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This is the story of a Texas policeman and his son Ryan,
who was born with a rare genetic disease called MPS I. Patients with this
disease lack a critical enzyme needed to break down sugar. Without this
enzyme, the sugar molecules build up and hurt the cells, get stuck in
the joints, and harm the internal organs. This disease is so rare that
only a few thousand children have it around the world.
It is also the story of an amazing scientist named Dr. Emil Kakkis, a
new postdoctoral fellow at the Harbor UCLA Medical Center, whose mission
it was to make the enzyme missing in MPS I patients and develop a treatment.
After learning the terrible fate predicted for Ryan, his parents became educated about MPS I. Instead of deciding to accept Ryan’s predetermined genetic fate, they became obsessed with doing something about it. But by first grade, Ryan was clearly very sick and slowly dying.
Dr. Kakkis managed to make the enzyme that is missing in MPS I patients in his laboratory and he was able to show that the enzyme helped to break down sugar deposits in his test animals. But Dr. Kakkis was operating on a bare bones budget and was unable to purchase the supplies and equipment he needed to make the enzyme in sufficient quantities and pure enough for safe use in treating humans.
In 1992 Ryan’s parents began a nonprofit foundation in Ryan’s name to raise money for MPS I research. They held bake sales, car washes, and profitable weekend golf tournaments, and promptly sent more than $25,000 to the National MPS Society. But Ryan continued to get worse.
By 1994 Dr. Kakkis was desperately looking for support from drug companies who were not interested. Ryan’s parents attended an MPS conference where they learned about a researcher in California who had great success but no funding. The very next day, Ryan’s foundation began to fund Dr. Kakkis’s research to find a cure for MPS I. Would it be too late for Ryan?
Dr. Kakkis kept working hard, and was making slow but steady progress, but Ryan was getting much worse. Finally, in 1996, Dr. Kakkis received 5 million dollars from BioMarin Pharmaceuticals and the pace quickened.
In 1998, as Ryan lay dying with MPS I, he finally received the experimental treatment with Dr. Kakkis’ enzyme. A week later, Ryan showed remarkable improvement. He now receives one treatment each week, has gained weight, grown taller, his fingers have straightened out their curl and he fells great. Once again, Ryan can play baseball with his dad.
Additional information:
The Ryan Foundation
MPS Society