical condition, we know that can change at a moment’s notice.
“It’s a comfort to know the Beacon team is just a phone call away, and that we have the best doctors right in our back pocket when we need them.”