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.

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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.

5 comments:

  1. What kinds of markers can be looked for at birth to get earlier diagnoses? Hopefully there can be some sort of screen that's done routinely, as it is for Down syndrome, and get these children services sooner! Great posts this week!

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  2. Thanks, Erin!

    Becca, that's another great question. Short of doing an ECHO at birth to look for supravalvular aortic stenosis, I don't know what they could do to screen at birth. Children that are diagnosed early are done so typically because they are found to have SVAS and that triggers genetic testing.

    The physical characteristics are very subtle at birth and become more prominent with time. The various digestive problems and delays also come with time.

    By 3-4 months of age, we were pretty sure that there was something worth testing for but it took until he was much older to convince his doctors to refer us to genetics. They felt that his issues were all reflux related and his first ECHO only showed pulmonic stenosis and "possible" aortic stenosis so they weren't overly concerned. We ultimately got the diagnosis at 17 months of age.

    Erin, do you have some thoughts on this?

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  3. This was very interesting. Thanks for making me understand better. All of the "he may or he may nots" remind me of my own son, who does not have Williams Syndrome.

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  4. Shan - glad this post made it more digestible! And I guess those may/may nots refer to just about any of our children, right?!?!

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