Raising Awareness, Building Hope: Cultivating Support and Solutions for the TK2d Community

September brings two important milestones for the Thymidine Kinase 2 Deficiency (TK2d) and mitochondrial disease community – TK2d Tuesday and World Mitochondrial Disease Awareness Week. This is a time when the TK2d and broader mitochondrial disease communities come together to educate people about rare, but serious, conditions like TK2d that impact the body's ability to produce energy at the cellular level. At UCB, we are committed to understanding the daily challenges faced by people living with TK2d and aim to shed light on their unmet needs.

Cristy Balcells, Global Patient Engagement and Advocacy Lead and Donatello Crocetta, UCB’s Chief Medical Officer & Head of Global Medical share their thoughts on how raising awareness for TK2d can help foster greater community support for people living with the disease, and how we can help make a positive impact for them, now and into the future.

Q1: Why is it important to continue raising awareness of TK2d?
Donatello Crocetta: Put simply, TK2d can have a profound impact on all aspects of people’s lives and their overall quality of life. TK2d is an ultra-rare, life-threatening, genetic mitochondrial disease characterized by progressive and severe muscle weakness (myopathy) that can worsen over time and lead to significant challenges, impacting people’s ability to walk, eat, and breathe independently. TK2d has an extensive impact on physical and mental health. The condition is difficult to diagnose and is often misdiagnosed as a disease with similar symptoms to conditions such as Pompe disease, spinal muscular atrophy (SMA) and muscular dystrophy.

Cristy Balcells: Individuals with TK2d often face a long path to diagnosis, seeing an average of 8 different physicians over 8 to 10 years before getting a diagnosis, delaying the right disease management and support. As the condition can progress rapidly, early diagnosis is crucial - by bringing attention to TK2d we can encourage earlier diagnosis that can lead to earlier intervention and improved outcomes.

Q2: What are the unmet needs of those living with TK2d?
Donatello Crocetta: One of the greatest challenges for people living with TK2d is a lack of options. The current standard of care is limited to supportive care – wheelchairs, feeding tubes, breathing support – and symptom management, but unfortunately, it does not address the underlying root cause of disease.

Cristy Balcells: Many people living with TK2d face unrelenting worries about their disease progression and concerns around their day-to-day and future care. This impact is also felt by caregivers, who face financial, emotional, and social challenges. Relentlessly progressive muscle weakness threatens survival, especially in children. With this sense of urgency in mind, UCB is leading and collaborating on initiatives that characterize the disease and strive to improve standards of care, aiming to help improve the lives of all those affected by TK2d.

Q3: How does UCB’s patient-centric commitment create impact for the TK2d community?
Cristy Balcells: As a team, we are focused on listening to and learning from the TK2d community, always aiming to ensure that our work and solutions align with people’s real-world needs. Over the years, we’ve had the privilege of partnering with mitochondrial disease and TK2d advocacy groups, patient organizations and healthcare providers. Their experiences and insights are integrated into our strategy and decisions. We aspire to support the TK2d community by working together to generate awareness of the condition and characterize the unmet needs they are facing.

Q4: What does the future hold as UCB continues to work with the community to understand and address TK2d?
Donatello Crocetta: Awareness days and weeks like those we are celebrating this month are incredibly important moments to shine a light on rare communities that are far too often overlooked. They also remind us of the importance of our research, such as our efforts to increase our understanding and knowledge of the disease course of TK2d and the true impact of the disease on patients and carers. Every day, we are inspired by the resilience of those living with TK2d - we remain steadfast in our commitment to them and working for a better future by bringing new understanding and solutions to those in need.

Learn more about UCB’s work here: https://www.ucb.com/solutions/diseases/tk2d