This page has been funded by UCB, but editorial control lies with the contributors. UCB only performed a medical accuracy review but was not otherwise involved in the content.
Katie Waller
Science and Patient Engagement Officer, The Lily Foundation
Mitochondrial disease is extremely rare and life-changing. Thanks to dedicated patient advocacy and growing research, patients have reason for hope.
When a person receives a shock diagnosis, it challenges not only their own coping mechanisms but their whole family’s resilience. When the disease is rare, and not yet properly understood by medical science, it is more traumatic still.
Supporting people diagnosed with mitochondrial disease
The Lily Foundation was founded in 2007 by Liz Curtis in memory of her daughter Lily, who died from mitochondrial disease at eight months old. Finding little in the way of specialist knowledge or support available to help her through her ordeal, Liz set out to provide answers for herself and others in her situation. What began as an informal network of family and friends quickly grew into a national charity, which today supports over 1,200 families.
Unmet clinical need in mitochondrial disease
One of the biggest frustrations of families is the ‘We don’t know what this is’ aspect of the disease, explains Katie Waller, the Science and Patient Engagement Officer at The Lily Foundation. “Yet, 1 in 5,000 births will develop a life-threatening form of mitochondrial disease.”
Mitochondrial disease refers to a group of disorders that affect the mitochondria, which are tiny compartments present in almost every cell of the body. There are currently over 350 known genes that can be involved in mitochondrial disease, with new variants continuing to be discovered. Some types of mitochondrial disease — TK2d, for example — are well understood. However, types with less straightforward and varied symptoms are still being studied, leaving patients with undefined clinical courses.
Specialised support services provide ongoing
support to patients and families, including
creating family and patient events.
Mitochondrial disease in children and adults
“It can affect anyone at any age, but often, there is an acute presentation in children, leading to them going into paediatric intensive care. This can mean a faster track to diagnosis,” explains Waller. In contrast, an adult patient may wait several years for a diagnosis because they might present with other conditions like deafness or diabetes. “Often, nobody puts the pieces together, which is down to a lack of awareness in community medicine. It’s heartbreaking to hear of patients being bounced between different medical departments,” says Waller.
Advantages of the patient community
She adds that: “The Foundation’s role in bridging this gap has been huge. By building a patient community, we can give families the information they need to understand the disease.” Their specialised support services provide ongoing support to patients and families, including creating family and patient events.
They are also set to appoint a care advisor to signpost people to medical services, a welfare and benefits advisor, plus psychological support services. They are the largest charitable funder of the disease in Europe with £3 million donated to research diagnostics and treatment.
Expanding research channels
With no known treatments and symptoms often hard to pin down, international research is critical to obtaining the best medical support for patients. “This allows us to pool our resources with researchers across Europe and further afield,” explains Waller. The Foundation is part of a network of clinicians, industry partners and patient groups developing natural history data so that laboratory testing for potential treatments for Leigh Syndrome can take place.
The Lily Foundation also sits on GENOMIT, which is a global network of national centres working closely with patient organisations to improve the care of patients with mitochondrial disease worldwide. Research such as this — as well as dedicated centres of excellence in London, Oxford, Newcastle and Cambridge — give patients and families hope for the future. Waller concludes: “The connection that patients have with researchers makes a huge difference. When we bring researchers to our annual family weekend, they often say, ‘I’m no longer just working with blood samples but for the families to have better outcomes in the future.’”
This page has been funded by UCB, but editorial control lies with the contributors. UCB only performed a medical accuracy review but was not otherwise involved in the content.
IE-DA-2300094, date of preparation September 2023
