Event puts spotlight on rare health disorder

She is living her life to the fullest, even though she can’t walk or talk.

Twelve-year-old Breanna Leatherwood of Tuscaloosa is one of about 50 females in Alabama known to have Rett syndrome, a neuro-

developmental disorder that affects a gene on the X chromosome and occurs almost exclusively in girls between 6 months and 18 months old. After that, they lose any language or motor skills that they have developed, said Alan Percy, a child neurologist at the UAB Civitan International Research Center.

Rett syndrome is not curable. Breanna could live into her late 50s, as expected of most Rett syndrome patients, but she will require constant attention for the rest of her life.

So in 2007, her godmother, Marilyn Archibald, helped start the Southeastern Rett Syndrome Alliance, which provides support for the girls and families affected by the disorder.

“We want to provide local support and awareness,” said Archibald, who is president of the alliance. “So often, parents feel like they’re in a cocoon taking care of a Rett syndrome child. It is a full-time job.”

The alliance will host a walk and run Saturday at Hillcrest High School to raise awareness about Rett syndrome and raise money for the UAB Rare Disease and Research Center, Archibald said.

Members of the Tuscaloosa City Council, Tuscaloosa Police Chief Steven Anderson and other local officials have been invited to the event. Professional boxer Deontay Wilder, a Tuscaloosa native who earned a bronze medal in the 2008 Olympics, is also scheduled to attend.

The alliance is hoping for a large public turnout. Breanna and other children with Rett syndrome from the area will be there to lend their support.

Percy said Rett syndrome children lose some use of their hands and appear to be autistic. The signature sign of Rett syndrome is unusual hand movements that go on continuously while awake, preventing girls from doing anything else with their hands.

“The majority learn to walk,” Percy said. “Though it is in an unusual, unbalanced way without a purpose. Very few would be able to open a door.”

The disorder affects nearly one in 10,000 females of all ethnic groups worldwide. And though the syndrome is not curable, treatment can be sought to manage symptoms, Archibald said.

The alliance works closely with Percy, who is the clinical director of the Rare Disease Clinical Research Center. The UAB center is one of only three clinics in the country that focuses on Rett syndrome.

Although the alliance’s main source of money comes from national grants and the UAB Civitan International Research Center, the alliance hosts fundraisers for the center’s activities as well, Percy said.

Along with the run this weekend, the alliance holds an annual conference for families, teachers, nurses and others affected by Rett syndrome. Speakers address the group, which consists of people from all over the Southeast and around the country. This year’s conference will be in August.