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Our little Sydney Ellen was born on February 27, 2002. Her dad and I were very excited that she had finally arrived, as was her big brother Ethan, who was 4 at the time. Sydney was a small baby – just six pounds. She was healthy at birth and appeared to us as a typical beautiful, little baby girl.
At just three months, Sydney began having seizures and was admitted into the hospital for several days in which she was poked, prodded and examined. There were many concerns over her inability to focus or “follow” with her eyes, her “genetic” appearance, her inattentiveness, and her low muscle tone.
As her parents, we were floored. How did we not notice these things? We have since realized that no one wants to search for signs that their child may be unhealthy or even just “different”. Almost always, it takes a major event to push one into action.
Thankfully, Sydney’s seizures stopped after a few days with medication and did not return. Several weeks after she was released from the hospital, the source for Sydney’s issues was revealed. Genetic testing confirmed that she was missing a segment of the outermost band of her first chromosome (chromosome1), a condition known as 1p36 Deletion Syndrome or Monosomy 1p36. This is a fairly common syndrome in that it occurs in one out of every 5,000 -10,000 births. This genetic disorder is typically characterized by distinct facial features, seizures, hypotonia, limited speech ability, moderate to severe intellectual disability and hearing and vision impairment.
It took us some time to deal with the fact that this wasn’t an illness that would just go away. To be honest, I think we still, and always will, deal with that to some extent. The main challenges for Sydney have always been her hypotonia and her severe intellectual impairment. We began work right away with Early Intervention. Sydney’s father, Scott, left his job so that we could have a parent at home to coordinate the necessary therapies and appointments. He is still home today, as caring for Sydney is a full time job. It is a strain on us financially, having just the one income however, it is necessary given our situation.
Scott and I often remember back to our first meeting with Early Intervention in which we set our initial goals for Sydney. “Rolling over within six months,” “Sitting up within the year,” — of course we could get these done by then. We had no idea just how much work Sydney had to do to even come close to achieving those goals. A twenty minute physical therapy session was exhausting for her. She would end in tears and fall asleep almost immediately after, not budging for the next two hours. Needless to say, the goals took much longer than we thought and we soon realized that we needed to be a little more realistic!
Slowly but surely, our girl began to grow stronger. She was rolling over after a year and sitting up on her own before she was two. At three, she began hippotherapy and loved it. She still does this today and it is truly amazing how much her trunk strength and balance has improved from riding horses.
Sydney also began using a walker at three. At first we kept it stationary and she would stand in the walker for a period of time everyday. I remember this being very difficult for her and her brother would often sing, dance and act silly just to keep her standing and smiling. Ethan has always been there for Sydney in that regard. He loves to play with her and make her laugh. There have been many questions from him along the way about why Sydney is different and when she will do this or that. He has always taken the answers in stride and been a fantastic friend to her. He has taught her “Ring Around the Rosey”, played endless games of ball with her and pushed her on the swing until she’d had enough.
At five years old, Sydney took her first steps on her own and by six, she was able to walk longer distances with limited assistance. The playground became the highlight of her school day. Over the past couple years she has learned how to navigate the ladders and bridges just like her school friends, albeit a little slower. Sydney is still non-verbal but the pride she feels from these small accomplishments on the playground is evident just by looking at the smile on her face. She loves other children and has always been a very social little girl.
Sydney’s work on building her muscle tone is on-going and it is often difficult, given her limited cognitive and physical ability. She lacks an understanding of many outdoor games or activities. She is also challenged by some of the movements and dexterity needed in organized play. However, Sydney loves being outside. This is one of the reasons why we know she will benefit from a new bike. She has enjoyed using the bike in physical therapy sessions and also likes watching her brother on his bike. To have one to herself would be so exciting for her and a great way to get the exercise she needs. We appreciate any help that can be given in achieve this dream for our little Sydney Ellen.
