You see this syndrome is so rare that even some doctors have never heard of it and the more that is out there on this syndrome the more people will know and maybe some other family wont have to wait over 4 years for answers.

Katie was born on June 29, 1994 . She weighed in at 7lbs 10oz. That is right 7lbs 10 oz. Now you may have read some already about CdLS and most babies are born around 5 lbs and under but not always.

O.K. Now to move on. Once Katie was home she had problems holding her formula down but seemed to be gaining weight O.K. In her first few months of life there were two ER trips one even by ambulance because of her throwing up and aspirating her formula. Although one of the ER doctors thought reflux might be involved the doctors at the hospital felt that no test where necessary in checking for that. However the intern we saw gave us some advice and tips on helping with it. It seemed to help drastically. We were told to add rice cereal to her food at all times and to keep her elevated for a while after feedings as well as putting a pillow under her mattress and elevating her while she slept. After all this we decided to switch to a new doctor near where we lived after I had some question about a concern from a previous doctor that Katie's head size was way to small. I wanted a second opinion. After taking Katie to a new pediatrician which by the way he is her pediatrician today and key to helping us get the answers we now have. At any rate this doctor did feel Katie's head size was cause for concern and also checked out a dimple on her back which was of concern to me. I was also concerned at this appointment about arching her back which she did often. Well, from there the doctor hooked us up with a neurologist over a few concerns he had about Katie. He had noticed that Katie constantly scissors her legs and was concerned about Cerebral Palsy. The neurologist continued to follow Katie till Jan 97 and although she ruled out Cerebral Palsy she felt that there was something there just not quite right. She was concerned about Katie's dark features like her eyebrows and eyelashes and felt that she might have a syndrome where she resembled other people with the related syndrome. We were still in denial though at this stage. The doctor had done an MRI and a Chromosome Test and all had come back normal. We felt that she would grow out of whatever it was. "She was just behind the curve " we'd say. "She'll catch up" we'd tell ourselves. During the time of the testing with the MRI we had a BER test run because we felt the way she walked which looked like she was off balance and the lack of speech might have something to do with her ears. Well, were partly right. She did have a moderate hearing loss in one ear and a mild in the other and there was significant fluid in her middle ear. After having tubes put in we felt that she would magically talk right away like our son did and her coordination would improve. Well, she did say a little more and her balance got a little better but in our hearts of hearts we knew something else was there. We just weren't ready to admit it yet.

In March of 97 we moved to Virginia were we had Katie tested for Special Ed and I sat and listened as specialist told me the global delays Katie had. My heart was breaking. At 3 years of age she test at a 14 month old to 18 month old level. She would need Special Ed. The Social Worker was real positive as well as the other Specialist that tested her. They told me that I would be amazed how well the school system was there. They were right. Katie had a wonderful Special Ed Teacher named Terri and many wonderful assistants working with her. The change in Katie was incredible. She was starting to use some basic sign language and starting to talk a little and by the end of the school year she had reached a lot of goals and her gross and fine motors were starting to catch up from 14 to 18 month old level to 30-36 month old level. That is quite a jump let me tell you. Her cognitive, social and self help remained pretty low still, but our Katie is a fighter. She tries real hard to do what she can do and we are so proud of her.

Well, back to getting the diagnosis. In June 98 we moved back to California and Katie went back to her old pediatrician. We told him that we were frustrated and wanted answers. Her Pediatrician had always been concerned about Katie's dark features and excess body hair on her back and other areas of her body. He sent us to an Endocrinologist and put in a referral for Katie to be seen by a Geneticist as well.

After going into the Endocrinologist he didn't think the excess body hair was hormonal but part of a syndrome maybe and he went to get a book on a rare syndrome he had read about. He thought maybe it could be it. Cornelia de Lange Syndrome. He spent a lot of time with us checking Katie's Hands, feet, head size, just to name a few. Her hands had some structural differences. Long tapered fingers, incurved pinkies on both hands and her thumbs were located differently then a typically developing child. Her second and third toes were also connected on both feet which is a sign of the syndrome. The early history of reflux as well was a sign. Also, her long penciled eyebrows that met in the middle and the long lashes are signs. This doctor felt strongly that we have Katie seen by a Geneticist right away and on Sept 24, she was.

A month ago we received a diagnosis on Katie. The diagnosis doesn't change who Katie is but knowing what we are dealing with aides in knowing how to help her better. It has opened up many windows for us. We have a new found family of friends from the Cornelia de Lange Syndrome Support Group and the Cornelia de Lange Syndrome Foundation.

Sometimes it is so hard to think that there is anything wrong with our children and we often want to hide behind denial. Denial will get you no where and the truth will set you free. We have a very strong faith in God and he has been with us every step of the way. Perhaps we didn't find out until now because God felt we could handle it better now. As a family we have always been strong and close and this has brought us even closer. Katie is a special gift from God and we feel special that God chose us to be her parents.

We have two other blessing from God too our son Michael(7) and our youngest daughter Caroline(2). We just sat Michael down day before yesterday and really talked to him about what has been going on with Katie. He had some real concerns for a 7 year old. Please remember that siblings have lots of fears and questions and be honest with them and tell them everything you can appropriate to their age. Let them know you will be there if they have questions.

Thank you for visiting Katie's Web page and reading our story. Please come by and visit again.

Please check out all the other web sites related to Cornelia de Lange Syndrome. This Syndrome ranges from mild to severe or "Mild" to "Classical" Cornelia de Lange Syndrome. Katie has a mild version of the syndrome so it is helpful to read about all these wonderful children and adults with this rare syndrome to learn more about it. The children and adults with CdLS are incredible as you will read and real fighters. They will surely touch your hearts and inspire you.

God Bless you all.

Lisa and family

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