Jump Starting What’s Possible

Melissa Egan Kerr and Joe Kerr frequently encourage their 4-year-old son Max to do “regular kids’ stuff” despite his rare genetic disorder. But the Kerrs will tell you: There is no playbook when your child has Joubert Syndrome.

That’s why the family from Hellertown, Pennsylvania, is creating its own path to optimize Max’s abilities. Settling into the positive mindset of “what is possible” had a bumpy beginning, though.

The challenge of year one

When Max was a few weeks old, he had jaundice that would not resolve. During a physician visit, the pediatrician suspected a genetic difference; Max was not as strong as he should have been and had an odd breathing pattern. This set off a series of visits to specialists and a surgery to address a liver issue, all while the early stages of the COVID-19 pandemic loomed. In 2020, Max was referred to an early intervention program for delayed development, with few answers as to the root cause.

Finally, at 8 months old, Max underwent genetic and neurological testing, revealing his diagnosis: Joubert Syndrome, a rare genetic condition that impacts about one in 100,000 newborns. Joubert Syndrome is a brain malformation that results in the absence or underdevelopment of an area of the brain that controls balance and muscle coordination, including speech.

Discovering what is possible

As Melissa started researching Joubert Syndrome, she came across a video sharing the advances that a child with Joubert Syndrome made through Good Shepherd’s inpatient Jump Start Program. Seeing another family facing a similar challenge inspired Melissa and gave her hope that the Pediatrics team at Good Shepherd Rehabilitation could help Max.

“We knew of Good Shepherd’s great reputation and wanted Max to have in-person outpatient rehabilitation, so I made the call,” Melissa said. “With COVID in full swing, there were challenges. Max’s health was precarious, and we were still trying to understand the ways his diagnosis affected him.”

Chromosome abnormalities, such as Joubert Syndrome, are in the top-10 diagnoses at Good Shepherd Pediatrics, and the rehabilitation team of physicians, nurses and therapists are skilled and comfortable in treating complex children and guiding parents to learn their new path forward.

The family persevered through the pandemic. Melissa left her job to concentrate on Max’s health, and Max made progress.

With early intervention at home and physical therapy sessions over the next few years, Max’s mobility advanced with the assist of robotic gait training. Soon, he began walking with a walker, which Melissa said he did not care for at first. Max became quite proficient, though, using a manual wheelchair to get around.

Max was doing so well that it was time to accelerate his rehabilitation.

Jumping into the program

For four weeks in fall 2023, Max took part in the inpatient Jump Start Program at Good Shepherd Rehabilitation Hospital Emily Howatt Pliskatt Pediatric Unit.

Under the guidance of Kimberly Kuchinski, MD, MPH, medical director of pediatric medicine and rehabilitation, Max took part in a personalized “tune-up” plan focused on intense bursts of inpatient rehabilitation. The program was not starting over for Max but a continuation of the discovery and advancement of his abilities, thanks to the coordination of his outpatient and inpatient teams.

Melissa said the Jump Start Program was a big leap for Max’s progress. By the end of the first week of his inpatient stay at the Pediatric Unit, Max was agreeable to using the walker and eventually was racing around the unit’s halls with it. He even snuck out of his room alone to raid the snack area. Joe proudly recalled that Max was able to walk with his walker around the entire concourse at Coca-Cola Park in Allentown for the Suites N Treats trick-or-treat night with the Lehigh Valley IronPigs.

“A year ago, Max could not crawl, stand up himself or stand without support,” Melissa said. “He now can walk holding hands. We didn’t know if it could happen.”

Max has no intellectual disability and is very expressive, but he has limited ability to speak and is unable to form words. Good Shepherd Rehabilitation’s pediatric speech therapists taught him how to use an augmentative and alternative communication (AAC) device. Melissa called the AAC “huge progress” that opens up more of the world to him. She said they use the device as a family, helping Max gain confidence and grow his vocabulary.

Support and empowerment

After discharge from the Jump Start Program and continuing with outpatient pediatric rehabilitation, Max’s health is more stable. The goal is to keep supporting and empowering him to enhance his abilities.

His current outpatient therapy at Good Shepherd Rehabilitation includes aquatic therapy in the swimming pool, and a group setting for occupational therapy and speech therapy with another young patient, which helps keep Max engaged.

He continues under the care of Dr. Kuchinski and five physician specialists at Children’s Hospital of Philadelphia (CHOP), who monitor his kidney disease, liver disease, endocrine differences and neuromuscular deficiencies. There are a lot of health-care appointments to juggle; thankfully, Joe’s job provides the flexibility to take Max to them.

Melissa returned to work in a part-time role with the support of home health aides. In fact, one of Max’s aides is his grandmother. Melissa’s mom, Donna, worked in early child education and decided to become a certified aide for Max.

Donna takes Max to a playgroup once a week, which he truly enjoys. He attends a preschool through the local Intermediate Unit, where he receives early intervention physical therapy, occupational therapy and speech therapy. His progress will allow Max to attend a general education school next year. As for other fun, Melissa said Max has a great sense of humor and likes to “rough-house” with his older brother, Griffin, and just be a kid.

Embracing disability

“I didn’t know people with disabilities before our journey began with Max,” Melissa said. “I started reading books, listening to podcasts, and following disabled adults on social media. What I’ve learned from the disability community has shaped my vision for Max and our family.”

Melissa has become an advocate for people with disabilities and rare diseases. She completed a training program offered by the Pennsylvania Office of Child Development and Early Learning (OCDEL). She is a caregiver advocate with the EveryLife Foundation for Rare Diseases, which holds trainings and meetings with federal and state legislators during special observances like Rare Disease Week.

In the past year, Melissa attended the International Conference on Young Children with Disabilities as a family leader and spoke at two Pennsylvania State Interagency Coordinating Council meetings.

“My focus is on normalizing disability while also having high expectations for Max,” Melissa said. “That is why our family chose to think and act differently about what is possible for Max and other children with rare diseases. Good Shepherd Pediatrics is helping us and other families see what is possible.”

For more information about the pediatric and adult programs and services provided at Good Shepherd Rehabilitation, call 1.888.44.REHAB.