Before our diagnosis, we had never heard the word phocomelia—and suddenly it was all we could think about.

Textbook definitions describe phocomelia as a rare congenital condition characterized by the severe underdevelopment or absence of limbs, sometimes causing hands or feet to be attached directly to the trunk. While the medical language can sound overwhelming, it doesn’t begin to capture what it feels like to hear this diagnosis as an expecting parent.

Our Maternal Fetal Medicine doctor prepared us for what we might find when we inevitably turned to Google. Historically, phocomelia was more commonly seen in the 1950s due to a medication called thalidomide, which was prescribed to pregnant women for nausea and insomnia. It was later discovered to caused severe birth defects and was removed from the market in the 1960s.

We were at 20 weeks gestation when we received the diagnosis. At that stage, doctors couldn’t be certain whether internal organs might also be affected—something that can occur with phocomelia, as bones can be underdeveloped in the diaphragm of the body as well. If the diaphragm is affected, the risk for other organ complications increases. The uncertainty was heavy, and the possibilities were frightening.

We were also told that the risk of stillbirth could be as high as 60%. Hearing that statistic felt paralyzing. It’s hard to describe the fear that comes with being told you may never get to meet your child.

As the pregnancy progressed, however, we learned that in our baby’s case, only the extremities were affected. No internal organs ever showed signs of distress, and with every appointment, we held onto hope.

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