Chasing miracles

My interview with John Crowley, whose family's story has been made into the new movie Extraordinary Measures, in today's Weekend magazine in the Irish Independent

John and Aileen Crowley sat dazed in the doctor’s office, struggling to comprehend what they were being told. It was a bright spring day in 1998, and just a week beforehand this young San Francisco-based couple had been celebrating the birth of their third child, Patrick.

On this day, however, March 13, the Crowleys were in hospital to hear the results of tests on their 15-month old daughter Megan, who had yet to start crawling or trying to speak. Their eldest son John Jnr, then aged three, was a slow starter and was later diagnosed with a learning disability, so at the very worst the Crowleys were expecting a similar prognosis for Megan.
Instead, they were told that the toddler was suffering from Pompe Disease, a genetic disorder so rare that fewer than 10,000 people in the world are born with it. The degenerative disease weakens the muscles of patients so they eventually can’t walk, talk or even breathe on their own.

John and Aileen were stunned, but the full horror of the diagnosis was yet to come: babies and young children diagnosed with Pompe usually don’t live past their second birthday. What’s more, seeing as the parents were likely recessive carriers of the gene, there was a strong chance that baby Patrick had the disease too. This was confirmed by tests a few months later.

Once the shock set aside, the Crowleys decided to get active. When the medical establishment failed to come up with a cure, John took matters into his own hands, quitting his $120,000-a-year job as a marketing director in a pharmaceutical firm to co-manage a tiny biotechnology company focused entirely on finding a cure for Pompe, a company that at one early stage had just $37,000 in the bank, but was sold for well over $100m a year later. The best part of all is that John ultimately found a treatment to save his children’s lives.

It’s an incredible story (first covered in Geeta Anand’s book The Cure) that has now been made into a new movie, Extraordinary Measures, starring Brendan Fraser and Keri Russell as John and Aileen, as well as Harrison Ford, whose character is an amalgam of several doctors and biotechnological researchers the Crowleys dealt with.

To tie in with the release of the movie, John has written Chasing Miracles, his own personal account of their experiences since that fateful day Megan and Patrick were first diagnosed. “You go through every possible emotion when you hear news like that,” John explains to Weekend from the family’s current home in Princeton, New Jersey.

“You just hear the word ‘diagnosis’; then, ‘I’m sorry there’s nothing we can do’; and, ‘She’s only going to live to be two years of age’. But once we got past that shock and that fear, we grew determined to at least find out everything we could about this disease, and to try to live as normal and full and joyous a life as possible.”

In his book, John writes honestly about how difficult that first year was after both kids were diagnosed: the enormous adjustments that had to be made to accommodate hospital visits, live-in nurses, and the fact that two young children were now living hooked up to 40 pound ventilation machines.

In particular, he describes the perhaps inevitable strain it put on his marriage to Aileen, his high school sweetheart and now wife of 20 years. “We went through so much with Megan, and then three months later went through it all again with Patrick,” John says. “I thought at the time we were handling it well, but there were moments when it nearly broke us and nearly broke me.

“I think eventually we realised what we wanted in life, and what we wanted out of life, and that takes the strength of one another. Aileen and I have this one rule between us that’s evolved over time that neither of us can have a bad day at the same time. And that’s hard sometimes, but we just can’t. One has to be strong for the other, and that helped a great deal.

In retrospect, the Crowleys needed that arduous period to mourn the life that they thought they’d have and embrace the one that they’d been given. The mission now was to save their children. For starters, they founded a charity called the Children’s Pompe Foundation to fund research into clinical trials on young Pompe patients (raising $750,000 over the course of a year).

Through John’s research, he’d met a scientist named Dr William Canfield, who had just started his own small company, Novazyme, with the intention of researching Pompe. Megan and Patrick had defied the odds to live longer than expected, but their conditions were deteriorating at an alarming rate. They desperately needed a cure.

In April 2000, John quit his steady job to work with Canfield’s start-up, which employed just four people, and was already running perilously low on cash. For the next three years, John’s task was to raise money to fund research and clinical trials, as well as to help to navigate the choppy legal and ethical waters along the way.

It’s a process that he looks back on as “excruciating”. “Those couple of years were incredibly intense,” he says. “There were so many personal and professional risks. It wasn’t always easy, particularly in the fall of 2002 when we were told the kids didn’t have long to live. We’d done eight clinical studies by that point, and we were getting political pressure from some European countries to send drugs on a compassionate basis, which we did.”

Indeed, avoiding any kind of ethical and ‘conflict of interest’ charge proved to be amongst the hardest challenges for John. “I remember one day I had to instruct my team to pack up enzymes, put them on dry ice, and get them to a hospital in Italy - but I couldn’t get my own kids treated. That was very difficult.”

Despite being a tiny, fledgling company, the industry obviously saw potential in Novazyme’s work. In September 2001, John sold the company to a huge corporation, Genzyme, in a deal worth between $100-$137m (John’s share came to $5m).
It took another 15 months, however, for a real medical breakthrough to help Megan and Patrick, but on January 9, 2003, the two kids started receiving groundbreaking enzyme replacement therapy that their dad’s former company had helped to create.

The treatment saved their lives. “The children’s energy levels changed after the first night of transfusion,” John recalls. “Within 12 weeks, we got the first reports that their hearts, which had been two-three times the normal size, were shrinking. That was the first of many incredible moments. I remember the first day that we noticed Megan was smiling again.” John pauses, his voice faltering. “That was a beautiful day.”

However, it soon became apparent that the “special medicine” (as Megan called it) would only treat their illness, not cure it. “That was disappointing, but if nothing else it made me realise that we weren’t done,” John says. “That’s when I got back into biotechnology [John is currently CEO of Amicus Therapeutics]. This wasn’t the magic cure, but it was a good first step.”

Today, all of the Crowley family treats the kids’ condition with as much humour as possible. “What would we do otherwise, cry?” John says, chuckling. “We laugh at everything, including each other. Megan has an incredibly sarcastic wit. She describes her Pompe using air quotes as a “minor breathing problem”.

“Patrick is quieter than Megan, but he has a quiet strength. Pompe hit him a little bit harder, and he’d dealt with it differently to his sister.”

Meanwhile, the Crowleys’ eldest child, John, now aged 15, has had his own struggles to overcome. “John is a special needs kid with learning disabilities, but I don’t think that if Patrick and Megan were perfectly healthy that it would be any different for him,” John explains. “John just doesn’t know life any differently and he has dealt with it all remarkably well. That said, Aileen and I joke that it takes more effort to keep track of John that it does the other two!”

Megan and Patrick are now aged 15 and 11 respectively, and by all accounts they are extremely confident, ambitious kids. Patrick has told his parents that he wants to be a police officer when he grows up. “He went to a youth camp with [his brother] John run by the police department here in Princeton,” John recalls with a laugh. “I came home after their first day and I was like, ‘Hey buddy, how was police camp?’ Now this kid could barely move a muscle but he looked at me and said, ‘Freeze! Put your hands where I can see ‘em’.

“Megan, on the other hand, is torn between being a teacher or a fashion designer. She says she wants to go to Stanford University because the weather is nicer in California. Clever girl.”

As the Crowleys continue to make the very most of life, and press on for another medical miracle, John says his brave children are a constant source of inspiration. “They’ve never felt sorry for themselves, not once,” John says proudly.

“It takes Megan and Patrick two hours to get ready every morning, between taking their medicine, having their physiotherapy, and getting them in their wheelchairs. They do that every day: two hours just to get ready for three hours of school, and they never complain. My kids have taught me such a great lesson in life.”

*Extraordinary Measures is in cinemas now. Chasing Miracles: The Crowley Family Journey of Strength, Hope and Joy by John Crowley is published by Newmarket Press.

Parents Who Cure:

The Crowleys’ search for a cure for their children resembles the story of Augusto and Michaela Odone, whose son Lorenzo was diagnosed with the apparently untreatable nerve disease adrenoleukodystrophy (ALD) in the early 1980s. Their case later formed the basis of the movie Lorenzo’s Oil starring Nick Nolte and Susan Sarandon.

Ignoring the claims of medical experts that nothing could be done, the Odones persevered, recruiting researchers, visiting doctors all over the world and looking at animal experiments.

Eventually they discovered a therapy by which they added an oil made from olive oil and rapeseed oil to Lorenzo’s diet.

The oil helped to halt the progression of the disease, and Lorenzo regained his sight and started swallowing for himself. Sadly, Lorenzo died at home in Virginia in May 2008, one day after his 30th birthday, having come down with aspiration pneumonia. He had lived more than 20 years longer that doctors predicted, and is the oldest known survivor of ALD.