My name is Katie Schilly, and I am the volunteer 18q- Syndrome Coordinator for the Chromosome 18 Registry and Research Society. I have a wonderful husband named Dan, and three beautiful children.

Dan and I met in 1993 playing soccer at a local indoor arena. We hit it off instantly as friends, and then started dating quickly into the soccer season. In September of 1995, we got married. Our first child, Blake Alan Schilly, arrived in November of 1996. He was a wonderful baby and so perfect in our eyes that we decided when he was nine months old, we should have another baby.

Remy Marie Schilly arrived in April of 1998, when Blake was only seventeen months old. She, too, was a beautiful baby. Remy was much smaller at birth than her brother had been. That had not surprised us since during my pregnancy it was discovered that I had a two-vessel umbilical cord, rather than the normal three-vessel cord. We had seen a neo-natologist during my pregnancy, and they felt that the cord was Remy's only abnormality. We were told our chances of having a child with Down Syndrome or any other chromosomal abnormality was less than 1%.

When Remy was born, we found that she had a cleft palate. Her feet were said to be Rocker bottom feet. Our family physician was a very cautious doctor, and he ordered numerous tests to be done on Remy. Genetic testing was one of them. He said that he wasn't looking for anything, but since there had been three anomalies associated with Remy (the feet, cleft and two vessel cord), that warrants genetic test.

While at the hospital, Remy had her feet x-rayed, a bladder and kidney sonogram, and blood drawn. Her feet were flat and the sonograms came out fine. Remy had no other complications at birth and had actually scored high on her Apgar scores. She needed no extra care, except for feeding with a special Haberman bottle for her cleft.

Remy had to undergo many more test after we were discharged from the hospital. It turned out that she had two-small holes in her heart. The cardiologist wasn't too concerned because he felt the holes would heal on their own. Her other tests came out fine, though we had yet to hear from the geneticist.

When Remy was six days old, I took her and my son Blake to a playgroup, and then to Remy's doctors appointment for a jaundice check. I remember feeling pretty good about myself that I could continue with my son's normal schedule, despite having a newborn. Both kids did great at the playgroup, but then things started to fall apart at the doctor's office. Both kids were hungry and tired, and we had a little bit of a wait. When the doctor walked into the room, I was sitting on the floor with two fussy kids. Blake was eating a fruit bar and trying to help me sooth Remy by patting her on her back, leaving a crumbly mess all over her as well. Our family physician walked into this chaos and had news that was going to add to it. This is when I was informed that Remy had a partial deletion of her 18th chromosome. He didn't know much about it, including whether she was a q- or a p-. During my pregnancy, we had researched two vessel umbilical chords, and I remember reading about Trisomy 18. I had instantly started crying and telling the doctor that Remy couldn't die, and that she looked to perfect to have this disorder. The doctor finally cleared up my confusion about Remy not having Trisomy 18, but that she was in fact missing part of her 18th chromosome. Dan and I had an appointment already scheduled with the geneticist for the following day, but the doctor was trying to get us in to see her earlier so we could learn more about this syndrome.

I had to leave the office with my children and track down my husband who was in a work related meeting. I called my mom, who was staying at my house, bawling, trying to tell her that if Dan called to tell him to come home. She was waiting for me when I walked in. She couldn't understand my message, but could tell something was obviously wrong. We reached Dan and told him the diagnosis (after calling my doctor back and asking him what it was Remy had). He came home and our world of chromosome 18 began.

Dan and I were fortunate in that my father started researching chromosome 18 and found the Chromosome 18 Registry & Research Society. He contacted Gloria and got information on the various syndromes and guessed that Remy's deletion was on her long arm of the 18th chromosome, or the q arm. We went to the geneticist the next day and found out that the deletion was indeed on the long arm. We were given Xerox copies about 18q- from old medical journals. The descriptions were "worst case" scenarios as we later found out, and the pictures were of seriously affected adults. Remy did not look anything like these pictures. We then left the geneticist office, not knowing much more than what we knew before coming in.

Fast forward two plus years, and we have a Remy who is doing much more than what we were originally led to believe she would. We are better educated about her syndrome, medical issues, and personal issues, thanks to the Chromosome 18 Registry. We have moved twice since her birth and had to go through the not-so-fun task of finding all new specialists and educating them about our daughter's syndrome. I must say that Dan and I have had to learn a lot of new things due to Remy's syndrome: medical terminology, sign language, different assistive technology, how to be an advocate, how to keep a medical notebook, and much, much more.

Remy is an active two-year old who is doing much of what is typical for her age. Her biggest delays are in her speech and physical development. Socially and cognitively, she is keeping up with her peers. We hope that this is always the case, though we know it could change. Remy has started to walk unassisted at twenty-six months and is starting to talk a little. Her greatest motivator is her big brother, Blake.

Dan and I are grateful for finding the Registry. We would be lost without it, as most of our doctors have never heard of Remy's syndrome. We made it to two conferences and plan to attend every one possible. We learn new things at each conference and meet new friends who will stay forever in our hearts.

As for Remy and what her future may hold, we cannot know anything for sure. What we do know is that she has got the spirit and determination to overcome everything possible and be the best daughter we could have ever imagined.