Auto Amazon Links: No products found. Blocked by captcha.
In a breakthrough development, a teenager from Norfolk has become the first patient in Europe to receive a newly licensed treatment for her life-threatening, inherited disorder. Mary Catchpole, 19, has been battling a rare condition that affects her immune system, making her more susceptible to infections. This new treatment, leniolisib, offers hope and joy to Mary as she becomes the first person to benefit from this targeted medication for her condition, Activated PI3-kinase Delta Syndrome (APDS).
Mary’s family has played a crucial role in the research leading to the discovery of APDS, which was identified in 2013 by researchers at the University of Cambridge and clinicians at Addenbrooke’s hospital. Dr. Anita Chandra, a consultant immunologist at Addenbrooke’s Hospital, expressed her amazement at how quickly a treatment has been developed and approved, within just 12 years of discovering this new disease. The research conducted on Mary’s family has paved the way for the approval and availability of this groundbreaking treatment on the NHS.
Eager to help other rare cases like their own, Mary’s family actively participated in trials and research to find a solution for APDS. Mary’s father Jimmy emphasized the long-awaited relief that this drug brings, as it finally offers Mary the chance for a normal life that seemed out of reach before. This medication, known as Joenja, works by blocking the enzyme that disrupts the immune system in APDS patients, allowing their bodies to function normally and fight infections effectively.
As Mary embraces this new chapter with optimism, she looks forward to a future free of constant medication, hospital appointments, and fear of infections. With dreams of becoming a dance teacher and living a fulfilling life, Mary’s resilience and determination inspire hope for others living with rare genetic disorders. The accessibility of leniolisib through the NHS marks a significant milestone in providing innovative treatments for those affected by rare conditions, reflecting the healthcare system’s commitment to improving the lives of individuals facing debilitating genetic disorders
Read the full article from The BBC here: Read More
Auto Amazon Links: No products found. Blocked by captcha.