A Parent's Perspective

EARLY CHILDHOOD (LIFE BEFORE FOP)

Ashley was born in 2002 in Cary, North Carolina. Like most children with FOP, Ashley was in almost every respect a normal child at birth except for the big toe of each foot, which were malformed. It appeared as though Ashley was born with bunions. In fact, the doctors diagnosed her with "congenital bunions". When she came home from the hospital she was fitted with toe braces and prescribed a routine of physical therapy to try to straighten her toes. It was only later that we learned that the malformed toes serves as an important early sign of FOP.

THE PATH TOWARDS DIAGNOSIS

When Ashley was six 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 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 limit joint movement and exert pressure on nerves and surrounding tissue and, in later years, may become cancerous.

This condition required Ashley to be seen at the Hospital for Special Surgery (HSS) and Memorial Sloan-Kettering Cancer Center on a regular basis. Through it all, and long before her diagnosis with FOP, Ashley participated in many activities including judo, tae kwon do and ice hockey, but she especially enjoyed playing soccer. As a family we were very active and often hiked, camped and skied together.

Recently Ashley started having problems with her ankles. Any type of strenuous physical activity made her ankles swell and caused pain. After multiple visits to local doctors, who could find no apparent cause for the pain, we went back to HSS for a consultation with her specialist. An MRI revealed one of the tumors was growing larger and 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 followed up with the orthopedic foot surgeon who after examining Ashley’s feet suspected she may have FOP. Through chance, the specialist had seen a presentation given by Dr. Frederick S. Kaplan, of the University of Pennsylvania, a pioneer in FOP research. The doctor advised that no surgery could be performed until FOP was ruled out. (Due to the nature of the disease any invasive surgery could trigger explosive new bone growth.) This caught us completely off guard as we had been to multiple doctors and no one ever mentioned FOP. (As we would learn later, that due to the rarity of this disease misdiagnosis of FOP is the norm.) After going home that day and researching FOP, we were devastated, we cried, we prayed, we did not believe this was possible. That night we called Dr. Kaplan. Without hesitation Dr. Kaplan told us to come to Philadelphia and see him. Two weeks after our meeting with Dr. Kaplan, we received confirmation through genetic testing, that Ashley had FOP. In an instant, Ashley’s life changed forever.

LIVING WITH FOP

Due to the unpredictable nature of the disease and the lack of a cure, Ashley must severely limit her physical activities and avoid any situation that might expose her to the risk of being injured, which could trigger a flare-up. These new restrictions were very difficult for Ashley to accept. Imagine the effect this news would have on any child, and then multiply that effect for a fearless energetic girl who loved playing sports and delighted in outdoor adventures.

Thankfully, nothing in Ashley's life to date has triggered an incident, and the bumps and bruises in her earlier years have not resulted in new bone formation. Other children have not been as fortunate and, because of invasive procedures performed before a proper diagnosis of FOP, many have been left immobilized for life. Nevertheless, Ashley’s future is uncertain. A flare-up can occur overnight and there is no medication or therapy that can prevent this. Only through continued research is there hope that a cure will be found - for Ashley, as well as for others with FOP.