UPDATE: About two months after writing this post, we visited a genetic center in South Carolina and got a true diagnosis for Ben. He has a rare genetic disorder called POLR2A. Ben also has the MECP2 anomaly but when I was tested, so do I and one of Ben's brothers. It was determined that this genetic change was not the root cause of Ben's disability. - - - 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...
These stories describe our journey with Ben, our oldest son. Ben is a sweet and energetic redhead, born with POLR2A, a rare genetic change. 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.