Edwards Syndrome...something you don't see everyday

Today, I saw a baby with Trisomy 18, otherwise known as Edwards Syndrome. As the name implies, it occurs when a baby has three copies of the 18th chromosome, instead of the usual 2. As with most chromosomal abnormalities, it's a particularly tragic disease. It usually causes a large number of problems, including serious kidney and heart defects, and multiple dysmorphic features such as rocker bottom feet, a short sternum, and micrognathia. The babies often die before 3 months of age and almost always die before 1 year old. Unfortunately, the baby that I saw to day is extremely sick and will most likely fall into the first category. He is probably the smallest baby currently in the NICU, and makes absolutely no respiratory effort. It's hard not to feel bad for the parents, who will probably be making a very difficult decision shortly.

Seeing conditions like this really help to learn the disease. It's one thing to read about a rare disease in a pathology book. But, it's entirely different to actually see someone with the disease in front of you. It associates a person with the disease, and makes you really want to go learn about it. In the future, I will be remembering a person, when I think of Edwards syndrome, instead of just trying to remember facts from a text book. The same is true of the many other childhood diseases I've dealt with in the last few weeks. Although peds is not my favorite rotation, I really do enjoy clinicals! It's easy to forget why you want to be a doctor in basic sciences, but clinicals brings it all back!