Rare Disease Day was February 28, and you came through to tell the world more about us!
Our goal was to shine a spotlight on PC and other rare skin diseases in our registry. But we couldn’t do it without your help. So many of you told us what it’s like to living with a rare skin condition and we were – and still are – inspired by your experiences. Scroll down to read all the neat stories and see photos from people in our community.
You can still share your story with us here: https://registry.pachyonychia.org/s3/Share-My-Story .
If you have a variant in a PC gene (K6a, K6b, K6c, K16, K17) or in another gene like AAGAB, TRPV3, DSP, DSG1, GJB2, GJB6, K1, K9, RHBDF2 (and more!), you’re part of an exclusive group – YOU’RE RARE! If fact, we would love more stories from those in our registry who do not have PC but a similar condition. So why not share what makes you unique?
It only takes a minute or two to tell your story and let the world know what living with a rare skin is really like because for us, Rare Disease Day is every day!
What is the official Rare Disease Day?
It is a time when people all over the world come together to shine a spotlight on diseases like PC that don’t get the attention they deserve.
Developing treatments for a rare disease can be an uphill battle. Research, testing, drug trials — these things are very expensive. If a disease doesn’t affect enough people (i.e. there’s no potential for profit), nobody with deep pockets wants to make that kind of investment.
That’s why a global event like Rare Disease Day and sharing our stories is so important. It helps us raise awareness of diseases that no one would know about otherwise. Thanks for joining us in highlighting the rare and unique people we are!
Rare Disease Day Stories from the PC Community
My Story: Astrid Santiago Santos 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 mother herself, and…
My Story: Jane Santos 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 determination…
My Story: Dorinda 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 importance of having…
My Story: Paul 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 pretending… but you’re the only one who can…
My Story: Bertha Felix 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 forward. “Painful…
My Story: Niam 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…
My Story: Vanessa 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…
My Story: Krew 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…
My Story: Eliza Sharing my story for Rare Disease Day “There are many symptoms associated with PC, but I just want to touch on two aspects, invisible and unpredictable. There are many disabilities and disorders that are considered ‘invisible’, that doesn’t make them any easier to live with. I live with pain every day and managing…
My Story: Linnea Sharing my story for Rare Disease Day When and how you were first diagnosed and how did that feel for you? As an adult. After being married and having 2 kids with it my husband wouldn’t give up. I’d long lost hope of finding anyone like me let alone a diagnosis with what…
My Story: Raquel Reis Sharing my story for Rare Disease Day “Tenho 54 anos e somente aos 44 anos descobri este programa e finalmente soube qual doença eu tinha. Eu achava que era a única e que herdei de algum antepassado. Foi uma luz, uma esperança de cura ou de pelo menos sentir menos dor e…
My Story: Rachel Gribbins Sharing my story for Rare Disease Day “I was first diagnosed with PC when I was a baby. My parents had no idea what was going on, my nails turned black, they started seeing all kinds of doctors and finally found PC Project. I have always felt embarrassed of my disease and…
My Story: Briannan Year-End Message to my PC Family Every step I take feels like walking on broken glass. That’s my daily reality as a mom living with Pachyonychia Congenita (PC). Three of my young daughters also have PC, so this condition touches nearly every part of our family life. Mornings are the hardest. Like any…
My Story: Ashley Sharing my story for Rare Disease Day “I was first diagnosed with PC at the age of 28. I was originally told our family had a different rare disease. Finding out I actually had PC was emotional. I was happy to finally have a clear diagnosis. To be honest, living with PC has…
