Andrew's Journey With Apert Syndrome

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Craniofacial Surgery: Tennessee Craniofacial Center Erlanger Health System

Erlanger on Apert:
A PDF File

Nat'l Org. for Rare Disorders: Apert's & Related Conditions

Craniofacial Work at Columbia:
CPMCnet

Apert Syndrome: Faces-Cranio Disorders

Clinical Variability in Patients:
Neurosurgery.Org

A CONGENITAL DEFECT FOR ONE IN 200,000 ... BECOME SOLDIERS WHO ARE ONE IN A MILLION

MARCH 1999

Apert's Syndrome
Hope for Our Andrew and Others
With This Rare Disorder

BY HIS PAPA

On March 19, 1999, nine years after the birth of our first and only child, we became the parents of Andrew John. It was an extremely painful delivery, as a large head just wouldn't budge in the birth canal. With much prodding and supportive coaching from the family doctor, a couple of support birthing staff and me, my wife Sherri finally delivered a son.

As Sherri asked if the baby was okay — at 41, she was concerned about the possibility of Down's Syndrome — but the medical staff at hand looked uncomfortable, seriously distracted and reticent to say much.

After Sherri's delivering physician issued a brief "No, he doesn't have Down's," Andrew was rushed off into an adjacent room. While a specialist prodded Andrew's nasal passages and throat with tubes, Sherri began an hour-or-so stint of being stitched up, as she had torn clear to the rectum. Andrew's head didn't give in the birth canal, we soon found, because it couldn't.

In all, I noticed what had the doctors a bit alarmed:

Fused fingers on both hands, although the thumb on each hand appeared separate.
Webbed and canted toes.
A larger-than-normal skull; later we would find that the frontal plates of his skull were fused and his softspot began at the center
and base of his forehead.

For the first night, Andrew even looked a bit like a conehead from the ordeal. His head seemed to be two-thirds from the eyes up and only one-third from the eyes to the chin. His mid-face plate, the area between his eyebrows and nose, was receded and tipped back, so that Andrew eye's would look upwards more easily than down.

The following morning, a genetics specialist from the Weisman Center came in to examine Andrew. He quickly recognized what we had previously never head of: our newborn Andrew had ... Apert Syndrome — what was that?