Jack and Maryann Lee inspire their family, friends and health care team.
Paul and Becky Lee’s son, Jack, entered the world 8 weeks early. It wasn’t apparent until the next day that something was wrong, other than his prematurity. Jack didn’t move, and doctors suspected a neurological condition.
Jack spent 10 weeks in the Akron Children’s Neonatal Intensive Care Unit (NICU) and then another 15 weeks in the Pediatric Intensive Care Unit. He couldn’t move, eat or smile – but Physical Therapist Kate Patton gave Jack’s family hope. “What I noticed immediately is that Jack was 100% aware of everything going on and engaged with toys and caregivers,” she said. “He had little control of even his facial muscles, so he could not respond with facial expressions. By communicating with his eyes and little wiggles of his fingers, he showed me he understood and hungered for age-appropriate play opportunities and exploration.”
Dr. Bruce Cohen, pediatric neurologist and director of the Akron Children’s NeuroDevelopmental Science Center, met the Lee family after Jack had been in the hospital just short of 80 days. “Many doctors saw Jack, and Neurology had been consulted,” Dr. Cohen shared. “We just couldn’t put our finger on what condition Jack had.”
A diagnosis
New technology called “whole exome sequencing” became available when Jack was around a year old. Until that time, “If you knew what diagnosis you were looking for, a focused genetic test could help,” Dr. Cohen said. “We started looking for that needle, one test at a time, but it felt like we were looking for a needle in a haystack. The whole exome test was designed to search through the entire haystack.”
Dr. Cohen found the proverbial needle, as the test revealed Jack had an ultrarare disorder known as congenital myasthenia syndrome (CMS). “We were grateful for a diagnosis after 18 months of uncertainty,” Jack’s mom, Becky, shared. “But it was extremely scary to learn our son had a rare genetic condition.”
The Lees learned Jack’s type of CMS might respond to medicine called “pyridostigmine.” It could help him move by keeping the neurotransmitter – a chemical released by the nerve that impacts the muscle – more active than it would be otherwise.
Dr. Cohen and team prepared a lower-dose test to reduce Jack’s risk of a bad reaction. “Jack could breathe and open his eyes, but he couldn’t move,” Dr. Cohen recalled. “A few minutes after giving him the test dose, he nearly rolled off the exam table! Everyone started crying; we knew we struck gold. Getting to be part of that experience was among the best days of my career.”
Once Jack started getting the medicine every four hours and he could move, he needed to catch up on physical skills. “We knew Jack was in there the whole time,” Becky said. “His brain sent the right signals, but his body couldn’t understand them.”
Jack had day rehab for 2 months – including physical, occupational and speech therapy – and continued regularly scheduled therapy appointments after that. He started reading at age 3 and learned to walk with a walker at age 4.
Jack got some on-air time with KDD’s Keith Kennedy during the 2024 “Have a Heart, Do Your Part” radiothon.
Maryann joins Jack
Paul and Becky discussed having another child. They wanted to give Jack a sibling, but they knew that decision included risk. “Doctors told us another child would have a 25% chance of having CMS,” Becky said. “We got pregnant, and in-utero testing revealed the baby also had CMS. It was devastating news.”
Doctors monitored Becky’s pregnancy closely. Jack’s sister, Maryann, got her first dose of pyridostigmine when she was just 5 hours old. “She didn’t have weakness like Jack because she got the medicine right away,” Dr. Cohen said.
Maryann had surgery to insert a feeding tube and repair a deformity in her diaphragm. “She needed physical, occupational and speech therapy in the beginning – plus she had at-home exercises to do,” Becky said. “Now, she just needs check-ins with the therapists every 3-6 months to ensure everything is going OK.”
Maryann is a 2025 Children’s Miracle Network Champion and has her own trading card.
A thriving family
Jack is now in seventh grade. He excels at math and enjoys Mario video games. Maryann is in second grade; she loves to read books and is a Girl Scout.
Both kids still get medication every four hours, and Dr. Cohen sees them 2-4 times a year. He adjusts the dosage when they’re going through growth spurts because they need more if they’re gaining weight. They may get a longer-acting form of the medicine when they’re done growing, so they will need fewer daily doses.
The Lee family wants to give others hope. They’ve partnered with the Akron Children’s Foundation for years, sharing their story at “Have a Heart, Do Your Part” radiothons and dance marathons to ignite passion for raising funds for Akron Children’s. “Looking back, we had scary moments,” Becky shared. “It feels like life just stops, but we tried not to focus on what we didn’t have. We focused on good things, even the smallest bit of progress.”
For the Lee family, 2024 highlights included hiking in the Appalachian Mountains.
Jack and Maryann’s story inspires their caregivers, too. “The Lee family’s 2024 Christmas card showed a picture of them hiking the Appalachian Mountains,” Kate said. “Jack’s determination, his family’s unwavering support and expert care from Akron Children’s professionals brought him from immobile in the PICU to hiking in the Appalachians. They’re an incredible family.”
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