Uncovering the mystery: Toddler diagnosed with rare muscular disorder

2014-02-12 08:28:59 by Public Relations staff, as posted on the inside.akronchildrens.org blog.

Jack_2 -webIf anyone needs an example of resilience, they need to look no further than 2-year-old Jack Lee.

Jack arrived at the neonatal intensive care unit at Akron Children’s Hospital on Oct. 4, 2011 – 7 weeks premature and struggling to breathe.

While many premature infants experience breathing difficulties from undeveloped lungs, doctors grew concerned that his condition was much more serious after observing that he rarely moved inside his incubator.

“It looked like he was glued to the bed,” said his mother, Rebecca. “He blinked his eyes, but that was all.”

Doctors thought it could be a neurological issue. However, they wanted to wait until he grew out of his prematurity to run tests.

For the next 7 weeks, Rebecca and her husband, Paul, watched their son’s condition fluctuate – from Jack’s oxygen levels going up and him being able to breathe on his own, to his levels plummeting, causing him to cough and choke. Throughout this time, his MRIs came back clear and his vitals were normal.

Jack_1 -webAt 10 weeks – after a successful hernia surgery and an inserted gastrostomy tube (or G-tube) for stomach feeding – Jack was stable enough to go home just in time for Christmas.

Armed with medical equipment and the assurance of the NICU staff, Paul and Rebecca settled into a routine at home with their first child.

It was short-lived.

Jack was back at Akron Children’s on Dec. 30,  this time in the pediatric intensive care unit, after he had stopped breathing. It was the first of 3, multi-week pediatric ICU admissions he’d have throughout the next year.

The culprit? The common cold.

For some reason, Jack couldn’t clear his airway of secretions, which eventually obstructed his airway and caused his oxygen levels to drop.

Paul and Rebecca braced themselves for a future of PICU admissions.

But the tenacity of the medical staff at Akron Children’s Hospital turned their fortunes around.

Dr. Bruce Cohen, director of pediatric neurology, worked with the Lees to uncover the mystery surrounding Jack’s condition. After a year of testing, he was able to give Paul and Rebecca new hope – they found his diagnosis.

Jack had a rare muscular disorder called congenital myasthenia syndrome, which causes weakness in muscular systems throughout the body.

Not only did they find a diagnosis, but also a medicine that could treat it - one that had a 50/50 chance of success.

So in February 2013, all eyes were on Jack as Dr. Cohen administered the medication. Ten minutes later, the little boy who could barely move since the moment he was born rolled over in his hospital bed.

“What we felt – it was pure elation,” said Rebecca. “I had goose bumps, I had shivers, I was crying. We went from one extreme to another.”

2014-radiothon-logoThe next year was full of milestones. Through a medication regimen and physical, occupational, speech and pool therapies at Akron Children’s rehabilitative services, Jack is talking and even walking with the aid of a walker.

He hasn’t been admitted to the hospital since.

“Akron Children’s Hospital saved Jack’s life so many times, I’ve lost count,” said Paul. “It’s incredible to have that facility so close to us. We talk a lot about the critical care he got, but what’s cool is that the hospital is in it for the long haul. His therapies have allowed him to progress at the rate that he has. They’re not just there to keep him alive, but to help him actually live.”

Hear Jack’s story today at 2:30 p.m. during the 15th annual “Have a Heart, Do Your Part” Radiothon when it broadcasts live on 98.1 WKDD. 

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