Our son, Brent, was born in 1984, full term but just under six pounds. He made the usual milestones at the end of the normal range, looked mostly normal, was healthy but growing slowly. When he wasn't talking at two years of age, the pediatrician recommended an evaluation at Easter Seals. The results confirmed my unease that something wasn't quite right with my baby. He started intensive therapy: special preschool, ST, OT, PT. But still we had no diagnosis, despite seeing specialists. When he was three, chromosome testing showed an abnormality with chromosome 18, but it wasn't specific. A friend who has a child with Miller's syndrome told me about NORD, who in turn told me about The Chromosome 18 Registry & Research Society. I contacted Jannine Cody who told me about a researcher in Philadelphia working on the 18th chromosome through the Human Genome Project. I contacted her, had Brent's blood sample sent and was given his diagnosis of 18q-, duplicate 4q (very small deletion, luckily). With this information, he had further testing of heart and kidneys to rule out any threatening abnormalities. Thankfully, he had none.

Since then, Brent has done well, all in all. He is in the EMH IQ range and is in middle school in an inclusion program where he spends about half his day in the resource room with the special ed teacher, aide and other needy kids doing basics like math and reading. He spends the other periods in science, social studies, gym, and electives. The regular classes are hard for him, so his goals and assignments are modified so that he can gather what information he can learn and be successful. This works well for him.

I have found the Registry helpful in other ways, also. The newsletters profiles different health problems affecting our children.

So, while we have a child who has short stature (who will not replace Michael Jordan anytime soon), slight speech articulation problems, a touch of ADD, mild mental handicaps, and slightly low muscle tone and bone problems, we wouldn't trade him for the world. He's a happy boy who can do a lot of things, including bike riding, mowing the grass, jet skiing, Nintendo, and even mountain climbing! We are fortunate to have this great Registry of people to help us in so many ways. Thank you all!