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.