Holly LaPrade, a 45-year-old woman from the United States, is taking steps to raise awareness about fibrodysplasia ossificans progressiva (FOP), an extremely rare genetic condition. Her journey began at the tender age of 16 when she faced a significant health crisis that initially led doctors to suspect cancer.
:max_bytes(150000):strip_icc():format(jpeg)/holly-laprade-1-b20028be73894adc8863d6dd430839e7.jpg)
Prior to her diagnosis, LaPrade was enjoying a typical teenage life, filled with milestones such as obtaining her driver’s licence, starting a part-time job, joining her high school basketball team, and dating. However, following her involvement in sports, she began to notice alarming symptoms. “I experienced stiffness and a loss of mobility in my shoulders, neck, and back,” she recounted. Friends began to notice the stiffness in her neck, and she struggled to lift her arms, causing her increasing concern.
Eventually, her mother took her to the hospital, where medical professionals initially misdiagnosed her with non-Hodgkin lymphoma. “I underwent a barrage of tests and met with an oncologist, preparing myself for chemotherapy,” LaPrade recalled. After days of uncertainty, a biopsy finally ruled out cancer, yet doctors were still puzzled by the cause of her symptoms. It wasn’t until a week in the hospital that LaPrade received an accurate diagnosis: FOP, a condition characterised by the abnormal formation of bone in soft tissues such as muscles, tendons, and ligaments. This leads to the formation of what experts describe as a ‘second skeleton,’ which progressively restricts mobility.
Reflecting on the moment she learned about her diagnosis, LaPrade admitted that she had never heard of FOP before, and her primary concern was returning to her normal life. “On the night I went to the emergency room, I had a babysitting job, and I resisted my mother’s insistence to go to the hospital. I was eager to live my life without the burden of a diagnosis,” LaPrade explained. Nonetheless, she expressed gratitude for not having a potentially terminal illness.
The path to her diagnosis was fraught with complications, as several procedures—including a biopsy and spinal tap—can be exceptionally painful for individuals with FOP. “Our community advocates for greater awareness of FOP because trauma from unnecessary procedures must be avoided,” LaPrade said, noting that a simple examination of the toes can often lead to a proper diagnosis, as many patients with FOP have distinctive abnormalities in this area.
When LaPrade was diagnosed nearly three decades ago, there were no effective treatments available for her condition. “At that time, there were no options, and while I am an optimist, I never dared to hope for a cure in my lifetime,” she shared. Fortunately, the situation has changed dramatically in recent years, with the approval of several treatment options, including Atebrioz developed by Mirum Pharmaceuticals and Incyte. “The emergence of multiple treatments is a monumental leap for our community,” LaPrade stated, remarking on the progress made over 30 years.
Despite the advancements in treatment, living with FOP presents numerous challenges. LaPrade cautioned that the rarity of the condition can lead to feelings of isolation, as many people find it difficult to understand the daily struggles faced by FOP patients. “It affects not just our physical health but also takes a toll emotionally and mentally,” she admitted, reflecting on how the weight of her diagnosis can sometimes be overwhelming.
Nevertheless, LaPrade highlighted unexpected positives stemming from her experience, such as strengthened family ties and significant connections within the global FOP community. “Living with this condition has brought my family closer together and allowed me to form lifelong friendships with others who face similar challenges,” she noted, expressing her gratitude for the support of her loved ones, including her husband and stepson.
Today, LaPrade acknowledges the complexity of managing her health as FOP progresses with age, but she feels fortunate to have a milder form of the condition. Maintaining her independence remains paramount to her, and she continues to engage actively in her professional life, travel, and partake in various interests that enhance her quality of life.
For those grappling with life-altering diagnoses, LaPrade offers a simple piece of advice: “Take one day at a time, and cherish the positive moments that make life worth living,” she counselled. “Though challenging at times, I am grateful for the opportunities that life presents.”
LaPrade’s story is a powerful reminder of resilience and hope in the face of adversity, and her ongoing advocacy work aims to shed light on FOP and inspire others who may be encountering similar struggles.