Oxford mum backs research after daughter joins study into rare genetic diseases

An Oxford mum whose daughter has a rare autoinflammatory disease has urged people to consider taking part in research after backing her to join a national programme that will support studies into similar conditions.

Dr Lucy Hanington spoke ahead of Thursday’s (29 February) Rare Disease Day, an annual event which aims to raise awareness and generate change for the 300 million people worldwide living with a rare disease, their families and carers.

Daughter Bea Hanington, 12, has Muckle-Wells syndrome, an autoinflammatory disease that causes fever, skin rash and joint and abdominal pain.

Early last year Bea 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. It is led by the National Institute for Health and Care Research (NIHR) BioResource in partnership with the NHS and the University of Cambridge.

The Summertown mum-of-three, 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.”

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

Lucy said: “For a year after her Kawasaki diagnosis, I would have to move her joints every hour through the night or she would wake up stiff and screaming in pain.”

After contracting COVID-19 in 2021, Bea’s health deteriorated once more: “She had fevers, rashes, joint pains and abdominal pains and lost a lot of weight. At times I would have to lift her out of the bath and dress her.”

Despite intensive investigation, no cause for her symptoms was found. Lucy said: “I really struggled during this period, 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.”

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.

Lucy 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. Although the diagnosis has brought with it a whole range of feelings, including guilt, it is good to have an explanation for her symptoms.”

Bea, who attends Rye St Antony school, Headington, Oxford receives a daily injection when her condition flares-up and takes tablets to reduce inflammation.

Lucy said: “The treatment for Muckle Wells, as well for ADHD, which was diagnosed at around the same time, has been life-changing for Bea. She began to thrive both academically and socially. Her wonderful school moved with her as she changed and last year she was voted Prep School Captain.

“She did all this despite ongoing episodes of fever, pain, rash and vomiting. She has always been determined to carry on as normal and not to let illness rule her life.”

Lucy is also mum to Annabel, 15 and Theo, 5, who also has a rare genetic autoinflammatory condition.

She said: “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.”

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.”

Participating in health research helps develop new treatments, improve the NHS, public health and social care and save lives.

The NHS, public health and social care supports research by giving patients opportunities to take part in trials. Healthy people can also take part so results can be compared to those with a medical condition.

To learn more about research and to search for trials seeking volunteers visit bepartofresearch.uk. To learn more about D-CYPHR visit bioresource.nihr.ac.uk/dcyphr