- How did you first become involved with the mitochondrial disease community and The Lily Foundation?
In 2004 I became a first-time mum to a baby girl called Niamh. Our first few weeks were idyllic. She slept through the night and barely ever cried. However, my world turned upside down when at 7 weeks old, she had her first seizure. One seizure soon became many, and by the age of 1 year she was having 100+ seizures a day and was very unwell. Initially she was diagnosed with complex epilepsy, but by the age of 3, other organs had started failing and after many tests we were given a diagnosis of Leigh Syndrome. Niamh passed away in 2009 aged only 4.
Despite having a medical background, I struggled with the fact that there was so little we could do to help Niamh, and I felt compelled to change this journey for others. I knew I was well positioned with my medical understanding and direct experience of mito to be able to make a difference, and I was strongly motivated to do so. I reached out to The Lily Foundation’s Founder and CEO, Liz Curtis, who had recently set up the charity to see how I could help. Initially I came on board in a patient support role, but quickly moved my attention to research as this is where I saw I could have the biggest impact.
13 years later I am still as committed as the day I lost my daughter and am determined to help pave the way to better treatments, and one day a cure, for all patients with mitochondrial disease.
- Tell us about The Lily Foundation, how it started and the work it is doing to support individuals and families living with mitochondrial disease.
The Lily Foundation was founded in 2007 by Liz after her daughter Lily died from mitochondrial disease aged eight months. At that time, very little was known about the condition, and there was no real support available to those affected by it. Liz wanted to change that, so she set up the charity to ensure others in her situation were not left feeling so isolated.
The charity started out providing families with information and emotional support, and that’s still a big part of what we do. In the longer term, our goal is to find effective treatments, and ultimately a cure, for mitochondrial disease. We are very proud to be the largest charitable funder of mitochondrial research in Europe. We also work to raise public awareness about the condition and play an active role in the global scientific community, ensuring a patient-first approach to research and new drug development.
- Why is it so important for organisations like The Lily Foundation to fund mitochondrial research?
Currently there are no medicines available to treat people with mitochondrial disease. That needs to change, and the way to do that is through research. So far, it’s fallen on charities like ours to fund research, as mito has been understood as a rare disease and so hasn’t benefited from the same level of research funding as other areas of medicine. Thankfully that is now starting to change, as we’re finding strong evidence that links mitochondrial dysfunction to diseases such as Parkinson’s, Alzheimer’s, epilepsy and strokes, which affect millions of people. So there is even more reason to increase funding.
The other important reason for us to fund research is that it ensures a patient-first approach to new drug development. Patients and their families are the real experts on their disease; we need to listen to them and set research priorities accordingly. By being selective about where our funding goes, we can ensure that patient needs are met all the way through the drug development process, from setting research priorities to gathering data and designing clinical trials. Successful research depends on patients, clinics, scientists, and drug companies working together. It’s a global effort, and we play an important role in linking those different groups together in a way that benefits patients.
- What role do you see The Lily Foundation playing in the fight to improve the quality of life for people with mitochondrial diseases?
Our core mission is to support those affected, raise awareness, and fund research to find a cure. Those are ongoing goals, but we are also making a positive difference every day. We often talk about ‘the Lily family’, because that’s what our charity feels like; a group of people who are there for each other, working together for a common cause. The families we support, many of whom have endured terrible loss, tell us that the sense of hope and togetherness they get from their involvement with the charity makes a big difference.
We are also changing lives through research. We helped change the law to make it possible for women with mito to have healthy babies using advanced IVF techniques such as mitochondrial donation. We have also improved diagnosis of mitochondrial disease, making it less invasive and more accurate. Lily Exome Sequencing made it possible for patients to trace the exact genetic path of their disease and paved the way for the NHS in England to become the first national health care system to offer whole genome sequencing as part of routine care. So, it’s about highlighting where there is a need and being that driving force for change.
- Why do you think it is important to raise awareness of mitochondrial diseases through campaigns like Rare Disease Day and Mitochondrial Disease Awareness Week?
We always say that every week should be World Mitochondrial Disease Week! Raising awareness is important for many reasons. Firstly, ignorance leads to isolation because people aren’t comfortable talking about what they don’t understand. If you have cancer or diabetes, most people will know something about that. But tell someone you have mitochondrial disease, and people tend to panic and not know what to say. So, it gets avoided.
Better awareness also means better detection and diagnosis. Unfortunately, even some GPs and non-specialist clinicians still won’t think to consider mito when assessing a patient. Any organ in the body can be affected by mito, so symptoms can often look like other conditions, and as yet there is no quick blood test you can do to test for it, so it often gets overlooked, leading to misdiagnosis, incorrect medication or a merry-go-round of clinical tests. In the worst cases, patients can go for years before finally getting the clarity of a diagnosis. Things are improving, but there’s still a lot of work to be done to educate and inform.
And last but not least, raising awareness drives research. In recent years we’ve seen a huge increase in mitochondrial research, and that has only come about because people have worked tirelessly to draw attention to the issue. This is a really exciting field of science, with huge clinical implications that we’re only now beginning to understand, and a very urgent need for effective treatments and therapies. We need to keep shouting about it, keep getting the message out.
- What are your hopes for the future for the mitochondrial disease community?
Finding a cure is going to take a collective global effort, so my hope is that we can keep building bridges, sharing knowledge and collaborating. When we take part in international mito conferences it’s very encouraging to see researchers, charities, drug companies and patient groups working together and learning from each other. What we need is a strong, unified, international effort with a consistent, clear message. We are getting there!
- What advice would you give to patients and families affected by mitochondrial disease?
Getting a diagnosis of mitochondrial disease can be frightening and confusing and leave you feeling overwhelmed. It’s important to remember that everyone is affected differently, and that help is available. Our charity offers emotional support, information, and advice you can trust, and a community of people who will know something about what you’re going through. It can be really hard to make that first step and ask for support, but you don’t have to go through this alone.
Follow The Lily Foundation: