Hope in Action
— Kristen Wheeden

Navigating the world of porphyria is a journey filled with learning, resilience, and the collective wisdom of countless patients and families who’ve walked this path before. My journey into the world of porphyria didn’t begin in a doctor’s office, but rather through the experiences of my son Brady,…

“Start where you are. Use what you have. Do what you can.” The words of that popular quote, which has several variations, echo a powerful sentiment that resonates especially well within the rare disease community. As we approach Rare Disease Day on Feb. 29, which falls on…

My days often start with a short, guided meditation. With a brain that’s always on the go — making plans, moving forward, synapses constantly firing — starting with a few minutes of calm helps me set an intention and tone for the day. Today, my intention is gratitude. I’m especially…

Life’s like a pickup basketball game — you never know when a twist or turn might change everything. That’s the lesson we learned a couple of weeks ago with my son Brady, a freshman at Syracuse University who navigates life with erythropoietic protoporphyria (EPP), a rare condition that’s always…

I recently returned from The International Porphyrias Symposium 2023 fueled with energy. The conference, held Oct. 26-29 in Bethesda, Maryland, featured a blend of scientific minds and patient experiences. Every handshake and shared story felt like a collective step forward in understanding the group of genetic disorders known as…

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…

My youngest son’s journey to a diagnosis of erythropoietic protoporphyria (EPP) in 2009 took a long and winding path that’s familiar to most patients grappling with a rare disease. Yet one distinctive factor compounded this challenge: EPP symptoms are largely invisible to someone unfamiliar with this…

“Let’s do the 108 Sun Salutations class on Wednesday morning!” my dear friend Nancie texted me. The special class was scheduled for the day of the summer solstice. My initial reaction was to wonder if she really knew me. After all, I’ve spent a significant part of my personal and…

In just a few days, our son Brady will be graduating from high school as part of the Class of 2023. It feels as though my heart will be wearing a cap and gown, crossing a stage, and accepting a well-deserved diploma. On a typical day, Brady’s passing wink and…

As the mom of a 17-year-old son with erythropoietic protoporphyria and a staunch advocate for all porphyrias, I am blessed with some unexpected opportunities. These tend to happen in conjunction with international conferences organized to advance porphyria research and therapeutics. A recent trip to South Africa…

Self-help writer Eckhart Tolle once shared his belief that “awareness is the greatest agent for change.” I hope that’ll be the case as the porphyria community prepares to celebrate its annual awareness initiative on April 19. We have many stories to tell about living with or caring…

In my column, “Hope in Action,” I write about porphyria and the lived experiences of those affected by this group of ultrarare diseases. But for Rare Disease Day today, I want to take a macro view of rare diseases. According to the National Organization for Rare…