A teenager who lost her mother, aunt and uncle to a genetic condition is the first person in Europe to receive a “life-changing” drug.
Mary Catchpole, 19, from Great Yarmouth, suffers from a rare inherited disorder called activated PI3-Kinase delta syndrome (APDS), which leaves people with a significantly weakened immune system.
The condition was passed down by her mother’s side of the family, with her mother Sarah dying aged 42 in 2018, while her aunt Helen died aged 12, her uncle Edward when he was 39 and her grandmother Mary when she was 48.
APDS patients are vulnerable to repeated infections, causing them to face a lifetime of antibiotics and immunoglobulin replacement therapy to prevent infections and organ damage, and a bone marrow or stem cell transplant – until now.
A new drug called leniolisib (Joenja) is a simple tablet taken twice a day and is the first ever targeted treatment for APDS.
Ms Catchpole, who is the first person in Europe to receive the medicine after it was made available on the NHS, said taking the new drug is “life-changing” as it means she can leave behind huge amounts of medication.
The new APDS drug. Pic: Mel Yeneralski Media Studio/Cambridge University Hospitals
“I was diagnosed with APDS aged seven and it’s had a big effect on my life. I had lots of cannulas when I was younger and lots of hospital trips,” she said.
“I had a permanent line in the side of my body when I was younger, which they put medicine in regularly at the hospital.”
Ms Catchpole added that she wasn’t allowed to do much physical activity, including dancing, which she’s “always loved to do”. “It has been hard,” said the teaching assistant, who lives with her father Jimmy, 64, and her brother Joe, 20, who does not…
