by Candice Samples-Morris
Many families that receive a Rett Syndrome diagnosis often get it after months of worry, a multitude of tests, numerous doctor appointments, hundreds of questions, and countless prayers for an answer to what has stolen so much from their child. Finally, an answer comes like manna from heaven, well maybe a bit more bitter tasting, that we have a definitive cause. Something to pinpoint as the root of all their problems. A defined diagnosis, with specialists, a multitude of families, a Facebook presence, and some direction, albeit a bit difficult to traverse at times. Rett Syndrome is defined, it has parameters, expectations, and a sketchy road map. But what if we redefine the diagnosis? What it means in the medical community, what it looks like, what their life can be, and turning the world of Rett Syndrome upside down.
Since my daughter’s diagnosis in 2013, many advancements have been made in education/communication with the help of Rett University. Strides toward gene therapy treatment are happening, and Daybue, the first drug exclusively for Rett Syndrome, has been approved. These are big wins in our community. They help us prove that our kids are more than what is still being taught in medical schools around the world. That said, I feel it is time we, as the families living with this disorder, REDEFINE Rett Syndrome. Let’s show the world all of the amazing things that our children can achieve with the right support.
I’m constantly surprised when people compliment me for taking my daughter out as often as I do and making the effort to include her in what some may consider impossible activities due to her physical restrictions. To me this is our life. We have never lived any other way. She needs a wheelchair to be her legs, a communication device to be her voice, and her mom to get her from point A to point B. It’s not always an easy task, but we give 110% to each endeavor to ensure it is as successful as possible.
One of those adventures included skiing at Snowshoe Mountain. We traveled in our van through a snowstorm on icy roads behind snow plows. That was a bit intimidating for this Florida girl that has never experienced snow on that level. But it was for Evie, so we were going to just take our time and be safe. After two days, we arrived at our destination, and once we unpacked her entire bedroom (seriously, I took almost every piece of equipment we owned), the excitement of what was to come washed over us. Okay, so Evie slept, but mom was super stoked.
After coffee, snow suit fitting, and a warm breakfast, we were ready to shovel snow from behind the van and go to the cabin for the Challenged Athletes of West Virginia. The snowstorm gave us the most beautiful, soft white powder I’ve ever seen. Evie’s first skiing session started bright and early. Once she was fitted to a ski sled, got her a helmet and goggles on, and secured her hands, she slid out onto the frigid cold mountain. After a few test rides near the cabin, it was time to take her to the ski lift. This was her least favorite activity, and I could hear the team singing bits of her favorite song trying to soothe her.
She hit the slopes, slow and steady the first time down. She got a feel for what they were doing and started to enjoy the experience. The faster they went the more she liked skiing. The team was so attentive to her and her poor momma who couldn’t ski to save her life. They made this experience even more memorable. We came away from that trip knowing that we reclaimed something critical for ourselves. We were responsible for defining what Rett Syndrome was for us.
When we tell people she has been skiing, there is always a flash of shock because she uses a wheelchair. Not many people would know that there is adaptive equipment that allows people like Evie to have such an adventure. This is an example of how we choose to REDEFINE Rett Syndrome. Pushing the boundaries of what we can do and living our best life.
