What is TK2d and what are the symptoms?
TK2d is a progressive form of mitochondrial disease that leads to severe muscle weakness and respiratory complications. It can affect people of any age, and while symptoms and progression may vary, the burden on patients and families is consistently high. Those affected experience significant challenges with mobility, breathing, swallowing, speech and energy levels, as well as the emotional, social and financial pressures that come with managing a long-term, life-limiting condition.
Awareness days like today provide us with a vital opportunity to spotlight the experiences of those living with TK2d. Behind the science and statistics are real people, and it’s their voices that are helping to change the future of mitochondrial disease care and treatment.
Find out more about what it’s like to live with TK2d by watching this video that’s been created by IMP (International Mito Patients).
Understanding the human impact of TK2d
This summer, our Head of Patient Programmes, Katie, presented new research at the European Paediatric Neurology Society (EPNS) conference in Munich. The findings came from the Assessment of TK2d Patient Perspectives (ATP) study, a global project shaped by both clinicians and patients which looked at the real-life impact of TK2d on those living with the condition and caregivers.
The research revealed that TK2d places a significant burden on individuals of all ages, no matter when symptoms begin. Across the board, patients described debilitating physical challenges and serious psychological strain that profoundly affect their everyday lives and overall wellbeing. One adult patient put it simply:
“Living with TK2d isn't easy. It's daily survival and coping with extreme tiredness, difficulty breathing, swallowing and speaking… coping with emotions day to day, all the while being hopeful of better days ahead.”
Personal insights like this help provide a more complete understanding of the disease and are increasingly recognised as a vital source of real-world evidence to inform treatment pathways and support services.
Supporting future treatments for TK2d
The insights gathered through this research will now help inform a patient group submission to NICE (the National Institute for Health and Care Excellence), supporting the review of a potential treatment for TK2d. The Lily Foundation are teaming up with Metabolic Support UK and Genetic Alliance UK to ensure that real stories and lived experiences are at the heart of the submission, highlighting what matters most to patients, from emotional wellbeing and independence to education, work and relationships.
Advocacy like this is central to our mission. When patients are heard, treatments become more compassionate, decisions become better informed and the path to progress becomes clearer.
What TK2d tells us about living with mitochondrial disease
Although TK2d is rare, the experiences of those affected are echoed across the wider mito community. Many families face similar challenges, from managing multiple complex symptoms to navigating the emotional and financial strain of daily life.
That’s why awareness days like today matter. We’re proud to stand by everyone affected by TK2d and all other forms of mitochondrial disease. At The Lily Foundation, we remain committed to listening, learning and ensuring the patient voice is heard through research, advocacy and ongoing support.
Raising awareness of TK2d and mitochondrial disease
World Mitochondrial Disease Week kicks off next week (15th–21st September), and we’re gearing up to shine a global spotlight on all mitochondrial disorders. There’s lots happening online and across the country, so please get involved this year and help put mito on the map wherever you are!
Because awareness is the first step towards change. And by listening and sharing real patient stories, we can ensure no one has to face mito alone.