Description
ADSSL1 myopathy is a recently identified ultra-rare disease affecting the muscular system that is thought to impact only a few hundred people worldwide. There is currently no treatment available, although Cure ADSSL1, in conjunction with their collaborative research network, are working towards one. Join us in -person or virtually over lunch, and wear your Rare Disease Day zebra stripes, to learn about rare neuromuscular disease from the patient perspective. Priyanka Kakkar and Naveen Baweja are rare disease parents and advocates, who, upon learning of their children’s diagnosis, formed a global patient organisation and took a deep dive into the research on metabolic myopathies to establish a cross-continental research network geared toward improving the lives of patients. Their story is sure to inspire!
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