Kevin's Journal | Entry 12: Owning Your Rare Disease Story

Join me, Kevin Alexander, as I share my rare disease story, living with Phenylketonuria (PKU), and the lessons I've learned on this journey. Through embracing our unique narratives to understanding the strength in our community, this episode delves into the complexities and victories inherent in the world of rare disease advocacy.

This episode was inspired by an article I wrote for PTC Therapeutics called “Owning Your Rare Disease Story”.

About Never Give Up: A Rare Disease Podcast

This is a storytelling podcast exploring the intersection of life, mental health, and rare disease. Sometimes I interview guests, but mostly… I just want to tell you some stories. Stories about hope. Perseverance. Self-worth. Self-care. Stories that hopefully inspire you to keep going. And to never, never, never give up.

Contact Kevin Alexander

Website: PKUJournal.com

Instagram: @kevinalexander_pku

Facebook: @pkujournal

LinkedIn: Kevin Alexander

Email: kevinalexander@pkujournal.com

Resources

There are a few resources I mention throughout this episode.

Global Genes: A great organization to connect with on your rare disease journey. Check out their website and Facebook group.

My PKU Life: This is the short documentary that began my advocacy journey. If you’re new to PKU, this is a good place to start.

PKUJournal.com Videos: I’ve produced a lot of videos over the years for the PKU, newborn screening, and rare disease communities. I’ve posted a few of them on my website.

“The Power of Small Decisions”: An episode of this podcast that tells my story of covering the Columbia Shuttle Disaster in 2003. A reflection on how we often can’t realize the impact of our actions until years later.

“Regaining Hope: My Journey to Rare Disease Advocacy”: The first episode of this podcast tells my mental health story. My journey of working in TV photojournalism to my experiences in PKU, newborn screening, and rare disease advocacy. It’s the foundation of this show, a reminder of what I believe with all my heart: no matter how dark it gets, there is always hope.

Louisiana Metabolic Disorders Coalition: I do a lot of national and international advocacy work, but this is the organization I serve close to home. We represent those affected by all metabolic disorders.

Global Association for PKU (GAP) PKUGlobe23: This episode is adapted from a speech I gave at a virtual PKU event in December 2023. The recordings from this multi-day event are available for on-demand viewing. It included presentations from leading researchers and advocates, as well as a panel discussion I hosted with adults living with PKU from around the world.

“Finding Your Rare Disease Community”: The first of two episodes of this podcast recorded from the 2023 ESPKU conference. It features interviews with 26 people from around the world affected by PKU. While set at a PKU conference, the story is an exploration of the power of connecting with any rare disease community.

“One Global Community”: The second episode from ESPKU 2023. It features 8 in-depth interviews about PKU-specific topics. But, there are some great reflections in here about the power of connecting with community, the importance of mental health, and the emotional toll of rare disease advocacy.

Everylife Foundation and Rare Disease Week: I attended this event for the first time in 2023, and highly recommend it for all rare disease advocates. We often find ourselves advocating for our specific rare disease communities, but this was a great opportunity to meet others in the broader community. And realize that as we fight for ourselves, we are also fighting for others.

Rare Disease Day: This global event is held on the last day of February each year. There are about 10,000 rare diseases affecting 400 million people globally. And this day is a reminder that we are not alone.