Rare Disease Day, observed on February 28th, aims to raise awareness about rare diseases and advocate for advanced research for treatments and cures. In the United States, a disease is considered rare if it affects fewer than 200,000 people. Remarkably, one in ten Americans lives with a rare disease or disorder. On this significant day, families affected by rare diseases share their personal stories to highlight the challenges they face and the hope that research brings.
Tiffany Reuzenaar shared the touching story of her daughter, Charlotte Grace, who was diagnosed with a chromosomal abnormality called Triploidy Syndrome during pregnancy. Despite the dire prognosis, Charlotte lived for nine days after birth, a miraculous duration for a condition where affected babies typically do not survive past the first trimester. Tiffany’s account emphasizes the compassionate care and the crucial support they received from Riley Hospital and its specialists, allowing them to cherish every moment with Charlotte.
Kelsie Weikel narrated the journey of her son, Kamdyn, who has Cornelia de Lange syndrome (CDLS), a condition discovered during pregnancy. Kamdyn’s story is one of resilience, involving numerous surgeries and therapies to address his unique needs, including micrognathia, a cleft palate, and other health challenges. Kelsie’s narrative underscores the comprehensive care and support from Riley Hospital, contributing to Kamdyn’s growth and happiness despite his condition.
Olivia Ruzic shared the story of her son, Archer, named for his strong and pointed spirit. Archer faced multiple health issues from birth, including a life-threatening heart condition and a rare genetic syndrome, Kabuki Syndrome. His journey is marked by remarkable survival and progress, defying the grim expectations following a severe brain bleed. Olivia’s story is a testament to the power of faith, love, and the exceptional care provided by Riley Hospital.
Samantha Hinman recounted her daughter Aurora’s diagnosis with Pyruvate Dehydrogenase Deficiency (PDH), a rare metabolic disease. Samantha highlights the crucial role of the genetics team at Riley in quickly diagnosing and managing Aurora’s condition, which significantly improved her quality of life. Aurora’s story illustrates the importance of specialized care and the difference it can make in the lives of those with rare diseases.
These stories, shared in honor of Rare Disease Day, illuminate the profound impact of rare diseases on families and the importance of medical expertise, research, and community support in navigating these challenging journeys.
