Diagnosis of Williams Syndrome

In the summer of 2007 Abby's pediatrician told us that we should get her genetically tested.  She said that Abby's congenital heart disease could mean she had a genetic syndrome.  So we were referred to Rileys in Indy and we set up an appointment. 

We arrived and checked in for her appointment.  We were standing in the hallway waiting to be shown into the exam room and one of the geneticists walked past us and looked closely at Abby.  We got into the room and one of the residents came in to talk to us.  He said the doctor who had just seen Abby in the hallway was 99 percent sure that Abby had Williams Syndrome.  I had done some searching on the Internet, and the pediatrician had given us 2 likely syndromes - Williams and Turner.  I was relieved when we found out it was Williams because Turner syndrome was the worse of the two options. The resident set up the paperwork and we took Abby downstairs to the clinic and they took her blood to do the FISH test for Williams. 

2 weeks later I was sitting at TGI Friday's having lunch with Abby when I got the call.  The FISH test had come back positive - Abby had Williams Syndrome.  While we weren't sure what all that meant, at least we had a diagnosis and we would be able to find out more about what to expect for her future.  And it explained everything - the colic for 6 months, the constipation problems, the congenital heart disease.  So we scheduled an appointment to go back down to the genetics clinic and have a conference about what to expect. 

Although the diagnosis was hard to hear and understand at first, I was just glad to know that there WAS a reason for everything Abby had been going through and that at least we would be able to move forward from there.  It was a little harder because we knew no other WS families or WS individuals, so the support system was just family at that point. 

First Birthday!

First Birthday cake!

2nd Birthday Party

First day of Pre-School 2010