19 year old Mary Catchpole from Great Yarmouth has become the first person in Europe with the ultra rare immunological condition APDS to receive leniolisib (Joenja) a targeted treatment that controls the effects of the disease.
APDS (activated PI3-kinase delta syndrome) was first characterised in Cambridge in 2013. It is a life-threatening condition that weakens the immune system and makes patients prone to infections, and increases risk of lymphoma and other haematological malignancies.
Current management involves immunoglobulin infusions and antibiotics, which has a significant impact on patients' lives. The new treatment involves a single pill twice a day.
Read the full story from Cambridge University Hospitals NHS Foundation Trust to find out about the impact APDS has had on Mary's family and the role they played in helping to characterise the disease.
Now that I have this new treatment, it does feel bitter-sweet as my late mum and other affected members of my family never got the chance to have this new lease of life, but it is a gift. I feel blessed.
Mary Catchpole