Rare autoimmune diseases in Children

Gordon Guest didn’t think too much of it when Joshua, then 3, fell a few times one summer afternoon near their home in Dryden, N.Y. Kids often get clumsy during a growth spurt or when they’re tired. He brought Josh home and put him to bed early. But when Josh woke up the next morning, his eyes were pointing different directions and he had no facial expression.

“He just looked like a different kid. He couldn’t swallow anything either, ” Gordon said.

Gordon and Christine rushed their son to their pediatrician who sent Josh to Elmira for an MRI. The MRI didn’t reveal anything obvious, like a tumor or bleeding, but he was losing more coordination by the minute, so an ambulance was dispatched from Golisano Children’s Hospital at the University of Rochester Medical Center.

Josh was rushed to the Pediatric Intensive Care Unit (PICU) because his difficulty walking had progressed with startling rapidity to slurring his speech and having trouble breathing. It was becoming increasingly clear to Gordon and Christine that Josh was not going to make it to his birthday party the following Saturday, and his condition was very serious.

Christine said Josh had always been very strong, that he could hold himself up on his father’s outstretched arms as if they were parallel bars. “To go from a kid who was that strong to a kid who couldn’t hold his head up was really scary.”

After Josh stopped breathing twice, Gordon and Christine, who had both been emergency medical technicians (EMTs) earlier in life, readily agreed to having Josh intubated and attached to a ventilator. They knew the risks – he could develop pneumonia or become ventilator-dependent and never able to breathe on his own again – but they also knew their little boy would die otherwise.

“Once he was sedated and we were just there with him on a respirator… it sunk in, ” Christine said. “You’re just helpless.”

But the Guests had a lot of support. Friends and family pitched in to take care of Josh’s big sister, Julia, who was 6 at the time. Gordon and Christine were invited to stay in the Ronald McDonald House within the Hospital, one floor above the PICU, so that when they could pry themselves from Josh’s bedside, they didn’t have to go far for some respite, a shower and a bite to eat. Gordon’s boss at Intertek, a product testing company, told him to do “whatever it takes” to get Josh well again.

Teams of neurologists, intensivists, nurses, fellows and residents visited Josh constantly, while Josh was kept sedated. On his birthday, Wendy Lane, coordinator of the Child Life program, brought Josh a bag full of presents, but he was so sick that his sister had to open them.

“It was still Joshua’s birthday – it didn’t matter that he was so sick, ” Wendy said. “He and his family needed to celebrate and have some normalcy at an extremely difficult time.”

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