Pat Furlong is President and CEO of Parent Project Muscular Dystrophy (PPMD), the largest nonprofit organization in the US solely focused on Duchenne muscular dystrophy. She lost both of her sons to Duchenne but continues to lead the organization and is considered one of the foremost authorities on Duchenne in the world. She was recently named a World Changer by The New Yorker and a 2010 WebMD Health Hero.
Did you ever play the game Chutes and Ladders? It’s a classic board game that involves navigating up chutes and avoiding ladders that drag you back down. Life is that way. A series of chutes and ladders.
My children absolutely loved this game. They were delighted when they slowly and carefully moved their game piece along the path, holding their breath as they escaped a fall. With one roll of the dice we all knew, we might be sent spiraling down into oblivion. The goal was to avoid the chutes. It’s not easy because there is no control of the dice. The roll of the dice is random.
My children developed some techniques for luck. They would blow on the dice, kiss the dice, hold the dice up to their forehead trying to transfer positive thoughts or luck to the roll. But we knew. Whether it was luck or fate, one roll of the dice could change everything. It wasn’t exactly something you could plan for. It just happened. Life is the same, hardly a game, but filled with chutes and ladders.
The word Duchenne muscular dystrophy (Duchenne) walked in our home unannounced. It arrived the day my sons were born. We lived with it for some time, at times having hints of its presence – delays in motor function, complaints of ‘tired legs’, a strange way of running we once thought cute, falls, but we prepared excuses and went on with our peaceful existence.
And then one day, we could no longer avoid the obvious weakness.
Several physicians dismissed us as worried parents until we landed in the office of an orthopedic surgeon. He noticed the enlarged calf muscles — pseudohypertrophic, he called it. He watched the gait, asked each of them to sit on the floor and then, stand up. “Gowers’ maneuver,” he said to himself, but loud enough for us to hear.
I closed my eyes and felt our lives falling down the chute into oblivion.
Duchenne muscular dystrophy (Duchenne) knows no discrimination, affecting all races and all cultures uniformly. The genetic basis of Duchenne is well characterized. In fact, the Dystrophin gene was identified in 1986 and the protein product in 1987. Ladder.
In the ’80s and ’90s, the CIDD (Clinical Investigators Duchenne Dystrophy) conducted trials, testing approved drugs. All failed except prednisone, which increases strength but has significant side effects. Additional trials were conducted, testing drugs approved for other indications as well as supplements without significant results. Chutes.
In 2001, the MD-CARE Act was signed into law. The effect of this legislation has been monumental. In the last ten years, an estimated $200 million NIH dollars have been invested in muscular dystrophy and with it a, ripple effect throughout the community. Therapeutic nihilism (no hope and no help) diminished. Physicians joined parents in hope.
Twenty years of basic science into the pathology of Duchenne started paying off, yielding possibilities. Biotechs formed. Big pharma joined forces. Today, promising trials in antisense oligonucleotides (repairing the gene), muscle regulators (improving size and quality of muscle), protecting and preserving heart function (the heart is a muscle too!), and improvements in care have changed the landscape of Duchenne. The investment in Duchenne muscular dystrophy now exceeds $4 billion dollars. There is a partnership: advocacy, academia (research and clinical), government, industry. Ladder.
Duchenne is now at the tipping point. People diagnosed with Duchenne and everyone who loves them are positive, hopeful. Trials are underway. Expectations are high. Duchenne is on the grid, each potential therapy moving forward systematically and carefully. Individuals and families learning about the process, drug development, outcomes research (how to measure benefit), and regulatory concerns. And the conversation has changed.
From hopeless to hopeful, from if to when, from then to now.
While the diagnosis continues to feel like a chute on life’s journey, there is a ladder under construction. And the conversation is changing – now it’s about access to care, new research, and ways to live a quality life in spite the Duchenne diagnosis. Ladder.