Arabella’s story as told by her mum, Tamsin
When Arabella was born, she was a healthy 7lb baby with no health issues. She thrived until the age of one, when she developed what I thought was a nasty chest infection. It lasted for seven long years.
We were frequent visitors to our local hospital. Then, one day, we saw a brilliant consultant at our local hospital who referred us to Great Ormond Street Hospital (GOSH). Now – finally – we know the reason for Arabella’s health problems.
Arabella has activated P13K delta syndrome, also known as APDS. Her condition affects her lungs, mostly causing bronchiectasis and a lung collapse. It also affects her sinuses, bowels, bladder, eyes and has caused hearing loss and dysphagia (difficulty swallowing).
GOSH have been amazing. Arabella is undergoing immunoglobulin replacement therapy and intravenous medications at home, which have improved her infection rates massively.
APDS can cause lymphoma and we had a horrible scare related to this in 2022. We are currently trying to find a donor for a bone marrow transplant to completely cure Arabella’s condition, but we are yet to find a match.
Arabella’s APDS has had an enormous impact on our family life. The gene responsible for the condition can be passed on to a child by just one parent during conception. Arabella has been extremely brave; she is always smiling – she has a beautiful smile. She is a true fighter and an inspiration to our family and friends.
Our aim is to raise as much awareness of APDS as we can, to support other families in the same situation.
Posted January 2024
Other patient stories can be found at
You can find out more about APDS here.
