Clare's Birth and Diagnosis

Clare Therese was born on March 31, 2005 at 8:52 pm. She was nine days post-due, so I was induced via Pitocin. Labor was hard and delivery was fast - 3 pushes and she was out! Clare weighed 6 lbs, 8 oz and measured 20 1/4". We were ecstatic to welcome Clare Therese to our family, which included big brother, Jamie, age 26 months.

Clare was a great baby from the start. She took to nursing immediately and was a good sleeper. After a very long pregnancy, we were so glad she was here! When she was a day old, though, our pediatrician heard a heart murmur. We were still in the hospital, so the pediatrician called in the pediatric cardiologist to take a look at Clare. Our cardiologist spent a long time examining Clare and listening to her heart. We knew something was wrong. The cardiologist explained that she thought Clare had a hole in her heart - a very common birth defect. She wanted to do an echocardiogram to check it out. Shawn and I were both extremely upset over this news - of course, we were! No one wants to hear their newborn baby may have a problem. We were blessed that my mom was with us at that time, so she was a great source of support for us. The echo was done that night in the hospital. However, the cardiologist found something more than a hole in the heart. Clare's pulmonary arteries were narrowed (pulmonary stenosis). After going over the long list of concerns for that, the cardiologist wanted to see us in two weeks to do another echo. And we were discharged from the hospital - sent home with lots of questions, anxiety, and uncertainty over Clare's future.

Those first two weeks were rough! We were constantly checking Clare to be sure she was okay. Since this was our second time at parenthood, we assumed that we would be less nervous, more mellow about everything. Wrong! When you're told your baby has a heart defect, every little cry makes you nervous. At the echo when Clare was two weeks old, the cardiologist found more narrowing in Clare's vessels. She wanted to do another echo in two weeks to keep an eye on this. At this time, we still thought we were just dealing with heart defects. When we saw our pediatrician for Clare's well-baby visit, he said they wanted us to see a geneticist to determine if Clare had some "condition." We agreed because anything that helped Clare was for the best.

Clare had her third echo at 4 weeks old, and that was when the cardiologist mentioned Williams Syndrome. Clare's echo showed that she had supravalvar aortic stenosis as well and narrowed aortic branches. The cardiologist explained that one symptom of Williams is the deletion of the elastin gene, which is used in constructing vessels and valves. Given that all of Clare's vessels and valves in her heart were too small, she thought Williams might be the key. We had never heard of Williams Syndrome. We probed the cardiologist for more answers and were told the myriad of other conditions that can be part of Williams Syndrome. Needless to say, we were stunned. We never considered the thought that there could be more wrong with her than her heart. We anxiously awaited our appointment with the geneticist. We saw him on May 16 and, at that time, Clare was clinically diagnosed with Williams Syndrome. Since that meeting, Clare has undergone a battery of tests and exams for various conditions caused by WS. In addition to the heart defects, she has congenital hypothyroidism and hypercalcemia. Her renal arteries are also being examined for possible renal stenosis due to her slightly elevated blood pressure. We have quickly learned that there can be many health issues associated with WS. She has a sedated echocardiogram every month to monitor her heart. We also have visits with the endocrinologist and pediatrician.

So now she has been diagnosed with WS (although we are still awaiting the results of the FISH test - the blood test that will confirm if the genes are missing). On a positive note, Clare herself is doing great. At 2 1/2 months old, she is a wonderful nurser, pretty good night sleeper, and our precious baby girl. Jamie loves having a baby sister and, although there are times he wants me to put her down, for the most part, he loves to hug and kiss Clare and is a very big helper - always ready to burp her or throw her dirty diaper away! We are blessed to have two such incredible children.