Hello. My name is Eva and I'm Simon's mother. Simon will be eight soon, and he has chromosome 18p-. Simon was born here in Holland to a Dutch father and an American mother. We did not anticipate any problem with our son's birth. Simon was born very late, three weeks overdue by cesarean section. He had the typical "failure to thrive" problem, and after two months a genetic test determined he had 18p-. Of course, we had no idea what on earth this meant. The weird part was that his doctors didn't either, so they just winged it with all kinds of gloom and doom about our future. Fortunately, some of it just didn't make sense, and since they had no evidence to show us (articles, statistics, etc.), we decided to look further on our own. We changed medical people immediately. We got a geneticist and a pediatric endocrinologist. We contacted The Chromosome Registry & Research Society. These three factors radically changed our perception of our family life, our future and the health and potential of our child.

For me, personally, the call to Jannine at the Registry was the big leap forward. She wasn't freaked out, not even when Simon was only ten months old and I told her I would have to give him a daily injection of growth hormone. Some people hate spiders and some hate rats, but I draw the line at needles. This couldn't be possible. Now this was really too much. I called Jannine ranting and raving, and she said, "Oh, our daughter, Elizabeth, has been getting daily shots for a few years now." So calm. "What??! Isn't it tramatic?" I rave. "Didn't you go totally bezerk when you heard this?" "Well," said Janine, "I hardly remember. All I know is now we do it as routine, and it's like brushing teeth. Sometimes it's a hassle and sometimes it goes smoothly. But it has helped Elizabeth so much we don't even think about it in any negative way at all." OH. Hmmm. This was just what Simon's doctor told me, only it was hard for me to believe him. To hear our endocrinologist say it would help Simon so much that I would practically look forward to the injection was much different than hearing it from a mother who actually does it. Now my attitude is like Jannine's, only I'm an even more rabid advocate for growth hormone injections, if that's possible. Simon REALLY improved and continues to do so. This isn't only about his "height." This is about his mental agility, alertness, good humor, strength and well being. For this reason alone (besides a million other things), I am grateful to the Chromosome 18 Registry & Research Society. By speaking to Jannine, I overcame my fears, learned some facts, and was able to really help my son. As our doctor said, if I approached Simon all shaky and nervous I was going to make him all shaky and nervous. So, I had better get it together. I thank the Registry for getting me through this. I had been considering postponing beginning the injections (forever if possible). I'm so glad I didn't. I think it improved Simon's life (together with taking hydrocortizol) more than anything else we've ever done.

Furthermore, over the years the enormous bonus of the Registry has been meeting other parents and their "18" kids at the conferences. To see that Simon's collegues are just the most adorable, smart, capable little kids is so wonderful. I always think Simon and I need a boot in the pants when we see the accomplishments of the other kids and their families. We get ideas and concrete information for everything from speech therapy to spoiled rotten behavior therapy. We are all kinds of people in this group, and the good news is together we can spread accurate information as well as educate each other and the public at large about our kids and their syndromes.

Simon, by the way, is a terrific, smart, funny, stubborn kid. I think though, that his stubbornness is from his mother's genes and not a result of his deletion. His most marked characteristic is his poor speech. We work on this (in Dutch and English) and though he's troublesome for most people to understand, he just keeps right on talking until the person understands him. Stubbornness may do him some good after all. But it is his self- confidence that I so admire. I'd like to think he gets some of his sunny disposition from the positive attitudes that surround him. For this bright outlook, I will always be deeply indebted to the Chromosome 18 Registry & Research Society.