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UNC Fast-Tracks Personalized Treatment for Twins with Ultra Rare Genetic Disorder


September 25, 2024


In May 2022, Yael Shiloh-Malawsky, MD, a neurologist at the UNC School of Medicine, met two new patients combatting a rare and fatal neurodegenerative disorder called Batten disease. With help from UNC, the twin girls were able to get personalized treatment from bench to bedside in record time.


When Karen and David Kahn’s daughters, Amelia and Makenzie, were born in 2010, they knew life with twins would be different. But after just 18 months, the Kahn family was forced onto an unexpected and harrowing path. Amelia began failing her speech and behavior milestones. At age two, she was diagnosed with autism. Then, at 7-years-old, both girls started experiencing unexplained vision loss and were declared legally blind.


Desperate to find a diagnosis, the Kahns reached out to a geneticist for testing, eventually learning that both girls had an extremely rare and progressive genetic disorder of the nervous system called juvenile Batten disease, or CLN3, for which there is no cure.


They refused to give in to the disease and worked to find a treatment, and now – seven years after diagnosis – the family is part of a first-in-kind clinical study at UNC Health, led by Yael Shiloh-Malawsky, MD, associate professor of neurology.


A New, Personalized Treatment for Two


Juvenile Batten disease is a rare neurodegenerative condition affecting as little as 1 of every 100,000 births. Around the age of six or seven, patients typically begin experiencing vision loss, followed by paralysis, cognitive decline, seizures, and loss of speech. Because the condition causes rapid brain cell death, life expectancy is from the teens to early twenties.







Daniels, K. (2024, September 25). UNC fast-tracks personalized treatment for twins with Ultra Rare Genetic disorder. Newsroom. https://news.unchealthcare.org/2024/09/unc-fast-tracks-personalized-treatment-for-twins-with-ultra-rare-genetic-disorder/

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