My name is Bethany and I have activated phosphoinositide 3-kinase delta syndrome (APDS), a rare autoimmune deficiency. I can’t remember how old I was when I was diagnosed; I think I was about 19. I’m 24 now and a management accountant for a healthcare provider.
For many years I had struggled with coughs and colds. In the office, I was known as the person who was constantly ill. My asthma didn’t help. I always knew that I would catch the slightest cold that was circulating, and that it would affect my breathing and hearing.
My diagnosis came about following some blood tests that my dad had at Addenbrooke’s Hospital, Cambridge. Dad was suffering with a lung illness (he has COPD) and blood tests revealed that he was lacking in white blood cells. The consultant said the low levels of white blood cells could be hereditary and asked my dad if he had any children: there’s me and my two older sisters. The consultant suggested we had some blood tests. The results found that my oldest sister and I have a faulty gene; my other sister hasn’t and she has no health problems.
The diagnosis of APDS didn’t take too long but there was a delay, owing to the communication between Addenbrooke’s Hospital and my local hospital, the Queen Elizabeth Hospital Birmingham.
Being diagnosed with APDS helped me to make sense of my body
For years I was fed up with the constant bouts of general sickness I endured. There were days when I felt so unwell that I couldn’t go to work. Now my condition is better controlled, thanks to my medication. I still experience the odd infection, because the medication doesn’t stop all chest infections.
I am always tired, which I believe could stem from my body having to fight infections constantly. I try to be mindful about what I eat and drink, which isn’t something I did before. So, having APDS has made me think more about what I am putting into my body.
What I wish for people affected by APDS
My wish list only consists of one item, which is the wish that My wish is that all medical professionals know and understand what APDS is. The number of times I have had to explain the condition; it feels as though I am educating the medical sector. It becomes frustrating because, often, APDS is a contributory factor to my sickness at the time and impacts on my treatment plan.
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