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 mom, I’m rushing to get the kids ready — making lunches, doing hair, finding shoes. But every step I take is filled with pain. By evening, standing in the kitchen to cook dinner can feel impossible. It’s not that I don’t want to… it’s that I can’t physically stand because my feet feel like they’re on shards of glass.

My girls, though still small, already know this pain too. Some days, even though school is just a few houses away, we drive because their feet hurt too much to walk. And something as simple as finding socks and shoes that don’t hurt can be a struggle.

Living with constant pain takes a toll mentally, too. I used to run, play sports, and live for the outdoors. PC took that away. But I keep going for my daughters. I want them to see that even with limitations, life can still be beautiful and full of hope.

Finding PC Project changed everything for us. For the first time, I had proof of what was causing my pain through free genetic testing. We discovered a community of families like ours. My daughters met other kids with PC and realized they weren’t alone. My husband began to understand our pain better through the stories of other patients. PC Project has given us knowledge, community, and hope.

The truth is, I dream that one day my daughters will take their first pain-free steps.

With the support of this community, I believe that’s possible.

With gratitude,

Briannan Buchta
PC Patient and Mom of Three Girls with PC

Sharing my story for Rare Disease Day

“I’ve always known what I had was genetic. We inherited our calloused feet and thick nails from my dad. My mother had heard the term “pachyonychia” from a doctor from when I was a baby but had lost contact. (I honestly thought she was crazy.) As I entered my adulthood, I took medical terminology and realized she was onto something. In 2016, I googled and found the PC Project that helped me confirm the exact diagnosis through DNA testing. At that point, I finally felt validated. I felt like all the pain wasn’t all in my head and I can finally provide proof of the rare disease I was born with. Although I had some family members with my condition, I didn’t feel alone anymore.

Living with PC can be very difficult and frustrating because there is so much more affected than what the eye can see. I feel like our pain isn’t validated because all other people can see is our thick nails and calloused feet. I’ve had to learn to adjust my physical activity and to not “over do” it, or else I won’t be able to walk. I’ve had to modify exercising, my career, and other extracurricular activities because of my PC pain. It’s also hard to find help when there are no known treatments or cures.

Living with PC has taught me to be resilient. I’ve learned to adapt and still live out my life the best I could with what I have. I choose to be happy and not let PC hold me back. If there is a will, there is a way (through modification of course.)

The biggest misconception about PC is when people see my nails and think that it’s a fungus, or that they got smashed. If I mention callouses, they think it’s a callous that everyone gets and they don’t understand the pain associated with it. They don’t understand that it affects the skin as a whole. PC is more than feet and nails – it’s wherever the keratin is, being that it’s a keratin gene mutation.

I know there are other rare skin conditions out there. It would just be a relief if more education about PC was out there for the public, and physicians so they can help this small, rare population better.”

-Briannan, PC Patient

When and how you were first diagnosed and how did that feel for you?

I’ve always known what I had was genetic. We inherited our calloused feet and thick nails from my dad. My mother had heard the term “pachyonychia” from a doctor from when I was a baby but had lost contact (I honestly thought she was crazy). As I entered my adulthood, I took medical terminology and realized she was onto something. In 2016, I googled and found the PC Project that helped me confirm the exact diagnoses through DNA testing. At that point, I finally felt validated. I felt like all the pain wasn’t all in my head and I can finally provide proof of the rare disease I was born with. Although I had some family with my condition, I didn’t feel alone anymore.

What is it like to live with your skin condition? How has it impacted your life, both physically and emotionally?

Living with PC can be very difficult and frustrating because there is so much more affected than what the eye can see. I feel like our pain isn’t validated because all other people can see is our thick nails and calloused feet. I’ve had to learn to adjust my physical activity and to not “over do” it, or else I won’t be able to walk. I’ve had to modify exercising, my career, and other extracurricular activities because of my PC pain. It’s also hard to find help when there are no known treatments or cures.

What has living with your rare skin disease taught you?

Living with PC has taught me to be resilient. I’ve learned to adapt and still live out my life the best I could with what I have. I choose to be happy and not let PC hold me back. If there is a will, there is a way (through modification of course.)

Are there any misconceptions about your condition that you’d like people to understand better?

The biggest misconceptions when people see my nails is that it’s a fungus, or they got smashed. If I mention callouses, they think it’s a callous that everyone gets and don’t understand the pain associated with it. They don’t understand it affects the skin as a whole. PC is more than feet and nails, it’s wherever keratin is being that it’s a keratin gene mutation.

What more do you want to say about your rare skin disease?

I know there are several rare conditions out there. It would just be a relief if more education about PC was out there for the public, and physicians so they can help this small, rare population better.