The story of Michelle Doty
My daughter, Campbell, was just diagnosed with a rare genetic syndrome called Bohring-Opitz Syndrome (BOS). This actually came as a relief of sorts because she had been undiagnosed for over ten years. Just a few months shy of her eleventh birthday, we received the results from whole exome sequencing that revealed she had a mutation on the ASXL1 gene. These findings, along with her clinical symptoms, lead to a diagnosis of BOS. There are fewer than 60 cases in the world, but people are being diagnosed almost every week. We are hopeful through research that more information will be gathered about this rare disorder. Currently, Campbell’s biggest issue is seizures. She is a strong and brave girl that has faced more than most but lives each day to it’s fullest. We support the efforts of Rare Disease Day and know with research, possibilities ARE limitless!