It was an ordinary afternoon in the lunch room of a Rochester, New York, elementary school, and all Ryan wanted to do was eat an apple like his classmates.
Instead, the lunch room aide came over with a paring knife and cut the second-grader’s fruit into small pieces he could manage with his toothless mouth. No matter how subtle she tried to be, it didn’t prevent Ryan from being seen as “other,” different from the norm, by his peers.
“Hypophosphatasia” is a word most adults, let alone second-graders, have trouble pronouncing in their first few attempts. For Ryan, the soft-bone disorder’s complicated name has been the not-so-subtle soundtrack to his 16 years of life. Thanks to a treatment developed by researchers at Shriners Hospitals for Children — St. Louis, that life has become much more full and active.
When he was just 10 months old, Ryan awoke from a nap in his crib and gave his mom, Christine, a smile. Something was missing, she noticed: His first two baby teeth on his bottom gum were gone.
“The pediatrician said he must have knocked them out. I told him that there was nothing, no blood, that they had just disappeared,” she said.
A few months later, Christine touched Ryan’s two new top teeth. They were loose.
“At that point I knew something was wrong,” she said.
The pediatrician could find nothing amiss, so Christine took her boy to a pediatric dental specialist. That dentist was not so different from any other dentist or doctor in Rochester, a city of more than 200,000 with an impressive medical community. But unlike any other medical professional Christine has ever found near her hometown, this dentist knew that complicated medical term, hypophosphatasia, and knew of a researcher in Missouri who was investigating ways to treat it.
What is hypophosphatasia?
Michael Whyte, M.D., has been chasing after hypophosphatasia since 1976. Now one of the nation’s leading researchers on metabolic bone diseases with more than 400 publications to his name, Dr. Whyte had learned much about the disorder by the time Ryan came to him in September 2008, and was closing in on a promising treatment. Hypophosphatasia is a condition caused by low levels of the enzyme alkaline phosphatase. This leads to bones that, in the most severe cases, are so devoid of minerals and so soft that an X-ray can’t pick up the existence of a skeleton. In these cases, babies who don’t receive treatment die shortly after birth. In less severe cases, the first symptom is often early tooth loss because of the absence of cementum, the substance that anchors teeth in place.
For Ryan, tooth loss was just the start. As he advanced from toddler to young boy to pre-teen, he suffered 14 breaks, including multiple fractures to his right wrist. Once, it broke when he picked up his glass of milk while at the dinner table with his mom, his dad, Rick, and older brother, Kyle.
‘I was meant to be there’
But before all the broken bones, before the knee pain that made Ryan look like an 80-year-old man when he climbed the stairs, came a plane ride from New York to St. Louis.
“From the moment we got off the airplane and were picked up by the Shriners at the airport, it was like nothing we had ever or would ever experience,” she said. “They made us feel like we were coming home, that we were the top priority, that Ryan was important.”
The good feelings grew when they reached their destination.
“Walking into the hospital, it was a different feeling than going into a normal hospital,” she said.
As Ryan grew and became aware of the trips to Missouri for treatment, he began to feel what his mom had felt from the start.
“When I would go, in my heart, it felt like I was the only one being treated and the only one they wanted to work on,” he said. “It was like home. I was meant to be there.”
For a major medical advancement to happen, many factors have to come together – the curiosity of brilliant researchers, lots of time and even more money. Sometimes, though, it all comes down to good record-keeping.
Dr. Whyte and a team of researchers had been working on an enzyme replacement therapy for years. Clinical trials started just before Ryan’s first visit to Shriners Hospital. When it came time for the Food and Drug Administration to decide on approval, the panel hesitated; they wanted to see more proof that it actually worked.
Enter Donna Griffin, director of rehabilitation services at the St. Louis Shriners Hospital. For years, she and her team had been recording videos of their patients walking back and forth, back and forth, to show their gait. With decades of his work hanging in the balance, Dr. Whyte turned to Griffin, who quickly found a treasure of video clips of Dr. Whyte’s patients before and after treatment with the experimental enzyme therapy.
“The patients with hypophosphatasia who didn’t have the treatment, their gait remained wobbly,” Dr. Whyte said. “The recordings of the patients who did receive the treatment, it showed how much more stable they were.”
Seeing that evidence with their own eyes coupled with the mountains of research data, the FDA in 2015 approved Strensiq – the brand name for asfotase alfa. Ryan received his first injections less than two years later, just as the daily pain was becoming debilitating.
“As soon as I got the first shot, I felt 10 times stronger,” he said. “I felt like I was Superman all of a sudden.”
The child who once had to look out his front window and watch as his friends rode bikes, ran around and roughhoused as boys do, soon was able to leave the house and join them.
“It was like I had a totally different kid,” Christine said.
No looking back
Then came “The Decision.”
For many kids growing up in New York, the biggest game is not football or baseball. It’s lacrosse. As Ryan grew stronger, he pushed his mom to let him play. Christine turned to Gary Gottesman, M.D., a medical geneticist at the St. Louis Shriners Hospital and a colleague of Dr. Whyte’s.
“Ryan pleaded with Dr. Gottesman to let him play,” Christine said. “All of his scans were good. There was no reason not to let him play. So Dr. Gottesman said, ‘Let’s not keep him in a bubble. Let’s let him go out and live his life.’”
And so it was that Christine sat in the stands last year as Ryan took his place in goal for his high school lacrosse team.
“I was in tears,” she said. “Here’s this kid with a bone disease and all of a sudden he has these balls flying at him. But to see him be part of a team and be accepted as a normal kid and see him do what he never, ever thought he’d be able to do – I hope he will be this way forever and hope he never has to go back.”
Ryan has no intention of going back. Now with strong bones and a full set of his own adult teeth, he is eying a career as a firefighter – once unimaginable for a kid who needed his apple cut up for him by the lunch room aide. He continues to take three injections of Dr. Whyte’s discovery every week. When he reflects on his Shriners Hospital journey, he smiles and pauses to find the right words.
“My journey with Shriners Hospital has been amazing,” he said. “The treatment, the help, the heartwarming people – it is truly a great place.”