Alum raises more than £5,000 following niece’s diagnosis with a rare condition

Alum Gavin Jewkes (BA 2011, PgDip 2012) took on Hackney Half Marathon to raise money for research into a rare condition that his baby niece was diagnosed with last year.

In late 2022, Gavin’s niece Francesca was diagnosed with Tuberous Sclerosis Complex (TSC), at just six months old. This rare genetic condition affects around 1 million people worldwide, and causes tumours to grow in the major organ systems, including the brain and heart. Common problems from TSC can include seizures, epilepsy, autism, learning difficulties and kidney problems. It’s an incurable, lifelong condition that requires long-term care.

Gavin, who grew up in Cardiff and whose family still lives here, moved to London after graduating. He said: “I live in West London, which, while not a million miles away from Cardiff, felt like a huge distance from what was happening at home. I felt quite isolated, hopeless, and unhelpful. My first thoughts were ‘what can I do to help fix this?’ but, as with so many rare medical conditions, it’s not as simple as throwing medicine, money, or time at TSC.

“My sister, brother-in-law, mum, and dad have all responded with strength, pragmatism, and love. I’m extremely proud of them and Francesca’s progress is encouraging. My sister has been working extremely hard with her, and so, Francesca is doing very well at the moment. Medication, regular check-ups with the team at Heath Hospital, and lots of love and perseverance, mean they’re learning to live with the reality of her condition. I continue to have some sleepless nights thinking about how this diagnosis could affect Francesca and my family in times ahead, but I know that they’re robust and equipped to take things as they come.”

Despite not living nearby, Gavin wanted to do something to help make a difference. Whilst trying to find out more about the condition online he came across research that was happening at Cardiff University.

“Perhaps unsurprisingly, there is relatively little information on the internet about TSC, but I came across some articles that spoke to the research being done by Professor Andrew Tee at Cardiff. What really caught my eye was the proactivity of what they’re doing to treat both the symptoms of this condition and its root causes, which gave me hope. The fact that it was the university I studied at and the city in which I grew up felt like serendipity!”

Professor Andrew Tee at Cardiff University’s School of Medicine has been conducting research into TSC for over 20 years. He said: “My lab is developing a clinical impact case study on cannabidiol in Tuberous Sclerosis Complex. This has just been approved by NICE to give to TSC patients, to treat seizures in the UK, which is a major victory. However, further funding is essential for us to explore TSC-model cell systems that will allow us to design better curative therapies for this disease.”

Once he realised that research into Francesca’s condition was happening in his home city of Cardiff, Gavin decided to set himself a fundraising challenge. Despite having an on-and off relationship with running, he signed up to the Hackney Half Marathon, with just a few months to train.

“I’m a heavy chap and lived a lively 20s, so not in the best shape for a man in his mid-30s. But choosing the Hackney Half Marathon made sense for me, as a lot of my colleagues were running it too.

“Running has been a brilliant boost to my physical and mental health, and has shifted my outlook on lots of different aspects of my life.”

Gavin has now raised over £5,000, thanks to the amazing support of his friends, family, and his colleagues at TikTok where he works.

“I’m so fortunate to have such amazing support and people have been extremely generous. I feel humbled that everyone has dug deep, even in the midst of the cost-of-living crisis, to donate to this brilliant cause.

“I’m incredibly grateful to those who have donated and equally thankful to those who have reached out to share their experiences of similar worries within their own family.

“TSC is an underfunded, under researched condition, with low awareness of its existence and effects. There is no ‘dream fundraising target’, just a dream outcome – money that will continue to fund Cardiff University’s research and drive the discovery of new treatments and, you never know, a cure.”

Dedicated fundraisers like Gavin help to fund Cardiff University research into areas such as cancer, neuroscience and mental health, heart disease, and rare conditions such as TSC.

“Francesca’s diagnosis knocked me and my family for six. While we know she will always be loved and well cared for, we don’t know what her future looks like, which is why the research at Cardiff University is so important – it gives patients and families like mine some hope that effective treatments are just around the corner, and that those with this diagnosis can live as ‘normal’ and fulfilling life as possible.”

You can still sponsor Gavin through his JustGiving page. If you’re interested in fundraising for Cardiff University’s lifesaving and life changing research, visit cardiff.ac.uk/fundraise.