At first glance, Luke Creedon’s spirited personality and charisma make him appear like every other five-year-old boy. However, this sweet blue-eyed preschooler is one of 30 million people in the United States struggling with a rare, genetic disease that has unfortunately made hospital stays and surgeries a regular occurrence for him.
While 30 million people sounds like a startling statistic—collectively larger than AIDS and cancer communities combined—the range of 7,000+ known rare genetic diseases have relatively small patient populations, making knowledge and treatment much more difficult.
Soon after Luke was born, his family began noticing that he wasn’t putting on much weight. As a nurse, Luke’s mom, Janis was obviously concerned. At six-months, Luke was just over 13 pounds—exhibiting very little weight gain from his healthy 7.9 pound weight at birth.
“He wasn’t putting on weight or even holding his head up,” Janis said. “After being referred to a neurologist, we discovered that he wasn’t gaining weight because he was aspirating the whole time. He just didn’t have the energy and it literally required too many calories to make the exertion to eat, so he stopped thriving.”
They soon learned that the slow development and failure to thrive in their precious baby was due to a rare genetic condition—so rare, in fact, that doctors still have no diagnosis for it.
“When the pediatrician first referred us to a geneticist, I felt like I was hit by a Mack Truck,” Janis recalled. “Unlike testing for lead or other common diseases, genetic testing for rare diseases is virtually uncharted territory.”
For Luke, it has been a long road. He has spent most of his young life in and out of Boston Children's Hospital where physicians have run numerous tests, scans, and genotyping. Yet amidst all the chaos of multiple doctor visits and tests, this strong Brockton family is keenly aware of the need to make their little preschooler’s childhood as normal as possible.
“Luke’s cardiac problems associated with his condition make him very weak and hypermobile having virtually no core muscle strength, allowing falls to occur very easily,” Janis said. “I realized a couple of years ago we needed more rehabilitation therapy than early intervention and school could offer, and that’s when I found South Shore Hospital’s amazing outpatient program.”
South Shore Hospital’s Outpatient Pediatric Rehabilitation Program includes physical, occupational and speech therapies provided by pediatric therapists. The program offers comprehensive evaluations and treatments for infants, children and adolescents from birth to 17 years of age.
Occupational Therapist, Crystal Cote of South Shore Hospital’s outpatient pediatric rehabilitation program has been working with Luke regularly since he turned three. Though there is no name or diagnosis for Luke’s rare disease, Crystal and the rehabilitation team made a care plan based on his symptoms. After a thorough evaluation of his strengths and weaknesses and keeping attainable goals at the helm—Crystal has helped Luke make amazing strides.
“I’ve enjoyed working with Luke and seeing his progress. Occupational therapy has been used for sensory processing, strength and coordination building, while also helping to improve his fine motor and visual motor development,” Crystal said. “My goal is to continue to work with him on activities of daily living, so he can have increased independence.”
Luke’s resilience and determination in the face of so much adversity at his young age is nothing short of miraculous. In 2015 alone, Luke endured countless surgeries including open heart surgery, and tracheal intubation to enlarge his airway.
“I’m amazed at Luke’s progress in physical and occupational therapy, especially after his heart surgery,” Janis said. “He has amazing energy and strength and I can’t thank the rehab program enough.”
“Early initiation of the rehabilitation process can improve the therapeutic effects and the overall outcome of the treatment,” Crystal said. “I choose equipment and exercises that help with building strength and coordination for more independence in childhood occupations,” Crystal said. “We identified the Creedon family’s needs and realizing the available goals of rehabilitation for Luke, we ultimately started building a sense of safety for the family, while enhancing their trust in the rehabilitation process.”
Janis and her supportive husband, Seth, both admit they truly appreciate things differently through this journey. Luke continues to work each week on orthopedic strength training to reduce falls and increase core strength.
“We feel blessed that Luke has come so far in this process to be able to attend preschool, play with his older sister, Cecilia and simply enjoy life,” Janis said.
South Shore Hospital’s Outpatient Pediatric Rehabilitation Program has the latest equipment, including suspended equipment and a Lite Gait™ training system. Services are offered in two dedicated pediatric treatment spaces and pool therapy may be offered to augment your child’s land-based program.