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
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