The Voices

A Father’s Love

Pompe Disease

How a family with a rare disorder bucked America’s medical establishment

John Crowley wasn’t looking for fame or fortune. Nor was he planning on becoming a senior executive in biotechnology. As a young man he studied at Georgetown University and Notre Dame Law School, before graduating with an MBA from Harvard in 1997.

He was working as a management consultant in San Francisco in 1998 when two of his children, Megan and Patrick, were diagnosed with a severe neuromuscular disorder called Pompe disease. There was no cure or treatment for Pompe, and his children, who had the infantile-onset form of the disease, would likely die before their teens.

Pompe disease is a horrific genetic condition that disables the heart and skeletal muscles, but it is particularly impactful when it manifests in children.

Toddlers usually require a respirator to breathe by the age of 2, they suffer paralysis by the age of 4, and most die from respiratory failure by the age of 9.

When his children were diagnosed with Pompe disease, Crowley immediately moved his family to New Jersey to be closer to doctors who specialised in this rare genetic disorder. He put his law qualification to one side and then got to work, immersing himself in health research.

What happened next was immortalised in the 2010 movie ‘Extraordinary Measures’ with Harrison Ford playing the lead role. The movie chronicles how Crowley and his wife, Aileen, co-founded a small biotech company which had produced some promising research into a therapeutic treatment for Pompe.

It was a small, four-person company which John Crowley said had “no revenue, no product, and an untested idea that would require years to prove. It was as start-up as start-ups get”.

The only issue was the company had just over USD$30,000 in its bank account. They would need millions to further develop the research and fund clinical trials. The Crowley’s extended their mortgage to keep the company afloat and remarkably, in the space of 12 months, they raised USD$27m in venture capital.

The result was the drug Myozyme. In 2003, the Crowley’s two children began treatment as part of a three-year clinical trial. The disease was well advanced in both children, but the drug reversed the enlargements of their hearts and improved their muscle strength. Myozyme isn’t a cure, but it continues to save lives.

The pharmaceutical company, Sanofi Genzyme now markets the Myozyme treatment globally.

New Zealand doesn’t fund Myozyme for the treatment of the adult-onset form of Pompe. The drug is only funded for children, but no child has ever developed Pompe disease in New Zealand.

Some adult sufferers of Pompe disease, like Freda who was interviewed for The Medicine Gap, have been given compassionate access to the drug.

John Crowley is now Chairman and CEO of the biotechnology company, Amicus Therapeutics, and he continues to focus on developing therapies for rare and devastating diseases. His company is currently pursuing a ‘second generation’ treatment for Pompe disease.

In a recent interview Crowley said “…over the next couple of decades, we truly have the chance to change the course of disease and profoundly impact the course of human history to alleviate an enormous amount of suffering. That’s a great, great opportunity for us.”

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Achieve a measurable, political commitment to reform Pharmac and create a fit-for-purpose drug-buying agency that supports and enables greatly improved access to modern medicines – and ensure a direct line of political accountability.




Introduce a globally accepted modern, cost-benefit analysis for medicines and medical devices which looks at the ‘value’ of a medicine, and considers the financial, economic, and social impact of untreated disease on our society.




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