Pachyonychia Congenita (or PC) is not just another chronic disabling pain problem for which there is no cure. This disease is personal, because my younger brother was born with it. His name is Lyle.

Most people have never heard of PC. It is another one of the invisible chronic pain disorders that causes incredible suffering, which no one who doesn’t have the disease can imagine. There has been almost no research into finding a cure, because so few people know about it. Therefore, I’d like to change that and make people aware of it.

What Is Pachyonychia Congenita (or PC)?

So what is PC? According to a website that acts as a clearinghouse of PC-related information for patients, researchers, and clinicians, “PC is an ultra rare, autosomal dominant, hereditary, keratin disorder that primarily affects the skin, nails, and mucosa.” While it doesn’t affect how long you’ll live, it does affect how well you’ll live. Almost all of the patients with PC are in constant pain.

PC is extremely rare, and the genetic lightning bolt struck Lyle with it.

As a child, my brother was unable to do normal activities, because his feet would create blood blisters if he walked 100 yards. Sometimes, the blood blisters would form beneath a callous and, therefore, they’d be almost unnoticeable to the observer. It was excruciatingly painful for my brother. Even walking 20 feet on hot cement would nearly make him a cripple. His hands would blister as well with repetitive motion and pressure. His type of PC is called epidermolysis bullosa. He is no better today than he was as a child.

Since PC is so rare, few doctors have ever cared for a patient with the disease. The best that PC patients can hope to do is find a doctor they trust who will work with them, keep them informed, and update them about new treatments as they’re made available. A primary care physician who knows a PC (or any patient) well may be able to offer ideas that are specific to treating that individual.

For example, my brother has spent his whole life searching for the best shoes and socks that would minimize the heat and friction to his feet. A physician who understands can help by providing handicap parking stickers, but there are very few medical treatments physicians can offer.

The Stigma of Pachyonychia Congenita

One of the most visible signs of PC is a thickening in the nails. People often misinterpret that symptom as nail fungus. It can strike them as “grotesque,” and they can stigmatize PC patients or provide unhelpful advice: “Why don’t you use nail fungicide? My grandfather had that problem, and it worked for him. And, by the way, you’re not going swimming in the public pool until that clears up, are you?”

In addition to blisters that are often under calluses on the soles of the feet, a white film on the tongue and inside of the cheeks, bumps around hair follicles, and cysts of different types in various areas of the body can add to a person’s disability. These symptoms can be confused with other conditions, or just chalked up to a normal variance, but it is now possible to do genetic testing for the disease.

As pachyonychia.org reports, “The specific gene and specific mutation involved affects the disease condition for the PC patient. These different types of PC are properly classified as PC-K6a, PC-K6b, PC-K6c, PC-K16 and PC-K17 (related to the affected keratin gene where the mutation is located).”

As with all chronic pain conditions, PC causes more than just physical discomfort. It can lead to emotional pain, too, because few people understand the extent of the agony that patients suffer. Also, because PC patients can’t be cured, their spouse, child, friend, neighbor, or employee can get tired of hearing about the pain. In their innermost thoughts, they expect PC patients to just “suck it up” and deal with it.

Constant pain is a thief that steals your ability to live a normal life. Incurable pain, which is what PC causes, makes it impossible to “keep a stiff upper lip, look on the bright side, stay optimistic,” or to take whatever other banal, trite advice people trot out in place of offering empathy and compassion.

Why You Should Contact the Pachyoncynia Congentia Project

The Pachyonychia Congentia Project is working to find a cure. If anyone feels they have the disorder, they can be genetically tested free of charge. The Pachyoncynia Project has created a registry for people with the disease. The Project is connecting people with the disease to researchers, and other people with the disease, throughout the world.

Here’s another reason why you should contact the Project if you think you may have the disease or know of someone who does: if there are enough people registered with the Project, funding for research should be easier. To some degree, the healthcare community’s responsiveness to a disease is a numbers game that depends on convincing researchers, Pharma, and payers that enough people care about it.

I’m hoping to raise awareness of the disease, because that is the first step to finding treatments and, potentially, a cure. With heightened awareness, there is hope for even rare diseases such as PC.

You’ll recall that, in 2014, the Ice Bucket Challenge created buzz about ALS. In that case, that awareness has been credited with the fundraising that enabled the discovery of a gene that may be the most common cause of ALS.

I want that hope for my brother and for everyone else who suffers from PC, and for those who care about them.

Purchase my book The Painful Truth: What Chronic Pain Is Really Like and Why It Matters to Each of Us (available on Amazon) or read a free excerpt here.

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Copyright 2016, Lynn Webster, MD