Bob's Story Living with Pachyonychia Congenita

My name is Robert Santos Jr and I am one of only around 2500 confirmed cases in the world of Pachyonychia Congenita, or PC for short. When I was growing up my mom told me the story of how I was born with the two front bottom teeth and the confusion that caused in the delivery room. My parents weren’t sure what to make of it at the time and the challenges that awaited me in my life, but they soon manifested themselves. My nails began to discolor and thicken and they saw countless doctors who tried numerous treatments to try and resolve the dystrophy in my nails. Finally a pediatric dermatologist at Children’s Hospital of Philadelphia was able to confirm the disorder I was born with. While the diagnosis was a relief, the information that was available at the time was scarce on the disorder. I was given the paperwork from Children’s Hospital diagnosis just a few years ago by my mother. The yellowing dozen or so pages contained every fact and listed every syndrome that they knew at the time. What the pages didn’t contain was a guide on how to cope with the disorder, or how to prepare for a world that would be so difficult to fit into being different.

I went to a small catholic grade school in Philadelphia. My graduating class only had 18 students and that number rarely wavered through the years. While the familiarity could have been seen as a positive it also brought challenges as my disorder presents so many outward signs. My nails were thicker and more discolored in those early years, made worse by my habit of chewing them down almost to the cuticle, which also led to infection from the nail bed being exposed. My hair was fine and wiry and was hard to tame. The pores of my skin would become blocked in some areas of my body and often would become infected or painful. My podiatrist did his best to trim and shape my toenails but they grew back the same every time. In later years blisters would form calluses which would have to be shaved down and cause significant pain. There were so many outward signs that made it so easy for kids to point and ask uncomfortable questions. So many answers I had difficulty expressing because I was so shy and put off being put in the spotlight. Loneliness, even in a room of people, is certainly possible.

Thankfully I wasn’t always alone. My family and extended family were always supportive of me. I had a few friends in other grades in my grade school and in high school that number greatly increased. In high school, the school band and the theater program became somewhere that being “different” meant something oh so different than back in grade school. Activities brought me out of my shell. Music and theater allowed me to express what I couldn’t say, to dream what could be possible and to take the spotlight when for so long I never wanted to be the center of attention.

High school moved on to college. Music followed me along the way, music ensembles and the marching band became standards of my curriculum. Marching band presented a new challenge when the nerve pain from PC began to sideline me. My calluses weren’t meant for the marching life at times and the pain made the performances that much more difficult. Occasionally complications did sideline me from performances altogether. In my time studying classical guitar, however, I found something from PC that I never expected. A benefit. I was studying classical guitar and therefore had to grow my nails long, something a nail-biter didn’t think was possible. The added thickness of my nails from PC was not a hindrance at all. In fact, the tone and the volume I was able to attain through my thickened nails were the envy of the guitar ensemble and my instructor often marveled at how lucky I was to have such an unexpected benefit or something that I always saw as a curse.

These experiences are meant to show that the isolation I felt as a child was temporary. That being different from others is not the end of the world that I felt when I was so young. The questions became less frequent and the answers became easier through repetition and through my own research. But those challenges and those experiences would prepare me for the greatest experience of them all. Being a father. Growing up I had decided at a relatively young age that I would not have children. The challenges, the isolation and the pain were all factors in making that decision. Then came Shannon. A friend in my life from throughout the narrative I have mentioned, Shannon and I had met at the age of 4 through our parents being friends before we were born. In our mid twenties we began to date, we then were engaged and in January of 2020 we were married. I had expressed early in our relationship my feelings on parenthood. Shannon accepted what I had said and understood which was something I fully appreciated. But Shannon also brought up that, were I to be a father, at least my child would have me. They wouldn’t be alone, they’d have someone who knew exactly what I was going through in life and how to cope. My attitude on parenthood suddenly changed. Time passed and our oldest daughter, Felicity, was born. And she was born with two little teeth. A moment of dread came. And a moment of dread passed. I looked at Shannon and knew that, at the very least, our little girl was not alone.

Felicity and I have Pachyonychia Congenita. We have the genetic modification k6c, a small section of the small population of patients who have PC. We have PC Project, a non-profit based on the support and research on PC. We have a podiatrist who sees us once a month for routine treatments. We have Shannon. We have Felicity’s younger sister Adeline, who does not have PC. We have one another. I look at my daughter's nails. I look at her feet. I look at her sections of bumpy skin. I look at her fine and frizzy hair which so closely resembles my hair. I look at her and I know she will be okay. She has a family who loves her. She will make friends and find activities and groups she will thrive in. She will have hard days and she will have challenges. I know that all of these will come and go and she will grow and learn and I know, no matter what, that she will be Felicity. I know this because I am not k6c, Pachyonychia Congenita. I know this because I am me.