When I first met my wife Cole and her little boy, whom I nicknamed "The Littlest Buddy" (LB), Cole had been searching for a diagnosis for her son for over three years. She was looking for an explanation of his developmental delays, and wanting badly to know what his future might look like.
As LB grew, his delays became more and more obvious. Cole took him to many specialists over the years, while she had him going regularly to physical, speech and occupational therapy -- but beyond guesses, nobody had a clear idea for a diagnosis.
I met The Littlest Buddy when he was 3 years old -- adorable, painfully quiet, sweet-hearted, so tiny for his age. I fell in love with this boy just as quickly as I fell for his mother, and we became a family officially in 2008. All of his hard work in therapy continued, but the list of delays grew, and they became more obvious as he got older: low muscle tone, gross and fine motor issues, severely delayed speech, self-injurious behaviors, sleep issues. Finally, one of his doctors ordered up a FISH test (designed to locate specific sequences in DNA), and the results told us that The Littlest Buddy had a deletion in chromosome 17 -- the cause of a rare disorder known as Smith-Magenis Syndrome (SMS).
My wife was at work when the doctor called and gave her the diagnosis. The doctor apologized and said she wasn't actually sure how to pronounce the syndrome's name. Millions of questions flooded in, but the doctor said that she had never heard of the disease. She read Cole the clinical description of the syndrome that she had on hand. (Story continues below the slide show of Marshall's photos of LB.)
None of The Littlest Buddy's doctors had ever heard of SMS. We found a geneticist for him, but she had never worked with anyone with SMS before either (at least she had familiarized herself with case studies, and had good knowledge of the syndrome). It was beyond frustrating to know so little about SMS. We quickly began our own research, and compiled as many case studies as we could find. We put all the information into a book that we carried with us to appointments so that his doctors would have something to look at to explain SMS.
During this research we found a small community of parents at a site called PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome). We quickly noticed that Dr. Ann Smith, the very geneticist who had had a hand in discovering the chromosomal deletion (and has dedicated her life to researching SMS), was a part of this community. She regularly makes herself available to parents for support and answers. An incredible opportunity.
It has been estimated that Smith-Magenis Syndrome affects 1 out of 25,000 children. It is also believed that SMS is under-diagnosed. The more awareness of SMS increases, the more the number of people who can be identified will grow.
Cole and I made it a goal to start to raise awareness about the syndrome. We made the decision to use my blog, Pacing the Panic Room, where I had been documenting the building of my family, to help educate my readership about SMS. We had no idea who was reading, whom it might influence. Behavioral aides, special educators... the more people who knew about SMS, the more understanding there might be for LB.
I had been using Instagram, and really enjoyed the idea that people could essentially micro-blog their lives through photos and short captions, and so I thought it might be interesting for people to actually see what life with SMS looks like. I created the hashtag #lifewithsms, and started to document some of the characteristics of SMS that we see every day. There is a strange comfort in knowing that more people are learning about it; we imagine possibilities like some curious grad student looking to specialize who might become so intrigued that they decide to focus their heart and their studies on Smith-Magenis Syndrome. The more case studies we have, the more information parents can use if their child is diagnosed. Parents want to know what their child's future might look like. Right now, with SMS, it's not very clear.