Father's love fuels desire to find cure for genetic disease

By DANIELA FLORES
The Associated Press
PRINCETON, N.J. - John Crowley barely understood some of the words a doctor used when he was told his 15-month-old daughter and 4-month-old son had a rare and fatal genetic disease called Pompe.
All he knew was that the odds were slim that his son and daughter could beat Pompe (pronounced pom-PAY), a disease that interferes with the body's ability to tap reserves of sugar for energy. The disease affects fewer than 10,000 people worldwide and is rapidly fatal in newborns.
In a span of four months in 1998, Crowley's life would change forever with those diagnoses. With the disease attacking two of his three children, Crowley threw himself into Pompe research, traveling the world looking for doctors and organizing conferences.
In 2000, he left a high-paying job at Bristol-Myers Squibb to run a small biotechnology firm doing work on Pompe. Since then, he has helped raise more than $200 million for research into Pompe and other diseases.
"I think we were at the point where the kids were slowly getting weaker every day and we were frustrated with the pace of discovery and development and we wanted to do something extraordinary in some respects," said Crowley, 39, formerly a director of business strategy at Bristol-Myers Squibb, a New York pharmaceutical company with offices in Princeton, N.J. "I don't think I did anything different than anyone else would do for their children."
Crowley's children, Megan, now 9, and Patrick, 8, eventually began an enzyme replacement treatment under a clinical trial. Myozyme, as the treatment became known after it received FDA approval earlier this year, reversed the heart swelling that was putting his children in immediate danger.
Getting treatment for his children, who are both in wheelchairs, breathing with the help of ventilators and eating through food pumps, wasn't easy.
Crowley's quest is documented in a book by Pulitzer Prize-winning journalist Geeta Anand of The Wall Street Journal, who wrote two articles on the family, and a movie is in the works for 2008.
The first draft of "The Cure: How a Father Raised $100 Million - and Bucked the Medical Establishment - in a Quest to Saved his Children" is the basis for the movie, which is to feature Harrison Ford, a script by Robert Nelson and the production team of Michael Shamberg and Stacy Sher.
The book chronicles the difficulties Crowley went through not only at home, but as went from company to company and people questioned his ability to objectively take part in Pompe research.
"I liked the idea of doing a book that was truly inspirational and I thought the story was so rich and so dramatic that it actually had the potential to make a riveting read," Anand said.
After he quit his job at Bristol-Myers, Crowley became CEO of Novazyme, a four-person company working on Pompe research with only $37,000 in the bank. In the beginning, Crowley used a home-equity loan to get cash for research. He later found investors and raised $27 million to produce an experimental drug, then sold Novazyme to biotech giant Genzyme, a Cambridge, Mass.-company with resources to conduct more testing and research.
Crowley became the director of Genzyme's Pompe disease program, and some people initially had questions about whether the 34-year-old could be objective about work that could affect his children's lives.
People outside the company had concerns, too. When Megan and Patrick didn't qualify for a clinical trial, the company arranged a separate small sibling trial for them. But a Philadelphia hospital rejected it because officials were concerned about the fairness of treating only the children of a company's executive.
"I think he (Crowley) had a hard time believing that after all the work to get into that position, that it was in fact compromising his ability to get them (the children) in the trials," Anand said.
When the company applied for a trial at St. Peter's University Hospital in New Brunswick months later, Crowley quit Genzyme to make sure his children could be treated without any questions - and they were.
The enzyme treatment isn't a cure, though.
"There's probably an emergency everyday. A tube comes undone, something goes wrong on the ventilator, they get a plug, they can't breathe," said his wife, Aileen Crowley. "I mean every day, something life or death goes on with them, every day."
John Crowley, after working with a few different biotechs, is now president and CEO of Amicus Therapeutics, a company working on Pompe and related diseases. Amicus has raised $150 million in venture capital, Crowley said, and hopes to have another drug to treat Pompe disease in clinical trials next year.
Megan knows she's waiting for some new medicine, but is busy with the prospect of attending the Academy Awards after "her" movie comes out. A popular student at school who moves around in an electric wheelchair, Megan is already picking out dresses, Crowley said. Patrick, who is weaker and hates to be fussed over, isn't quite as excited.
The Crowleys say they have learned a lot from their children and their struggles, and some things they'd like to pass on to other parents going through similar situations.
"Realize that you can be in as much control of yours or your children's health and you will always be the greatest advocate for your kids," Crowley said, "because there were a lot of times through this that we wanted to stop."
---
On the Net:
http://www.amicustherapeutics.com/
http://www.genzyme.com/


http://www.phillyburbs.com/pb-dyn/news/104-12022006-750311.html

      <----back