Ashley was in every respect a normal child when she was born, except for the big toe of each foot. The big toes were crooked, but none of the doctors who saw Ashley at that time had indicated that anything was seriously wrong. Instead, Ashley was fitted with braces and prescribed a routine of physical therapy to try to straighten her toes. It was only years later that we learned the problem with her toes was a sign of FOP.
When Ashley was around 6 years old she broke her leg in a skiing accident. The orthopedic surgeon who treated her for the fracture noticed unusual growths on her leg and hip bones. We were referred to a specialist at the Hospital for Special Surgery who diagnosed the growths as multiple osteochondroma, a bone condition where bone tumors grow at the growth plate areas. This condition must be monitored for life as the bone growths can possibly break off, become so large that they cause nerve impingement, muscle and tendon irritation, and in later years, possibly become cancerous.
The osteochondroma required Ashley to be seen at the Hospital for Special Surgery and Sloan-Kettering every 6 months for a full series of skeletal x-rays and thorough evaluation by her treating doctors. Through it all, and long before her diagnosis with FOP, Ashley participated in many activities growing up including judo, tae kwon do and ice hockey, but she especially enjoyed playing soccer. As a family we were very active and were either hiking, camping or skiing.
Around 6 months ago Ashley started having problems with her ankles. Virtually any type of physical activity made her ankles swell and caused pain when she walked or even stood up. After multiple visits to local doctors, who could find no apparent cause for the pain, we went back to HHS for a consultation with her specialist. It was discovered that one of the bone tumors Ashley had was growing larger and was irritating the muscle in the ankle joint area. Ashley's fears that her bone tumors would eventually limit her activity were now compounded by the fact that she would have to undergo a complicated surgical procedure to remove one of those tumors. So complicated, in fact, that her specialist referred us to yet another specialist at HSS to perform the surgery.
We then met with an orthopedic surgeon specializing in foot and ankle surgery who told us that he had, by chance, seen a presentation by a Dr. Frederick Kaplan, and after noticing Ashley's malformed toes suspected that she may have FOP. At the time this caught us off guard as we had been to multiple doctors and no one ever considered this diagnosis. We were went to see Dr. Kaplan at the University of Pennsylvania Medical Center, for an assessment.
Dr. Kaplan is currently conducting research into a treatment for FOP at the University of Pennsylvania, Center for Research in FOP and Related Disorders. Dr. Kaplan is by training an orthopedic surgeon and a pioneer in the molecular genetics of heterotopic ossification. Newsweek recognized Dr. Kaplan in 2006 as one of the 15 people who make America great, and marked the significance of his work in FOP by noting that "the disease was so rare, nobody wanted to deal with it until he came along."(http://www.newsweek.com/giving-back-awards-15-people-who-make-america-great-112719) .
One day in 1989, Dr. Kaplan met a child with FOP and became so motivated to uncover the mysteries of this disease, and to help those afflicted by it, that he began his research into FOP. Dr. Kaplan's research led to the discovery of the FOP gene, the description of the molecular pathophysiology of skeletal metamorphosis in humans, and the discovery of progressive osseous heteroplasia (another disorder of heterotopic ossification), including its causative gene and pathophysiology. We are hopeful that Dr. Kaplan and his team's research will lead to the discovery of a treatment for FOP that will help people like the child whose suffering motivated him that day in 1989 - and people like our daughter, Ashley.