Andy's Story: A Rare Disease and a Save

Ten months after the nightmare began, 10 months after hanging on through a coma, continuous seizures, and prolonged anesthesia, Andy Reesey stared up at his parents from his hospital bed and began to speak. "Something is not right neurologically," he said.

Tears in their eyes, Reesey's parents e-mailed his physician, Simona Ferioli, MD, assistant professor of neurology in the University of Cincinnati College of Medicine, and a UC Health physician with the news. "He's back."

It was a victory not only for Reesey, a 38-year-old veterinary technician, but also for his team at the University of Cincinnati Neuroscience Institute. Reesey was "a save," a survivor whose case defied explanation, eluded diagnosis, and for months was impossible to resolve.

"It was one of the most dramatic cases we've seen," says Brandon Foreman, MD, a UC College of Medicine neurologist and epilepsy specialist at UC Health. "It is breathtaking to see someone do well when we were not sure he was going to make it. We knew that if there was a chance, we needed to give him a chance. And we said yes, we think there's a chance."

A sudden, unexplainable illness

Reesey was "hitting the ball out of the park when he got sick," says his father, Dick Reesey. "He was respected. He had his own house, and a dog, and great friends. And then, all of a sudden, bingo. It's hard to explain."

On an ordinary evening in late January 2015, Andy Reesey called his mother, Marie, and said that he was ill. He told her he had experienced "the worst headache of his life" in the middle of the night. He asked for cottage cheese, one of his favorite foods, and a thermometer. His temperature was 101.6.

"He ate some Christmas cookies that he still had and then crawled back in bed," his father recalls. "We said we'd check on him in the morning. We called and he answered the phone, but all we could hear was the dog walking around on the floor. We rushed over and found him conscious but unable to talk. We called the life squad."

Reesey was taken to a community hospital and then transferred to the Neuroscience Intensive Care Unit (NSICU) at the University of Cincinnati Medical Center. "He quickly slipped into a coma, and no one knew why," Foreman says. "That first week, it was hard to tell what was going on."

There were theories. Had he suffered a cardiac arrest and oxygen deprivation to the brain? Did he have an inflammatory brain disease? Or was he suffering seizures that weren't being picked up by the 24-hour electroencephalogram (EEG).

"It seemed like an inflammatory problem," Foreman says, "and then the seizures came on out of the blue. They didn't stop. What appeared to us to be encephalitis had become refractory status epilepticus."

A rare case of NORSE Syndrome

It now appeared that Andy had NORSE syndrome: new-onset refractory status epilepticus. In a classic presentation, a young individual falls ill and then, perhaps a week later, begins seizing uncontrollably. Mortality can reach up to 50 percent, and more than half of the cases remain a mystery despite extensive diagnostic testing. UC Health physicians, who last year collaborated in an international consortium that published the largest case study of NORSE patients ever,¹  see two to four cases of NORSE each year. "Andy's initial coma was atypical," Foreman says, "and many of our theories proved to be red herrings."

During the next six weeks, the neuroscience team performed every diagnostic and treatment "known to humankind," Foreman says. "We went over everything in the literature. We did all kinds of imaging studies. We put him on a pediatric ketogenic tube-feed diet. We tried some relatively new medications for epilepsy. We tried several rounds of anti-inflammatory treatments. And he needed deadly anesthetics to suppress the seizures. After going through several rounds of anesthesia, we knew we had to do something more permanent. Something radical."

Enter George Mandybur, MD, a UC neurosurgeon who specializes in epilepsy and movement disorders. Mandybur implanted electrodes on the right side of Andy's brain, enabling the epilepsy team to monitor the area where the seizures were originating. The team zeroed in on the right occipital lobe, which Mandybur then surgically removed.

Brain tissue samples, which showed no sign of oxygen deprivation, were shipped to the National Institutes of Health for study. "This is like a puzzle," says Andy's father, Dick Reesey. "I'd love to know the cause so some other family doesn't have to go through the same thing."

The surgery was a turning point for Reesey, but it was not the end of his sickness. He remained heavily drugged and did not respond to family, friends or caregivers. He was in a vegetative state.

But he was never alone. His parents were with him for several hours every single day, and his brother, Craig, visited five times a week.

Advanced, team-based neurocritical care

Meticulously, Ferioli cared for him. One by one the neurocritical care specialist peeled back the anti-convulsant medications, allowing Reesey to evolve gradually toward consciousness as he recovered at the Daniel Drake Center for Post-Acute Care.

"When Andy left our NSICU, his prognosis was uncertain," Ferioli says. "He was on a complex regimen of high-dose sedating seizure medications and remained comatose. We wanted to gradually wean him off to give him the best chance to wake up, but the risk of his going back into status epilepticus was very high. This is something that is not described in any textbook. There are no guidelines to follow.

"I discussed Andy's case many times with the UC neurocritical care faculty after his discharge. This is when being in a team of dedicated physicians – like the one I have the fortune to work with – makes a difference and allows us to push forward, even in the most challenging situations. It has been a tremendous privilege for our entire neurocritical care team to be part of Andy's recovery."

Finally, Reesey began to wake up. His parents brought in his dog, Betty, a Boston terrier boxer mix, to see him once a week. Reesey gained mobility in his arms and feet, began eating on his own and became increasingly talkative.

In late March Andy left Drake for the famed Rehabilitation Institute of Chicago (RIC), where he is continuing his recovery and receiving physical, occupational and speech therapy three hours a day. "Andy was able to eat regular food at Drake, but he has learned to feed himself at RIC," his father says. "He has made great strides at RIC but has a long way to go."

The Reesey family is grateful for the care Andy received from the doctors, nurses, therapists and technicians at UC Health. "When you have a family member who is sick, you find out that everybody is good," Dick Reesey says. "It was a tremendous experience for us. It makes you stronger, that's for sure. The doctors and nurses in the NSICU became like family. We were there a long time. Everybody at Drake, everybody at UC, has been great."