I am back in the office after a long six-day business trip to the west coast. These days I am very conscious of the trade-offs between my business travel and my family life. My three boys, my buddies, are getting older and closer to being off to college to find their own way. Six days working on my business means six precious days missing sporting events and just hanging out with them, my wife, and those close to me. I always think to myself, “make the travel worthwhile…make it count.” Little did I know how worthwhile last week’s trip would be thanks to my final days spent at the Global Genes Rare Patient Advocacy Summit in Huntington Beach, California.
At the summit, which brings together rare disease families, members of industry, advocacy organizations, and researchers, I spoke with parents enduring the unendurable. Parents who found out that their child has a rare genetic disease with no known cure. I had lunch with a brave young father whose child had been diagnosed two months ago with a rare disease that was just being understood by researchers with only a handful of confirmed cases worldwide. He was on a mission – asking questions, learning, taking it all in.
There were advocacy organizations. Many of them run by parents of rare disease kids. Some have lost children or loved ones. Others are in the midst of the battle. All are passionate warriors in the fight against rare diseases helping to make a difficult journey better for other families trying to find their way.
There were also researchers and physicians working to better understand the genetic origins of known and emerging rare diseases. People who dedicate their lives to research and “moving the ball forward” in the fight against rare diseases.
There were members of the pharmaceutical industry and the service industry. People dedicated to finding treatments to rare disease, working with the rare disease community to make these innovative treatments a reality, educating the communities, and providing support.
Last, but by no means least, there were the amazing people living with these rare conditions. We met brave, resilient, determined, impressive individuals dealing, “with the cards they’ve been dealt” (an expression we heard all week) with grace, dignity and humanity.
While many of us support and contribute to the rare disease community, I believe we often take away so much more than we give. Those of us at the summit received some precious gifts this week:
The gift of perspective. Life is short and can turn on dime. Every moment of every day counts. You never know when things will change. Many of the things we worry about are insignificant; they really don’t matter in the greater scheme of things. After conversations with many of these families I am embarrassed at some of the things I worry about and take so seriously.
The gift of inspiration. At the Tribute to Champions of Hope dinner we listened to many incredible stories including Ben Lou, the 2015 Global Patient Ambassador and patient advocate for spinal muscular atrophy. He belted out the lyrics “I’m bulletproof…fire away…fire away” from his wheelchair on stage. He has accomplished so much at his very young age. These kids and families are the true heroes and we walk in their shadows. They teach us about how to overcome adversity and how to accomplish amazing things.
The gift of purpose. Many of us working in the rare disease space are “hooked” as I like to say. There are so many opportunities to help and make things better. These communities need so much and even little things like a heartfelt conversation or advice can help these families so much. No matter how big or small our contribution, we are part of a larger community with a noble and worthwhile cause. The responsibility to effect change lies with each of us. We need to help in any way we can.
The gift of friendship. The rare disease community is full of some of the finest people you will ever meet. I sat and talked with old friends and made some new ones. We spent time learning, sharing, and developing a better understanding of what really matters. Many of the people here have a deep understanding of life and a true appreciation of friendships. Conversations are meaningful and get right to the heart of things.
The gift of hope. We are living in amazing times. We are getting a better understanding of genetics than ever before, new mutations are being discovered, science is advancing rapidly, and new treatments are on the horizon for many conditions. Through my work, I am fortunate to speak daily to individuals and companies on the leading edge of research. Their work is amazing and will fill the future with so much potential. Change is upon us.
Thank you for an amazing week and for these invaluable gifts. I will keep them safe and share them with others whenever I can, including with my wife and boys, who I was especially grateful to see when I returned home.