Why I’m attending the International Porphyrias Symposium Patient Day
As advocates, we have the opportunity to turn hope into action
When my youngest son, Brady, was diagnosed with erythropoietic protoporphyria (EPP) at age 3, it marked the beginning of a long and challenging journey. It had taken countless doctor appointments and a tremendous amount of persistence just to identify the condition. But as a parent and caregiver, I soon realized that our journey wasn’t just about overcoming challenges; it was also about channeling hope into action.
EPP is a rare and often misunderstood genetic disorder that affects approximately 1 in 75,000 to 1 in 200,000 people. However, it’s only one of eight main types of porphyria that affect even more lives.
Each person affected by porphyria has a unique story to tell, but we share a common hope for better diagnostics, care, and treatments. My journey led me to become a porphyria advocate, driven by the desire to use whatever time and skills I have to further research, raise awareness, and advocate for more therapies and access to them. It’s a path I’ve been on since Brady’s diagnosis in 2009, and it’s a journey I’ll continue to pursue with unwavering determination.
Turning hope into action
A pivotal moment in my advocacy journey was attending my first International Porphyrias Symposium in 2017. It was an eye-opening experience, as I realized that the brilliant minds gathered there were dedicated to studying my child’s disease. The hope in that room was palpable. I’d connected with patients virtually and read publications from physicians, and now I was in the same room with them!
Fast forward to today, and I find myself not only attending the conference but actively contributing to the planning of its Patient Day. As president of the United Porphyrias Association, I have the blessing to work directly with the experts as a co-chair of the symposium and lead Patient Day, alongside a dedicated group of patient volunteers.
This year’s symposium will be held Oct. 26-29 in Bethesda, Maryland. The biennial event brings together the world’s foremost experts in porphyria clinical care and research. It’s a platform where groundbreaking research is shared and innovative treatments are discussed.
The final day of the symposium is Patient Day, dedicated to patients and caregivers. Patient Day isn’t just an opportunity to learn but also a chance to connect on a deeply personal level. Attendees will hear patient spotlights, gain insights from a session called “Porphyrias 101,” delve into current and future therapeutic approaches, and participate in a panel discussion where experts answer questions. The day is also an opportunity to network, meet others who understand the rare disease experience, and give and receive support.
For those attending in person, the symposium will provide several “extras” to make the experience more inclusive, including therapy dogs, safe lighting to protect sensitive skin, rescue carbs for those who need them, activities and conversation, lunch, and a warm and inviting community.
Attending events can be difficult with porphyria, but hopefully these thoughtful accommodations can make it a bit easier. After all, Patient Day is a great opportunity to connect with old friends, meet new ones, and have access to experts who can make a difference in your life.
But what about those who can’t make it to Bethesda in person? Patient Day will be conducted in a hybrid format, allowing people to participate virtually via Zoom. The organizers have gone above and beyond to ensure that virtual attendees can fully engage with the event and its associated activities.
I believe that patients should be at the table alongside doctors, researchers, pharmaceutical companies, and regulators. After all, the goal of the symposium is to improve patients’ health outcomes and expand access to effective therapies. It’s about making the invisible pain of porphyria visible and finding strength in togetherness.
My hope for the future of porphyria awareness and research is to have multiple effective therapies for each type of the disease that are accessible to all patients. No one should feel invisible, and no one should suffer in silence. This type of conference makes headway in turning that hope into a reality!
So why will I be at the symposium’s Patient Day on Oct. 29? Because it’s a chance to turn hope into action. It’s an opportunity to be part of a community that understands the challenges we face and the dreams we share. And it’s a reminder that, together, we can make a difference — for Brady, for me, and for all those affected by porphyria.
I invite all patients, caregivers, and families to join me, in person or virtually, at this extraordinary event. Let’s turn our journey into a shared experience. Together, we are stronger. I hope to see you there!
Note: Porphyria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Porphyria News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to porphyria.