A spotlight on TK2d: why earlier answers matter for families living with an ultra-rare disease

https://rarerevolutionmagazine.com/a-spotlight-on-tk2d-why-earlier-answers-matter-for-families-living-with-an-ultra-rare-disease/ Cristy Balcells, Global Patient Engagement Lead, Rare Diseases at UCB, and Fabian Somers, Vice President Asset Head Rare and Ultra-Rare Diseases at UCB, discuss the human impact of thymidine kinase 2 deficiency (TK2d), the importance of listening to those affected, and why genetic testing can be a critical step towards earlier diagnosis and more appropriate care TK2d: an ultra-rare mitochondrial disease Thymidine kinase 2 deficiency (TK2d) is an ultra-rare, life-threatening, genetic mitochondrial disease that can affect the parts of the body that need the most energy—the muscles, heart and brain, and often results in premature death.1–6 Characterised by progressive and severe muscle weakness known as myopathy, TK2d can make everyday activities, like walking, eating and even breathing, increasingly difficult and sometimes impossible.2-6