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Main Story:
Mary Catchpole, a 19-year-old from Norfolk, is the first patient in Europe to receive a new treatment (leniolisib) for a rare, life-threatening inherited immune disorder called activated PI3-kinase Delta syndrome (APDS). This treatment offers the potential for a cure.
Mary has a family history of this condition, having lost her mother, grandmother, and other relatives to it.
Background & Research:
The condition, APDS, was identified in 2013 by researchers at the University of Cambridge and clinicians at Addenbrooke’s Hospital. They discovered a faulty gene carried by Mary’s family.
Mary’s family played a crucial role in the research that led to the identification of APDS.
Dr. Anita Chandra highlighted the rapid progress from disease discovery to treatment approval (within 12 years).
Importance:
Leniolisib is the first targeted treatment for APDS.
The treatment brings hope to Mary and possibly others with the condition.
It’s a significant achievement in medical research and the NHS offering a new treatment.
The text includes two images: one of Mary Catchpole and a placeholder image.
