Genetics and Her Little Heart

Yesterday we met with the genetics counselor. He didn't tell us anything we didn't already know, like Rachel has Down syndrome, but he did tell us that the features of Down's she does have are very subtle. He also said that she was very cute. But we already knew that too! The doctors are going to do a blood test on her to determine the exact type of Down syndrome she has but that won't really change anything as far as the early intervention goes. We are going to try and give her the best head start we can as far as education, speech therapy and physical therapy.

She also had an echo cardiogram done of her heart since children with Down usually have heart problems as well. Thank God they didn't find anything major. They said all 4 chambers of her heart are working great. The only thing that they did find was a small hole between the bottom two chambers. It's called a ventricular septal defect (VSD) and is the most common defect in all the general population. For now they will just watch her to see if it causes her any problems but they don't think it will be an issue. So now we just focus on her gaining weight, getting the abdominal surgery, and getting her home.

I was able to hold Rachel again yesterday but this time it was skin to skin. The little peanut gave a fuss at first but as soon as she settled, got warm and heard my heart beat she was out for the count! I felt like such a first time mom. I was so afraid of hurting her that I didn't even want to move. Hopefully I will get over that and become more comfortable handling her before we bring her home. Stephen, on the other hand, is already a pro. He is hands-on with everything like taking her temp, changing her diaper and putting on clothes. I am lucky to have him as my husband!