Local girl copes with rare maple syrup urine disease

Mount Pleasant resident Anna Ruter, 12, smiles as she shows her teacher her completed assignment April 8 at Fancher Elementary School. At eight months old, Ruter was diagnosed with Maple Syrup Urine Disease, a rare metabolic disease where bodily fluids smell like maple syrup. "I'm just an average, normal kid. I am in a different class," she said. "I don't care. I'm still a kid. I have a heart, bones and brains. I'm OK."

Anna Ruter remembers a moment when she could not breathe in late August a couple years ago.

Her cheeks turned red and the butterflies in her stomach fluttered faster than a heartbeat. The Mount Pleasant 12-year-old was suffering from the case of a serious crush when she met High School Musical actor Zac Efron in Los Angeles.

“I was shaking inside when I saw him near the table,” Ruter said. “He has blue eyes, he has freckles and he is funny.”

The only difference between Ruter and other adoring Efron fans is she met him through the Make-A-Wish Foundation, an organization that grants fatally ill children their wishes.

At eight days old, Anna was diagnosed with maple syrup urine disease, an inherited, rare metabolic condition stemming from a body’s inability to break down certain protein types. The disease, also called branched-chain ketoaciduria, is known for giving bodily fluids the smell of maple syrup.

“Her body does not make an enzyme that breaks down the three amino acids and those are components of protein,” said Anna’s mother Paula Ruter, the wife of university events employee Lance Ruter.

Paula Ruter said Anna has always had to follow a restrictive diet of with no meats, dairy, chocolate or soy.

“It is a hard life,” Anna said.

Looking for help

The only cure for the disease is a liver transplant — and Ruter is on a waiting list at the Children’s Hospital in Pittsburgh.

“The enzyme that her body doesn’t make is manufactured in the liver, so the new liver will cure the MSUD,” said Lance Ruter, coordinator of Production Services for University Events.

“I can’t wait anymore. I want this liver transplant soon,” Anna said.

The family plans on holding two fundraisers to assist Anna in the transplant and to raise money the insurance does not cover.

The first fundraising dinner takes place from 5 to 9 p.m. today at Culver’s, 1021 E. Pickard St., and 10 percent of the sales will go toward Anna’s surgery.

The other is a benefit concert from 4 to 9 p.m. Sunday at Rubbles, 112 W. Michigan St. The cover charge is $5.

The hospital plans on calling Anna’s family, who will fly to Pittsburgh for the surgery.

“We have it lined up with a couple volunteer pilots,” Paula said.

Doug Dill is a pilot for M-Z Air Charter Service, 5453 E. Airport Road, and volunteered to fly them.

“I thought this would be a nice thing to do to help somebody out,” he said. “The owners agreed and, if I am available, we will be there for them.”

‘An average normal kid’

Anna has to drink a special medical formula that helps make up for missed nutrients.

Also, whenever her body is in distress from hormonal changes or being sick, her brain swells.

“That is potentially fatal,” Paula said. Because of brain swelling, Anna has some cognitive impairment.

One out of 300,000 births is reported to have MSUD.

“In Michigan alone. there were three families who had this disease when Anna was born,” Lance said.

Anna is the type of girl who loves playing sports, watching TV, and is starting to get into boys, Paula Ruter said, explaining how her daughter has a preference for pink and blue eye shadow.

“They go together, I like blue and pink,” Anna said.

Sometimes things are hard for Anna when she cannot eat chocolate or meat, but she still reminds others she is a regular girl.

“I’m just an average normal kid, I am in a different class, I don’t care, I’m still a kid, I have a heart, bones and brains, I’m okay.”


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