February 2, 2000, Hello Everyone! It's past due for an update on Katie. Since Katie was diagnosed with Cornelia de Lange Syndrome back in September 98 we've been busy taking her to doctors and getting everything checked out related to CdLS. Thankfully Katie has come through all the test with flying colors. No reflux that we know of and no damage from reflux. Katie has been to so many doctors since her diagnosis that whenever she sees a white coat she panics. Here are just some of the test Katie had done: An Upper GI with a small bowel follow through, Endoscopy, X-Rays for her hips which did show some abnormalities but nothing to worry about at this time. We will just have to have her checked every few years. Katie also had her eyes examined which showed stigmatism in both eyes. No need for glasses this time though which is good. The most recent test Katie had was back in November 1999 in which she had an EEG to test for seizures. Thankfully that test came back normal as well. What we have left to do now is take her in for follow up to her Geneticist and get her set up for dental appointments as well. So far we have been extremely lucky. Katie really has no major health problems that we know of. It looks like Katie's biggest struggles at this time are in Speech and Language and her developmental delays. Katie also has very weak hands and is being worked with for that. Katie is in a new school now which is just incredible. She has been mainstreamed into a regular Kindergarten class with which she shares an aide with another little girl. Katie right now is working on writing skills, learning to recognize letters, patterns, counting and recognizing numbers, using scissors properly just to name a few. Katie is receiving Speech Therapy twice a week and Occupational Therapy every other week. Both have helped tremendously and she is showing a lot of improvement in both areas. Katie has a huge list of words she can now say and is even making sentences. She still has a problem with what is called Echolatia. She will often just repeat what you say to her but is getting better about responding to questions. She will also come up and ask you a simple question or make a simple statement. We are still encouraged to learn and use sign language as it's a nice back up for Katie when she has trouble expressing herself orally. We are very lucky to have a friend who happens to be a Sign Language Interpreter. She has offered to help us with Sign Language. Katie can now trace her name and letters that are high lighted and can also recognize her name. This is such a wonderful feeling. One of her new goals will be to write her name without the highlighting. Katie is now 5 years old and will be 6 this June. She is an incredible young lady and inspires us always with her persistence to be more independent. She is also the most loving, trusting person I know. She knows and expresses unconditional love always. We learn a lot from her. Katie now weights over 40 lbs and is in the 95% for a typical child her age. This is very unusual for CdLS kids but there are some CdLS kids who are the same way or near. We had the great pleasure this past June 1999 of going to the International CdLS Conference in Dallas Texas. We met so many wonderful families and children and adults with CdLS. It was one of the most wonderful experience in our lives. We met lots of families from our CdLS Online Support Group who are now a part of our hearts and family as well as the other families we met. At the conference Darrel and I went through training to be Awareness Coordinators for Southern California and what a great honor it is to be able to help the CdLS Foundation by bringing awareness to such a rare syndrome. We hope it will help families out there who don't have diagnosis's yet find one and to educate doctors, neighbors, friends, family and everyone on this rare syndrome. You can help to bring awareness by sharing this site with a friend or another cdls site. You just never know who's life it might help or touch. Thanks for visiting Katie's Corner. It means the world to us that you stopped by. Please come again and remember share this site so others may learn about this rare syndrome. We owe all our thanks to God for our many blessings. Here are some of those blessings. Katie's new school, teachers who work for the children and want to see them succeed in all they do and be independent. Katie's Speech Therapist, Her Occupational Therapist, Her aide, our pediatrician, the specialist who saw Katie and all our family and friends who support us everyday and offer their love and prayers on a constant basis. We are also thankful to the CdLS Foundation who we can call at any time for support and answers, The CdLS Online Support Group that was started by some pretty incredible women who have children with CdLS. They are Christy and Sandi and now Vicki and Kim who also help keep the group running. These are very strong women who have huge hearts. Many thanks also to Vicki for designing Katie's Corner and updating it for me. We just have so many blessings I could go on and on. Most of all thank you for visiting and sharing your thoughts on Katie's Guestbook. That means so much and shows us that we are bring awareness for kids and adults with cdls. God Bless you all! Lisa (Katie's Mom) |
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