Sunday, June 19, 2011

Could this really be it?

Last week, one of the blogs I follow had a post about Williams Syndrome.  I had never heard of it, so began reading.  I was shocked to discover that Ethan has most of the characteristics of this syndrome.  I also learned that 20/20 was doing a special on Williams Syndrome, so I set my DVR to record it.  The thing that first struck me was the distinct facial features: the small upturned nose with the low bridge, the full lips with the top one being longer than most, and the small, widely spaced teeth.  I googled images of WS and saw lots of kids who look like Ethan!  The more I read, the more intrigued I became.  Ethan has been diagnosed with apraxia of speech, reflux, global developmental delays, low muscle tone, sensory "issues", and has trouble with fine and gross motor skills.  He is also bothered by various noises and goes through periods of clapping his hands to his ears.  He is also extremely social, and doesn't know a stranger.  He went from being unable to communicate verbally to talking to everyone that he encounters.  He talks to people on elevators, in the check out lines, in waiting rooms, etc...  He loves to give hugs and always flashes his endearing smile with huge dimples! 
Children with Williams Syndrome often have serious heart conditions, so I am going to be calling the doctor tomorrow to see about getting the FISH test done to see if Ethan has it.  When he was evaluated at Riley Children's Hospital's REACH Clinic, it was suggested that genetic testing be done to see if he had some kind of rare syndrome so that we would be aware of any underlying health issues, should he test positive.  Back then, we were in the process of switching health insurance companies and asked if the testing could wait a few months.  Now that we have insurance that should cover expenses, I feel it necessary to go forth with the testing.  The diagnosis is not what matters to us, as we love our child unconditionally.  What matters to us, is finding what health risks there are so that we can best care for our child.  I love my little guy more than words can express, and I am willing to do anything to find ways to help him live a long, happy, and healthy life!

2 comments:

  1. Hopefully you'll be able to figure out what Ethan does or doesn't have, syndrome wise, and be able to assess his needs based on that. He's a happy kid and you are such a great mom always researching and looking for answers.

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  2. Hi! I have a sweet little 21-month old boy with WS. Please let me know if you want to chat or have any questions! I you do get a dx, I'll be happy to put you in contact with an amazing group of parents. You have a beautiful family and I look forward to getting to know you :)

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