UCB: Proud to Mark #TK2dTuesday and Recognize Challenges and Unmet Needs Faced by Families Living with TK2d | UCB
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UCB: Proud to Mark #TK2dTuesday and Recognize Challenges and Unmet Needs Faced by Families Living with TK2d

Posted by
Donatello Crocetta, UCB Rare Disease Organization
13-Sep-2022

 

Every family who lives with rare disease has experienced formidable challenges while playing a key role in the journey for treatment and a cure. As the healthcare industry aims to uncover more around rare diseases, the important role that community plays for rare disease families is pivotal as each find their way in a new reality, advocate for one another and help educate the wider healthcare communities to be a part of the solution. 

That’s why we’ve made it a top priority at UCB to support families living with rare diseases. We’re committed to growing our knowledge of these diseases, pursuing new treatment options, and advocating for rare disease communities.

An important area of focus for us is thymidine kinase 2 deficiency (TK2d), a rare and debilitating infantile onset genetic mitochondrial disease which can be life threatening. Symptoms include severe muscle weakness as well as loss of motor and respiratory functions. This can impact a patient’s ability to walk, eat, and breathe independently and, in some cases, may lead to an early death.

TK2d results from a mutation in the TK2 gene that reduces the production of an important enzyme, thymidine kinase 2 (TK2). TK2 plays a key role in proper functioning of your mitochondria, which provides the energy that powers many critical body functions. 

Because doctors still have limited information on TK2d — and because many other diseases have similar symptoms — it can take a long time to diagnose the disease. According to a 2018 survey, 55% of patients received a different diagnosis before being correctly diagnosed with a mitochondrial disease, and 32% of those patients had multiple misdiagnoses. Fortunately, genetic testing is now available, offering a quicker path to diagnosis. 

While healthcare providers can help manage symptoms, there are no FDA-approved therapies to treat TK2d today. 

The good news is there are several clinical trial programs underway for TK2d and other mitochondrial diseases. At UCB, we’re working to advance the understanding of TK2d and raise awareness of the families affected by it. On TK2d Tuesday, I hope you’ll join us in showing your support and spreading the word. 

Visit our Rare Diseases page to learn more about UCB’s commitment to rare disease. 

 

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