This is our first picture of Rose. Cheryl had an amniocentesis at UCONN Medical Center in Farmington. She was recommended for the test because of her age, 39 at the time. Before the test, we talked to the genetic counselor, Alicia Craffey. We had told her that we were going to have the baby regardless of what the test results were. We had been through many years of infertility. After many years of trying we had managed to have two beautiful kids, Erin, just turned 10 and Katie about to turn 6. Alicia gave us some excellent advise, better then we knew at the time and something we would only come to appreciate after Rose was born. She said, even if we definitely want the baby no matter what, you still what to know the baby’s health conditions so that, if necessary, the best possible medical attention can be available.

Cheryl got the call from the Alicia one morning as she was getting Erin and Katie ready for the school bus. I was already at work. Our baby had Down Syndrome, Trisomy 21, an extra chromosome where you don’t want to have one. Cheryl didn’t say anything to Erin and Kate, just got them on the bus and then called me at work. We talked briefly. We were both in shock. I remember going home at lunch. We just sat on the couch and hugged each other and cried.

That night, we tried to tell Erin and Katie that the baby had some problems, that she had Down Syndrome. We told them but we really didn’t know what it meant ourselves. We tried to explain about mental retardation and some of the physical appearance characteristics but, in general, we left them pretty confused. We really didn’t have a good idea of what the baby would be like. And we really didn’t know how to explain what it feels like, as parents, to have all your expectations for your unborn child turned on end.

Over the next few days, we picked up a few books, for us and for the kids. We read and started to get a better understanding. We were able to give the kids a little better explanation. Pictures in the books helped a lot. They could pick up the subtle differences but in general, kids looked like kids and babies looked like babies and I think they found that reassuring.

Cheryl is an RN so she was already aware of some of the medical problems that babies with Down Syndrome can have. I’m an Engineer with limited medical knowledge so the list of possible birth defects was a bit overwhelming and unexpected.

We tried to tell our parents and siblings as soon as we could. Everyone was very supportive.

We went in to talk to Alicia concerning the test results. We were still hoping and asked a lot of questions. Have these tests ever been wrong? Well, not in over a thousand positive results that they had in UCONN’s med history. Could the baby have a rare and less severe form of Down Syndrome called Mosaicism? (where the extra chromosome is present in only some, not all of the baby’s cells.) Maybe, but not likely. They had tested over 30 cells and they all had the extra chromosome. She gave us some more information about babies with Down Syndrome. Much of this we had read in the last few days. The hardest piece of news, though, was that these babies are a very high-risk pregnancy. One in four don’t survive, either miscarriages or stillbirths. Could happen at anytime. That was hard to take.

Cheryl and I had been planning a long weekend getaway to San Francisco in October. Alicia thought it would be a good idea to have an ultrasound before we went. I’m not sure if it was to check the health of our baby or to make sure we were aware of any other health problems so we could make a more informed decision.

We tried to tell our parents and siblings as soon as we could. Everyone was very supportive.

We went in to talk to Alicia concerning the test results. She gave us some more information about babies with Down Syndrome. Much of this we had read in the last few days. The hardest piece of news, though, was that these babies are a very high risk pregnancy. One in four don’t survive, either miscarriages or still births. That was hard to take.