And Now

November 21, 2006

Turtle and RabbitTurtle and Rabbit   Harley is in the 3rd grade. She is no longer that little baby we tried to put weight on. She is now 4 ft 1 in and over 100 lbs. Still the spitting image of her father and I think she allways will be however she has the features of cdls but because she is so big it really doesn’t show. She attends school at boces in Goshen and is doing really well. I just got her report card today in the mail and she got a few achievements completed including some in math. She works hard at her speech, we were at the family gathering in October and someone asked me how I got her to talk (most of the kids are non verbal for those who are not fimilar with the syndrome), I saw how she was with hypotherapy(riding and working with horses) talking to and about the horses and got her a cat.

        She talks all the time to and about the cats (now 2) and she gave them appropriate names (turtle&rabbit). I don’t know why she started with turtle but rabbit just followed along with her idea. I’m not sure how to put pictures in yet so I’m sorry if Rabbit and Turtle show up twice. They are the reason or part of the reason why Harley started to talk because she had a topic that only she knew and she will talk to them to anyone. She also talks to them all the time.  Harley really has no medical problems (thank God) but I have to make an appointment with her gastro. as she has been spitting alot. Not spitting up but just spitting. I’m not sure weither it is a bad taste in her mouth (stomach acid) or just spitting because she can. Harley has a distructive behaviors with things that most of the time do not belong to her. She found the scissors the other day and proceeded to cut up a pull out window screen, I don’t think she realized that we will be needing the screen again when the weather gets nice again(it has been about 45 degrees during the day lately). It does figure as Thanksgiving is in 2 days and winter is just around the corner. More at a later date.                      Love and Hugs

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In The Begining

November 20, 2006

Harley was diagnosed at 6 months with Cornelia De Lange syndrome. We didn’t know that there was anything wrong until her pediatrician sent us to a geneticist when Harley was that age. The doctor did not give us a name on what she thought was wrong with Harley but when we learned what it was called I went to the library and did research on the syndrome. What I found petrified me as they were saying and also the doctor said that there was no chance for her. In the medical books there was only about 3 sentences about CDLS as we know it and there was no survival rate. That is when we went online knowing there had to be hope somewhere. That is when we found Amanda’s Room, and also the foundation.

            What a godsend the foundation is/was. They gave us hope and a lot of information and told us not to rely on what the medical books say as they really had no current information on the syndrome. With the foundation ( cdlsusa.org ) we found a whole family filled with doctors and families that understood what we were going through. After loosing our house in NJ and moved to NY I found through her now pediatrician, (I would not trade him for the world) Dr Pupo, (that is not what Harley calls him but I think you can figure it out) found us a world of doctors in Westchester Medical Center that although they didnt know that much about CDLS were willing to learn with us about  the syndrome and how to treat all the little things (ok some are big) that go along with it.

                     So when Harley was born on October 18th 1997 we were in for a big suprise from this little 5lb 1oz, 17 3/4 inch little girl. Perfect in every way and I would not trade her in for the world.