A rare innocence

Taylor McKee likes to shoot baskets outside her Muncy home, swim in a backyard pool and take pictures of people making funny faces.

Taylor, 15, is like many teenagers, but she has about her a sweet, child-like innocence.

She lacks the intelligence of most teenagers and, although she can speak in full sentences, many of her words sound garbled.

“She loves her baby dolls,” said her mother, Shelly.

Shelly always knew her daughter was different but until recently didn’t know exactly what was wrong.

In October, Taylor was diagnosed with MECP2 duplication syndrome.

What that means is that an area of Taylor’s one X chromosome has been erroneously duplicated, according to information from the Rett Syndrome Research Trust.

Her mother called it having an “extra piece of genetic material on her chromosome.”

Chromosome microarray testing at Geisinger Medical Center in Danville revealed Taylor had MECP2. The testing basically involved a comparison of her DNA against that of a control sample “normal” DNA.

MECP2 is a very rare syndrome.

So rare, in fact, that Shelly knew of no other person in the region with it.

Two weeks ago, she and her daughter went to the Baylor Medical Center in Houston, Texas, where they met parents of other children with MECP2.

It was an eye-opening experience to find other people, most of them children, with the syndrome, Shelly said.

In many cases, they had more severe cases than Taylor’s.

While MECP2 is rare, Taylor’s case is even more unique because she is a girl.

“Girls don’t normally have it because they have two X chromosomes. The good (X) chromosome takes over,” Shelly explained.

Boys have both X and Y chromosomes. They have just one X chromosome and normally show more severe symptoms.

“I just feel blessed that she is as good as she is, physically,” Shelly said.

For the longest time, Shelly had done her own research on what might have been wrong with her daughter.

As a baby, Taylor was slow to begin talking and walking.

Through her childhood, she simply did not develop at the same rate of other kids her age.

“She used to fall a lot when she was smaller,” Shelly said.

Taylor attends the life skills program for special-needs children at McCall Middle School in the Montoursville Area School District. She receives speech and occupational therapy and is receiving help with her social skills.

“She can’t stay on focus for very long,” said her mother.

Yet, Taylor has shown improvement over the years, including with her speech.

Many questions remains about MECP2, but some research has shown there is hope for a cure. Shelly is crossing her fingers.

“Seventy-five percent of these kids develop seizures,” she said.

MECP2 has a genetic component.

The majority of people with the syndrome inherit it from their mothers, who typically are asymptomatic due to favorable X chromosome inactivation, according to research.

Carrier mothers have a 50-percent chance of passing the duplication on to their children.

Shelly said she has not been tested to see if she is a carrier.

She hopes to get the word out to others who might be in the dark about their own children who have the syndrome

“I think it’s being very under-diagnosed,” she said.