Maddie was diagnosed with single deletion mitochondrial disease in early 2020, following a biopsy the previous year. The news was delivered over the phone – like so many life-changing conversations that took place that year. For her parents, Kay and Paul, that diagnosis was overwhelming, confusing and heartbreaking all at once. For Maddie, now 27, it presented challenges no young person should have to endure.
Although her symptoms became more noticeable at around the age of 12, in hindsight her family realise the signs were there even earlier. For example, Maddie’s always been very short – a trait commonly associated with her condition.
Connecting with The Lily Foundation
When Maddie first received her diagnosis, the family were signposted to The Lily Foundation. But at the time, they were trying to process the life-shattering news and struggling to adapt to a new reality, so the information felt neither relevant nor meaningful. A long time later, Kay briefly visited the charity’s website, but it left her feeling overwhelmed.
“I clicked on a video of a young man saying he was suffering indescribable pain,” she recalls, “and that felt so scary. I didn’t want to know what was coming for Maddie. But, of course, now I understand that there’s such a wide spectrum of symptoms, she is unlikely to be like that.”
Then last year Maddie’s vision began to deteriorate more rapidly than expected, and she began to struggle particularly in low light. As a stage manager, this requires some adaptions which are not always practical as so much of her job is done in dark conditions. She’s also recently had to give up driving. “It’s a lot for her to cope with,” Kay concedes. “At times it feels like it’s all accelerating.”
Suddenly her parents felt compelled to act. “I wanted to know if you had any ongoing research that might help,” explains Kay, “or whether there were any projects we could fund. I guess we wanted to try and empower ourselves through science and research.”
“You’re so highly respected,” she adds. “When you have your first in-person meeting with your clinician, they give you a Lily leaflet. There aren’t many small charities in this country who have that level of respect within the NHS.”
More than just a fundraiser
The family finally decided to take the plunge by attending one of our fundraising events, the Lily Comedy Night. What they found was a warm and welcoming event whose unique approach captivated them and their group of friends.
“We have a number of close friends who care about Maddie a lot,” says Kay. “None of them really understand what she’s got. It shocks them, but then they don’t know what to say because it doesn’t mean anything to them.”
Attending the Comedy Night left their friends not only entertained but also informed and inspired. “Instead of going to a ball or an auction, Kay continues, “they all thoroughly enjoyed this because it was different. It was a lovely introduction to the charity.”
For Maddie’s parents, being at the event was about more than just having an enjoyable evening for a good cause. They want to use their connections and experience to raise awareness of mitochondrial disease and bring in new supporters.
“We could just give you a donation,” explains Kay, “but we want to do more than that. We want to help take you forward and raise awareness, give you a different forum. You’ve given us a platform and the confidence to start spreading the word.”
Finding purpose and spreading the word
Attending that first event has changed everything for Kay, Paul and Maddie. It’s given them purpose and a way to transform fear and frustration into action. It’s introduced their friends to the charity, and it’s offered Maddie the chance to join a community of like-minded people going through similar experiences. “The Comedy Night was such a nice introduction for us all,” says Kay. “I think Maddie might want to attend the Young Adult Weekend too!”
Kay hopes that by sharing their story, she can inspire others to get involved too. Because whether it’s attending an event, making a donation or simply spreading the word, we all have the power to make a difference. Together, we can fight mitochondrial disease and bring hope to everyone affected.
