I am Jamie and I have the ultra-rare condition called activated phospoinositide 3-kinase delta syndrome (APDS). I was diagnosed when I was 2 years old. I am 17 now and a student with a part-time job.

The challenges of living with APDS

My symptoms tend to affect my chest and bowels. I am prone to getting chest infections and, in the case of my bowels, and often one day in every week I will feel ill and have diarrhoea. Many of the challenges I have faced are mostly to do with trying to live a normal life – combining school, work and socialising with hospital visits, spending months at a time in hospital and being poked and prodded with needles. APDS has affected me a lot; it still does. Luckily people are very kind and will give me a pass if I miss a day owing to illness or if I have a hospital appointment.

My condition can leave me exhausted, drained, both mentally and physically

Growing up with APDS made me feel alone and it felt like I couldn’t talk to anyone about it. Now I know there are other people affected, so that makes me feel less isolated.

The condition saps my energy, both mentally and physically. I think it also has an impact on my diet because when I eat something with ‘bad’ calories, my bowel is immediately affected. It’s like my body is trying to get rid of the bad nutrients. APDS has kept me underweight for many years.

My treatment and living with APDS

My treatment is called immunoglobulin, which means I’m given antibodies every three weeks. But I have had many tests and treatments over the years – too many to count or name. When I was young, my mum used to bribe me by saying things like, ‘I will get you a hot chocolate if you’re a brave boy’, to help divert my attention away from the treatment towards the prize. It sounds stupid but it worked.

My condition is a thing, I think, that ruins relationships because I feel like any partner would have to watch me suffer through pain and deal with a lot of stress. This means I try to avoid relationships as much as possible. My condition means I have to use the toilet a lot, so it would hold people up when leaving a restaurant or a cafe.

Explaining APDS to other people

I explain my condition to other people as simply as I can. I tell them that I have no antibodies, so I am prone to getting a lot of infections.

My wish

My wish is to reach out to people who have APDS; to build a community where people with the condition could talk and share tips about dealing with pain or the symptoms. I am open to giving my details to other people with APDS.

This patient story was developed with the help of funding from Pharming to Immunodeficiency UK in 2022. Pharming had no contact with the author and no editorial control.

Posted September 2022