Answers for Hailey

So I never thought that I was the type of person to start a blog....but since there is so much going on in our lives, I figure it's the best way to keep people updated!
We recently took Hailey to her standard bi-yearly cardiology appointment to check on her heart murmur. The Fresno Children's Hospital had not sent Hailey's records over yet, so her new doctor re-did her testing—EKG, Ultra Sound, blood pressure, etc.. The specific type of heart murmur is a Supravalvar Aortic Stenosis (new to me). This type of heart murmur can be the result of a genetic heart problem which can be linked to a condition called Williams Syndrome which affects both mental and physical development. She said that Hailey has some of the facial characteristics that could match this syndrome and after asking me some questions, recommended genetic testing (which may have a 6 month wait). She also said that the severity of the symptoms can vary greatly.
I was by myself, had already been there 90 minutes, and this was the first I had ever heard of this syndrome! I left extremely disturbed and went straight home and googled WS. Within minutes I knew that the WS characteristics fits Hailey perfectly. The common symptoms include: an excessively outgoing personality, development and speech delays, low birth weight/gain, low muscle tone, puffy eyes, a long upper lip length, dental abnormalities (small widely spaced teeth), irregular sleep patterns, colicky in infancy, hypersensitive hearing, and the heart murmur. These fit Hailey to a T. People with WS can also have kidney problems or failure, major joint issues, diabetes, and a need for surgery due to the heart murmur.
From just a few weeks old I knew that Hailey was special, different from other kids her age. She always met her milestones, but later than the average. Nate and I were very aware and always asked her doctors if there was something more to her delays. They repeatedly assured me that she was normal. We switched doctors frequently seeking higher quality care and they all said the same thing, nothing was wrong she was just behind. I persistently asked about her puffy eyes and was told it was allergies. We asked her California Cardiologist if her heart murmur had anything to do with her developmental delays and even got her tested for autism. But again and again we were assured that she just behind.
Honestly, it has been a tough few days since we found all of this out. Initially, I cried more than I have in a long time. Nate was more numb at first, and it took a day or two until he broke down at the reality of the situation. I feel like I am still in shock, and probably will be until we actually get the official diagnosis and speak to the doctor. We haven't told many people yet, and honestly, it is really difficult and draining to even speak the words out loud. A pre-warning: we are still very emotional about it and this will take some time to emotionally process.
I called Hailey’s new pediatrician the following morning and in tears asked what I should do now expressing that we could not wait 6 months for an official diagnosis. She was angel and called the geneticist herself, is pushing to get Hailey in before the end of November, and is starting some testing to get the process going.
Because of Hailey's developmental delays, she recently was accepted into a program called Child Find where she gets to attend preschool with an entire team of therapists 4 mornings a week at no cost to us. She has been going for 2 weeks and it has been such a blessing! My own research shows that with WS, early intervention with physical and speech therapy can help...so we've already got the process started!
Prayers and support are especially needed at this time in our lives, as we know there is a long road ahead of us. Because we are still adjusting to the news and hoping that Hailey's case is very mild, we ask that you try not to pass along to us any information or pictures that you may find online or anywhere else regarding WS which may be discouraging and trigger additional emotional challenges. However, don't be afraid to talk to us about it...we are not in denial and it does help to know that people care and want to hear about it. We will keep you posted on this blog as to any new information that we find out.