To mark Thymidine Kinase 2 Deficiency (TK2d) Awareness Day and World Mitochondrial Disease Awareness Week, UCB is committed to creating patient value and impact for those living with this ultra-rare disease. UCB stands united with the patient and caregiver community in our efforts to deepen our understanding of the disease and raise awareness for the daily challenges of those living with Tk2d. 

In a fireside chat, Kimberly Moran, UCB’s SVP & Head of U.S. Rare Diseases, sat down with Cristy Balcells, Global Patient Engagement & Advocacy Lead, to talk about how TK2d is so rare, creating and becoming a part of the community is of vital importance to help staying informed, connected, and motivated.

Cristy – How does UCB’s commitment impact the TK2d community? 
Kim – It’s what I like to call “Patient-First.” It really starts off with awareness of the patient and their unmet needs, and then translating that into action. 

September is an important calendar date for the mitochondrial disease community. In the coming months, our team is participating in a number of community events around the country. These events are a way to show up for patients, and be there alongside them.

Our team’s approach is deeply rooted in the way we strive to fully understand the unmet need, and how to develop and innovate our potential solutions to align with their needs.  It is a co-creation process, shaped by the invaluable insights of advocacy groups, patient organizations, and healthcare providers. Partnering with key stakeholders has enabled us to tailor our potential solutions to address the barriers to care.

Patients deserve care, no matter how rare their condition.

Cristy – TK2d is ultra-rare so why should we care? From your perspective, why is it important to shine a light on TK2d?

Kim –  TK2d is a life-threatening, genetic 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.1,2,3  TK2d causes a wide variety of symptoms that can affect each person differently, but most patients experience muscle weakness.2,5 Moreover, if TK2d happens during childhood, children may stop achieving milestones like sitting up or walking and may begin to lose any milestones they did gain.4,5 Sadly, TK2d is often fatal.2

Our aim is to elevate the lives of these patients.

Cristy –As the team continues to understand and address TK2d, what does the future hold for UCB?

Kim –  Thymidine Kinase 2 Deficiency (TK2d) Awareness Day and World Mitochondrial Disease Awareness Week are such important moments to spotlight ultra-rare communities

It’s a reminder to remain steadfast in our commitment to all those living with mitochondrial diseases and TK2d. As we celebrate their resilience, we also celebrate our hope for the future as we continue to make a meaningful impact by bringing new solutions to those in need.

Learn more: https://www.TK2d.com.

References:

1. Thymidine kinase 2 deficiency. National Organization for Rare Disorders. Updated September 14, 2022. https://rarediseases.org/rare-diseases/thymidine-kinase-2-deficiency/. Accessed July 2025.
2. Domínguez-González C, et al. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency. Orphanet J Rare Dis. 2021;16(1):407.
3. Wang J, et al. eds. GeneReviews®. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.
4. Wang J, El-Hattab AW, Wong LJC. TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews®. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. [https://www.ncbi.nlm.nih.gov/books/NBK114628/]
5. Berardo A, Domínguez-González C, Engelstad K, et al. Advances in thymidine kinase 2 deficiency: clinical aspects, translational progress, and emerging therapies. J Neuromuscul Dis. 2022;9(2):225-35. [https://pmc.ncbi.nlm.nih.gov/articles/PMC9028656/]
        
   
   
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