Monday, January 11, 2010

Extraordinary Measures for an Extraordinary Family

I had the great fortune to interview John Crowley, the inspiration behind the new movie Extraordinary Measures. He seems like a regular guy, though he is clearly anything but. If you haven’t seen the commercials for the trailer, the story is one that began with sadness and frustration. Yet, due to the fortitude, strength, and determination of John and his wife Aileen, it is a story of inspiration, happiness, and admiration.

The Crowley’s daughter Megan was fifteen months old when they got the diagnosis that she had Pompe Disease. At the time, their baby Patrick was only seven days old. A few months later they had Patrick tested, to discover that he also had the disease. The Crowley’s oldest son, John III, born in 1995, is not afflicted.

Pompe is a very rare genetic disorder which causes a deficiency in the enzyme that breaks down glycogen. A “cousin” disease of muscular dystrophies, the build-up of glycogen causes muscle weakness throughout the body, affecting the skeletal muscles, diaphragm, nervous system, liver, and heart. Neither John nor his wife Aileen had ever heard of the disease, or had any idea that they were both silent carriers.

There was no cure for the disease and the pace of scientific research was excruciatingly slow. The Crowleys started to research Pompe themselves, but felt constantly frustrated with the slow pace of results. They were running out of time as Megan and Patrick became progressively sicker. As the children’s muscles weakened, swallowing, chewing and breathing grew more and more difficult and they were soon put on ventilators. They also couldn’t walk.

John and Aileen knew they could no longer sit back and wait. Though John had limited experience in the medical world, he allied himself with numerous scientists and doctors. He knew he was in a race to develop a treatment to save his children. At the time he worked at Bristol-Meyers. “It was a wonderful place to work with great people and great benefits including health insurance,” explains Crowley. “I envisioned I would stay there a long time. Only out of a sense of frustration that science wasn’t moving quick enough, did I take the step and the risk of leaving the security of that job to start a company from scratch and raise money.”

He became CEO of the start-up business, Novazyme, a biotechnology company that conducted research on a new experimental treatment for the disease. They were acquired a year and a half later by Genzyme Corporation, one of the world’s largest biotechnology companies. John served as Senior Vice President of Genzyme’s worldwide Pompe Disease program, where they found a drug that showed positive, promising results.

The children joined the clinical trial for the drug seven years ago. Today, Megan, 13, and Patrick, 11, have beaten the odds. “The medicine that we developed saved their lives in that it fixed their heart, and the heart was the most life threatening aspect of the disease. Before they received the drug, their heart was two to three times normal size. It’s now normal – you couldn’t tell it from another kid,” explains Crowley.

The goal now is to find a drug that will keep making Megan and Patrick stronger. His current company, Amicus Therapeutics, along with other biotech companies, are working on these drugs. “There are a lot of exciting technologies on the horizon,” Crowley points out. “Megan and Patrick may hopefully live many more decades. It’s one day at a time, and we appreciate every day we have together.”

To learn more about the Crowleys, visit

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