A 12-year-old Oxford girl who is suffering from a rare autoinflammatory disease has joined a national programme aiming to further studies into similar conditions.
Bea Hanington, who has Muckle-Wells syndrome, enrolled in the DNA, Children + Young People’s Health Resource (D-CYPHR) programme last year.
The initiative gathers saliva samples, health and lifestyle questionnaires, and medical and education data from children and young people aged 0 to 15.
Muckle-Wells syndrome triggers fever, skin rash and joint and abdominal discomfort.
Bea's mother, Dr Lucy Hanington, a clinical genetics specialist at the Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, said: "I found out about D-CYPHR on a Facebook group for doctors that I am a part of.
"Bea is interested in genetics and she felt like she wanted to support the research as a person with a rare disease."
Bea Hanington survived meningitis at 11 weeks old and was hospitalised with Kawasaki disease, an illness causing high fever and swelling, at 14 months.
Following a contraction of COVID-19 in 2021, she lost weight and suffered from a fever, rashes, joint pains and abdominal discomfort.
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Her mother said: "Watching Bea suffering and oscillating between thinking I was worrying too much or too little.
"I was lucky that Bea had a fantastic team looking after her, including a wonderful paediatrician who has looked after each of my children over the past 15 years."
Bea's situation saw her under genetic testing which uncovered an alteration in the NLRP3 gene, involved in controlling the innate immune system and inflammatory signalling, leading to a diagnosis of Muckle-Wells syndrome.
Lucy Hannington said: "She is lucky in that this condition has a really good treatment that prevents the more severe features such as deafness and kidney failure from occurring."
Now, Rye St Antony school pupil Bea receives a daily injection when her condition flares up and takes tablets to reduce inflammation.
Her mother said: "The treatment for Muckle Wells, as well for ADHD, which was diagnosed at around the same time, has been life-changing for Bea."
Bea has been thriving both academically and socially, overcoming her various physical ailments to be elected Prep School Captain.
She said: “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."
To learn more about research and to search for trials seeking volunteers, or to learn more about D-CYPHR, visit The National Institute for Health and Care Research website.
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