news-record.com

One Summerfield family is looking to raise money and awareness about a rare disease that has affected their family.

Emily and Brent Smith are organizing the area’s first Butterfly Walk to benefit the Share & Care Network.

The network provides support and education to families of children stricken with Cockayne Syndrome.

More than a year ago, the Smiths learned their daughter, Abby , has Cockayne Syndrome — the only known case in the state, Emily Smith said.

“It has to do with the way the body repairs DNA,” she said.
“Everyone gets DNA damage every day, and a child with the syndrome, their DNA either doesn’t repair or it repairs slowly.”

According to the Cockayne Syndrome Network, the syndrome occurs when there is mutation of a gene. The disease occurs in children where both parents are carriers of the trait.

“There are no symptoms if you are a carrier,” Smith said. “You’ll never know you’re a carrier unless you marry another carrier and you have a child who gets the disease.”

The Smiths have a 6-year-old son and are expecting a set of twins. Their son does not have Cockayne, and testing shows the twins won’t either.

Cockayne is often referred to as the aging disease. Children with Cockayne display growth failure, have increased sensitivity to the sun and progressive degeneration of the nervous system that leads to handicaps over time.

There are three types of the syndrome. Life expectancy can vary from age 7 to 50, depending upon the type.

Two-year-old Abby has type II. She’s expected to live seven to eight years. There is no known cure.

“You have children who are aging. Some who have more severe cases never walk or sit up,” Smith said.

That’s not the case with Abby.

“We are very fortunate that Abby is walking, but at some point she probably won’t,” her mother said.

Usually when children die from complications of Cockayne, it’s from organ failure.

During the summer, the Smiths, along with Abby and their 6-year-old son, attended a conference for Cockayne patients and their families.
Organizing the walk is the family’s way of giving back to an organization that’s given so much to them, Smith said.

“Our goal is $5,000,” she said. “So far we’ve raised a little over $800.”

The Smiths are looking to raise money and enlist walkers for their event.

“The idea is for walkers to also donate, even if it’s $1, but if they can only walk, we understand,” Smith said.

To donate or sign up to walk, visit www.firstgiving.com/abbyjewellsmith .

Contact Tiffany S. Jones at 373-7157 or tiffany.jones@news-record.com