In 2012, after conducting a blood test on Ben, GeneDx reported that he tested positive for a mutation on the MECP2 gene on the X chromosome. The summary also said the information was inconclusive for Rett Syndrome . I didn't have the mental capacity to find out what all of it meant. I realize now, that even if I had, I wouldn't have found much of anything about Rett Syndrome in males. The research didn't exist yet. It has since blown up. About a year ago, I researched Rett Syndrome in males and reached out to a few doctors conducting successful clinical studies on mice. They returned my emails immediately and added Ben to a list. I forgot about it for another year. Two weeks ago, I looked up Rett again. I found much more information, including a new drug, DayBue . It was approved by the FDA and released in March 2023. I emailed a different set of doctors and they connected me to experts in the field of Rett, clinical studies and family resources. I discovered a few Fac
These stories describe our journey with Ben, our oldest son. Ben is a sweet and energetic redhead, born with Rett Syndrome, a rare genetic mutation. My husband, Ryan, and I try to keep up with Ben and his two younger brothers. I intend to shed insight into raising a child with disabilities and pass on the wisdom we’ve earned over the past two decades.