Mary Catchpole, a 19-year-old from Norfolk, is the first patient in Europe with Activated PI3-kinase Delta Syndrome (APDS) to receive leniolisib, a newly licensed treatment that could cure her immune disorder. Mary, who lost multiple family members to APDS, expressed her mixed emotions about this breakthrough, acknowledging the loss of her loved ones before they could benefit. The treatment's approval marks a significant achievement from the discovery of the disease in 2013 to its application within 12 years, highlighting the collaborative efforts of her family in clinical trials to pave the way for future patients.
This treatment has brought me hope and joy," Mary told BBC News: "I feel like I can do anything, but it is bittersweet because my family members passed away before they could benefit.
It is incredible to go from the discovery of a new disease in Cambridge to a treatment being approved and offered on the NHS, within the space of 12 years.
My wife volunteered for trials and, when Mary got old enough, she did too.
It was always a fear that I would die young too but with this medication, I know I can have a longer life, which is what she wanted.
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