Genetic Counseling

Yesterday, we packed up Colin and headed out to the Children's Hospital of Philadelphia to the Genetics Center. We were referred there by Colin's pediatrician to get some more information and to discuss our future in having children. I had almost cancelled the appointment because I was feeling that it was going to repeat of what we had done at Jersey Shore with the Infant Toddler Assessment Program. However, we decided that it never hurts to have as much information as possible, especially coming from one of the best hospitals in the country.

We got to the hospital early with ease, registered, and were in the room by 11am. The geneticist came in and very thoroughly evaluated Colin. Her initial evaluation seemed to be focused on his physical features associated with down syndrome. However, she was listing different things she was checking and most of the features were ones that Colin did not have. For example, she said that children with Down Syndrome sometimes have a different sized space between their ring finger and pinky finger, one joint instead of 2 in their pinky which then contributes to a curved pinky. She used a small magnifying lens to look at his fingerprints, his toes, she took many different measurements including his length, head circumference, and chest width. She said that he did not have the flat palmar crease that he was initially thought to have and that the features that he did have were minimal and really just consisted of the almond shaped eyes.

Chris and I felt like such proud parents because throughout the whole evaluation, Colin was one happy little boy (but did you really expect anything less?). Colin was smiling at the doctor and "talking" to her and she commented more than once about how attentive he was at what she was doing. At the end of her evaluation, she lifted Colin up by his arms into a seated position and he picked his head right up like he is supposed to. She also picked him up and he tightened his body (a typical infant reaction) in the manner he was supposed to do.

After the evaluation, she left the room with the genetic counselor and then came back to sit down and talk about everything with us.

The first area the doctor discussed was the science behind the Down Syndrome. Colin's form of Trisomy 21 (another name for Down Syndrome which refers to the 3 chromosomes as opposed to 2) is called nondisjunction. The easiest way to explain it is that at the 21st chromosome (we have 46), he has 3 chromosomes (contain the genetic material) instead of 2. His form is somewhat of a random occurance in the sense that there is not any marker in Chris or I that contribute to Colin having Down Syndrome. If he had had Translocation Trisomy 21 (where the 3rd chromosome attaches to another one, like the 14th, instead of at the 21st), Chris and I would have been tested because we would then be carriers.

Then, she talked about Colin and how impressed she was (he was definitely a show-off!). She asked if we had been told that Colin has low muscle tone (associated with children with Down Syndrome) and we told her we had been told that. She felt that if he had had that before, he certainly doesn't have it now because she felt his strength was great! She also told us that she does not forsee him having much (if any) delays in his motor development (crawling, sitting, walking, etc.) because of how on track he is now and how he doesn't have to learn the things he is already doing. She discussed the possibilities of his future with his cognitive development, but it's a lot of unknown so there really wasn't anything to say besides the things that "could" happen. We are very optimistic though!

Finally, she talked about statistics and probability. We joke that we should play the lottery. For a woman at the age of 28, my chances of having a child with Down Syndrome were 1/1139. I think technically the bottom number would have been higher since I was actually 27...but we will leave it where it is. Even though it is a "random occurance", our chances of having another child with Down Syndrome become greater at 1/100.

The thing is, Chris and I want more children to complete our family and a 1/100 chance isn't going to stop us. However, there is a lot to think about...speaking for myself, I don't fear Down Syndrome anymore. We have a happy, healthy, beautiful baby boy and our life is blessed because of him. However, there are other factors involved which we will certainly discuss. Right now, we are going to enjoy Colin and take it one step at a time. As the saying goes "we will cross that bridge when we get there". We love Colin so much and our lives would not be the same without him.