From Porphyria Caregiver to Rare Disease Advocate
As a caregiver and a rare disease advocate, I find seemingly endless opportunities to transform hope into action. It can be overwhelming because I want to have my heart and my hand in all of them!
My primary role is a mom to my son, Brady, who lives with porphyria. But as a consummate doer, and with so many significant challenges in the rare disease space, I’ve taken on more roles. One of the most rewarding roles focuses on research. Without continuous research and learning, we wouldn’t gain a better understanding of the various types of porphyria, or any disease for that matter.
I currently serve as the steering committee chair of the Coalition of Patient Advocacy Groups (CPAG) within the Rare Diseases Clinical Research Network, which is supported by the National Institutes of Health. CPAG represents about 150 patient advocacy groups across even more rare diseases. The opportunity to become chair arose because I was the designated patient advocate for the Porphyrias Consortium, our network of porphyria centers in the United States.
This experience has offered me a view into the inner workings of dozens of rare disease groups and their teams of advocates. I learn about their struggles and successes, and share our team’s struggles and successes in return. Advocates include both patients and caregivers, and my heart swells with pride at their motivation and passion. There are some incredibly savvy leaders fighting for their communities.
We all want the same outcome: a cure. But along the way, we also pine for more information about our diseases. A better understanding of porphyria pain is a prime example in our community.
At the Porphyrias Consortium, we work closely with leading experts. We have an incredible network of physicians focused on porphyria. They are dedicated, incomparably brilliant, and motivated by supporting patients and caregivers. They work to learn more about the porphryias every day while simultaneously caring for patients. They also focus on educating other physicians.
I have the joy of communicating with these physicians regularly. When I was crumpled into a ball on the floor after my son’s diagnosis in 2009, I never imagined I’d one day be bringing these physicians questions and concerns from patients.
On our monthly CPAG steering committee call, we typically have an agenda item called “Share a Win!” It took some convincing for me to keep this on the agenda, as I initially wanted to get right down to business. But it has since become a favorite moment.
We all have good and bad days, and small and big wins. Sharing these victories with one another is inspiring. Cheering on a colleague whose team published an important paper, filled a clinical trial, added a center of excellence, or won an award not only brings them joy, but also gives us hope. I internalize all of their wins and wish the same for all rare disease communities.
We are always mindful that our role as CPAG leaders is to support research efforts, which wouldn’t be possible without patients. Researchers, leaders, and advocates can only do so much without patients’ firsthand experience and the knowledge of how their disease affects their daily life. A patient’s voice is the most important one.
One win in the porphyria community is the Longitudinal Study (LS), the largest current study of this group of diseases that allows researchers to follow porphyria patients over time. Each of our porphyria centers enrolls patients and conducts annual follow-up appointments to collect data.
What are the benefits of the LS? Data collected over time can further our understanding of porphyria, allowing for improved guidelines, advocacy, and treatments. The study will yield more accurate results if more patients get involved. I am grateful for the current participants, hope that more will join, and look forward to the results.
The porphyria community is showing up so that experts can learn more — and that’s a win I’ll be proud to share at the next CPAG meeting.
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.