Notre Dame Students Rallying for Rare Diseases

Carlo and Christian, both passionate students enrolled at the University of Notre Dame minoring in the Patient Advocacy Initiative, found themselves deeply moved and inspired by the rare disease diagnostic odyssey of Brandi and Zach, who’s son, Ivan, lives with a rare form of epilepsy – ARHGEF9 mutation. By uniting both the storyteller and listener, Carlo and Christian offer their insights and reflections on the experience of living with a rare disease, fostering a shared path towards healing and connection.

Ivan’s journey began at around 7 months old when his parents noticed developmental delays. The odyssey to finally get a diagnosis – the ARHGEF9 mutation, a rare epilepsy disorder with limited research and few specialists – was nothing short of grueling. We were struck by struggles that Brandi and Zach experienced and the emotions that they shared, from the initial concerns to the moment they received the rare disease confirmation.

Ivan’s diagnosis upended the family’s life in profound ways. The parents had to restructure their careers, navigate a complex web of specialists, and let go of expectations for Ivan’s life. Yet through it all, they’ve found pockets of joy, building a solid support network and marveling at Ivan’s resilience.

Listening to Brandi and Zach’s story humbled us as they discussed their unwavering strength and determination. Their advice to other rare disease families – to trust your instincts, find doctors you can trust, and embrace the diagnosis as a gateway to help – resonated deeply. “The label doesn’t change who your child is,” Brandi told us, “Getting that diagnosis opens so many doors for support.”

Reflecting on our conversations, we’re in awe of this family’s perseverance. Their story reminds us that rare diseases, while isolating, are far more common than many realize. It underscores the critical need for more research, awareness, and compassionate care for these families.

So, what can we do? Be an ally. Educate ourselves about rare conditions. Amplify the voices of rare disease families and advocates. Kindness and understanding can go a long way for families navigating uncharted paths.

In partnership with Amgen, the University of Notre Dame’s Patient Advocacy Initiative, provides comprehensive programming that advances training, outreach and research to better serve the rare disease community and next generation of advocates. The partnership aids curriculum development and experiential learning opportunities. It will also offer students a unique opportunity to work directly with a rare disease nonprofit to navigate challenges unique to the rare disease community, drawing from connections to hundreds of patient advocacy groups that Amgen has engaged with through its day-to-day work, as well as the company’s #RAREis program. Learn more about the initiative here.