Rare disorder

WARREN TWP. – What child could turn down a snow cone during an end-of-school party?

Six-year-old Presley Cunningham could. And did.

The then-kindergartner at Warren Elementary School was offered the frozen treat in May, but because it wasn’t one of the foods her mom told her was OK to have, she respectfully declined.

Presley was diagnosed at 10 days old with classic galactosemia, a genetic condition in which the body cannot break down a simple sugar called galactose. The rising levels of galactose can cause liver damage, kidney failure, cataracts, brain damage and more.

Presley is on a very strict diet that excludes all dairy products and some other foods. The snow cone would have been all right, said Presley’s mom, Cathy Cunningham. But she hadn’t given Presley the all clear, and the girl is very diligent about not eating anything that’s off limits.

“It’s really amazing. She will just tell you, ‘Oh no, I can’t have that; I have galactosemia,” said Cathy, 40. “She gets it.”

Asked why she has to be careful about what she eats, Presley responded simply, “Because I have galactosemia.”

“It’s where you can’t have milk,” she explained further, due to a problem with – after a little coaching from Mom – her liver.

It’s not that Presley doesn’t know the facts about this disease that many adults haven’t even heard of; she was just more interested this week in playing with her younger brother George, reading a Halloween story she wrote at school and making up songs on the fly while strumming her purple guitar.

While some children with galactosemia demonstrate developmental delays, speech problems and more, Presley hasn’t experienced any of these to date.

“We are unbelievably blessed,” Cathy said.

Fear was what Cathy and her husband Randy were feeling in the days after Presley was born, as their first child struggled to keep down the little breast milk she would take and her jaundice level kept rising. The girl was losing weight rapidly and appeared “gray and lifeless,” Cathy recalled.

The results from a newborn screening finally showed that Presley had classic galactosemia, and she was switched to soy milk as the family was taken to Nationwide Children’s Hospital in Columbus.

“It was almost immediate,” Cathy said of the change in her daughter. “It was just like her little body, the light finally went on.”

The diagnosis was daunting.

“We were just kind of bewildered,” Cathy said. “In your mind, you know there are places like Children’s Hospital. But babies are (supposed to be) born healthy.”

But there was also optimism, even as the family spent that Christmas at the hospital.

“She was surrounded by doctors,” Cathy said. “You knew at that moment you were in the right place.”

The family set about learning how to deal with galactosemia and what foods were unsafe for Presley. Cathy thought her daughter would be unable to eat not only dairy but also things like tomatoes – so no pizza or spaghetti sauce, no ketchup and on and on.

“In your mind, you’re mentally making those things with different ingredients,” she said.

When the Cunninghams were first introduced to galactosemia, “the most up-to-date research was pretty old,” Cathy said. Galactose is found in many foods, including a lot of vegetables. But it also occurs in the body naturally at certain levels and as research has continued, more and more foods have been found to be acceptable, at least in limited amounts.

“Just in six short years, they’ve completely redone the diet guide because of money parents have raised,” Cathy said. “It’s opened up so many things. Now they do not restrict only but, like, one or two different vegetables.”

The family generally does not prepare separate foods for Presley, so they eat what she eats. That’s led to some discoveries.

“Almond milk makes the most to-die-for ice cream,” Cathy said.

Money for the research that’s help changed the diets of Presley and others with galactosemia is distributed to researchers through the Galactosemia Foundation, a nonprofit group founded in 1985 by a mothers of galactosemic children. The foundation has an annual conference every two years that provides an opportunity for families to learn about the latest research and meet the people doing it.

Meeting other families through the conference, as well as a local family dealing with the disease, helped the Cunninghams not to feel alone, Cathy said. She described attending the 2010 conference in Minneapolis, where she didn’t know a single person, “like going home.”

Without the foundation, there would be little to no money for galactosemia research, since it’s not very widespread or well-known, said Scott Saylor, a member of the group’s board.

“We get no government money,” he said. “It’s one of those diseases that’s called an orphan disease.”

Last year, the all-volunteer foundation had its biggest fundraising year yet, taking in about $300,000, Saylor said. Of that, $250,000 was granted to doctors and dietitians for research. Saylor and his wife organized a golf outing and silent auction that raised $50,000.

The Cunninghams started fundraising for the foundation last year with a raffle that brought in $2,200. This year, they’re adding a race, the inaugural Presley’s Promise 3K Run/Walk for Galactosemia.

People can register online by following the link from the event’s Facebook page or starting at 9 a.m. in Marietta’s Indian Acres Park, where the race will begin and follow the River Trail. Everyone entered will be eligible for door prizes, and tickets will be sold for this year’s raffle, with a top prize of $500.

Presley’s brother plans to run the race with his cousin, but the event’s namesake will probably be helping out with other parts of it.

“Because it’s a 3K race and I might get tired,” she explained – despite demonstrating enough pent-up after-school energy to make one wonder if she ever slows down.

George does not have galactosemia but was diagnosed with the even more rare genetic disorder Schmid-Fraccaro syndrome. He’s undergone multiple operations, including open-heart surgery when he was seven weeks old.

Cathy said the family wants to do a fundraiser at some point for the Heart Center at Nationwide, but is working on galactosemia now, since it is lesser known and receives less funding than cardiac conditions.

Cathy said a high percentage of girls diagnosed with galactosemia experience ovarian failure and few have children. She said she tries not to think about that now because it’s a long way off and perhaps when Presley gets older, the research will have found a cure.

“That’s why we’re doing fundraisers. That’s why we’re doing research,” she said.