Chance meeting leads to research breakthrough

When WEHI clinician-researcher Dr Charlotte Slade met Cynthia Agius, neither knew it would lead to a research breakthrough and a lasting friendship.

Charlotte

I met Cynthia 10 years ago when I was an immunology and allergy registrar at the Royal Melbourne Hospital. I was struck by what an upbeat person she was, despite having to come into hospital regularly. She was always friendly and grateful to the hospital staff for the care she received. Throughout everything, she has remained positive.

Cynthia has CVID or common variable immune deficiency. It is a condition that impairs the immune system. People with CVID are more susceptible to infection and can develop autoimmune and inflammatory diseases. Meeting Cynthia, and others like her, made me want to learn more about what caused the disorder.

I recruited Cynthia to our research study at WEHI in 2014. I was curious to find out why some patients with CVID developed more severe disease, while others did not. I had a strong suspicion Cynthia’s condition was genetic. Her mother also had CVID and we found that many of her mother’s relatives also had the condition.

“Through our research at WEHI, we discovered that Cynthia’s condition was caused by a mutation in a gene called NFKB1. Pinpointing the exact cause of her condition and being able to explain that to her family was rewarding.”

Charlotte Slade

We screened her children to see if they had inherited the mutated gene and learned that one of her children, a daughter, had inherited the gene, as well as her five-year-old granddaughter.

L to R: Photo of Dr Charlotte Slade (Postgraduate Student; Immunogenetics Research Team; Immunology Division) and patient Cynthia Agius.

Working with Cynthia and her family has taught me a lot about the types of conditions gene mutations can cause. The information about the mutated NFKB1 gene and the ability to screen for it will help people to make better informed choices about their life.

Having a relationship with Cynthia has spurred me on to find answers that might be beneficial for her treatment, or for her children and grandchildren. When you have a personal relationship with your patients, you can’t help going that extra mile for them.

Cynthia

I was diagnosed with CVID 23 years ago. Not long after, my mother was also diagnosed. We didn’t realise it at the time, but many of her 18 brothers and sisters in the Netherlands, and some of their children, also had the condition.

I’d had a lot of infections, but they were always put down to other things. I was getting sinus and chest infections and was in hospital three times a year with pneumonia. Nobody was able to pinpoint the cause. It was not until they realised my immunoglobulin (Ig) levels had dropped to zero that I was sent to see an immunologist and put on monthly infusions of antibody treatments.

Charlotte was one of the registrars at the immunology clinic and we bonded instantly. A few years later, Charlotte asked me to be part of some research she was doing at WEHI. I was honoured to be involved.

Finding out that my CVID was caused by a genetic mutation was a relief in some ways. I am glad that my children were able to be screened. My daughter was diagnosed at a younger age than me, so hopefully she will be better able to better manage her condition.

“It was a breakthrough that Charlotte discovered the mutant gene in our family. Having this information can help patients and doctors make better informed decisions about treatments.”

Cynthia Agius

I have gone through a lot with this condition, but I hope this makes things easier for other families like mine.

Charlotte is a beautiful, caring person. She is more than just a doctor; she has become a friend. We have a special bond that I think will last for many years to come.

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