No one knows what your pain feels like because you look like a normal person

Living with PC – June 2020

From the time I was born, my mom and dad never tried to put the brakes on me in terms of walking, running, or playing games. We had a neighborhood full of kids who ran through the streets and parks all day and night. My dad had the same disease all his life. My grandmother took him to see many doctors when he was growing up to see what caused his condition. There were never any answers. Hey, it was the mid to late 1930s. Dad passed away in July of 2001, never knowing what caused his feet to feel so bad.

Up until the age of eleven, my dad would trim my feet. I was ticklish, so his iron grip was necessary, both to keep my foot still and maintain control. So he could use the single-edge blade effectively without slicing anything important off. After that, he allowed me to trim my own feet.

Both mom and dad tried to discourage the shoe salesmen from putting the shoehorn anywhere near my foot. Hey, those were the old days. Today you can walk into many shoe stores and try on footwear without somebody tracking you to make a sale. Better yet, you can walk around on all of their different floor surfaces to thoroughly examine the sneakers or shoes. Today, with the wealth of choices, we have options. Even dress shoes are comfortable. Because of our unique foot structure, it is vital to know your particular foot structure. For example, I have a high instep. I also look for a flat interior, with no little hills inside the shoes. Wearing a shoe that’s not flat may cause me to develop a new callus. Who needs that?

Through the years, I continued to drive my feet pretty hard. I could run and play games, but I knew very early on that I had limitations. Getting past those boundaries always caused excessive pain and discomfort. Was it worth it? Well, in the end, it is a lifelong learning experience. You want to participate, but you need to know your feet and what you can take. Today, I know that I can stand for two hours before I need to get off of my feet. It is not always in your control, but you must take all of this into consideration. Knowing your feet well helps you to get through the day. I knew I could never have a career in the military or serve as a fireman or policeman.

At eighteen years old, I discovered a beautiful thing. We played street hockey with roller skates. I remember the skates bothering me because there was lots of vibration which impacted the calluses. But our game plan was to try ice skating. I still remember going to the ice rink in Center City, Philadelphia. We rented skates and tried our best for about an hour. We had figure skates that were not particularly comfortable, but the sport was fun, and I wanted to pursue playing the game. I purchased twenty dollar ice hockey skates. All bets were now off. Not only were these skates solid with great support, but they felt so comfortable. I remember skating non-stop at the University of Penn Ice rink for close to two hours. What a rush that was.

In truth, I played competitive ice hockey for 23 years. I was as close to normal as I ever imagined. I could compete with the best players, and we won ten championships in the years that I played. You may be asking yourself, how is that possible? Consider this: your foot is locked into a solid skate, having no movement. So your foot doesn’t bend at all. There’s no pressure on the calluses. It’s all distributed through the skate blade, which sits in the center of the skate. There’s no torque on your feet, you just glide on the ice. I could stop quickly and even jump up and down without pain. The skates must be tight to work correctly, and you need to wear a thick sock, but boy did this open up my eyes.

Yes, this disease is a handful, but look at all we need to be thankful for. Our community is moving forward, supported by warriors like Mary, Janice, Holly, and all the doctors who are searching for an answer. We now have clinical trials and companies that are researching to find medicines that may provide relief and possibly a cure. It’s all good!

My Story June 2013

I have an ultra-rare disease.  It is called Pachyonychia Congenita (PC) and there are only about 1000 patients world-wide who have been identified as having the disease. I have had PC my entire life. I am now 59 years old. My sister and I both inherited the disease from my father who passed away in 2001 at 73 years old.  He was the real trailblazer as my poor grandmother brought him around to many doctors to try and figure out why his feet were so callused.  My grandparents did not have the disease and my father had three siblings who were also free of the disease.  He died having absolutely no clue as to why he was in such pain. My sister has two children. One has PC (my niece), and my nephew is free and clear. My nephew’s two children are also free and clear. The gene cannot be carried on if you don’t have the defective gene.

Unlike my father, my sister and I now know a lot of the answers thanks to the PC Project, which is a group founded by Mary Schwartz out of Utah. Mary’s daughter-in-law has the disease. Mary was very concerned about her grandchildren having to grow up in pain much like Mary’s daughter-in-law.

In short, we have a genetic mutation in the Keratin gene that affects the way our skin cells bond. The fact of the matter is that they don’t bond. Our skin cells resemble single nuclei that have no structure to bind them together. Normal skin cells have a lattice structure that encases the nuclei. This structure gives your skin its strength. People with PC do not have this lattice structure and that is why the blisters and calluses form. Our skin cannot withstand our own body weight, no matter how much you weigh.

I remember pain when I was three years old. Getting dress shoes for school was a terrible experience as the salesmen used to use a tool called a shoehorn to force your foot into the new shoe. I still remember my parents begging the salesman to let me put my own foot into the shoe. How bad your feet get is really determined by the geometry of your feet. If you have flat feet your entire foot may be covered in a single large callous as the surface area of a person with flat feet completely touches the ground. A person with a big arch will have the middle part of the foot protected as its surface does not touch the ground. These calluses grow and can be as thick as a half inch if not treated. The only treatment I know is to trim the calluses with single edge razor blades. It doesn’t hurt to cut them but you must be careful not to cut yourself. There is real living breathing skin below these calluses and you can cut yourself quite easily if you are not careful. I don’t like to be so graphic but it is what it is. God bless my wife for not screaming when she sees me do this. I have to cut them about every 10 days or so.

Many doctors and dermatologists have never met a PC patient and we are told it is so rare that many PC patients will never meet another patient with PC. I was lucky enough to meet 47 patients two years ago at a symposium in Philadelphia held by the PC Project. There were 5 local PC patients from the Philly area. It was a weekend of discovery, lectures, pain studies, and camaraderie which left me feeling very fortunate in my own situation. I saw many young children acting like children and trying to be normal but I also know the pain they are feeling. There are others in wheelchairs. That’s got to be a tough thing for the parents to handle. My parents never held me back and did not discourage me from trying anything. I will be forever grateful for my life was filled with baseball, basketball, football and amazingly, ice hockey. It wasn’t easy to do. Every step absolutely hurts. I always say I abused my feet because I pushed them to their absolute limits. I paid dearly for it on the days following my sports events as I limped about until they settled down. My parents let me set my own limits and I will never forget that. For 59, I’ve had a full life.

To get a sense of the reality of this disease, I always say that in times of peril or danger we are at a severe disadvantage. I can run for about a block.  At that point, my feet are burning so badly I can hardly stand. Growing up in Philadelphia presented many challenges. Neighborhoods weren’t always the best and sometimes you had to attend schools in really bad neighborhoods. That’s where the danger comes in. You realize that you are handicapped and very vulnerable. It is not a pretty picture and I don’t like to paint it but it comes with the territory. I cannot stress enough that we take a lot of things for granted, like protecting ourselves and keeping ourselves out of danger. With this disease, you must always be aware of your surroundings. Of course these were part of the early years of my life.

Overall, I’ve been lucky in my life. I was able to do far more things than either my sister or my dad were able to do. To this day, my sister really struggles to get up and down steps. She really has to limit her walking and cannot stand for long periods of time. Like her, I have my limits. If I stand for over two hours I pay for that later in the evening as the pain will transfer to my knees while I sleep. That is the body’s way of telling you that you did too much. Having pain in your feet causes you to adjust your body to alleviate the pain. You don’t even realize that you’re doing it, meanwhile that adjustment leads to problems in other areas like your knees or your hips. It’s similar to baseball players when they change their mechanics or try to compensate for some injury. It ends up screwing up something else.

I can predict bad weather such as rain or snow. Sometimes this occurs two days in advance. What happens is your skin gets real taut. The nasty part is the normal skin adjacent to the callus gets real sensitive. You actually see a ring of red color form around the perimeter of the callus. This is the worst time as the callus tends to pull at the normal skin. My method to overcome this is to soak my feet before I put on shoes as this tends to soften the skin. Softening the skin can take up to twenty minutes so you have to account for that if this occurs before you go to work.

These are just some of the realities of this disease. This disease is confusing because you have good days and bad days. If you’re on a bus, sometimes you are expected to give up your seat for an elderly person. No one knows what your pain feels like when the bus stops because otherwise you look like a normal person. Your feet are covered by shoes so no one can tell anything is wrong. When I met the other PC patients, I immediately recognized we all have a certain shuffle when we walk. That is everyone compensating for the pain they are feeling. Anyway, that is my story.  I hope that the PC Project will continue to attract doctors that are willing to research and look for ways to help those who have it. It is especially important for the future generation of patients.