September 2007

I pull up to my house to find my husband sitting on our front steps. He was waiting for me to personally deliver the results of a special genetic test for our daughter.  A test that will determine whether or not she is missing any important genetic material critical to her development.  As I get out of the car he starts to walk towards me and immediately I knew all was not right. “She has a disorder called Smith Magenis Syndrome or SMS.”  “What?” I say to him in barely a whisper.  He goes on to say that it is a microdeletion on Chromosome 17. He said the neurologist didn’t know much about it so he did an Internet search and explained that she was not going to be a typical child – the future became dark and unknown. I felt like I had gotten the wind knocked out of me. I began to sob. The kind of steady crying that doesn’t allow you to breathe. In between sobs, I said to him, “What is it? What is Smith Magenis Syndrome?”

Fast forward….

November 2015

Eight years later, I know very few things as well as I know Smith Magenis Syndrome.   I have spent countless hours learning about the disorder, talking to other families, and seeing first hand how the syndrome unfolded in my daughter.  I even co-founded the www.smsresearchfoundation.org (SMSRF) with the goal to make life better for those affected by this rare disorder.   Despite all my efforts to educate myself about SMS, the area that I struggle with most is sharing the difficult aspects of SMS with my family and friends. Back in 2007 when my husband told me the news, I said to him, “Please don’t tell anyone. I don’t want anyone to know.” He knew that would be impossible but he didn’t argue with me that day…he knew I was not ready to face our new reality.

It is not easy to reveal the dark side of SMS, the parts that are so difficult that the mere thought of them makes my heart hurt. Eight years ago I was not capable but today I realize how valuable it is to share your struggles. I now allow people to ask me what SMS is and I am not afraid to tell them. It is difficult to show people your vulnerable side and potentially expose yourself to pity and judgment. However, I now know (and it takes time) how valuable it is in order to facilitate the growth and healing process.

November 17th is SMS awareness day. The Smith Magenis Research Foundation has a campaign that will promote SMS families to share their personal struggles and educate their family, friends, and colleagues about life with this syndrome. Families will wear a shirt with the phrase #askmewhatitis and the SMSRF hopes that families affected by SMS will open themselves up to answer this one question.

I will start…(my perspective on SMS)

SMS is devastating, debilitating, and at times depressing.   It is a chronic disorder. My daughter is cognitively impaired. She is globally delayed in every aspect of her life and she is completely dependent on others for her survival. She hurts herself frequently and shows impairment in her ability to keep herself safe. She demands constant supervision and constant attention – she will never live an independent life. Her sleep is disrupted and she will awake multiple times throughout the night, which again warrants increased supervision. SMS never ends and it affects the entire family dynamic. Despite this, my daughter is sweet, funny, and unconditionally loving. Her smile can light up a room and her empathy for others is exceptional. She is curious, determined, and stubborn. She is more than her SMS and my hope is that one day I can help that part of her flourish so that she can enjoy life just a little bit more.

Thanks for asking☺