On April 3, 2001, the Weldon's' worst fears came true; doctors confirmed FOP, a genetic disorder characterized by the abnormal growth of bone in soft tissue. FOP is the only known condition where one organ can transform into another, where muscles, tissues, and ligaments develop into bone. The disease, generally diagnosed in childhood, progressively disables the body as new bone fuses joints and creates immobility.
Since her diagnosis in 2001, the now-17-year-old have already faced a number of physical changes that have significantly impacted her young life. She can no longer lift her arms up or bend or sit comfortably. Her right elbow is in a locked position. She has only limited movement from her neck to her hips and a bony back. She needs assistance with dressing and combing her hair. Her movements become more limited as the years go by. Though her body is slowly failing her, she never complains. Whitney's FOP prohibits her participation in most physical activities, not only due to the rigidity of her body, but because trauma can cause more bone to ossify, worsening her condition. Yet, the happy-go-lucky girl that once enjoyed numerous sports, swimming in the ocean, and playing the trumpet has not lost her beautiful smile, her witty sense of humor, or her determination to succeed with every new adaptation. She laments the loss of each activity, but always picks herself up to face the next challenge.
There is currently no known treatment or cure for FOP and only approximately 700 confirmed cases of FOP worldwide of which 285 are from the US. Attempts to remove the excess bone result in even more robust bone formation. Because there are so few known patients, FOP children and their families have very few options. Since FOP may manifest differently in patients, no single protocol of care or treatment is currently available. With little knowledge about FOP currently available within the medical field, misdiagnosis is common, resulting in mistreatment that can be catastrophic and lead to progression of the disease. The future of FOP depends on basic scientific research to identify the genetics of the disease and its process, thus enabling scientists and physicians to devise effective treatments and eventually find a cure.
There is a tremendous need for FOP research funding. Currently, families independently raise 77% of all funding that supports FOP research at the University of Pennsylvania Medical School. The Weldon family has been extremely active in the fight against FOP. Through the International FOP Association and their Weldon FOP Research Fund (www.weldonfop.org), the Weldon family has raised awareness and millions of dollars for the FOP Laboratory at the University of Pennsylvania School of Medicine and become prominent advocates in the musculoskeletal community. Mrs. Weldon explains, "Most families that have a child with FOP are not in a position to run fundraisers and the 600 FOP patients across the globe are depending on the University of Pennsylvania to find a treatment – it is our and their ONLY hope."
Hope came with the discovery of the FOP gene in April of 2006. This discovery not only benefits the future of FOP, it also enhances the overall understanding of bone biology. The potential of harnessing bone creation could be helpful in treating fractures that do not heal, osteoporosis, congenital malformations, surgical spine fusions, and severe traumatic bone loss. Now, better FOP treatments are in the foreseeable future, and with additional research, finding a cure is now a possibility.