A man told as a child that he'd be dead by age 10 is thriving in his mid-thirties — thanks to one doctor and his efforts to find a treatment for a rare disease. Now, the pair is sharing their journey and how it led to the development of a life-changing drug.
In 1991, Ryan Dant was a happy and healthy 3-year-old who loved baseball and running around outside. His parents, Mark and Jeanne Dant, had many hopes and dreams for their son. But everything changed when a routine checkup led to genetic testing, which revealed that Ryan had a rare and life-threatening genetic condition called mucopolysaccharidosis type I or MPS I.
“We were told the Ryan would probably pass away by the time he was 10 or 12 ... so for a year we did nothing but literally lay on the floor next to Ryan’s bed at night and listen to him sleep,” Mark Dant told TODAY’s Sheinelle Jones in an interview aired Tuesday.
MPS I is caused by genetic changes in the IDUA gene, which can lead to reduced levels or a complete lack of the IDUA enzyme, according to the National Institutes of Health Genetic and Rare Diseases Information Center. Without the digestive enzyme that helps break down large sugars, large sugar molecules can accumulate and cause organs or other tissues to become enlarged, which can lead to serious medical problems, according to the NIH.
There is no known cure, and according to recent estimates, less than 5,000 people in the U.S. have MPS 1, TODAY reported.
As Ryan Dant's symptoms progressed, his "stomach became very large, his liver and spleen were growing to almost two and a half size normal, his hands started to stiffen up, he would lose balance often, would have really debilitating headaches," said Mark Dant.
"Things were changing physically and mentally for Ryan, too, because he began to realize that perhaps he wasn’t like the other kids who could run and play," he added.
After one year watching their son suffer, the Dants decided to take action. Mark Dant told TODAY that, first, he read a library book about launching a nonprofit and then began fundraising.
What started with a bake sale that raised $342 led to the creation of The Ryan Foundation. And after many more events, including galas, golf tournaments and raffles, the family has raised hundreds thousands of dollars to help fund any MPS I research that could save their son's life.
As Ryan's symptoms worsened, his family searched tirelessly for researchers and finally found a physician-scientist studying MPS 1 and enzyme replacement therapy at a laboratory at University of California, Los Angeles: Dr. Emil Kakkis.
But Kakkis and his team had been struggling with their research due to a lack of funding. "When something is that rare, it’s hard to get enough research dollars to do the work," Kakkis told TODAY. "We were running out of money, so I was at the point of giving up."
In 1995, the Dant family flew from Texas to Los Angeles to meet Kakkis, kicking off the first chapter of a long collaboration to expand MPS I research. "Meeting Ryan and Mark and Jeanne gave me an inspiration as to what this was really about. It’s not a science project. It’s a human project to save Ryan," Kakkis recalled.
The Ryan Foundation stepped in to keep Kakkis' team's work afloat, and in 1997 a biotech company provided funding that allowed Kakkis to resume his clinical trials. Ryan Dant became one of 10 child participants. "On Feb. 13, 1998, Dr. Kakkis, Jeanne and I pushed the button to change Ryan’s life forever," Mark Dant said.
Fast-forward to 2003, and the drug used in the trials — which would later be called aldurazyme — was approved by the U.S. Food and Drug Administration to treat most individuals with MPS I.
"Getting an FDA-approved therapy is incredibly challenging, especially in a rare disease where there’s no experience and no method or approach to treating the disease and no knowledge of how to measure the disease," said Kakkis.
"But we had great results in the first 10 patients, and ... after only a few weeks, we could see their livers and spleens were shrinking, and they started feeling better," he added.
Not only did Ryan Dant beat the 10-year prediction given to him as a toddler, but he also went on to graduate from high school and college, get a job and get married. Today, Ryan Dant is 34 years old.
"There are still some medical challenges, but I’m living life to the fullest. I don’t want to have this disease hold me back from accomplishing anything," Ryan Dant told TODAY.
Although there's still no cure for MPS I and much more research to be done, the development of aldurazyme has changed lives. Kakkis said he credits the work of many scientists determined to make the research, clinical trials and FDA approval happen.
"I can’t imagine doing anything more in the future than just saving more Ryans out there," said Kakkis, who documented the journey and research in a book titled “Saving Ryan.”
The Dant family have remained close to Kakkis, who said he's been there for all of Ryan’s big events. “Without Dr. Kakkis, I wouldn’t be alive,” said Ryan Dant.