Smith Magenis Syndrome

Meet Ezra.  He receives services here at Pediatric Interactions, Inc.  We wanted to introduce this special, young man to you.  Ezra is a joyful, and loving 9-year-old.  He loves to dance and play musical instruments.  Ezra is an accomplished tap dancer and loves to make origami in his free time.  This amazing, young gentleman was born with a very rare disorder called Smith Magenis Syndrome.

Smith Magenis Syndrome (SMS) is a rare, congenital disorder that impacts approximately 1 in 15,000-25,000 individuals.  It affects both males and females alike.  In 90% of instances, it results from a missing or deleted portion of the short arm of the Chromosome 17 (17q 11.2).  The resulting SMS is a complex developmental disorder that is characterized by a pattern of behavioral, and cognitive problems.  Some symptoms include distinctive facial features, skeletal malformations, varying degrees of intellectual disabilities, speech and motor delays, sleep disturbances, self-injurious behavior, and/or attention-seeking behaviors.

What do you want people to know about Smith-Magenis Syndrome?  SMS is very rare - less than 700 known cases in the world. Like every syndrome, there is a range of behaviors and physical traits and each kid is unique! Typical with his syndrome is an AMAZING memory. He can meet someone once and will remember their name or any other details from then on. He memorizes words easily and is fascinated by other languages. He has a great sense of humor and a way of looking at the world. Life with a rare syndrome can be hard because there is so much they don't know or how to treat. But at the same time, he, like any other kid, has successes and failures, challenges and gifts, simplicities and complexities that can't help but impact the lives of those around him in a beautiful way. He is a gift.

Ezra’s Mom, Betsy, describes one challenge that Ezra has overcome: There are little challenges that Ezra overcomes every day, but a bigger one happened this past winter. Ezra loves music and dance and is really motivated by it. He participated in music class this year with typical peers for the first time. They had a small concert in March and usually, crowds of people, noise, and pressure mean sensory overload for Ezra. I watched stunned as he not only participated in the entire concert with his class but also performed a drum solo during one of the classes. He looked up while playing the rhythm on the drum and smiled at the audience - a display of charm and confidence that threw all my fears of his sensory overload out the window. It might seem like such a simple thing, but it was huge for him. We are very proud of this accomplishment!

When asked how SMS has impacted their life and how they have dealt with it, Mom talked about this common difficulty associated with SMS:  The piece of missing genetic material with SMS is what regulates melatonin, so his disordered sleep patterns impact, confound, and amplify behavior and health issues. He has a lot of sensory issues and can have exaggerated outbursts when he's frustrated, overloaded, or surprised. Sometimes we have to choose what activities we can participate in based on Ezra's ability to handle them. Or, we need to always have a quick exit strategy if Ezra stops being able to handle things anymore. Ezra is very, very smart and can play off of emotions given to him - so we've learned how to remain calm and ignore outbursts early which can help him regulate. We also have all learned ways to anticipate his triggers and redirect things before they happen. His younger sister is particularly good at this. Sometimes the dynamic is frustrating and limiting, but there are also so many times when he will turn things around or surprise us!  "Your brother's weird," a friend said to Ezra's sister one day, overhearing him beatbox. She replied "No. He just makes funny noises." Difference isn't bad - it can be funny sometimes too!

For more information on Smith Magenis Syndrome (SMS) go to www.PRISMS.org