Keeping hope alive

But life for the Crowleys was about to change. His daughter was 4 months old when he and his wife noticed something was wrong. “Megan had difficulty moving,” he recalled. “She wasn’t crawling and had trouble swallowing.” They took her to the doctor tests.
The tests took months to complete and by the time the results were ready, the Crowleys had a newborn baby, their third child. Patrick was just 7 days old when Megan’s test results came back. The year was 1998. “We went to meet the doctor and saw that there was a grief councilor with him,” Crowley said. “We realized the news was not good.”
The results were devastating. Doctors told them that Megan had Pompe’s disease, a rare and fatal muscle degenerative disease that affects fewer than 1,000 children in the U.S. The disease was caused by a missing enzyme and normally resulted in rapid muscle deterioration and death from respiratory failure before the age of 5.
“We had the normal reaction — first shock, then disbelief and, finally, determination to help our little girl,” Crowley said.
The Crowleys’ eldest son, 7-year-old John, does not have the disease, but the genetic nature of Pompe’s meant that Patrick had a 25 percent chance of having it. The parents remained hopeful, however, noting that he seemed much stronger than Megan had at the same age. “He was able to move around,” Crowley said, “he could put weight on his legs.” Within a few months, though, Patrick became noticeably weaker and had started to display the telltale signs of the disease. He developed what is known as “floppy baby syndrome.” His parents had him tested. Tragically, the results bore the same conclusion: Pompe’s.
The 35-year-old Crowley had known adversity and suffered loss before. When he was 7 years old, his policeman father, a first-generation Irish American with roots in County Cork, was killed in a car accident while on duty in New Jersey. Crowley vowed he would not lose his children without a fight.
So Crowley and his wife, Aileen, set up the non-profit organization, the Children’s Pompe Foundation. Its aim is to find a cure and to help victims of the disease. The foundation comprises patients and their families and so is able to give practical advice about the disease.
The foundation needed money to fund research and Crowley tapped into all the business contacts he could. “My class at Harvard Business School were very supportive,” he said. “In fact, they raised the first $100,000.”
Crowley went on to raise $1.5 million. Despite this achievement, he said he felt that more could be done. “The pace of the research was not fast enough,” he said. “I knew we needed a lot more money.”
The foundation gave funding to a university researcher named Dr. William Canfield who had founded a small company called Novazyme in Oklahoma that was doing research into genetic disorders. Crowley was impressed with Canfield’s methods.
“I quickly realized that he was developing some viable medical solutions that no one else was talking about,” Crowley said.
Canfield’s idea was to manufacture the missing enzyme. The enzyme would then be injected in the patient every two weeks, and, in theory, muscles would eventually regenerate, reversing any muscle damage that had incurred.
Crowley then took a step that few young professionals would consider. He left his job to go and work with Canfield. He saw the move as an opportunity to speed up the pace of research.
“I left a six-figure-salary job, mortgaged the house and took a plane every Monday morning to Oklahoma for nearly a year,” Crowley said.
The regular absences were difficult for his Aileen, who had to care for the children without her husband’s help. “It one of the greatest sacrifices that we made,” he said.
But the risk paid off. A sound business plan and Crowley’s experience transformed Novazyme Pharmaceuticals into a market force.
“Novazyme’s staff rose from five people to 120,” Crowley said. “We raised $27 million in venture capital within the year.”
Competition grew between Novazyme and other companies working on replacement therapy.
“Within nine months we were able to sell the company and receive the largest payment that a pre-clinical treatment company has ever got,” Crowley said. Novazyme was acquired by Genzyme Therapeutics in September 2001 for $225 million.
Crowley and Canfield became senior vice presidents of the newly merged company. Crowley assumed control of the various Pompe’s research programs. He says the merger agreement was a good one.
“We lost a certain amount of independence, but we also gained a lot — for example, $50 million will go to Pompe’s research this year,” he said.

Clinical trials
The combined strength of both companies meant that the search for a cure could surge ahead. A new treatment is in the second phase of the Food and Drug Administration clinical trials. Between 30-40 children are scheduled to test it later this month.
Initial trials of this treatment have met with huge success. Of the eight children originally treated, some weak and floppy babies are now able to walk and run, all within the space of a year. Crowley does not know if the treatment will work for his children, but he hopes and prays. The treatment affects each child differently. Neither of Crowley’s children will be taking part in the trials.
Crowley was in Tucson last week to meet the CEO of the Muscular Dystrophy Association and to talk about the trials and research for Pompe’s.
“We have a mutual interest in neuro-muscular disease,” Crowley said. “We decided to share all clinical results and information. The MDA is a wonderful organization. They have approximately 200 clinics all over the country that can provide information, physical therapy and equipment. They have offered to help with some of the family expenses of the children taking part in the trials.”
The cost of caring for a child with Pompe’s is astronomical. “Care for Megan and Patrick costs anything from $500,000 to $1 million a year. They need medicines, special beds, ventilators, nurses and 24-hour care.”
Crowley has a good health-care plan but his bills are still considerable. “The cost became easier to deal with when we sold the company,” he said.
A typical day in the Crowley house starts at 7 a.m. By 8, Megan, who goes to kindergarten at a public school, is dressed and ready in her little motorized wheelchair to be picked up by the school bus for handicapped children. Patrick goes to a pre-school twice a week with his nurse. He is quite weak and although he can move his eyes and hands, he has limited mobility. Crowley does not know why Megan and Patrick were affected so differently by Pompe’s.
The disease does not affect the mind, however, so the children are fully cognizant. Megan is able to read and can do third grade math. She knows that her father is working on “special medicine” for her and Patrick.
Megan’s throat muscles have become so weakened that she finds talking difficult. And yet she is patient with people who have trouble understanding her. Many of the children communicate by sign language. Megan started to sign at 15 months old and is proficient. Patrick knows some basic sign language. Crowley and his wife know the basics too.
Dr. Alfred Slonim of the Children’s Pompe’s Center in on Long Island has been looking after the Crowley children from the moment of diagnosis. He is full of admiration for the Crowley parents.
“They are a very fine couple,” he said. “They are incredibly positive and continue to try to get the best treatment for their children. They set up a foundation so that other patients could get treatment as well. John works 24 hours a day on finding a cure.”
Traditionally, Pompe’s patients die of respiratory failure before the age of 5. Crowley attributes his children’s continued good health to excellent medical care. Drugs are available that make breathing easier and that protect them from colds and flu. Credit, he said, also is due Megan. “She has fire and fight,” Crowley said. “We nearly lost her when she was 20 months old. She had pneumonia, but she survived.”
Still, the Crowleys want their children to have as normal lives as possible. Though Megan and Patrick are on respirators, the family has been to Disneyland and Megan was a flower girl at a wedding a month ago.
“For Megan’s sixth birthday, we hired a limousine,” Crowley said. “The birthday girl, eight girlfriends, her mom, grandmother and aunts all went to New York. They had lunch and went to see ‘Beauty and the Beast on Ice.’ “
This year, Megan hopes for another trip to the big city. But Crowley knows that each day he has with his children is a bonus. “The children have taught us more about life and love than we could have taught them,” he said.