Linda, my sister, is a woman in her 40s. For more than 10 years I have suspected she has Williams Syndrome.
Nine months ago a FISH test finally confirmed that Linda has Williams Syndrome.
Since then I’ve certainly discussed this with Linda on many occasions. I’ve even tried to explain about a genetic deletion using chocolate bars and nibbling a bit out of the middle (think she just didn’t understand why I was eating her chocolate!).
Today we have an appointment with the Medical Geneticist to discuss the test results and their implications.
I decided to take Linda a cup of tea in bed to ease the process of getting up – today is a big day! As Linda and I are planning the day I sit beside her and we chat about the meeting…
“So tell me, what does Williams Syndrome mean?” I ask her?
“Williams Syndrome means I’m into music.” she says. “And anything else?”
“I’m very friendly.” “And anything else?”
“I like playing musical instruments”.
And I guess that’s about it. That’s what Williams Syndrome means.
I guess you can overcomplicate just about anything if you like. I know that there’s a lot more to Williams Syndrome but Linda has a pretty good summary there.
Williams Syndrome in the words of a WS Adult.
“Williams Syndrome means I’m into music, I’m very friendly and I like playing musical instruments.”
I’m really keen that this visit to the Medical Geneticist will fill me in on the wider details, what to expect, particularly for an adult.