First Ever Mitchell Syndrome Summit
Originally, it was just going to a small meet-up of Mitchell-Moms for friendship and support. But as plans came together, it became something more: The first ever Mitchell Syndrome Summit at Houston Methodist Hospital.
This past week four Mitchell Syndrome families convened at Houston Methodist for two days of friendship and celebration at the first ever Mitchell Syndrome Summit. The Herndons, Lajaunies, Morars, and Garczynskis—with kids!—met together for the first time to share notes and give hugs. We enjoyed some Texas BBQ and relaxed by the Lajaunie pool. And we were hosted by the good people at Houston Methodist Hospital, where we—along with several other Mitchell Syndrome families zooming in from around the country—met with scientists and researchers to discuss the latest research. Thirty of us—doctors included—listened to Foundation Scientific Advisor Dr. Hyung-Lok Chung present his findings on Mitchell Syndrome. Following the presentation, we toured his new lab at Houston Methodist, where Dr. Chung plans to research the efficacy of riboflavin treatments (and other medicines) on children suffering from this rare and fatal disease.
We also presented Houston Methodist Neurology Department Chair Dr. Jun Li our first $25,000 donation of an initial $50,000 pledge to conduct this very important research.
Included in this whirlwind trip was an amazing home-cooked meal of authentic Korean food at the home of Hyung-Lok (Lok) and his wife, Julia. In 2017, while working with the Undiagnosed Diseases Network as they sought to identify the cause of Mitchell Herndon’s neurological problems, Lok was the first scientist to identify ACOX1 gain-of-function (Mitchell Syndrome) in fruit fly models. This skilled and kind-hearted scientist took an interest in the illness, and in Mitchell Herndon himself. “As I followed Mitchell on social media,” Dr. Chung said, “I came to learn what kind of person Mitchell was. He became like a little brother to me. I wanted to do what I could.”
It was an incredible blessing to finally meet this man who worked so hard to save our son’s life. Six years later, Lok is still dedicated to the cause. He was honored to meet some of the kids fighting Mitchell’s battle. And for their part, the Morars, Garczynskis, and Lajaunies were grateful to get to know one of the many warrior-scientists working diligently to give their kids hope.
Thanks to Dr. Chung for his efforts, and to Drs. Bob Bucelli, Kathleen Schoch, Tiphanie Vogel, Jun Li, and Michael Wangler for their participation. Thanks also to Molly Simpson at Houston Methodist for her amazing hospitality. And thanks to YOU for your help in making this possible. We are a long way from a cure from Mitchell Syndrome, but the journey continues to surprise us, and with supporters like you, we can surely defeat this, the rarest of rare diseases.
