CANTON — It started at Karson "K.J." Ross' 9-month-old pediatric well-baby visit.
Pretty routine stuff for a family that's had two older kids go through those types of regular checkups. Log the baby's height and weight. Check ears, eyes and throat. Administer vaccines.
"But they said it felt like his spleen was enlarged," recalled Ashley Ross, K.J.'s mom.
The cause, though, was puzzling.
After that appointment in the fall of 2017 came an ultrasound, followed by test after test at Akron Children's Hospital. Sixty-seven in all, by the family's count. Along the way, doctors ruled out cancer, but began to suspect a rare hereditary disease, Niemann-Pick.
"We prayed that it wasn't," Ross said.
She and her husband, Matt, who live in southwest Canton, Googled everything there was to Google about Niemann-Pick.
It wasn't good. There's no cure. And one variety can kill a child by age 4.
The official word came on Aug. 22, 2018.
It was Niemann-Pick type C. It's a genetic mutation that causes cholesterol and fats to build up inside a child's liver, spleen or lungs — and ultimately affects the brain, too. The disease is sometimes referred to as "childhood Alzheimer's."
Medical research has found only 500 cases diagnosed worldwide each year.
Symptoms include learning delay, lack of muscle strength, loss of coordination. The disease causes trouble in a child's ability to walk and talk and can include seizures and jerking muscles and a sudden loss of muscle tone.
To this day, 2-year-old K.J.'s vocabulary is limited to "dad."
He's barely over 2 feet and weighs 21 pounds.
After the diagnosis, Ashley Ross wasn't about to give up hope. Using social media, she connected with parents across the country in a similar situation. One told her to contact Dr. Elizabeth M. Berry-Kravis, a pediatric neurologist at Rush University Medical Center in Chicago.
"I emailed her, and she got right back to me," Ross said.
Berry-Kravis had been administering an experimental drug VTS-270, from Mallinckrodt Pharmaceuticals, in Niemann-Pick type C patients. The drug is given through a spinal tap.
Studies have shown the drug can stabilize the disease for extended periods, according to an article published last year in "Pediatric Neurology" and co-authored by Berry-Kravis.
In late September, K.J. went to Chicago for his first treatment. He and his parents make the flight every two weeks, and will continue to do that for the foreseeable future.
Ultimately, the Ross family would like to see VTS-270 earn U.S. Food and Drug Administration approval, which could make it available more locally, or for another treatment to develop.
The nonprofit Patient AirLift Services provides the free flights. And Ashley and Matt Ross recently secured federal Social Security benefits to support K.J.
His siblings, Matthew Jr., a first-grader at Our Lady of Peace Catholic School, and Jazminn, a fifth-grader at the same school, often call their little brother "Beanie."
It's a nickname that seemed to fit and they've stuck with it.
Parishioners at Christ the Servant Parish at Our Lady of Peace Church, which operates the school, have also chipped in with donations to help the family.
"Everyone always wants to know 'how is K.J. doing?' " said Monsignor Lewis F. Gaetano. "We've all tried to do what we can … the mission is outside of these four walls."