Like most parents who have a child with a disabling disease, Samra and Leonard Savioz of Franklin Park have spent the 12 years of their daughter's life on an emotional roller coaster, sometimes frustrated by the challenges, sometimes elated by the successes, but never hopeless.

Even though it took eight years to finally diagnose Remi's disease as glucose transporter type 1 deficiency syndrome, the Saviozes have quickly become advocates of awareness of the rare genetic disease and the search for a cure.

Saturday they'll hold the first fundraiser for the Remi Savioz Glut1 Foundation -- remisglut1foundation.com -- one of only four foundations nationwide that raise money for the disease. People are invited to the North Park Boat House Saturday morning for 5-, 25- or 50-mile bike rides, a silent auction and a carnival.

"We want to raise awareness so doctors and people know this disease is here," said Ms. Savioz, 39, who grew up in Monroeville and is a personal trainer and lifestyles coach. "But I don't want to just put her name on it to market her. I want to do something for the research of Glut1 for all the other families with this."

While they never felt truly hopeless about Remi's condition, about three years ago, the Saviozes, who have an older daughter, Baela, 14, came close.

Remi then was 81/2, and whatever it was that had caused her a lifetime of seizures, resulting in an inability to speak and difficulty controlling her motor skills, still had not been diagnosed. She was tested over and over again and her records were sent to doctors all over the country. A daily salad of drugs to try to contain the seizures only resulted in mild improvements and caused side effects.

When she was 4, Children's Hospital of Pittsburgh of UPMC held a roundtable of more than 20 neurologists to analyze Remi and debate a diagnosis.

None of it worked, though the guesses were often epileptic and neurotransmitter-related diseases.

Then, in 2007, Remi began having new tremors in her hands that were so severe they were trying to control them with weights strapped to her hands.

"As a parent you don't ever want to give up, but you think: Is it time?" said Ms. Savioz. "I told Lenny, 'Maybe we should just treat the problems and do the best we can and realize that's it.' "

That low ebb turned into a moment of inspiration and a new perspective.

Ms. Savioz remembered a straightforward doctor in Cleveland, where they lived when Remi was born, who had told them he simply didn't know what may be causing Remi's seizures -- which began in the first week of her life -- and it would be easier to diagnose Remi when she was older and new symptoms developed.

They went back to Neil Friedman of the Cleveland Clinic. He read through two crates full of Remi's medical records, and a team of specialists analyzed her from head to toe.

Because of her symptoms, one of the specialists, Rocio Moran, a medical geneticist, was the first to think it might be Glut1, as it's known.

A test confirmed her suspicion and Dr. Friedman finally had an answer.

"For most parents, it's a huge relief just knowing, to have a name to what caused this, and the Saviozes were like that," Dr. Friedman said.

Ms. Savioz said there was also regret: "We were kicking ourselves thinking, 'We should have gone to see him earlier.' "

Glut1 was first identified in 1991 by Darryl De Vivo, a pediatric neurologist and researcher at Columbia University in New York City, who had a patient with symptoms similar to Remi's.

He figured out the seizures were the result of the brain not producing enough energy from glucose, a sugar, an essential component of energy production. Glut1 patients don't produce enough of the proteins that transport glucose to the brain. As a result, they may have only half the energy, or glucose, needed for normal brain function.

The disease is detected by doing a spinal tap and testing to see if there is a relatively low amount of glucose present in the spinal fluid -- which reflects brain energy supply -- compared to the glucose in a person's blood.

Confirmation is done through genetic testing, thanks to Dr. De Vivo's 1998 identification of the first of many gene mutations that cause the disease. Ninety percent of them, like Remi's, occur without being inherited from the parents.

Currently only about 200 people worldwide are confirmed with the disease. But like with Remi, Dr. De Vivo believes there are many, many more.

"It isn't so few and so rare now," said Dr. De Vivo, noting only a dozen or so were found in the first few years after he identified the disease. "Now I would dare say there are hundreds -- and that is just the tip of the iceberg. There are probably thousands of cases that have never been properly identified."

Because of the metabolic demands of an infant brain -- which needs about three times the energy of an adult -- the impact on development can be significant, making early detection crucial.

The only known substitute energy source for glucose tried to date is ketone bodies, which result when the liver converts fat into energy.

Dr. De Vivo began putting the few patients he initially identified on the ketogenic diet that prescribes high-fat, low-protein and carbohydrate foods. It had been known for decades to help epileptic patients with their seizures.

The diet normally proscribes 2 or 3 grams of fat for every gram of protein or carbohydrate. For Glut1 patients, the ratio had to be bumped up to 5-to-1.

After Remi was diagnosed in 2007, she was quickly placed on the diet. The seizures disappeared, she began to learn how to talk and was able to soon get rid of the foam helmet she regularly wore in case she fell down.

Still, despite the results, it's a hard diet to like, even on the best days.

"There's no room for error," said Mr. Savioz, 40, a therapy consultant for implantable devices like pacemakers who grew up in suburban Philadelphia.

Remi is never allowed to have candy, soda, cake or ice cream -- which contain sugars that can throw her way out of balance. And she can never vary from the diet, for fear that her body won't take to it again if she stops.

"People are like, 'I like fat.' But it's not just a fat diet. It's a HIGH fat diet," Ms. Savioz said. "When we first started, to get the ketone bodies going, she was literally eating sticks of butter."

If you ask Remi what she eats now to get her fat, she bounces over to a cabinet in the kitchen and pulls out a 64-ounce plastic bottle of Crisco Pure Canola Oil -- one of about two such bottles she goes through every month. From the bottle she'll regularly down a couple grams of the oil if she needs to balance a meal.

Other options are more appetizing -- but not by much, since the menu is so limited. A regular snack is sliced cucumbers -- one of the few foods she can eat as much as she wants -- dipped in fatty ranch salad dressing.

Remi, a bubbly, gregarious girl who likes to play games on the Internet and swim at her local pool, still has difficulty talking. She is still trying to learn to read and is not functioning at her age level, and may never, her parents acknowledge.

But the dramatic improvement in her abilities in the three years since her diagnosis made her parents hope for even more.

Last year they attended a meeting in Chicago for parents of kids with Glut1, set up by a group of families, where the few researchers of the disease talked about what the hopes were for the future.

At one point, Ms. Savioz introduced herself to one of those researchers, Juan Pascual of the University of Texas, and he asked to meet Remi. There was an instant connection, and the Saviozes agreed to meet Dr. Pascual in Texas.

While there, Dr. Pascual told Remi he wanted to help her and she told him: "I really want to eat regular food."

It brought Dr. Pascual to tears.

"That was a tough day," said Dr. Pascual, who has worked with Dr. De Vivo. "But she's so sweet, so amazing. You want to help her and all the kids with this."

But like Dr. De Vivo, Dr. Pascual has struggled to get funding from the National Institutes of Health -- which is often the only funding source for rare diseases.

When he told them this, Ms. Savioz asked: "How much do you need?"

Dr. Pascual explained the typical NIH funding is $1.25 million for a 5-year study, and she responded: "Well, then, I'm going to get you that money."

This Saturday's fundraiser -- during which the Saviozes hope to raise $50,000 -- is the beginning of that effort.

Can they do it? The other three foundations currently out there -- the Colleen Giblin Foundation, Milestones for Children and The Will Foundation -- together raise less than $300,000 a year to help Dr. De Vivo's research at Columbia.

Dr. Pascual, noting Ms. Savioz's steely determination, wouldn't put it past her.

"She is a force of nature," he said of his friend, Ms. Savioz. "And they have hope for their daughter driving them."

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