Katie's first smile... I waited 6 months for this beautiful sight.
So, yes it's rare, but what is it, you ask? Williams syndrome is a deletion of about 25 genes (give or take) on the 7th chromosome. The main gene, elastin, is missing in about 95% of people with WS. Elastin is a connective tissue that is just that, elastic. It provides stretch to organs that makes up just about every system in your body particularly vessels in the cardiovascular system. It gives the spring in your skin when you pinch it and allows the blood vessels to open up when the pressure is great from your heart's beat. People with Williams syndrome still make this elastin (without it you wouldn't have made a body at all) using their intact chromosome, but the missing gene on their duplicate makes their body less able to adapt to things like changes in blood pressure. Therefore, most people with WS have cardiovascular anomalies. The most common being a narrow aorta, just above the semilunar valve (where it exits from the heart).
The cardiovascular symptoms are usually what directs you to a geneticist. Many people with WS are diagnosed early now a days because their cardiologist suspects something due to narrow vessels, like ours did. Many, however, find out much later. It takes a trained person to really understand this syndrome. That is why spreading knowledge about WS is so important to our family and many others like us.
There are many other signs of Williams syndrome, not only the cardiovascular symptoms. When Katie's first 4D ultrasound picture was made, I immediately noticed facial features that didn't sit right with my gut. Her eyes were puffy, her forehead had dips along the sides that didn't match anyone in my family. When she was born, I couldn't get over the way she looked. She was beautiful, of course. I loved her, yes. But she wasn't what I expected. I felt guilt over this for some time. I still feel a little guilty as I type this. How could a mother think something was fishy about their baby's appearance? You're just supposed to love them no matter what. Well, it was my first clue to her diagnosis. Later that summer, we attended the Williams syndrome convention and it was like a family reunion. Everyone with Williams syndrome looks alike. They have beautiful blue eyes with a star burst pattern. They have sweet little button noses and most have spirals of curly hair that spill over their heads like springs as bouncy as their personality.
Williams syndrome has so much more to it. These are only two of the many WS traits. They are also musical despite being delayed. They are social despite being vulnerable and over trusting. They have a smile that will light any one's world despite the worries they face daily. Williams syndrome is indeed a roller coaster syndrome. Most days I just have a funny little girl who is easy going, happy and curious. Other days I'm brought to my knees in total fear of her future. Time will only tell of her fate but one thing I know, she is one of my greatest blessings.
Over time I have been learning more and more about my daughters disorder and decided to apply my knowledge in another blog. I dedicate that blog to explaining the difficult... difficult to read and understand but sometimes difficult to stomach, too. As a parent, the realities of the disorder can often feel overwhelming. It's my wish that proper education about WS can help relieve that fear. Join me at www.understandingwilliamssyndrome.blogspot.com to learn more.