The technician was a familiar face—one you come to know when you live in a small town. She had confirmed our first pregnancy and shared the genders of both of our children. This ultrasound felt routine, so I wasn’t paying close attention.
She handed me the sealed envelope for baby #2s gender and sent me on to my appointment. I was alone—our first child was at a friend’s house, and my husband was at work. That didn’t bother me. I wasn’t expecting anything out of the ordinary. We planned to find out the gender later that evening.
Then my OB walked into the room.
He looked me in the eyes, uncertainty and confusion written all over his face, and explained that the ultrasound tech had called ahead. She hadn’t seen any visible extremity growth. I asked him what that meant. I was confused—surely the baby had just been moving too much to get a clear view. It had to be nothing.
He recommended sending me to Maternal Fetal Medicine, a specialty clinic for high-risk pregnancies. I had been there before during my first pregnancy, so the referral itself didn’t immediately alarm me. But he explained that while he had seen things like amniotic band syndrome, he had never seen anything quite like this. He wanted a more in-depth ultrasound.
I left the office and immediately called my husband. I was crying, completely shocked by what had just happened. I told him to stay at work and try not to worry—we didn’t have confirmation yet. Once we heard from MFM, then we’d face whatever came next.
Thankfully, we were able to get an appointment the very next day.
The ultrasound was long and silent. This time, we weren’t casually watching the screen—we were searching. Looking for arms. Hands. Feet. Anything.
When the doctor came in, he was serious and professional, clearly trying to hold back his own emotions. Looking back now, I can only imagine how difficult it must be to deliver news like this. Doctors are human too.
That’s when we received the diagnosis: phocomelia.
Phocomelia is a broad term used to describe shortened, underdeveloped, or absent limbs. In our baby’s case, he had a very shortened humerus with no hand present and his foot was attached at the hip. On the other side, there was no upper extremity and only a partial leg with a full foot.
That’s when it all hit us like a wall.