Suddenly, We Hoped for a Diagnosis of Down Syndrome

Life can throw you curveballs. Things can change in an instant and take your life in a direction that you never expected.

My second pregnancy was riddled with endless nausea. Life was hectic, and there wasn’t time to stop – I worked full time (I managed to drive to work while vomiting in a plastic bag), and had an energetic one-year old.

My belly was much larger this time around also. At my 34th week OB visit, the doc mentioned I was measuring as if I were two weeks overdue, and did an ultrasound.

Ultrasounds were bittersweet for me. They offered a much anticipated glimpse of the baby, but also prompted me to ask if there were any signs of Down Syndrome – my biggest fear. I was 40  years old, and the chances were higher for me. My first pregnancy at 38 was a breeze – no nausea, and an easy delivery of a perfect baby. I was sure I could duplicate the experience. Things like Down Syndrome happened to other people.

The doctor confirmed it was a boy, then the happy chit chat that occurs between the staff and myself quickly turned silent. Was there a tension in the air? The doc quietly informed me there were “irregularities”.

I stood at the front desk as he directed a nurse to schedule me for a more intensive ultrasound with a specialist as soon as possible. More tense silence by the clerical staff. The awkwardness hung heavy like a storm cloud as I waited. It was unmistakable. Nobody knew what to say to me. I was handed an appointment card and an address with directions. I went into the bathroom, locked myself in a stall, ran my hands over my gargantuan belly, and cried my eyes out. It was a deep, gut wrenching cry. The kind that only happens during pinnacle low points in your life – like when a parent dies or when your heart breaks for the first time.

I drove straight to my husband’s work and had him meet me in the car, so that his staff wouldn’t see my pink and puffy eyes. He held my hand as I told him the news. Then, he wiped his eyes and named the baby Alexander, after Alexander the Great – Because our child would have to fight for his life like a warrior.

My husband hovered nervously as the Level 2 Ultrasound gave detailed images of the baby, which had a full head of hair. Unfortunately, it also revealed the baby’s brain was deformed. The cerebellum was splayed. This part of the brain controls muscle movement. If the baby survived the delivery, it would be unable to walk, talk, move, or breath. This was probably due to an unusual syndrome that “was not compatible with life.” Oh, just to add another bizarre twist, he could possibly be a dwarf.

Suddenly, a diagnosis of Down Syndrome became something we hoped for. A syndrome with tons of research, data, and support.

They loaded us up with bereavement support group literature and sent us home – devastated and in shock.

I sat in the cafeteria at work with my friends the following week. I shoveled eggs and toast into my mouth with tears in my eyes. I needed to eat to make the baby as strong as possible to face whatever surgery or procedures he would have to endure IF he were lucky enough to survive.

One week later my water broke, and I found myself at the University Hospital (which had a level four NICU equipped to deal with any complex care that might be needed). The delivery room was packed with ten doctors and two nurses. It was a teaching hospital, and ours was a rare birth for the interns and residents to observe. Between labor pains, a kind faced nurse carefully counseled us about what to expect. The baby will be unable to breath, so he probably won’t cry when he is delivered. And depending on the baby’s condition, he may be whisked away to receive medical attention or to the OR.

My husband squeezed my hand and stroked my hair. I pushed and took comfort in finding that the second delivery really is much easier than the first. The baby arrived quickly. There was a silence in the room that lasted a lifetime… then my baby cried – the most beautiful sound I have ever heard because it meant the baby was breathing. Some of the doctors dropped their unemotional faces and gasped loudly. Now when doctors actually gasp, it is unnerving. Then one declared, “He’s breathing!” I felt so much joy. A female voice exclaimed, “He’s beautiful… and he’s got red hair!” The whole room broke into cheers. My beautiful baby boy was held up for me to see. And he did indeed have a full head of bright red hair.

They brought him to a nearby table to do the Apgar Test and swaddle him. I held him briefly then off he went for more tests. I have never been so happy and thankful in my life. No matter what, my baby was alive, breathing, and moving. And he was absolutely beautiful. I was sure I was in the presence of a miracle.

Later, the doctors told us his brain, and all systems were well developed, but he did suffer from esophageal atresia (the stomach and esophagus were not attached), which could be corrected surgically. The inability for the baby to drink the amniotic fluid is what caused my belly to swell unusually during the pregnancy.

They suspected the baby might have Down Syndrome, although he did not possess the traditional facial features (almond shaped eyes, flat bridge of the nose, or protruding tongue).

The only physical characteristic he had was a slight gap in the space between his big toe and the rest of the toes. This possibility no longer scared me as it did just two weeks earlier.

A week later, the tests did reveal Down Syndrome. We were so thankful that our beautiful baby would survive and lead a happy, healthy life. We were actually thankful for the diagnosis of Down Syndrome.

Written by, Sharlene James-Whited

My name is Sharlene James-Whited, I am married and have two boys (15 and 13 years old). The youngest has Down Syndrome and is probably on the autism spectrum. I am an independent filmmaker and am learning to advocate for the rights and inclusion of people with disabilities.

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