Sunday, February 11, 2007

This is Sam. He was diagnosed with a rare genetic disorder called Williams Syndrome (WS). Our journey started nearly ten years ago. When Sam was first born, I noticed that he seemed different than my other three children. Not only was he much smaller but he also had a much different look about him. His eyes were very puffy, they actually looked like they were swollen. When he was three days old he had two lumps on his bottom gum, and two days later two teeth came through. I had never seen anything like it before. The dentist told me that it was his baby teeth. After about two months they both fell out. He got his permanent teeth to replace them at age 5.
Sam was a pretty quite baby, slept most of the time, I had to wake him up a lot just to get him to eat. When he was around three months old things took a dramatic turn. He started crying all the time, day and night, We were at the emergency room and Dr.'s office more than we were home during that time. The Dr.'s told us it was colic but I knew that wasn't it. I had a child that did have colic. His cries were different than Sam's. His first Dr. (the one that delivered him) gave him some medicine that he was extremely allergic to and when I told his Dr. the reaction he had he told me "Well if it helps him keep giving it to him" direct quote. Needless to say, I found another Dr. After many visits to that one for answers to what was wrong with Sam, That Dr. told me that I was a hypochondriac mother who was making up all this stuff. So, I found yet another Dr. Saw this one once and he also told me that I was making up Sam's problems. Finally went to the Dr. Sam sees now He did the best he could do for Sam for nearly 4 years until finally he just told me, I have done all I know how to do, I honestly don't know what's wrong. So he sent us to a geneticist in Lexington. She examined Sam and after about ten minutes, she tells me that she is almost positive that he has WS. I was in total shock. I had never heard of WS before. I cried all the way home. When I got home I got on the Internet and started researching WS and cried all the harder because of all the problems that a child with WS may develop.
We have since learned that he has supra-valvular aortic stenosis, (SVAS), narrowing of his aortic valve, possible coronary narrowing, scoliosis, pronounced Kyphosis, among other issues. So far it feels like I am on a never ending roller coaster ride, but then I look into those beautiful blue eyes and he gives me that bright smile and it makes it all worthwhile.

1 comment:

Lisa R said...

I love it I can not wait to see more :)

Lisa, Tatum's Mom