Introduction
In a world of over seven billion people, there exists a rare disease known as Fibrodysplasia Ossificans Progressiva (FOP) or Fibrodysplasia Ossificans (FOB). Only 800 people out of the seven billion population are affected by this disease, with just eight cases reported in Australia. FOP is a condition where connective tissues and muscles gradually turn into bone, leaving sufferers with bodies that resemble mannequins. There is no cure for FOP, and most patients will be in a wheelchair by the age of 30.
Zach Armstrong: The Aussie Battler
Zach Armstrong, a seven-year-old boy from Australia, is one of the few individuals battling with FOP. Diagnosed at a young age, Zach's body has been through a rapid transformation due to this rare disease. Initially, doctors missed the simple sign that gave away the disease - his big toes. Later, a biopsy ordered to investigate another condition triggered a violent reaction in Zach's body, causing his bones to grow in abnormal places. Despite the challenges he faces, Zach remains determined and continues to live life to the fullest.
Louise Wedderburn: The Scottish Baker
In a small town in Scotland, nineteen-year-old Louise Wedderburn bakes with her mom, defying the limitations imposed by FOP. Louise's arms cannot bend, her knees are stiff, and her spine is locked, making even the simplest tasks a challenge. FOP gradually stiffens the bodies of its victims, leading to a loss of mobility. Despite these difficulties, Louise remains independent and determined to live life on her own terms.
The Master Key to the Skeleton
FOP is caused by a single genetic mutation, a one-letter change out of the six billion in the human genome. This mutation allows the body to turn one organ system into another, like a master key accessing different parts of the skeleton. This unique genetic change opens a trapdoor in evolution, giving researchers hope that by understanding and manipulating this gene, treatments can be developed not only for FOP but also for various other bone-related conditions.
Living with FOP
The journey of living with FOP is different for every individual. For Zach, misdiagnosis and mistreatment accelerated the progression of his disease. Eventually, his bones will suffocate his heart and lungs, with an average life expectancy of 41. Despite the hard days and the uncertainty of the future, Zach's parents remain grateful for their little boy. They cherish every moment and continue to support him in his daily activities.
Communicating Beyond Words
Zach, like many FOP patients, has lost his ability to speak due to the progression of the disease. However, he has found alternative ways to communicate with his teachers and classmates. By making sounds and mouthing words, Zach can express himself and participate in activities like show and tell. His resilience and determination inspire those around him.
Independence Against All Odds
Louise, too, strives to maintain her independence despite the limitations imposed by FOP. Simple tasks like getting out of bed or getting in the car require assistance, but Louise continues to work through these challenges. With her mother always by her side, Louise is determined to live life to the fullest and not let FOP define her.
A Glimmer of Hope
Researchers at the University of Pennsylvania have been studying FOP for over twenty-five years. They have made significant progress in understanding the disease and have identified the mutant gene responsible for FOP. The next step is to find a way to turn off this gene and potentially activate it to grow new bones. This breakthrough would not only treat FOP but also offer hope for patients with osteoporosis, osteoarthritis, bone cancer, and other bone-related conditions.
A Cure on the Horizon
Dr. Fred Kaplan and his team at the University of Pennsylvania are confident that they are close to finding a cure for FOP. Their research and dedication have given hope to those affected by this debilitating disease. While challenges remain, Dr. Kaplan believes that a cure is within reach. The ultimate goal is to make a difference in the lives of children who will benefit from these advancements in the future.
Unbreakable Spirits
Despite the hardships and uncertainties, both Zach and Louise possess unbreakable spirits. They refuse to let FOP define them or limit their aspirations. Their determination to live life to the fullest serves as an inspiration to others. Their families provide unwavering support, reminding them that they are loved and cherished.
A Message of Gratitude
Zach's parents are grateful for their son, despite the challenges they face. They see him as a gift and embrace every moment they have with him. Louise's mother, too, acknowledges the unique blessings her daughter brings into their lives. The love and support of their families give Zach and Louise the strength to face each day with joy and resilience.
Conclusion
Fibrodysplasia Ossificans Progressiva is a rare and devastating disease that affects a small number of individuals across the world. While there is currently no cure for FOP, ongoing research and advancements offer hope for the future. The stories of Zach Armstrong and Louise Wedderburn exemplify the indomitable human spirit and the power of perseverance in the face of adversity. Through their resilience, they inspire us all to appreciate the precious moments of life and to never give up hope.
