Saturday, May 14, 2011
Williams Syndrome Awareness Day 7: Putting the Pieces Together
Today marks the close of Williams Syndrome Awareness Week. It's not, however, the end of efforts to raise awareness about Williams syndrome (WS) and the challenges and joys associated with the condition.
In case you are just joining this series, I will briefly summarize some of the characteristics of people affected by WS. WS is a rare genetic condition caused by a microdeletion of 20-some genes on chromosome 7. It is sporadic (random, spontaneous, not inherited) and is observed in approximately 1-10,000 births. Individuals with WS often have cardiovascular, kidney and digestive problems. Hypercalcemia and hypotonia are common as are developmental delays, sensory integration difficulties and intellectual disabilities. These disabilities are coupled with some remarkable skills and abilities. People with WS have highly social, endearing personalities. They master verbal skills. Most have a strong affinity for music and many have outstanding musical abilities including "perfect pitch."
So why raise awareness? The reasons are many fold. WS is relatively rare and few people know about it. I never heard about it before Bean.
The more that we all know, including doctors, the more likely that affected individuals will be diagnosed early and receive appropriate treatments to help them reach their fullest potential. Early intervention is critical in helping to overcome many of the challenges families and individuals face. Greater knowledge could mean more resources and opportunities of all kinds for people with WS.
More awareness means greater understanding and tolerance. We are all so quick to judge others and maybe more knowledge will help us to be more accepting of others.
I don't know what the future holds for Bean. He may live with me and husband for the rest of our lives. He may not. He may go to college. He may not. He may work. He may not. He may marry and have children one day. He may not. In the end, it doesn't matter. We love him with all we've got and we will use the knowledge we have to provide him with all the resources he needs to live the fullest life possible - the perfect life for him.
Thank you for following this series. I hope you enjoyed learning a little about Williams syndrome and my family. If you are interested in learning more about WS, visit the Williams Syndrome Association. Among many other things, I will continue to write about the ways WS impacts our family, and especially Bean. I hope you will continue on this journey with us.
Williams Syndrome Awareness Week may be ending but we are just getting started. Next Saturday at 10:00, our crew will be attending the Pittsburgh Walk for Williams in North Park. We would love for you to join us - let me know if you are interested! If you are unable to make it and you feel so inclined, you can make a contribution to the Williams Syndrome Association - an amazing resource on WS - in honor of my sweet Bean here. All money raised supports individuals and families affected by WS.