ACPA Family Services

Cleft-Craniofacial Community Stories

The Aberl Family

My husband, Shawn and I decided in late February 2002 that we were going to have a baby. We had been married 2 1/2 years, and were raising four children from previous marriages. Shawn has three girls, ages 13,12, and 10 years old, and I have a son who is 7 years old. We found out that I was pregnant on April 5th. The pregnancy progressed normally, with absolutely no morning sickness, but several fainting spells. I had two ultrasounds, one at 11 weeks to determine the due date,and another at 20 weeks because the doctor had said that I was too big (thanks). Neither one revealed any birth defects or even gave us a reason to think that there was anything to worry about. So, we were anticipating the birth of a healthy baby.

Shawn Patrick II was born December 16th, 2002, by emergency cesarean section due to fetal distress. I remember being taken into the operating room, asking for my husband as they made the incision, and then hearing my baby’s lusty cry. Later, in recovery, my husband came to check on me and give me the news. Shawn was born with a cleft lip and palate, as well as a club foot.

Further tests revealed that he had a rare genetic syndrome known as Popliteal Pterygium syndrome. Doctors told us that this is a genetic condition, but neither of us can trace it in our family histories. We have now been told that it was a “spontaneous genetic mutation.” This syndrome affects approximately 1 in 300,000 children. Although his cleft lip is very mild, he has a long road ahead of him. Shawn not only has a cleft lip, palate, and club foot, but also has pterygia (webbing) behind his right leg, webbed toes, webbed fingers, salivary lip pits (upper and lower), and bands of tissue in his mouth that prevent him from fully opening it. Being in the military, we were moved almost immediately from Alaska to one of the military’s best medical centers.

Shawn is scheduled for his first surgery at 8 months of age, at which time the doctors will correct his cleft lip and palate. A later surgery will be needed to correct his leg, and he will need several more over the course of his childhood to keep up with his growth. Aside from this, Shawn has not had as much as a common cold. He has been completely healthy.

I remember very clearly when my husband told me about Shawn. I replied very simply with “Oh, O.K.”. Shawn may be different, but he is a wonderful baby. He is beautiful and incredible in every way possible. Each time he smiles, I am reminded of how much love we have for him. He truly is a miracle.

Last Updated: Jul 24, 2006