My name is Liz Conner and I am the Texas/Mexico Regional Coordinator for the Chromosome 18 Registry & Research Society. My husband Mark and I are the parents of three children Kara 13, Corey 11 and Kristi 7. Our daughter Kristi was delivered by emergency C-Section October 21, 1992, eight weeks before her due date after close monitoring revealed there was no longer any amniotic fluid for her to survive. Kristi weighed 3lbs 4oz at birth and was 18" long. Chromosomal testing was done after the doctor noticed that Kristi's fingers seemed longer than a "normal" baby and one ear was slightly lower than the other. A week later the test results came back and she was diagnosed with 18q- syndrome. It was hard enough dealing with her prematurity, but to drop this other bomb on us took us by complete surprise. We were in a state of shock. 18q- syndrome: what does that mean? What can we do? The only thing the doctor could tell us was that the syndrome was variable, it was so hard for us to believe, here we were in Houston, Texas renowned for its medical center and we could not get any answers to our many questions.

Kristi stayed in the neonatal intensive care unit for six weeks and during that time was examined by numerous pediatric specialists. All of her tests came back normal with the exception of hearing, this test showed a moderate hearing loss. The only really noticeable problem she had at that time was rocker bottom feet, with splints and daily physical therapy it was corrected. She progressed wonderfully, six weeks later weighing 4½lbs we finally were able to bring her home.

Kristi developed eczema when she was around four months old. We keep it under control with Cortizone 10 after her bath each night. At the age of six months she developed asthma, which meant we had to give her breathing treatments several times a day. At that same time she began to have seizures, I suspected that they were caused by the breathing treatments, due to the fact that they occurred following the treatments. Our pediatrician sent us to a neurologist at Texas Children's Hospital in Houston and we were told that seizures went along with the syndrome. The dosage for her breathing treatments was reduced in order to prevent a seizure just in case it was related. Amazingly at the age of nine months the asthma disappeared and, along with it, the seizures.

Kristi was accepted into the State of Texas Early Childhood Intervention Program when she was nine months old. Through this program she received physical and occupational therapy once a week at the home of her day care provider since I am a full time working mother. At the age of three we enrolled Kristi in elementary school where she attends a full day special education class.

She continues to receive physical and occupational therapy along with speech therapy (she is non verbal). Due to her low muscle tone Kristi did not walk until she was four, through the help of the school physical therapist we ordered a special chair (Kid Kart) to transport her to and from school, she still uses this chair since she is small and there is no way to secure her to the seat on the school bus.

After testing in San Antonio for growth hormone deficiency Kristi began growth hormone therapy July 3, 1998. She is given an injection daily, has gained approximately twenty pounds and has gone from a size 3T to a 6X. Our biggest challenge is her hearing aid, since her ear canals are so small we could not get any to fit in her ears, she wears a bone conduction hearing aid that looks like a hair band. It either falls off or she pulls it off. Kristi had her eyes examined earlier this year and also wears glasses, and does quite well keeping the glasses on, she has quite a strong prescription and realizes that she can see much better with them. Kristi also has autistic characteristics. She stays in her own little world most of the time. She does not play with any of her toys and does not join in with other children who are playing. She enjoys watching Disney and Barney videos and will sit in front of the television for hours.

We have attended the Chromosome 18 Registry & Research Society Annual Conference with Kristi the past two years. The seminars are very informative and meeting the other families with children that have the same syndrome is very exciting.

The past seven years have been quite a challenge. Kristi has opened a door to a whole new world for us. Through this door we have met some truly wonderful people. We feel so very fortunate that the Chromosome 18 Registry and Research Society exists. It has become a very big part of our lives.