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'A miracle': Mom's search for clues helps solve boy's mystery illness

At 13, Bobby Leithauser has been battling a mystery illness that turned out to be several maladies battering his body at once.
/ Source: NBC News

At 13, Bobby Leithauser is finally getting ready to go back to school after battling a mystery illness that turned out to be several maladies battering his body at once.

The process left him in agony and turned his mom into a detective who found the answers when many specialists couldn’t.

The problems started out of the blue: Growing up in Marco Island, Florida, Bobby was a happy, active child attending the gifted program at his school and playing lots of sports.

Bobby Leithauser before his illness.Courtesy Keri Leithauser

But when he was 9, he suddenly began experiencing a barrage of health troubles. It started with stomach pain that eventually became so severe it would make him double over and cry as soon as he started eating. Desperate to help, Bobby’s parents began to eliminate foods from his diet to see if he would feel better.

“We ended up where I think he was only eating blueberries and chicken. It was pretty drastic,” Tom Leithauser told TODAY as part of a three-day series, "Medical Mysteries," looking at people who have recovered from rare conditions.

Eventually, Bobby needed a feeding tube to stay nourished. Then, even more problems followed.

“He had headaches, tremors. He was unable to control his body temperature or regulate his blood pressure,” his mother Keri Leithauser said.

Doctors figured out Bobby had dysautonomia, a syndrome affecting the systems in the body that should be automatic, like digestion, temperature regulation and blood pressure. The once thriving boy now had to use a wheelchair to get around. He was losing his vision and was in constant agony with neck pain.

“It was really horrendous pain and I couldn't hold my head up for more than 10 minutes at a time,” Bobby recalled.

The once thriving boy now had to use a wheelchair to get around. He was losing his vision and was in constant agony with neck pain.Courtesy the Leithauser family

As the family went from doctor to doctor seeking help, they received another diagnosis: Bobby also had Ehlers-Danlos Syndrome, a disorder affecting the strength of his ligaments. But even this new finding didn't seem to explain all of his problems.

In a frantic search for answers, Bobby’s mom turned to the Internet for help. Keri researched the symptoms and found other parents who had children with similar problems. "I started putting the pieces of the puzzles together," she said.

“The whole time we were looking at stomach pain, never imagining that the problem could be in another part of his body, like the brain,” Bobby’s dad said.

The trail of clues finally led the family to Dr. Harold Rekate and the Cohen Children's Medical Center in New York. The neurosurgeon spotted what was wrong as soon has he saw scans of Bobby's skull and spine: a Chiari malformation, a rare condition that affects the cerebellum. (Find out more about Chiari malformation and its treatment at the Chiari Institute.)

“We see that the brain is distorted and it shouldn't be distorted,” Rekate said. “I knew that he could be helped by surgery. I knew that the chronic pain that he was in, that the inability to exercise could be helped, that we could change his life.”

It turned out the ligaments holding Bobby’s head onto his spine were too loose, so the skull and spine were not hooked together properly. The top bone in his spine was positioned at an angle, pushing into his brain.

“Because of that angle being very sharp, it was pushing on the front of the brain. And it was causing the brain to be squeezed, both from the front and back,” Rekate explained.

In December, Bobby underwent a 6-hour surgery that Rekate invented. During the procedure, the neurosurgeon realigned Bobby's skull with his spine and then screwed it in place.

Doctors expected Bobby's chronic pain and headaches to go away, but everyone was stunned by just how well the boy recovered. The problems associated with dysautonomia — the stomach troubles and light-headedness — improved as well. It’ll take time and research to find out whether those issues were connected to the compression of his brain stem, Rekate said.

Meanwhile, Bobby is savoring his new life.

“It felt unreal. I was so happy. I just couldn't believe it,” the teen said.

“All of a sudden he just started getting better and walking around we couldn't believe it,” his mom recalled. “We owe Dr. Rekate everything. I can't believe what he has done for our son and our family.”

“To me, it's a miracle. It really is a miracle,” Bobby’s dad said.

This case was especially challenging because it involved so many different kinds of symptoms, treated by different specialists, Rekate said. He estimated the combination of conditions only affects hundreds of Americans, a tiny percentage of the U.S. population.

Bobby’s mother says the lesson is to keep searching for answers, especially when your instincts tell you you’re not getting all the help you need. If she had never found Rekate, she believes, Bobby would not be where he is today.

Read more: After gaining 120 pounds in 1 year, rare diagnosis saves man's life

TODAY's Agnes Pawlowski contributed to this story