Ryan Dant was one of only 40 babies in the U.S. born each year with a condition called Mucopolysacharidosis, or MPS-1, part of a family of genetic diseases in which the patient is missing an enzyme necessary for the body to function properly. The condition is nearly always fatal.
Ryan's parents, Mark and Jeanne Dant, were told they could do little more than wait for their boy to die. But the Dants were unwilling to accept that. So Mark Dant went to work.
Ryan was born in 1988. From what his parents could see, he was a healthy, active toddler. Mark was on the police force and Jeanne worked in the airline industry. Together, they were building a quiet, peaceful life in the suburbs of Dallas. In 1991, when Ryan turned 3, a physician noticed that his liver was abnormally large.
The doctor told the Dants that Ryan was sick and would probably die before the age of 10. He had mucopolysacharidosis-1, which means he was missing an enzyme that the body needs to break down certain waste materials. Over time, buildup of the waste material damages organs like the heart, stiffens the joints, affects breathing and stunts growth. In some cases, it can lead to severe brain damage and mental retardation.
There wasn't much research on the disease, because so few people got it. The Dants decided to look for a cure themselves. The Dants started the Ryan Foundation to help fund a cure. It became a community project with all their neighbors joining the fight. Their first fundraiser was a bakesale. They netted $342.
Meanwhile, Ryan's health continued to decline. His headaches became so excruciating, he would vomit and pass out. His fingers started to curl. When Ryans hands got too stiff, it affected his ability to play his favorite sport - baseball. To keep him in the game, his father attached velcro to his bat. Eventually, even that didnt work, and Ryan had to quit the team.
Mark still worked full time as both a cop and as Ryans dad. Every day after walking the beat, he changed his uniform to knock on doors and shake hands. Over three years, the Ryan Foundation graduated from bake sales to $100,000 golf tournaments with Ryan as the poster child.
Says Mark: "Every time I walked into a corporation or a company or a store, I would show them a picture of Ryan and I would say, Im here not as a police officer, Im here as a dad. And here is my cause. And Id show them a picture. If I went to a hundred places, 99 would still say no, but one would say yes, and that was a big day."
In 1995, Mark met a young scientist at UCLA named Emil Kakkis. Kakkis was one of the few researchers in the world studying MPS1 - and his meeting with Mark couldnt have come at a better time. He was about to stop research for lack of money.
Kakkis had a sense that this complicated disease had a fairly simple solution: Create a synthetic version of the enzyme thats missing in kids who have MPS1.
The scince was solid. But to take his synthetic enzyme from the lab to the bedside, Kakkis needed money. Over the next few years, the Ryan Foundation raised a million dollars and gave it all to Emil Kakkis.
Within three years, Kakkis had attracted additional funding from a small biotech firm and had gotten FDA approval for a clinical trial of his synthetic enzyme treatment. Ten kids were chosen for the trial at Harbor/UCLA hospital in California. Ryan was one of them.
Two months before Ryans 10th birthday, Kakkis and the Dants administered the first dose of Ryans enzyme treatment. Week by week, Ryans life improved. Now at age 13, Ryan is back playing baseball.
"It feels like I can do everything that I ever wanted to, like ride my bike every day or play baseball, basketball, you name it, I can do it," he says.
All 10 kids showed improvement. Three years after that first trial, Ryan still receives the enzyme treatment once a week at a Dallas hospital
The drug still hasnt been approved for general use. The FDA is requiring a second clinical trial with a larger sample - one with 42 kids worldwide.
The early success of Kakkiss enzyme treatment has encouraged other pharmaceutical companies to invest in these rare, genetic diseases. Right now there are a number of companies working on potential treatments for at least four other MPS-related disorders.
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