Today is World Duchenne Awareness Day and I am ready.

September 7th used to be a day that I could simply go about my business. Perhaps it would be a day of meetings, or lunch with the team, or a shoutout to my cousin for his birthday, or a weekend decompressing from the typical back-to-school craze. All those things may still be true, but this is the third consecutive year where this specific day will always mean something more to me personally – World Duchenne Awareness Day.

Duchenne Muscular Dystrophy (DMD) is an X-linked, genetic, progressive, muscle-wasting disease affecting about 1:3500-5000 live male births. Those affected experience muscle weakness, loss of ambulation, hampered breathing, and cardiac impairment. There is no known cure, and it is 100% fatal.

My 12-year-old son, Caffrey, is one of the strongest kids I know and happens to be one of these boys whose muscles are wasting away with every breath.

The seventh day of the ninth month has been selected to raise awareness for DMD as it represents the whopping 79 exons that make up the dystrophin gene. It’s the largest known gene in the human genome and its massive length makes it particularly susceptible to errors in the genetic code. The mutations in this gene cause absent or insufficient functional dystrophin which is a protein essential for the recovery of muscles from all activities ranging from the extreme, such as running a marathon, to the benign, such as breathing and a beating heart.

When my family’s first World Duchenne Awareness Day came around in 2020, I wasn’t ready. Caffrey had just been diagnosed in the months prior and I had not fully pulled myself out of the ‘black hole’ I fell into on the day we first received the news. On the outside, my life appeared as it always had but, on the inside, I was a total mess. During the moments I wasn’t fully immersed in my professional work, I would be paralyzed by the fear of Caffrey’s inevitable future. He was the one with the disability and yet I was the one completely crippled by it.

But I wasn’t about to let the shock of Caffrey’s diagnosis take control of my life and sap the joy out of everything I cherished. Instead, I got to work.

What could have been a narrative about despair, has turned into one of optimism and action. For starters, we refused to be derailed by the lack of new therapies or research appropriate for Caffrey’s condition. Instead, we threw ourselves into the world of CRISPR-based therapeutics with Cure Rare Disease and are excited to support this organization as their first investigational program in DMD gets underway.

But I couldn’t stop at being focused just on my own kid when there are so many others that are in a similar situation. Being thrust into the rare disease space really opened my eyes to the huge unmet need in this community that is not being served by traditional drug discovery and development programs. The good news is that we’re in the throes of cutting-edge science: gene therapies, RNA-based technologies, gene-editing and others may have the potential to alter the course of many of these diseases. However, time is not on our side and that’s where the Rare Disease Renegades enters the picture, our non-profit that is focused on accelerating the power of science targeted at bringing a step change in innovation to those living with rare diseases.

Even that is not where I stopped. After a year or two of great introspection, my determination to find a cure for my son bled into my professional pursuits as well. I had been so focused on oncology over the last decades, and I naturally became more curious about genetically driven diseases, such as Duchenne. I found myself wondering how we can harness biology and direct it towards correcting the errors that underpin genetic diseases. With a career change, I aim to help answer that question. When I was first introduced to Alltrna , I could immediately appreciate the potential of their tRNA platform to correct disease right at the source. If we can engineer tRNAs to achieve that for certain mutations in one disease, that would be worth celebrating. But what if we have the possibility of achieving that in dozens, or even hundreds, if not thousands of diseases? That’s something that gets me incredibly excited, and I am so honored to play a role in writing this story with Alltrna’s extraordinarily talented team.

On World Duchenne Awareness Day two years ago, I felt shattered in a million pieces. But I refuse to fall victim to my son’s diagnosis. This year, I have picked those pieces up and started crafting them into a mosaic of possibilities. The picture may not be clear yet, and the result may be different than what I expect, but it will be more beautiful and inspiring than what exists today. This year, I am ready.

#WDAD2022 #Duchenne #MuscularDystrophy #acceleratescience