Faces of Rare Disease: Apert's Syndrome

Faces of Rare Disease: Apert's Syndrome

A one-year-old Merryville girl is living with a disorder that has caused many people to do a double-take, looking at her fused hands, feet and concave mid face. Her name is Jennifer Doyle and in this "Faces of Rare Disease" I found out why it is the mission of the child's family to bring attention to Apert's syndrome.

Laughter flows out of 18-month-old Jennifer, a sweet little girl with no hint that she has been different since the day she was born. "I had no problems in the pregnancy," said her mother, Kimberly. "Everything was perfect. All of the ultrasounds were perfect, they said they didn't see anything wrong and she looked perfectly healthy."

Ultrasounds are perhaps the biggest diagnostic advancement in pregnancies, but they still shield some abnormalities. That was the case for Kimberly and Dustin Doyle. "The nurse asked did we know that she was going to have a problem," said Kimberly, "and we had no idea what she was talking about."

That problem could be seen immediately when Jennifer was born: fused fingers and toes, resembling mittens and socks and a fused skull - all characteristics of Apert's syndrome, according to Dr. Jessica Jang at Pelican Pediatrics in DeRidder. "Apert's syndrome is a genetic disorder where we see premature closure of the bones in the head and fusion of the fingers and the toes," said Dr. Jang.

Apert's syndrome is caused by a spontaneous mutation or passed down from a parent with the disease. The likelihood of the diagnosis is one in 200,000. "They have to undergo multiple surgeries, they can have developmental delays just from having to use their hands and feet differently than other children," said Dr. Jang.

Most people can simply use our hands to hold a toy or pick up a leaf. But for someone with Apert's syndrome, they have to learn how to do things a little differently.

Jennifer has had to learn to grasp with fused fingers and walk without the stability of toes. She faces a long road ahead with reconstructive surgeries. "They could have at least 20 surgeries their first 20 years," said Kimberly, "but the only surgeries we're really interested in right now is getting her mid face and getting her fingers."

The hand surgeries will allow Jennifer to become more independent. The mid face surgery will detach the facial bones from the eyes to the jaw and space out with bone grafts to give the face a more "normal" appearance. "I just want her to live a normal life," said Kimberly, "I don't want her to feel different than anybody."

Jennifer and others with Apert's syndrome can live a normal life and that is what this mom's dream is for her child, that is oftentimes the center of stares. "No matter what's wrong with a child, that they're still a child," said Kimberly, "that just facial differences don't make a child."

People with Apert's syndrome are more prone to eye and ear problems because of the skull and facial issues. Physical therapy is a big part of their days, learning to use their fingers and toes after multiple surgeries.

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