Williams Syndrome: Our Family’s Journey

May 30, 2013

From the beginning, Robyn was a challenge. He was not the best sleeper, by far, and when he cried it was this high-pitched wail that would break your heart. It seemed like he hardly ever slept. At his two week old check-up, I was told that he had a heart murmur, and we were sent that very day to a cardiologist. He was diagnosed with moderate to severe peripheral pulmonary artery stenosis and so began regular appointments every few weeks for EKGs and echo-cardiograms.

At one point, surgical intervention was discussed, but the doctor wanted to give it a little more time. Amazingly, it was discovered at the next appointment that there was some improvement, and there was even more improvement at the following appointment and even more after that! It seemed that surgery would not be necessary, although regular monitoring of his heart would always be required. I felt like the luckiest mom in the world. Little did I know what else life had in store for my family.

My memory of the time between my son’s diagnosis of a heart murmur and his diagnosis of Williams syndrome at three years old seems like a jumble of so many different things. In my heart I guess I knew something was not quite right, but I think I was afraid to accept that something could be wrong. Then it came time for his annual check-up at the cardiologist. His regular doctor had left the practice and we were to meet a new doctor. There we were in the examining room and the doctor walks in with my son’s file and says, “I see here that your son has Williams syndrome.”

It felt like cold water had been splashed in my face. It turned out that before she left the practice, the other doctor had written her suspicions in the file and this doctor assumed it was a definite diagnosis. He wanted to send us to a geneticist, but I begged him for a way to find out sooner instead of waiting for an appointment. He sent us to get a FISH test (fluorescence in situ hybridization) for WS.

Two weeks later, we found out that my son did, indeed, have Williams syndrome, a rare disorder caused by a spontaneous deletion of only about two dozen genes on chromosome seven, including the gene that codes for the protein elastin, which allows tissues in the body to grow and stretch. I sat in the chair in front of the doctor with my son on my lap and just wept. A million thoughts went racing around in my head. What would this mean? What did the future hold for my son? Where do I start? What do I do?

The first thing the doctor did was to write down for me information about the Williams Syndrome Association (WSA). I took my son home and immediately went on the computer and looked up their website. There I found so many of the answers I desperately needed as well as a new understanding of all we had been through up until that point. I suddenly did not feel so alone. I had hope for my son’s future and valuable guidance on all I could do to help him reach his full potential.

Through them, I met other parents and we began to connect on Facebook and share our experiences. One of my dearest friends started a Facebook support group for parents and caregivers of those with WS and asked me to help administrate it along with three other wonderful moms, also very close friends. The group grew quickly and we asked the WSA for their support, and they said they were happy to help us in any way they could and they have been true to their word. Thanks to their support, we have been able to help each other on our journey with WS.

Over the past few years I have come to truly appreciate the Williams Syndrome Association. The WSA provides valuable information that I have shared with my son’s doctors, teachers and therapists. They have worked tirelessly to create awareness in our communities and have supported valuable research which can help improve the quality of life for individuals with WS. They collaborate with specialists around the country and throughout the world to bring the very latest information to families: information on health issues, behavior issues, education, estate planning, transitioning to adulthood and much more.

This is an organization that I believe in with all my heart. They have been there for me and my family, not just as a valuable resource about WS, but as friends who were there for me when I suffered the devastating loss of my husband, Jay, this past July. The love and support I have received from the WSA has meant more to me than words can express. I know that as I continue on this journey with my son, they will walk beside us and for that I am so very grateful.

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