A Rare Disorder: Primordial Dwarfism

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.

Taylor's father helped modify the fixtures in the house so that she could go about day-to-day activities. Light switches were installed only 2 feet off the floor and Taylor became skilled at using anything available to get around, nimbly using pulled-out kitchen drawers as stairs.

Her mother has insisted that Taylor earn her independence by going to public school and learning to cope with a very large world.

"She's going to have to learn her own tactics as she grows up, because the world's not going to shrink for her," says Jennifer. "She's going to experience life, just like anyone else."

Though Taylor has become remarkably independent, her life is still very different from anyone she knows. She continues to be examined frequently, with regular X-rays to make sure her neck is aligned properly to avoid damage to her spinal cord. Taylor's voice is very high-pitched because of her small larynx and vocal chords, and she endures excruciating public reaction to her abnormalities every day.

"They say that I'm a baby and look funny," says Taylor. "And I say, 'Don't call me a baby. I'm not a baby. I'm a big girl.' That's what I say."

Jennifer recalls a day when she and her daughters were in the supermarket together. Taylor was riding in the cart and wanted to speak to her sister, Shea.

"She turned around to Shea to start talking to Shea and another woman just started screaming, 'It's alive. Oh, my God, it's alive,'" recalls Jennifer. "Taylor was too young to understand it, and it just really struck a nerve for me. I just started crying because all I could think of is someday she's going to understand this. Someday she's going to hear this and it's going to hurt."

'Lucky That She Is Who She Is'

Until recently, Taylor knew no one like her. Now, she knows others who have primordial dwarfism, and she connects with them yearly at the Little People's Convention in Minnesota.

As for her future hopes of her little daughter, Jennifer says, "I hope that maybe we can get some research done, and I hope that maybe we could give her a couple of inches or even a pound. That would be great."

She adds, "But other than that, we're realistic and we know that might not happen. I just want her to feel lucky that she is who she is."