Not Afraid to Defy Nature — A Father’s Bold Creativity.

The doctor’s hands tremble in his office as he reads from a textbook, explaining terminologies to a young married couple.

It’s Friday the 13th.

Meagan’s over a year old. She’s taken no first steps and isn’t pulling herself up in her crib. So the couple listen carefully.

The father’s a smart cookie to say the least. In his early 30’s, he’s hit goal after goal despite coming from humble beginnings in Englewood, Jersey. A year ago, he completed an M.B.A. from Harvard to add to his law degree. Fresh out of studies, he’s now excelling in his career as a business strategist — even loving the long 100 hour plus work weeks.

He’s also father to three healthy young children. Their third, Patrick, is just seven days old. Patrick’s in the doctor’s room with them, he’s lying in the car seat carrier. His mother and father look forward to the American Dream — trips out to the cinema, and Burger King stop-in raids late at night, all as a big family.

But, something’s decided to come up.

This doctor’s appointment is the culmination of many visits — from paediatricians to neurologists; and tests galore — from blood work to biopsies. It’s about to lead our hero to carry out feats worthy of the big screen…

Enough’s enough.

“Is it serious?” the young man asks.

“Yes,” says the doctor. “It’s very serious.”

It’s called Pompe’s Disease. It’s a rare neuromuscular illness. Neither parent’s heard of it. There’s no history of genetic disease in the family, but both are in fact silent carriers.

(If you’re curious, most people have a dozen or more traits for rare genetic diseases. If you happen to pair with someone with the same trait, your children have about a 1-in-4 chance of developing the related disease.)

“Meagan has a genetic defect,” the doctor continues. “Because of that, it’s ravaging her muscles.”

“Doc, how serious is it?” the father says. He’s numb.

“I don’t think she’ll live another year…

And your son Patrick should be tested too. There’s a 25% chance he may have the disease.”

The car ride home to Walnut Creek with baby Patrick happens in silence.

They return home to a shattered American Dream. The husband opens the front door to his house. He’s unable to look his daughter Meagan in the eye. She’s sitting in her high chair, oblivious of the twist of fate.

Enter: Denial, tears, shock…then after Aileen goes to bed that night, compulsive research on the internetresearch that marks the beginning of an epic fight to defy nature.

It’s 1998. Google’s not been invented.

An internet search reveals little progress has been made on a cure for the disease. But remarkably, he comes across a study dated a month ago, in which a Duke University doctor managed to correct Pompe’s Disease in some animal models of it.

He’s belated and wakes his wife, then spews the science to her despite knowing little about science himself.

His wife stares, clearly at a loss.

“Aileen,” he says. His imagination forms trails to some distant horizon. It’s a goal that not even his wildest career aspirations could match in magnitude. “It means there may be some hope.”

The stakes rise.

Patrick’s diagnosed with Pompe’s Disease a month later.

The double-whammy grief, the denial quickly burns away to intensified resolve — both parents know that time does not permit otherwise. The couple decide that, whether nature proves to be unshakeable or not, they’ll at least try to change its course.

The father’s next few weeks are filled with fiery research in an effort to save his disintegrating family. He locates leading scientists researching Pompe’s Disease, primarily one in Duke University and a research team in Rotterdam, Netherlands.

Then comes the juggling act: Taking Meagan to visit researchers, balancing two infants at home, all the while being a year out of business school and in a demanding job at Bristol-Myers Squibb. He perseveres. In one year, the couple help to raise about a million dollars for not-for-profit foundations involved in researching rare diseases.

Hope.

Some very exciting research at the University of Oklahoma appears.

Tragedy.

In the next few weeks, Meagan’s ability to eat goes away. By the fall of 1998, so does her ability to breathe. Then small pneumonia hits. She nearly dies in hospital and has to be ventilated. Six months on, the same happens to Patrick.

Within a year the couple have gone from a normal, burgeoning family to having two ventilation-dependent and wheelchair bound kids. The race against nature’s now a race against time too. By early 2000, the man has a decision to make:

  1. Go on a mission to save his children full-time and quit his career?
  2. Capitulate to nature?

He’s no stranger to death.

When he was just eight years old, his father died on duty as a policeman — an accident. But this time he can influence the outcome, with his own children…So he quits his job as business strategist, teams up with the Oklahoma University researcher, and forms a little biotech company with him called Novazyme Pharmaceuticals.

As CEO, his first investment in Novazyme is a $100,000 home equity loan, which is the full value of his family house. MORE: Visa, MasterCard, Angel money, family and friends…exceedingly difficult money to raise, but critical to keep the company afloat in the early stages. The MISSION: Enzyme therapy, to replace the one Meagan and Patrick cannot produce.

He and his business partner make up rules and break others in the running of Novazyme. Amazingly, by early 2001 the drug begins to show promise. Using momentum to power decisions, they’re making Novazyme very, very attractive to investors.

Another decision: More manufacturing capabilities are needed, and Meagan and Patrick are still in dire conditions. His company is attractive and is showing promise. Should he sell Novazyme to the largest biotech company around in the world, their main competitor — Genzyme Corporation?

Genzyme’s business is in finding solutions to rare diseases. Genzyme have to make it work, the man concludes, so he sees them as the best bet and sells. True to Genzyme’s word, the deal leads to their most expensive R&D program ever, costing hundreds of millions of dollars. He becomes the senior Vice President of therapeutics for them through the merger.

After a time, a single experiment shines.

Children begin treatment, with remarkable results! But…he can’t get his own children in the trial. Patrick and Meagan still use ventilation to breathe. They have loss of skeletal muscle strength. More worrying, their hearts are enlarged to the point of being life-threatening.

Patients who ARE being treated are seeing great results. Cardiac issues are being reversed. In some cases, weakened muscles are strengthening…But, still, he can’t get his children on the program despite being its Vice President. Meagan and Patrick are deemed too old for the experiment’s specific protocols.

Little time becomes no time.

August 2002: A family vacation at the Jersey shore.

The day before: During an appointment, doctors give Patrick six months to live. Meagan’s given a year, based on echocardiograms. Looking back — “We had the drug,” the man says. “It was reversing damage. But my kids weren’t yet in on that drug.”

The following day, he gets a call from a Genzyme colleague…The next trial with the material will be with Pompe infants. His children won’t qualify, due to the age range. Months and months of back-and-forth negotiations occur, instigated by the father. Looking back — “There were many [critical conversations],” he says. “And I handled them poorly. That was the most desperate I had ever been in my life.”

Defying Genzyme: He decides to get his children treated anyway. This would be a breach of Genzyme’s policies and procedures, going directly against their protocols. He makes an agreement under-the-table with a few doctors…“Better to ask for forgiveness than permission,” he thinks. But people find out. Any trust that he has with Genzyme Corporation is broken. He later looks back to say — “For me, I thought it was worth the risk. I took the risk, and I lost.”

Just as he loses all hope, colleagues fight for his case. They find a hospital that can run the protocol on his children.

But the attempt is blocked by an institutional drug review board.

The board say that Patrick and Meagan’s parent is an executive member of Genzyme. This is not allowed. He fights the decision for a week, then steps back. Stepping back’s not something he’s used to doing, but he’s pushed the matter as far as he can — it’s out of his hands.

Christmas Eve.

The man receives a card with a beautiful picture of the blessed mother. Also inside, is a copy of a hospital letter…A small catholic hospital in New Brunswick has agreed to treat Patrick and Meagan. The siblings will become the 27th and 28th patients in the study.

He cries, then bursts with desire to share the news with his wife, family and kids. Instead, he waits until Christmas Eve dinner. He drinks wine. He listens to his kids’ grandfather — Poppy — read Twas the Night Before Christmas.

Aileen has no idea why her husband is beaming. They sit down for dinner, say grace. Then he declares that he has something to share.

He reads the letter to the room.

Looking back — “That was a good night.” No pun unintended on Poppy’s reading, I think.

Twelve weeks after treatment, he shows his daughter an image of her heart, before and after. It’s shrunken to normal size. “Meagan,” he says to the six-year-old, “this means you’re going to live to be an old lady.”

Meagan looks at her father. She puts her arm around him, gives him a big hug and kiss, then simply says, “Thank you.”

The man’s name is John Crowley.

He continued devising next generation treatments for Pompe’s Disease, with his company Amicus. Crowley also grew up two children who did not feel sorry for themselves despite having disabilities. “I would say we raised our kids. Meagan would say she raised us.”

If this read like a movie script, that’s exactly what it became, as well as a book. The movie Extraordinary Measures was released in 2010 and starred the actor Brendan Fraser who played Crowley.

Lessons

What can we take away from this bigger than life story?

#1 Find your purpose. But if another suddenly jumps out at you, consider throwing down the old one, and seizing the new one’s power.

You’ll know your purpose because it’s something bigger than you and everything. It will stimulate your full faculties. If tragedy or fortune hits take it as an opportunity to create something new and completely unexpected. Staying the same isn’t a virtue.

Looking back — “I think it was successful,” the young man says, “because we literally did not know what we were doing.” Bored? Uninspired? Unable to find the motivation to burn the candle and slam your foot on that gas pedal.

Keep trying new things. Or solve a big problem currently in your way, if it’s compelling enough.

Your purpose is the thing you LOVE to do or unable to STOP thinking about. Great — now you have the fuel required to kick down doors and obstacles in your way.

#2 Take the chance, if it compels you, and especially if it’s uncertain.

Some theologians describe the process of bringing to light that which seems impossible as Divine Darkness. It’s the potential for unknown great truth to appear.

In other words, Crowley had the choice to accept that nature had lined up against his children…Had he done so Patrick and Meagan would not have survived past infancy. Many others would have also perished.

Bold folks don’t say “that’s too hard”. They dig their heels in and pursue mastery — over themselves and nature itself, until they reveal the light inside the darkness.

It’s that simple.

For any medical professionals looking to stir the industry up, here’s a last quote from the man himself: Crowley — “I’ve always believed if you make great medicines — push science and research as far and fast as you can — you’ll figure the business model out.”

So what did you think — how bold was that story? How can you jump more boldly into yours? Let us know by dropping a comment . Read us again, and remember, fortune favours the bold.

Bold -The art of possible

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Let the boldness be with you to live, to love, to create, to be yourself — www.thebold.app.

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