A Rare Disorder: Primordial Dwarfism

July 9 -- When she was 6 years old, Taylor Marcello weighed 11 pounds.

At only 30 inches tall, she appeared doll-sized compared to her fellow first-graders.

Taylor, now 8 years old and 13 pounds, suffers from a rare disorder called primordial dwarfism. Amazingly, in spite of her diminutive stature, she has managed to live a relatively normal life.

Confusing Condition

Though Taylor was only born one month prematurely, she weighed 1 pound, 13 ounces. No one knew why she was so small, including her 23-year-old mother, Jennifer, who had already given birth to a healthy daughter named Shea.

One doctor suggested that Taylor's condition could be due to fetal alcohol syndrome, which would have meant that Jennifer had consumed alcohol heavily during her pregnancy. Though Taylor's features were consistent with FAS, Jennifer said she didn't drink during her pregnancy.

So Jennifer began calling groups and organizations to investigate unusual disorders and dwarfism. But Taylor's body had normal proportions compared to the most common types of dwarfism, in which the limbs appear out of proportion to the body.

When Taylor was 7 months old and weighed 4 pounds, Jennifer's search for information brought her to the Alfred I. DuPont Hospital for children in Wilmington, Del., where Dr. Charles Scott, the chief of medical genetics, provided a diagnosis.

"Primordial dwarfism is a very, very rare condition in which there are only a few dozen patients known in the medical-published literature of the books," says Scott of Taylor's condition.

The diagnosis was a relief to Jennifer. "The day they told me that Taylor was a dwarf was the best day in seven months. For the first time, I felt like I could really smile." she says. "Knowing that God made her this way, it's OK that she's so tiny."

Welcome Diagnosis

The cause of primordial dwarfism is a mystery, but having at least found a diagnosis, Jennifer's next step was to give Taylor the opportunity to live her life.