“Always positive. He loves to joke around. He’s an inspiration to me.” -Dr. Victoria Kuester, orthopaedic surgeon

“A hilarious and witty teen who has mad Mortal Kombat skills. He is someone who can easily make you laugh with his creative jokes. At the root of it all, a young man who has a huge heart, loves his family and always tries to make your day brighter.” -Shannon McWilliams, child life specialist

“He’s an incredibly strong kid and he inspires me to work harder to help others like him.” -Dr. Christopher Henry, resident physician

“Unstoppable, invincible, comedian, always smiling and makes everyone around him smile.” -Heather Fisk, mom

Diagnosing and caring for rare genetic conditions at CHoR

With descriptions like these, you’d never imagine the trials 14-year-old Jonathan Fisk has faced and conquered.

Jonathan was diagnosed at birth with cleidocranial dysplasia, a rare genetic condition affecting the bones. The condition has no direct effect on the brain’s function or a person’s cognitive abilities, but it can impact the skull, which is why his neurosurgeon, Dr. Ann Ritter, has been involved in Jonathan’s care from the beginning.

Then, in 2019, Jonathan made several trips to the emergency room for dizziness that progressed to coughing spells, inability to swallow and incoordination. His attending physician referred him to gastroenterology and, once again, neurology. This time he worked in large part with Dr. Christopher Henry, one of our outstanding neurology residents.

“The entire neuro team deserves a gold medal for what they have done for us thus far in Jonathan's journey. From Dr. Henry's relentless search for answers to Dr. Ritter being there from the beginning of Jonathan’s life and performing a small biopsy recently,” said Jonathan’s mom, Heather.

Following a series of genetic testing, imaging procedures and appointments, it was determined in 2020 that another genetic condition, juvenile Alexander disease, was causing Jonathan’s most recent symptoms. This condition impacts the white matter of the central nervous system, resulting in difficulty with speech, swallowing and coordination.

Pediatric specialty and support teams for every need

Throughout all these challenges and diagnoses, Jonathan was also developing severe kyphoscoliosis, or curvature of the spine. He spent four weeks in the hospital in halo gravity traction with weights pulling through his head while his connective tissue stretched and the kyphoscoliosis slowly improved. This prepared him for spinal fusion surgery to keep his spine curvature from worsening.

“It’s important that Jonathan came to CHoR for this multi-specialty complex care,” said his orthopaedic surgeon, Dr. Kuester. “We needed to involve multiple physicians in his care, in addition to communicating with one of his specialists at Children’s Hospital of Philadelphia for his rare disorder.”

In his time at CHoR, Jonathan has received care from our specialists in neurology, neurosurgery, gastroenterology, genetics, speech therapy, physical medicine and rehabilitation, orthopaedics, imaging, ENT, endocrinology and general pediatrics.

Along with the best medical care for kids, children’s hospitals have all the support services they need. Complex procedures and extended hospital stays can become overwhelming, even for someone as optimistic as Jonathan.

“His nurses, particularly Addy, Kelsey, Sid, Bailey, McKenna and Ashton, always go above and beyond to ensure Jonathan’s hospital stays are as comfortable as possible,” said Heather.

Child life is an essential part of care in a children’s hospital too, helping kids and families cope with the medical environment, understand their diagnoses and prepare for procedures.

“One of the first activities we did was decorate his room and make a countdown until his surgery. I made him a huge Batman-themed calendar so he could visualize how many days were left in the halo traction until the big surgery and printed off some Batman décor. This made his room feel cozier,” said Jonathan’s primary child life specialist, Shannon McWilliams.

Shannon would routinely meet with Jonathan in the evenings to hear about his day, learn all about his brother and dogs, and watch him “destroy his dad in Mortal Kombat.”

“These interactions allowed Jonathan, his family and me to build trust and familiarity with each other. This trust is so crucial in the hospital environment,” Shannon added. “During one of Jonathan’s hardest days I remained by his side. Our rapport, trust and time spent with each other allowed me to know what Jonathan’s coping skills were, understand what helped his parents, and easily advocate for Jonathan’s needs.”

Jonathan’s family also appreciated the support of the RMHC teams throughout their inpatient stays.

“All of the RMHC staff and volunteers always having coffee, activities and toys for him, a shoulder to cry on on those really bad days, making sure parents are fed and laundry is clean...the little things matter the most,” said Heather.

Life’s little – and big – moments are extra special after all Jonathan has been through

All Jonathan’s time in the hospital has helped ensure he can have plenty of joy outside the hospital too.

“I love spending time with my mom, dad and brother Zach,” said Jonathan. “And spending time with friends.”

He also enjoys playing Xbox, watching YouTube, drawing and painting. But his success isn’t completely thanks to his CHoR team. Jonathan’s positive attitude, intrinsic drive to achieve and family support are superb.

“Jonathan and his family recognized this journey would not be easy but are willing to work together for his good to help him through difficult things,” said Dr. Kuester. “They were champs at helping him through halo traction and although, even after the fusion, it has been difficult for Jonathan due to his underlying diagnosis and other issues, he and his parents continue to work towards maximizing what he can do.”

Jonathan is proving he can do a lot. Most recently, his family took an unforgettable trip to Disney World.

“We had THE BEST week since Jonathan's diagnosis. Magic Kingdom was his favorite park and meeting all the characters was so very special,” added Mom.

While we prefer to see him enjoying life outside the hospital, Jonathan knows we’re here when he needs us!

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