Carl’s Story

I live in wiltshire in the UK and I have PK Deficiency. I was diagnosed at the age of 4 after having to see a number of physicans at different hospitals. I was lucky to be referred to the Hammersmith Hospital in London where a new unit to treat people with PK Defiency was veing set up.

I had many red cell transfusions until the age of 6 when I had my spleen removed; only having occasional transfusions from then until mid mid 20s.

I qualified as a Registered Nurse in 1996 and worked in medical and orthopaedic wards until I moved to work in Intensive Care and Interventional Cardiology. Eventually I realised that working on the frontline of nursing was not good for my health I moved to an education role. I have since worked across a variety of clinical and non-clinical roles until retiring (very early) in 2024.


PK Deficiency has brought many challenges but also a huge number of opportunities.

I now spend my time advocating for people with PK Deficiciency and other Inherited Metabolic Disorders. In addition to being PKDIA;s Research Director I am Co-Chair of Metabolic Support UK, a UK based charity for people living with an Inherited Metabolic Disorder.

In 2025 I was awarded an MSc in Advanced Health and Care, focussing on Value Based Healthcare. I am currently studying for a PhD, exploring how Patient Reported Outcome Measures can be more effectively used in the care of people with an Inherited Metabolic Disorder.

As I have grown older my health has deteriortated, now requiring a blood transfusion each week. These help me live the life I want to (with a number of limitations) I use a powered wheelchair to get around, nonetheless I am able to travel, attend and speak at conferences and events and have a fun social life.

I am so pleased that PK Deficiency now has a therapy available and as a co-author of the PK Defieicncy International Guidlelines on diagnosis and managment.

My role with PKDIA means that I can put my research experience to good effect to further help explore the issues that affect us. In my role as Steering Committee member (previously as Chair) I am able to help direct the analysis that is undertaken on the registry data.