A NEW GENERATION OF DRUGS: FIGHTING DUCHENNE WITH PRECISION MEDICINE
By Rich Horgan
September 12, 2019
How advancements in genetic tools are enabling us to decipher a patient’s DNA and correct the life-threatening mutations
The experience of dealing with a rare disease can be overwhelming for both patients and their families. Diagnoses are often difficult, involving repeated visits to multiple specialists and hospitals. Once a diagnosis is made, patients live with severe restrictions and life expectations as only 5% of rare diseases have an effective treatment or cure. Despite being collectively known as ‘rare diseases’, over 10% of the population is impacted by 7,000 different rare diseases.
It is difficult to understand the emotional cost of disease unless you are touched by it. Duchenne muscular dystrophy (DMD) is one of those 7,000 rare diseases – and one of the most fatal. Duchenne has radically impacted my life and that of my family. My younger brother, Terry, is impacted by the condition. Now 24 years old, Terry has bravely fought against the disease for over two decades in hopes of an effective treatment; yet despite advances, there is no therapeutic option for him, or thousands of other children impacted by not only Duchenne but other rare diseases.
My first memory of the horrors of Duchenne came when I was 13 years old. My brother (who was 9 years old at the time), dad, and I went to see the kid’s movie Chicken Little. Leading the way into the theater, I set our snacks down on the 3rd or 4th row up. As I sat down in the darkened movie theater with previews running, my dad and brother were only a few steps behind me, or so I thought. When I turned around, I saw through the darkness that they were held up at the first step. Confused, I motioned for them to join me. It was then that I saw my brother struggling to walk up the first step. He kept trying but his legs couldn’t muster the strength to climb even one step until my dad picked him up. I never saw steps the same way after that day, and it would become the first of many instances that started an all-consuming fire in me to end this disease and save those affected by it.