STORY SUMMARY
Uplifting Arizona: A local mom, Mariah Austin, is singing the praises of doctors who saved her daughter’s life from an extremely rare disease. Two-year-old Genesis, born with Grelli Syndrome Type 2, a condition affecting fewer than 1,000 people in the U.S., faced a dire prognosis from birth. Transferred to Phoenix children‘s Hospital, her condition baffled doctors until an immunologist suspected the rare disease. Genesis required chemotherapy at just six weeks old and a bone marrow transplant at two months, which she received the day after Christmas. Now seemingly cured, Mariah is filled with hope and shares her experience to remind others never to give up. “PCH saved my daughter,” she says, underscoring the miraculous journey of her young child. This is Cameron Polum for ABC 15, bringing you another edition of Uplifting Arizona.
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In an inspiring instance of medical triumph, a local mother from Arizona, Mariah Austin, sheds light on the lifesaving efforts of healthcare professionals who diagnosed and treated her daughter, Genesis, for an exceptionally rare disease. Genesis, who is set to turn two next month, was born with the extremely uncommon Grelli Syndrome Type 2, a condition so rare that fewer than a thousand people in the United States have it. This genetic disorder went unnoticed initially due to its rarity, leading to significant health challenges that included severe jaundice and deteriorating liver and spleen functions.
The Austin family initially sought help at a hospital in Safford, but unidentifiable symptoms led to Genesis being transferred to Phoenix Children’s. There, an immunologist recognized the specific traits of the syndrome, notably her distinct silvery gray hair, leading to a confirmed diagnosis through specialized testing. Genesis’ treatment began urgently; she underwent chemotherapy at just six weeks old and received a critical bone marrow transplant when she was only two months. Miraculously, a matching donor was found when there was only a 50% chance of success, and Genesis received her life-saving treatment the day after Christmas.
Today, Genesis shows no signs of the disease that once threatened her life. Her journey from a seemingly hopeless diagnosis to a hopeful future stands as a testament to the power of medical innovation and the resilience of a determined mother. Mariah Austin’s story serves as a poignant reminder of the importance of perseverance and faith amidst overwhelming odds, sending a message of hope to families facing similar battles.
