The Cure Mito Foundation, a parent-led organization dedicated to advancing research and treatments for Leigh syndrome, has launched the first-of-its-kind online resource about Leigh syndrome, the most common type of pediatric mitochondrial disease.
The free resource, "About Leigh Syndrome" (https://www.aboutleighsyndrome.com), serves as a central place where patients, caregivers and doctors can find information on Leigh syndrome, including its symptoms, diagnosis, treatment options, and more. Translation to multiple languages is available to ensure accessibility for the international community. The site also highlights important initiatives for the entire community, such as Leigh syndrome global patient registry (https://www.curemito.org/leighsyndromeregistry).
The goal and vision behind the project was to create a website that provides accurate and reliable medical content, along with an appealing layout, colorful design, user-friendly features, engaging graphics, and pictures of families and children. It's dedicated to being a platform where individuals can find support, resources, and feel seen (not just as patients, but as people).
The Cure Mito Foundation invited the community to join the effort, which created collaborative work and input from patient families and professionals across multiple specialties.
Dr. Ibrahim Elsharkawi, MD, current metabolism fellow at Harvard Medical School and incoming Assistant Professor at Mt. Sinai, who donated many hours to help review and edit medical information presented in the new resource, said: "I did a dedicated mitochondrial medicine fellowship after my pediatric genetics training in order to learn how to provide a holistic, comprehensive approach to treating patients and helping families touched by mitochondrial disease. It is deeply meaningful to me", Elsharkawi continued, "to have been able to partner with families and science experts to play a small role in shaping this resource, which will hopefully provide families and patients with information that empowers them when they receive this life altering diagnosis, when things may seem overwhelming and confusing."
Leigh syndrome is a rare and progressive genetic disorder primarily affecting the central nervous system, causing developmental regression and neurological symptoms. While information about Leigh syndrome exists, it is often difficult to find and not presented in a patient-friendly or easily understandable format, making the situation hard for families seeking help, especially when newly diagnosed or shortly after.
Kasey Woleben, Cure Mito co-founder and a mom to Will, who has Leigh syndrome, said: "When my son was diagnosed with Leigh syndrome 9 years ago, I would have loved a resource like this solely dedicated to the disease. Our family didn't have much hope - now we do. We hope that this resource will continue to grow and help many families facing this disease. Having a united Leigh syndrome community is so important for the advancement of research and hopefully a treatment for our children and the future children. We are beyond grateful to all who believe in our vision, partner with us, and support and encourage us on this journey. Together we will change the world. "
Updates on this and other projects will be shared at the virtual annual Leigh syndrome symposium in September.