Appearance Isn't Everything

Delivery rooms tend to be noisy and joyful places. Mothers in the midst of childbirth have been known to scream, swear, and growl. Conversely, obstetricians and midwives maintain a calm and instructive tone. Nurses offer encouragement. IVs drip, monitors beep. The obstetrician, having accompanied the mother-to-be through her uncomfortable pregnancy and painful childbirth, finally delivers the prized baby with the customary, "It's a boy" or "It's a girl." The little one gives a lusty cry then the nurse or pediatrician quickly assesses the newborn, performs any necessary resuscitation, and then, when all is stable, places the baby on the scale and completes the delivery room chorus by announcing the weight: "7 pounds 6 ounces."

As a physician, there are few experiences that are as extraordinary as being present at the birth of a baby and serving as part of the noisy team. It is one of the most personal and intimate moments of a family's life and yet one that we as doctors are invited to attend. In sharp contrast to the joyful, noise of the usual delivery room, there are also few experiences as dreaded by physicians as a quiet delivery room. Mothers whose conditions are precarious may require emergency C-sections and general anesthesia which renders them mute and requires their family members to stay in the waiting room. The lungs of very premature babies may be too undeveloped to make a cry. Rarely, when the condition of a mother or baby is dire, nurses and doctors may used hushed tones. And occasionally, a baby may look "funny" to the delivery room staff, silencing their jubilant announcements and necessitating the opinion of a pediatrician.

I have attended many quiet delivery rooms and I always pause outside the door, offering a quick prayer. Most recently, I was called to see an infant whose physical appearance suggested a diagnosis of Trisomy 21 or Down syndrome. Baby Bobby had almond-shaped eyes, a single crease across each of his palms, and an enlarged tongue. The spaces between his toes were also enlarged and the tone of his muscles was low. A definitive diagnosis required an analysis of his chromosomes and would take days. I joined the parents with Bobby bundled in a blanket and began to point out to them the physical features that I recognized. I then recommended that we obtain the chromosome test as well as some other tests. Bobby's parents fought back tears as they listened. His father then looked at me and said, "But he has my eyes."

The power of chromosomes always gives me pause. Parents of newborns often point out to me that their baby has her mother's nose or his father's ears. We are so eager to make that physical connection that binds us to our children. Yet in patients with Down syndrome, a genetic condition that results from the presence of all or part of an extra 21st chromosome, they share more physical features with other children who have Down syndrome than with their family members. I don't know why this angers me so much. Obviously, chromosomal material determines our appearances, but I have always found it terribly unfair that children with genetic syndromes resemble each other more than their siblings.

In fact, prior to genetic testing, the diagnosis of genetic disorders was almost exclusively based on appearance. While in medical school, I was instructed on how to look up genetic syndromes in Smith's Book of Recognizable Patterns of Human Deformity, a tome which still sits in Neonatal Intensive Care Units for aiding in visual diagnosis. So many disease states a re invisible to the onlooker. An infant born with a liver disease or heart disease may require extensive surgery, a premature baby may spend months in a neonatal intensive care unit and have lifelong medical and developmental disabilities, but they don't stand out in the kindergarten class photograph.

Sally, another one of my patients with Trisomy 21, is a particularly eloquent teenager despite her learning disabilities. She asked me to speak to her middle school because so many of her classmates were worried that they might "catch" her Down syndrome. I was happy to oblige and she sat at the back of the auditorium during my talk. Afterward, I asked her how she felt about the students' questions. She replied, "I'm happy that they know there's a reason why I'm not so smart. Lots of other kids aren't smart but you can't tell from looking at them."

Sally's wisdom has stayed with me. When I am on rounds in the nurseries in the hospital, assessing newborns for any abnormalities, I often wonder how their lives will develop. Am I listening to the heart of a future cardiologist? Am I checking the hips of a future long distance runner? As they lie bundled in their bassinettes with perfect eyes and toes, I wonder will their futures be as flawless or will they someday have to wear their imperfections on the outside for everyone to see?