Nicklaus Hospital specialists help child with rare aplasia deformity

Condition can be life-altering or life-threatening

South Florida doctors help patient with rare deformity from Aplasia
South Florida doctors help patient with rare deformity from Aplasia

CORAL GABLES, Fla. – According to the Centers For Disease Control and Prevention, one in 33 babies born in the United States have some form of birth defect, which can include a rare condition that affects the development of external limbs or internal organs.

When Raul and Aileen Soto went in for an ultrasound to determine the sex of their second child, a boy named Ryan, they learned something wasn’t quite right.

“It was a very, very trying day for my husband and I. Here we have the news that we’re having a baby boy and at the same time find out our baby boy had this issue,” Aileen Soto said.

The “issue” was a condition called aplasia.

“Some of the known causes can be genetic, and we certainly know that from our experience other causes can be things like a rupture of a blood vessel as the embryo is developing,” said Dr. Chad Perlyn, Pediatric Plastic Surgeon with Nicklaus Children’s Hospital.

As a result of the rupture, a part of the body might not get enough blood flow, causing it to not fully form.

In Ryan’s case, the condition affected his hand.

Not only can aplasia be life-altering, it can also be life-threatening.

“In some of our cases where babies are born without noses people don’t realize this but babies have to breathe through their nose when they’re feeding, either breastfeeding or through a bottle, they have to be taking in air, so in that case it’s a real emergency,” Perlyn said.

Perlyn and a team of experts at Nicklaus Children’s Hospital work to use cartilage and skin from other parts of the body to repair extremities like Ryan’s hand.

“When we see aplasia in the organs it can get trickers. Sometimes we need to re-loop the bowel or redirect segments of the bowel, and do cardiac or lung surgery to divert blood flow to other places,” he said.

After three surgeries in early childhood, Ryan is now a happy, active 9-year-old boy.

“If you ask him today, he would say, ‘I wouldn’t change who I am. I wouldn’t change my hand, it makes me special, it makes me different and everybody has their thing that makes them special and different,’” his mom said.

In cases like Ryan’s, many types of aplasia will be obvious at birth or even before birth but some, specifically those affecting internal organs, may not become apparent until later in life.

Annual childhood wellness checks could help detect an unknown case, allowing for early intervention.

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