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 her one-year-old son has inherited the same genetic mutation. Of her family’s five nieces and nephews, three have already begun showing symptoms.
“PC has shaped generations of my family,” Astrid says.
Growing Up with Pain—and Questions
As a child growing up in Texas, Astrid didn’t fully understand what PC was. She knew it was rare. She knew there was no cure. More than anything, she knew it hurt.
She grew up hearing her condition described as palmoplantar hyperkeratosis—the thickened skin on her feet that made walking painful and often difficult. Her mother cared for her feet the same way she cared for her own, trying to protect them from injury and discomfort. It wasn’t until Astrid experienced severe flare-ups herself that she truly understood why.
Doctor visits often left her frustrated.
“They’re just calluses,” she recalls being told. “If we remove them completely, you’ll feel better.”
But they weren’t just calluses.
“They were protective armor,” Astrid explains. “They were a barrier shielding the fragile skin underneath from wounds and infections. Without them, I couldn’t walk.”
When calluses were trimmed too aggressively, the result was often days of severe pain, sometimes worse than before the appointment.
Like many children with rare diseases, Astrid struggled with feeling different. Running felt impossible. Jumping hurt. Even walking through school hallways could be exhausting.
Classmates noticed.
Why do you walk like that?
What happened to you?
Rather than explain, Astrid often invented answers.
“I hurt my knee.”
“I twisted my ankle.”
It felt easier than saying, “I have a rare genetic condition.”
The Challenges Others Don’t See
While the physical pain of PC is difficult, Astrid says some of the greatest challenges are the ones people can’t see.
Living with a rare disease often means becoming your own advocate in a world that doesn’t understand what you’re experiencing.
Employment has been particularly challenging. Many jobs require standing for long periods of time and explaining that she cannot remain on her feet for an entire shift can quietly limit opportunities before they even begin.
Medical misunderstandings have created obstacles as well.
In 2019, Astrid experienced numbness in her legs. Because healthcare providers knew she had a condition affecting her feet, her symptoms were quickly attributed to PC rather than being fully investigated.
The delay was frightening.
“Lack of awareness doesn’t only affect us emotionally,” she says. “It can affect us physically.”
For Astrid, living with PC has meant more than managing pain. It has meant educating healthcare providers, correcting misconceptions, and repeatedly explaining a condition that most people have never heard of.
Finding Community
For many years, Astrid and her family felt alone in their experience.
That changed when her son was diagnosed and she became more connected with PC Project and the broader PC community.
“For the first time, I felt that we weren’t just ‘rare cases’—we were seen.”
Through PC Project, Astrid found reliable information, support, and something she hadn’t realized she was missing…connection.
She discovered a global community of individuals and families facing the same challenges. She gained access to resources that many local healthcare providers simply didn’t have. Most importantly, she realized her family wasn’t isolated.
They belonged to something bigger.
Looking Ahead
Today, Astrid hopes for better treatment options and ultimately a cure. She hopes for greater awareness within the medical community so children like her son receive accurate diagnoses, knowledgeable care, and understanding from the start.
“My hope is that my son will grow up in a world where doctors recognize PC immediately, understand its complexity, and know how to manage it appropriately.”
The little girl who once hid her diagnosis now speaks openly about her experience.
“PC has taught me strength I didn’t know I had,” Astrid says. “It has forced me to advocate, to endure, and to grow. It is part of my story—but it does not define my worth.”
For Astrid, PC may be a family legacy. But so is resilience.
And that’s the legacy she hopes to pass on to the next generation.
