Rare Disease Day Stories

Generations of Strength: Astrid's Story For 22-year-old Astrid Santiago Santos, Pachyonychia Congenita (PC) is more than a diagnosis. It's part of her family's story. Astrid grew up watching her mother live with PC. One of her two older sisters has the condition as well. Today, Astrid is a … [Read more...] about Astrid

Jane: Still Fighting Jane Santos lives in Fort Worth, Texas and has spent her entire life navigating the realities of pachyonychia congenita — as a patient, a mother of children with PC, and now a grandmother to the next generation. Her story is one of endurance, love for family, and a fierce … [Read more...] about Jane

Sharing my story for Rare Disease Day Dorinda has spent decades supporting her husband and children as they navigate life with pachyonychia congenita. As a spouse, mother, and grandmother, she has witnessed both the physical pain of PC and the emotional toll it can take on families — and the … [Read more...] about Dorinda

Sharing my story for Rare Disease Day Paul navigates the daily physical and emotional challenges of pachyonychia congenita. His story reflects the hidden toll PC can take on identity, relationships, and dreams — and the deep human desire for connection and acceptance. “People think you’re … [Read more...] about Paul

Sharing my story for Rare Disease Day Bertha Felix lives in California and has spent much of her life navigating the physical pain and emotional weight of pachyonychia congenita. Her story speaks to the hidden challenges of PC — and the power of knowledge and community in helping families move … [Read more...] about Bertha

Niam shares what it means to live, compete, and push forward while living with Pachyonychia Congenita As I stood barefoot on the pool deck, waiting for my heat to be called, I curled my toes inward, hoping no one would notice the thick calluses I could not hide. Before I even dove into the chilly … [Read more...] about Niam

Sharing my story for Rare Disease Day “Lvrai nom de notre maladie a été en 2007 grace a l'association le coeur au pieds. jusqu'a ce jour ma famille et moi pensions que nous étions les seul au monde car les médecins ne nous disait pas la vérité. Quand en 2007 nous avons appris que nous étions … [Read more...] about Vanessa

Sharing my story for Rare Disease Day Today is National Rare Disease Day which in our home, has become an incredibly important and transformative day for the Swoope’s. For those that are new and for those that have followed along, here is a brief overview and update on our Krew man. Our first … [Read more...] about Krew