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 Facebook groups run by families with children with Rett. I've connected with one mom who lives minutes away. Since Ben has never had a definite diagnosis, I didn't have a community to join. It's strange and liberating to have other families who can relate to Ben's condition. We'd always joked that Ben had his own special diagnosis.
I am proceeding slowly as we gather information and learn about Rett Syndrome. We still need to be sure Ben has Rett Syndrome based on genetics and markers. Once we discuss the pros and cons, we could try DayBue with Ben.
Ben meets with a Rett Syndrome expert at the Greenwood Genetic Center next month. I also sent in a DNA sample to the clinic to see if I am a carrier for the MECP2 mutation. Most likely I am not, and the mutation happened de novo, meaning, it just happened and was not inherited.
I've added Ben to a registry in a Diagnostic Experience of Male Rett Syndrome study at the University of Colorado and offered his medical records for a natural history study through the Rett Syndrome Research Trust.
As we move forward, I will keep you updated on our progress.
Here are two resources I've found:
If you want to go deep into the literature, here are two articles to get you started:
Photo: Ben laying in his favorite spot on the couch watching "Bob the Builder" with our new puppy, Bailey.