I recently joined the ACD as the new Programs Coordinator, and as part of my orientation experience, I had the amazing opportunity to participate in the 2020 Global Genes LIVE virtual conference. This event was not only educational but incredibly inspirational. I learned so much and came away from the experience with a greater understanding of why we do what we do at the ACD. I would love to share some of my highlights and takeaways with you!
The conference wrapped up on September 25th after two weeks of sessions covering a wide range of topics and bringing hope, encouragement, and inspiration to the rare disease community. Despite the physical distance and the challenges of connecting virtually, I was so impressed by the strong sense of community and camaraderie among the speakers and participants. As someone who is new to this world, I was thankful for the opportunity to learn and hear from so many motivating individuals!
The conference kicked off with a session focused on the experience of young adults impacted by rare diseases, a theme that would appear again and again. We heard from many young people who were taking ownership of their diagnosis, finding ways to use their voice, and learning how to navigate the transition to adulthood. I was inspired by their strength, hope, and resilience.
The next three evenings were possibly my favorite part of the conference. These sessions featured several short films from The Disorder Channel. Each told the story of a person or people with a rare diagnosis. There were so many compelling stories! While it is impossible for me to choose a favorite, I was particularly drawn to those depicting the story of siblings. I learned that these young people play a crucial role in the lives of their “rare” family members. I was really struck by their deep level of empathy and maturity. I also learned the importance of supporting these young people as they navigate the unique challenges of their situation.
Another film that is slow to leave my mind was shown on the third evening of the conference. This film was titled “Counting Every Second, a Love Letter Series.” This told the story of Hannah, a young teen diagnosed with GAN (Giant Axonal Neuropathy). Hannah received life-changing treatment via therapies developed by dedicated researchers. These therapies changed the trajectory of Hannah’s life. In the film, Hannah writes a “love letter” to the researchers who developed her treatment. It was so encouraging to see such a strong relational bond between a patient and the researchers who are working so hard to make a difference in her life!
During the second week of sessions we took a deep dive into a wide range of topics, and while the topics were numerous and diverse, I quickly began to notice some underlying themes. First was the theme of relationship. Whether we were talking about genomics, natural history studies, shortening the diagnostic odyssey, or the need for diversity in the research space, this theme of relationship continually came to the surface—relationships between patients and their care team, relationships between researchers and patient communities, and relationships between advocacy organizations and all of the above.
The second theme I began to notice was that of using your voice to make a difference. Researchers called patients to use their voice to share their insight and data. Clinicians called patients to use their voice to share their personal experience. Rare disease advocates called for everyone to use their voice in their own sphere, their own context, to make a difference in the lives of those diagnosed with rare diseases. Rare disease patients shared stories of using their voices to make change happen.
As the conference came to a close, I reflected on what this time has meant for me and my role with the ACD. I truly came away with a greater sense of mission and purpose. I have been challenged to discover what it looks like for ME to build long-lasting, trusting relationships within this community and to use MY voice to advocate and support those impacted by CCDS!
To access the recorded versions of the Global Genes LIVE sessions, you can visit Global Genes’ Youtube page.