New Drug Offers Hope for Rare Inherited Condition

Mary's father Jimmy said: \"We just wanted to help, not just for our own sakes, but we'd heard there were other rare cases. \"My wife volunteered for trials and, when Mary got old enough, she did too.\" Mary's mother Sarah died aged 43, her aunt aged 12, her uncle aged 39 and her grandmother at 48. One of Mary's cousins was successfully treated as a child with a bone marrow transplant, but these carry significant risks. Mary, who was 12 when her mother died, told us: \"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.\" In APDS, an enzyme produced in the body is \"switched on\" all the time, disrupting the development of white blood cells and causing the immune system to be disregulated. People with the condition are vulnerable to repeated lung infections which can lead to irreversible damage. It can cause organs and lymph nodes to swell, and the body's immune system to attack healthy tissue. Patients are also at risk of lymphoma, a cancer which affects a type of white blood cell. The drug, branded Joenja, is taken twice daily as tablets, and works by blocking the enzyme, allowing the immune system to work normally. Jimmy told the BBC: \"This is something I have dreamt about since Mary was first diagnosed; it is giving her the chance to live a normal life.\" Mary suffered regular chest infections as a child and has been repeatedly treated with intravenous antibiotics, nebulisers and immunoglobulin replacement therapy. She has been taking the leniolisib tablets for less than a month but has already stopped some other medication. Dr Chandra, who is Mary's consultant and has treated several other family members, said the drug was a \"potential cure\".