My name is Kirsty and I am 29 years old. I was diagnosed with primary immunodeficiency (PID) in December 2017. Like many people with chronic illness, I can’t tell you when it started – it just crept up on me.

Living with multiple health problems

I have had bowel and stomach symptoms since I was a baby. When I was 17 years old, I went to the doctor again with symptoms. The blood test I had came back positive, and I had an endoscopy in late 2005, which confirmed a diagnosis of coeliac disease.

While away at university I had what I thought was a bout of flu, but it proved to be the start of undifferentiated connective tissue disease (UCTD) symptoms and the words ‘systemic lupus erythematosus (SLE) diagnosis’ started appearing on discharge summaries from the hospital in 2008. At the time, I was in and out of hospital with a complication of scar tissue owing to coeliac disease and had my gall bladder removed. I made the decision to leave university due to ill health.

On leaving university, I worked in the oncology pharmacy at Southampton General Hospital for over four years. It was during this time that I was diagnosed with irritable bowel syndrome as well as coeliac disease. I have had multiple flare-ups of UCTD/SLE over the years. My symptoms affect the connective tissues and result in joint pain, mouth ulcers, chronic fatigue, migraines, skin rashes, flu-like symptoms and/or night sweats, anxiety/depression, swollen glands and Raynaud’s syndrome.

Beginning the PID journey

With an interest in nutrition, I decided to retrain as a dietitian. I completed two years of a four-year dietetics degree. I am determined to finish off the theory and to get a degree in clinical nutrition. The university has been great and, even though I have had health problems throughout, completing a degree can be done with chronic ill health.

I have been under the care of immunology specialists at the hospital for over a year now because I keep getting infections. I was diagnosed with PID in December 2017. I have low immunoglobin proteins (low IgA and IgG) and am deficient in a type of white blood cell. PID explains a lot.

For the last month, I have started to replace my immunoglobulins with filtered blood plasma via weekly subcutaneous infusions at home. I completed training in hospital to administer my own infusions a couple of weeks after my January exams.

My infusions

My infusion will take up to two to three months to make a difference, but hopefully I should stop getting so many infections. All in all, it is a positive thing and there is light at the end of the tunnel.

100,000 Genomes Project

In January 2018, my parents and I took part in the 100,000 Genomes Project. This involved having a DNA sample taken and examined in a laboratory to look for any specific genes that might be responsible for my immune system problems, and to help with genomics research. We should get the results in 18 months.

I like the thought of being at the front edge of scientific research and having the chance to potentially help other people in the future. Even if I don’t get a diagnosis or any results back, it will have still been worthwhile taking part in the research project.

It is always worth thinking outside the box and considering whether your symptoms might be caused by a rare disease. It took me a long time to be diagnosed, but you don’t realise how strong you are and how much you can handle.

Posted June 2018