Three generations of care for rare genetic disorder
A father, daughter, and grandson share pachyonychia congenita, a rare genetic condition — and the same thoughtful dermatologic care.
I live with a rare genetic condition called pachyonychia congenita, which makes my toenails and fingernails grow abnormally thick and causes painful callouses and blisters on my feet. I need to limit my walking, because taking even an extra 20 steps a day causes increased pain and can cause blisters to form.
I was diagnosed at age 16 by Dr. Jack Lesher, who also diagnosed my father, then in his 40s, with pachyonychia congenita. My son was diagnosed at birth. For almost 30 years now, our family has been treated by our dermatologists, Dr. Lesher and Dr. Loretta Davis.
While there is no cure for pachyonychia congenita, Drs. Davis and Lesher have helped us manage it as best we can, from trying new treatments to helping us get handicapped parking and other special accommodations. Throughout it all, they’ve always put our family first, treating us kindly and with thoroughness. They’ve also helped build awareness of pachyonychia congenita and invited us to present as case studies at dermatology conferences, so other dermatologists can better recognize and manage pachyonychia congenita in their patients.
Growing up with such a rare condition is challenging. I went through childhood without ever meeting someone else with pachyonychia congenita, other than my father, which really takes a toll — you feel different and out of place. The physical effects can be debilitating, but the psychological aspects of it are just as bad. Fortunately, we eventually connected with the Pachyonychia Congenita (PC) Project, a support group for people with pachyonychia congenita.
Since connecting with the PC Project, our family has been looped into an incredible community of people like us who can understand and empathize with our lives, as well as researchers who are trying hard to find better treatments and ultimately a cure.
Pachyonychia congenita is rare and challenging, but with Dr. Davis and Dr. Lesher, we’ve never felt overlooked.
The dermatologist's perspective
“It is an honor to treat Buff, her father, and her son. The doctor-patient relationship is always special, but it is especially rewarding to care for multiple generations of such an inspiring family. After 25 years of caring for them, I find it is almost like caring for my own family. While there is no cure for pachyonychia congenita, we have worked as a team to help manage their condition and limit its effect on their daily lives. I am proud of how far we have come. Buff and her family are very generous with sharing their story. Our dermatology division has learned just as much from Buff’s family as they have from us. They have helped an entire generation of doctors improve their care of pachyonychia congenita.”
─ Loretta Davis, MD, Medical College of Georgia, Augusta University
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