Today is Emanuel Syndrome Awareness Day (11-22)

Today is Emanuel Syndrome Awareness Day (11-22)

By: Scott Richards, Parent

Steven has Emanuel Syndrome.

Emanuel Syndrome is an unbalanced translocation of chromosomes 11 and 22. Therefore is recognized each year on November 22.

Scott shares a story to bring awareness to this day.

My favorite memory of Steven was the day he "let go" and walked independently for the first time.

It was Christmas Eve, 22 years ago in the year 2000. We were spending Christmas with Sherry's family in Barrie, Ontario. There wasn't much space for Steven to move around in his walker at Grandma's house. He used a large square metal frame walker, with castors at the four corners of the base, and with a padded hoop around his chest. He was pretty good at scooting around our house in it, but Grandma's didn't have much space.

We bundled up and I drove over to the local shopping mall for some exercise. At that time Steven would walk well if I held one hand or the other, or both. His balance was not great, and with the rigid AFO's his gait was quite akin to Frankenstein. I needed to be alert for any changes in grade, floor texture, floor colour, metal thresholds, sidewalk cracks and steps-because Steven was unable to distinguish such changes as being hazardous. When walking him and such a change was at hand, we would stop and provide a cue to step over or up carefully.

Being Christmas Eve, the mall was quite busy with last minute shoppers. After parking, Steven and I walked through the slushy parking lot and into the mall. Once inside I had him sit on a bench to remove his snow boots and coat and put them in the backpack.

Prior to that day, Steven had never taken independent steps.

On this day however, Steven was more inquisitive than usual. For some reason the circular racks of clothing on sale for Christmas drew his attention, and he would pull me towards them so he could look closely at the colours, feel the textures, and touch the tags. If there was any back-lit signage he would pull me over to touch and tap them- such was his pleasure.

As we walked along, I hoped to avoid a particular clothing rack that held some more expensive items and began leading Steven around it in a wide arc. Surprisingly, he shook away my hand and took two tentative steps toward his target before I got a hold of his hand again. I thought he had done this intentionally, but I wasn't sure.

It was getting close to suppertime, so we worked our way back to the mall entrance. Along the way he again shook away my hand to step toward something. This again seemed intentional, but I wasn't sure.

I parked Steven on the bench and got his snow boots, winter coat and toque on him. Directly across from this bench was situated a brightly lit Jewelry store. As soon as I got Steven to his feet, he was off, all on his own, towards that store entrance. When he had crossed the tiled floor of the mall, he stopped at the point where the tile ended, and the carpet of the Jewelry store began. Steven carefully raised his left foot and stepped onto the carpet, as if it may have represented a change in height. Steven then took three more careful independent steps and slapped his hands on the glass display case filled with bright, beautiful shining trinkets. He also put his drooling face on the glass and smiled with joy.

I will always remember that Christmas Eve as the day Steven achieved his greatest skill, and with it the ability to explore, to choose, and to communicate his wishes.

Steven still wanders off when he's out with me, if only for a few steps on his own. His support workers get kind of freaked out when he wanders from the cart at Walmart or the grocery store. But for me it still makes me so very proud and happy for Steven, and if he is able, I want him to enjoy this taste of freedom.

Thank you, Steven, for this gift, my favorite Christmas memory.