Case study: Taking part in children’s research: Bea’s story

The Oxford youngster, 12, signed up to take part in the national DNA, Children + Young People’s Health Resource (D-CYPHR) programme, which is collecting saliva samples, a health and lifestyle questionnaire and medical and education data from ages 0 to 15.

It is hoped the programme will help researchers better understand childhood disease, as well as how our genetics and our environment influence our health. Research areas include rare diseases, diabetes, mental health conditions and heart disease.

Bea contracted meningitis at 11 weeks and at 14 months was hospitalised with Kawasaki disease, a condition that causes high fever and inflammation.

After contracting COVID-19 in 2021, Bea’s health deteriorated once more but, despite intensive investigation, no cause for her symptoms was found.

Finally, Bea underwent genetic testing and an alteration in the NLRP3 gene, which plays a role in regulating the innate immune system and inflammatory signalling, was found, leading to a diagnosis of Muckle-Wells syndrome. She receives a daily injection when her condition flares-up and takes tablets to reduce inflammation.

Bea said: “I’d felt unwell for months so it was a relief in a way to get a diagnosis, even though it is something that will be with me forever.

“I try really hard not to let my illness define me, and I’m lucky that there is a treatment. I keep going even when I’m in pain.

“Taking part in research gives you the chance to help so many people. I think it's important to learn more about genetic diseases in children so we can find new treatments.”

Mum Lucy, herself a doctor in Clinical Genetics at the Oxford Centre for Genomic Medicine at the Nuffield Orthopaedic Centre, Oxford, said: “I found out about D-CYPHR on a Facebook group for doctors that I am a part of.

“I showed it to Bea and she was eager to take part. I guess because of my work, Bea is interested in genetics, and she felt like she wanted to support the research as a person with a rare disease. She is really excited at the prospects that advances in genetics offer for diagnosis and treatment.

“The more we know about rare genetic conditions, the more treatment options become available to patients. The information that comes with a diagnosis is also extremely helpful for families. I would encourage anyone to take part in genetic research because it has such potential to benefit the whole population.”

Talk to your healthcare professional about taking part in research or search for studies seeking volunteers at Be Part of Research.