Sydney Emma was born on December 23, 2005. It was a typical day for a family who was just about to have another baby filled with expectation and exhilaration. Sydney was our third child and we had been through this whole process twice before but this time it was going to be a little girl. It was a perfectly normal pregnancy with a planned c-section delivery. She was a beautiful child and at first everything appeared fine. It was not until a few hours after she was born, when I was finally resting in my room and relishing in the fact that I had just given birth to my first daughter, when a physician whom I had never met came into my room and informed me that Sydney would need to be taken to the NICU (neonatal ICU) for observation but that there was no cause for concern. Sydney was having trouble coordinating her suck and swallow reflex which resulted in her oxygen saturation levels dropping too low and my instincts told me that there was plenty of reason to be concerned.
Have you ever had one of those moments when you knew something terrible was about to happen but you really weren’t sure exactly what that was? Well, mine was when my husband found us later in the NICU. I saw his reaction to the situation and I had never been more sure in my life that things were about to change. What I did not know at the time was exactly how profound that change was going to be.
It took 21 months of sleepless nights and internet surfing every symptom that Sydney exhibited, numerous conversations with anyone who would listen, frequent visits to the pediatrician with no answers regarding her painfully slow global development, numerous trips to specialists, and a litany of birth-to-three therapists taking over my home, until finally a very aggressive neurologist ran a special genetic test that gave us our diagnosis.
The date was September 5, 2007 (I remember it like it was yesterday). I had been anxiously awaiting for 6 weeks for the result of Sydney’s micro-array. (A micro-array is a test to determine if there are any problems with her genetic material). I had called the neurologist everyday for 6 weeks and finally at 11:00am that Wednesday morning the results were in. I called my husband because I was too afraid to hear what the doctor had to say. Although I knew in my heart it was not going to be good, there was a part of me that thought whatever it was could be fixed. My husband told me to go home and he would call me once he spoke to the doctor. At that moment time stood still for me. The power of denial never ceases to amaze me and so I took my time getting home. I went for a manicure, stopped in a store and browsed and then very slowly drove home. My husband called a few times and asked where I was. I asked if he had heard from the doctor and he said no but again I was to go home and wait for his call. I wanted to believe he had no information but when I pulled into my driveway there was no doubt because he was sitting there on our front steps. Only a massive tragedy would force my husband to leave work unplanned in the middle of the day. At that moment my fears were confirmed and my instincts on December 23, 2005 had been accurate. Life as we knew it had changed forever.
I heard somewhere that every 10 years your life completely changes. I never believe such statements but in our case it is true. On September 5, 1995 my husband and I were engaged. I walked into our apartment that day at the age of 24 to chinese food and roses. He proposed to me that night and it was the most exciting and beautiful night of my life. It was a night of new beginnings and a night that was going to change my life forever. Then 10 years later I arrived home and find a whole different life waiting for me but one I later realize is just as exciting and beautiful and offers another new beginning.
Sydney Emma was diagnosed that day with Smith-Magenis syndrome (SMS). It is a rare microdeletion syndrome (a small but critical piece of genetic material is missing). So rare that after 21 months of obsessive internet surfing I had never even heard of SMS and believe me I read about more syndromes than I could ever possibly count. Even the neurologist who gave my husband the diagnosis was able to offer him nothing more than telling him to google it because she had never heard of it herself.
It is frightening to learn that your child is afflicted with something that has profound repercussions on her global development and future but it is downright horrifying to learn that no one in your circle of support had ever heard of this or had any insight into what to do next or even what to expect. When you are faced with the absolute unknown you will do just about anything to get focused and I spent that first week petrified but frantically looking for a focus. I spoke with numerous families from around the country who had children with SMS thanks to the PRISMS organization. I heard things I was not emotionally ready to hear and it became painfully clear to me that I was going to have to find an inner strength that I was not at all confident I had.
Several days after we received our diagnosis there was a knock on our door. Chris answered it and it was a man delivering a package. Chris opened the package and got down on one knee and handed me the most beautiful ring I had ever seen. It had five stones, one for each member of our family. He told me that this ring marks the beginning of a new life for us and whenever I felt fearful or could not face another day, I should glance down at that ring and consider it my band of strength. He then showed me the best part of the ring which was the inscription. It read “strength for sydney” and from that moment on I knew we would not only survive this tragedy but we somehow would turn it into something exciting and beautiful.
And almost 3 years later, the SMS Research Foundation was born.
The dust has settled and the shock has dissipated. Acceptance has entered our lives as well as a strong desire and powerful need to begin to find answers to many unanswered questions about SMS.
This is just the beginning…