Teen gets 'life-changing' drug for genetic condition that killed mum, grandma, aunt and uncle

A TEENAGER who lost her mother, grandmother, aunt and uncle to a genetic condition has become the first person in Europe to receive a “life-changing” drug.

- By Jane Kirby

Mary Catchpole, 19, suffers from activated PI3-Kinase delta syndrome, a rare inherited disorder that leaves people with a significantly weakened immune system.

Patients are vulnerable to repeated infections and face a lifetime of antibiotics and invasive procedures.

Mary’s maternal side of the family has been badly affected by APDS. Her mother Sarah died aged 43 in 2018, while her aunt Helen died aged 12.

She lost her uncle Edward when he was 39 and Sarah’s mother, also named Mary, died aged 48.

Now, thanks to researchers who identified APDS, the teen has received a new drug to treat it at Addenbrooke's Hospital, Cambridge.

The medicine leniolisib (Joenja) is the first targeted APDS treatment and is a tablet taken twice a day.