Imagine a life where every movement and breath you took come with a struggle, where simple tasks become monumental challenges.

This is the daily reality for Fanny, who is living with thymidine kinase 2 deficiency (TK2d), a primary mitochondrial myopathy (muscle disease) that is tragically life-threatening.^1,2

Fanny no longer has the ability to speak. She can no longer eat, chew, and swallow, and requires a feeding tube. The food, prescribed by hospital nutritionists, is administered four times a day by her primary caregiver, her mother, Luz. Watch Fanny and Luz’s rare disease journey here.

For people like Fanny and Luz who are living with TK2d, collaboration among patients and caregivers is essential to ensuring their lived experiences shape the future of care.^3,4

This is especially important in the case of TK2d, where the disease shares symptoms with many other diseases, so there may be people living with TK2d who have not been diagnosed.  Genetic testing can provide an accurate TK2d diagnosis.

A referral to a neurologist led to a consult with a geneticist who ordered whole-exome sequencing – resulting in Fanny’s diagnosis of TK2d.

UCB is proud to amplify the voices of people such as Fanny and Luz, and be part of the mitochondrial disease community to recognize Mitochondrial Disease Awareness Week and TK2d Awareness Day. Patients are the heart of everything we do and at UCB, we are committed to further the understanding of this rare disease.

The content of this article is intended for a U.S. audience only.
 

©2024 UCB, Inc., Smyrna, GA 30080. All rights reserved. US-MT-2400029

References

1. WANG J, EL-HATTAB AW, WONG LC. 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; DECEMBER 6, 2012. UPDATED JULY 26, 2018. ACCESSED JULY 30, 2021.

2. LOPEZ-GOMEZ C, LEVY RJ, SANCHEZ-QUINTERO MJ, ET AL. DEOXYCYTIDINE AND DEOXYTHYMIDINE TREATMENT FOR THYMIDINE KINASE 2 DEFICIENCY. ANN NEUROL. 2017;81(5):641- 652. DOI:10.1002/ANA.24922/

3 DE BARCELOS IP, ET AL. CURR OPIN NEUROL. 2019:32(5):715-721./

4. MOORE M, ET AL. NAVIGATING LIFE WITH PRIMARY MITOCHONDRIAL
MYOPATHIES: THE IMPORTANCE OF PATIENT VOICE AND IMPLICATIONS FOR CLINICAL PRACTICE. J PRIM CARE COMMUNITY HEALTH.
2023;14:21501319231193875