Chris Hempel might have been the unlikeliest of people to win approval from the government to start research on an experimental treatment.
Five years ago, the Nevada mother had successfully built her public relations business and was ready to start her new life as a mother of identical twin girls, Addison and Cassidy.
But fast-forward five years and Hempel has accomplished a feat in the medical world few lay people have. She is one of few private citizens who have successfully persuaded the Food and Drug Administration to allow experimental treatment that might help relieve her girls' rare incurable condition.
"Once you pick yourself up off the floor and you realize, you make a decision," she said. "We made a decision that we're going to fight."
The girls initially appeared to be healthy, but when they became toddlers, Hempel noticed that her girls started to act as if they were falling into a strange sort of childhood dementia.
"They were falling down. They were losing their concentration," said Hempel. "I just said this is not normal, something is really going wrong with their brains."
Then, in October 2007, the Hempels got the diagnosis. Addison and Cassidy, now 5, had a rare disease called Niemann-Pick Disease Type C. Their shared genetic mutation would lead both girls into a mental and physical decline, and near certain early death.
"Even with the best quality supportive care, affected individuals die prematurely," said Dr. Marc C. Patterson, chair of child and adolescent neurology at the Mayo Clinic in Rochester, Minn.
Affected people are unable to metabolize the cholesterol properly within their cells, causing excessive amounts to accumulate in the liver, spleen and brain.
Doctors told Hempel only 500 people worldwide had been diagnosed with the disease. The only medicine that has any effect costs $160,000 a year and won't cure the disease.
The family would have had no idea that their girls were at risk either. Patterson explained that the Niemann-Pick Type C is a recessive trait and that parents have no symptoms and that there not be a history within a family.
So Hempel and her husband, Hugh Hempel, rearranged their lives to find a treatment doctors had overlooked. She started a Web site to feature the girls and gain attention for their cause. The girls' maternal grandparents came to help take care of them and Chris Hempel started a full-time job doing "medical forensics" as she put it.
It took her two years but Hempel found a treatment with the chemical cyclodextrin that had been successful in mouse studies.
"In our disease we don't have the time to wait for a new drug; we have to find things that are sitting on a shelf," said Hempel.
She applied for the so-called "compassionate use" FDA approval for patients who have no other options and would like to volunteer to be their own clinical trial. Hempel said she was at first denied, but finally won approval three weeks ago after she hired someone to write the application.
Hempel convinced the FDA that using cyclodextrin was safe in part because it was already used as an additive in cholesterol-free foods and used as an additive in an FDA-approved fungicide.
Typically compassionate use treatments carry far more risks and families asking for compassionate use approval have to find drugs that have many more years worth of safety data research.
"You got to try to move as fast as I can," said Hempel. "All of this is cholesterol-related; my kids have one of the worst cholesterol diseases on the planet. ? I'm trying to move as fast as cholesterol."
Despite Hempel's success with the FDA, the disease and the treatment will likely pose challenges.
According to Patterson, cyclodextrin has only proved beneficial in mice before they showed symptoms, not after. Mice studies rarely translate into human success, and, Patterson said, it is difficult for doctors to measure whether the drugs are working in neurological diseases like Niemann-Pick Type C.
But Hempel has already begun to try. The girls have been fitted with a chemo port that will allow their blood to be infused with the compound.
Working with doctors at Renown Regional Medical Center in Reno, Nev., the Hempels are now attempting to document the girl's condition before treatment.
"We want to see where we are today, because how else are we going to know if it takes an effect?" she said. Among other things, Hempel said the doctors are trying to measure the amount of cholesterol excreted in the stool.
"Now we have to collect diapers and we have to freeze them," Hempel said.
Patterson said whatever the outcome of the girls' treatment, he thinks families like the Hempels make a difference.
"This story exemplifies the extraordinary dedication that mothers like Chris Hempel and Cindy Parseghian [three of her four children died from Niemann-Pick Disease Type C and she raised millions of research dollars] bring to the pursuit of help for their children," said Patterson.
"There are countless stories of such parents but only those with access to the media become known to a wider public," he said. "The burden of suffering associated with these rare diseases is far in excess of their numbers."
Find out more at www.addiandcassi.com.