What Is SMS?

I think this is best answered with a combination of scientific fact and perspective.  I present the perspective of a new mother faced with a rare syndrome and the process of acceptance.

Smith-Magenis Syndrome (SMS) is a non-familial chromosomal disorder characterized by a recognizable pattern of physical, behavioral, and developmental features.  It is the result of a small missing piece of genetic material in chromosome 17, known as a micro-deletion, and referred to as deletion 17p11.2.  Smith-Magenis Syndrome is quite rare, occurring in approximately 1 in 25,000 births.

It is believed that the above features result from the lack of a protein referred to as RAI-1 that is made or encoded by the missing piece of genetic material on chromosome 17.  Unfortunately, this protein is poorly understood and little research has been performed to date that characterizes its true function and role in brain development and cognition.

How SMS affects Sydney

After Sydney’s diagnosis I was on a mission to speak to anyone and everyone who had any information, advice, insight, or answers to this puzzling syndrome.  What I focused on most during those early days, weeks, and months was that my daughter was cognitively impaired.  She didn’t look impaired in the way I had always imagined cognitively impaired to look, in fact, at 22 months Sydney was alert, engaging, eager and motivated to learn.  She was happy, stubborn, strong, and mobile.  She could eat independently and was  more than aware of her surroundings.  She was undoubtedly suffering from a severe expressive speech delay but her receptive skills were almost age appropriate.

In my mind this was not the image I had of a cognitively impaired individual.

She had more than the normal tantrum that did include self injurious behaviors such as head banging, but simultaneous to those episodes she was also the most loving, empathetic and endearing child I had ever met.  Needless to say, I was very confused about what SMS was and how it was going to manifest itself in Sydney.

I submerged myself in anything and everything written about SMS.  I spent many a sleepless night reading story after story on listservs and chatrooms about families living with SMS.  I read stories that were horrific, frightening, and extremely depressing.  The never ending tantrums, the painfully slow global development, the cognitive deficits, the medical problems, and the undeniable and consistent sentiments that these individuals would never lead independent and normal lives.

Upon reading those stories your mind goes in to a protective mode, self preservation, and I would convince myself that could not and would not be Sydney.  I would do whatever it took to avoid these potential pitfalls of SMS such as prolonged self injurious tantrums, sleepless nights, and most importantly a low IQ.  For a while I even believed that it was likely Sydney had a mild case of SMS and that her deletion was too small to have caused such a problem. The hardest part about getting the diagnosis was understanding what it really meant and how to take a laundry list of symptoms from a text book and translate them into a real person.

About 2 weeks into the diagnosis I came across 2 wonderful women, Barbara Hass-Givler and Brenda Finucane, both of whom had almost 2 decades of experience working with SMS individuals at the Elwyn school in Elwyn Pennsylvania.  They were wonderful selfless women who spent one evening talking to me for more than two hours about SMS.  Their description and explanation was informative, alarming, calming, and supportive all in one.  If truth be told I didn’t hear half of what was said because all I wanted to know was whether or not her IQ would be in the normal range or  would she be cognitively impaired. The response to me was anything but simple.

They explained that they had met some SMS individuals with an IQ in the normal range but that Sydney’s IQ was irrelevant because it was her emotional rather than her cognitive abilities that would hold her back.  It is also her erratic and impulsive mood swings, her self injurious tantrums, and her overall social development that is of concern.  But the truth is I stopped listening after they said that there are individuals out there with an IQ in the normal range and at that time I believed that was all I needed to hear.  Of course it was a short lived sense of relief.

As the days weeks and months passed Sydney’s behaviors became more and more challenging.  Her tantrums increased along with her self injurious behaviors.  Stressful and demanding situations were her triggers.  Too many transitions would spark a meltdown and redirecting her was becoming more and more challenging.  But still I believed that this would pass with the right structure and behavior modification and that her emotional development would mature and, always remembering what those women had told me about her IQ, I allowed myself to continue to believe that maybe we had beat this dreaded syndrome.

About a year later I read an article about SMS that said it was unlikely that an individual with SMS would emotionally mature past the age of 18 months.  This article was written by the same 2 wonderful women who had spent 2 hours the year before diligently trying to help me understand SMS.  I had said before that I chose to only hear what I wanted and this was clear evidence of that fact.  They had told me this but I was in denial.  They made it very clear that the debilitating factor about SMS was the developmental asynchrony that occurs; the divide between emotional development and cognitive development.

This was a defining moment for me as it clearly illustrated the crux of the problem in children with SMS.  Sydney would likely be able to learn and communicate with others.  She would have interests and take pleasure in life.  She would be a social and happy individual.  The article stated that her receptive skills would likely be intact and that she would be able to carry on conversations with others and take part in activities like other typical children.  However, emotionally she would likely always remain at the developmental age of 2. Her coping mechanisms for stress would be the same as that of a toddler.  It would be these issues that would force her to be unable to live an independent life regardless of what an IQ test would indicate.  Her organizational skills would be compromised and she would always need structure and supervision to function in her day to day life.

This was a wake up call for me.  As ridiculous as this sounds it was at that moment it became abundantly clear to me that my daughter had Smith-Magenis Syndrome.

These tantrums and meltdowns were not going to magically disappear as she aged.  This style of coping with stress was part of her DNA (the missing RAI-1). So even though one day she could read and write and carry on a conversation with a peer, she would never be able to regulate her own emotions.  She would never be able to manipulate the real world in any organized way.  Her mind simply could not work that way and if forced to do it would likely result in an overload and would manifest itself as a toddler tantrum.  Transitions seamless to a typical child and adult would pose many challenges to Sydney and would always require the support of someone to lead her through them.  The possibility of independent living was not a reality.

It took me the better half of a year after this revelation to regain my equilibrium.  I had new goals now and new expectations for Sydney.  I once again grieved the loss of who I thought she might have been but then began to accept who she was going to be.  I made a vow that day to do whatever I could to foster her emotional development.  I began building the team of support that I knew we needed to make a difference in Sydney’s life.  Support to diminish some of the struggles she was going to face in her life.  I also realized that the piece to this puzzling syndrome that was missing was the RAI-1 protein on the short arm of chromosome 17.  Clearly not easy to replace and in order to assist my daughter in living a more stable, independent, and comfortable life more research regarding the missing gene and resultant protein was vital.

To learn more about SMS, visit the SMS Research Foundation.