Mandy Vine

When Mandy Vine’s son Matthew was diagnosed with a rare and life-altering brain condition nearly eight years ago, her world shifted overnight. What began as a terrifying health crisis has since grown into a powerful journey of advocacy, awareness, and action—culminating in Mandy raising nearly £45,000 in support of research into this little-known disease. “I was a mum of 2, approaching 50, life was ticking along,” Mandy recalls. “We were a very active family—I was into running and racket sports. Then everything changed when Matthew was diagnosed.”

A Rare Diagnosis—and a Rare Opportunity

Matthew’s condition, known as Leukoencephalopathy with Calcifications and Cysts (LCC), also known as Labrune’s syndrome, is an extremely rare genetic brain disorder that causes abnormal calcium deposits, cysts, and white matter damage. It can lead to seizures, mobility issues, and even life-threatening pressure on the brain. Mandy and her family were lucky in one regard: a geneticist at St George’s Hospital in London had recently attended a medical conference led by Professor Yanick Crow, a world expert in LCC based at the University of Edinburgh. That connection helped Matthew receive an unusually quick diagnosis. “We were incredibly fortunate,” Mandy says. “From there, I went on a mission to find every bit of information I could. Everything pointed back to Yanick.”

Partnership with a Pioneer

Pr. Yanick Crow, a clinical geneticist and researcher at the University of Edinburgh, has spent over two decades working on rare diseases like LCC. His team was instrumental in identifying the gene responsible for the condition, a major scientific milestone that laid the groundwork for improved diagnosis and future treatment development. “There’s a lot of randomness in how we end up working on certain diseases,” says Yanick. “But discovering the gene gave us a solid foundation. The challenge now is translating that into effective therapies.” Thanks to Mandy connecting her son’s medical team with Prof. Crow, Matthew was able to begin treatment with an experimental cancer drug that has helped stabilise his condition for over four years. But access to such treatment remains inconsistent and difficult for many other families.

Fundraising for Research and Hope

Determined to contribute in a meaningful way, Mandy launched a JustGiving page in 2017 to raise funds for Prof. Crow’s research at the University of Edinburgh. What began as a personal campaign quickly grew into a sustained community effort, fuelled by Mandy’s creativity and tenacity. From running half marathons—once even in kilts during lockdown—to hosting quiz nights, garden plant sales, coffee mornings, and designing calendars and Christmas cards, Mandy’s fundraising has now reached nearly £45,000. “I know it’s not millions, and it won’t fund a clinical trial tomorrow,” Mandy says, “but it’s something. It’s about raising awareness, connecting families, and doing what I can to help researchers like Yanick keep going.” Yanick is deeply appreciative. “Mandy’s been incredible,” he says. “She won’t say it herself, but she’s made a real difference—not just for Matthew, but for others out there facing this diagnosis.”

A Personal Mission with a Broader Impact

Matthew is now a young adult with a job he enjoys and a passion for boccia, a Paralympic sport similar to bowls. Mandy, now a qualified boccia referee, spends much of her time traveling the UK supporting him at events. “I’ve learned you have to fight for everything—from getting the right diagnosis to securing treatment,” Mandy says. “It’s exhausting, but we’ve been lucky. Not every family has that.” For Mandy, fundraising is not just about money—though the nearly £45,000 she’s raised is substantial. It’s also about building a network, providing encouragement, and pushing for progress in a space that’s often overlooked. As Yanick notes, “rare diseases often don’t get the attention or funding they need. But with people like Mandy raising awareness and supporting research, we have a chance to change that.”

Looking Forward

There are promising developments ahead. Interest in LCC is growing across Europe, and there are early discussions about including the condition in broader rare disease networks such as the European Reference Networks (ERNs). For now, Mandy remains focused on what she can do today: support her son, connect with other families, and keep the momentum going for the research team she believes in. “I never imagined being in this position,” she says. “But if sharing our story and raising money for Yanick’s work helps move the science forward, then it’s all worth it.”Mandy, Matthew and family wish to express their sincere thanks and gratitude to all their family, friends and local community who continue to support them with their fund-raising activities, raising awareness of LCC and of course to Prof.Yanick and Andy Badrock and their team at Edinburgh working tirelessly to overcome this disease, providing a source of hope for the future for families living with LCC. 

To support Mandy’s campaign and learn more about LCC, visit her fundraising page: https://www.justgiving.com/fundraising/mandytanner