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EXTRAORDINARY MEASURES

A Family Changed Forever
It was winter of 1998 and John and Aileen Crowley were growing concerned that their baby daughter Megan wasn't crawling. At the recommendation of their pediatrician, they took her to a neurologist. Within a month of that appointment, the Crowleys' life changed forever. At fifteen months old, John and Aileen's daughter Megan was diagnosed with Pompe Disease, a very rare genetic disorder which causes a deficiency in the enzyme that breaks down glycogen. The build up of glycogen causes muscle weakness throughout the body, affecting the skeletal muscles, diaphragm, nervous system, liver, and heart. Pompe Disease is a "cousin” disease of muscular dystrophies and a number of other neuromuscular diseases such as Lou Gehrig's Disease. "The [Doctors] told us it was a serious disease,” recalls John. "They told us it was a fatal disease.”

For John and his wife Aileen, it seemed like nothing could get worse. Then they received the call a few months later, after Megan's diagnosis, informing them that their newborn son, Patrick, had also been afflicted with the deadly disease. John relates, "Within a couple of months, we learned we had two kids who probably wouldn't live to be two – it was heartbreaking” (they would later learn that the life expectancy for the hybrid infantile/juvenile genetic form of Pompe that Megan and Patrick have is ‘up to 9 years').

The family was told there was little that could be done. There was no cure and the pace of scientific research on Pompe Disease had been slow, too slow for the Crowley family. Pompe was an orphan disease which means, since it's rare, pharmaceutical and biotech companies don't have as much financial incentive to devote resources to finding a drug to cure it. The Crowleys started to research Pompe but felt constantly out of the loop while navigating the medical landscape, and they were running out of time.

And Megan and Patrick were progressively getting sicker. Day-to-day life was a struggle, living with Pompe. As their muscles weakened, swallowing, chewing and breathing grew more and more difficult and they were soon put on ventilators. They also couldn't walk .

A turning point came to John during one of Megan's hospital stays. Megan was profoundly sick; her heart had stopped three times in six weeks. John had almost given up hope. The defining moment came when Megan's eyes locked on John and Aileen. John recalls that, though she could not speak or smile, her little eyes spoke for her - "They told us she didn't want to quit. She wanted to fight. And from that moment on, we would too.”

John and Aileen started their own business to develop treatment against Pompe. Though John had limited experience in the medical world, he allied himself with numerous scientists and doctors. Now John was faced with an incredible trade-off. His race to develop treatment to save his children required an enormous amount of time – time he could no longer devote to his stable, secure, well paying corporate job (which provided his family with vital health insurance) and precious time he could otherwise spend with his children. His new mission would also mean a lot of traveling, which would put a strain on his marriage. But John put all that aside and leaped. "I think I did my job, as a dad. I did what I had to do,” says John.

Times did get tough for the Crowley family. John received a vote of confidence from his strongest ally - Aileen. "I had a lot of confidence in John,” she remembers. "I knew he had done the research and homework, we just needed to give him our full support.”

Eventually, John's business developed a drug that showed promising, positive results. John quickly pushed for Megan and Patrick to begin the treatment in clinical trials. However, hospital review boards were not ethically comfortable with John being both a parent to the patients<

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