The NIH can't cover every orphan disease and every potential treatment, leaving people like Lopez fighting for insurance coverage and people like Hempel to do their own fundraising for hundreds of thousands of dollars.
Since her experience fighting for her daughters' treatment, Hempel started the Addi and Cassi Fund for other Niemann Pick Type C sufferers and to "bring attention to the drug development crisis and to push for change." http://addiandcassi.com/?page_id=31
Yet faulty as the clinical trail system may be, a leading Harvard academic says it's crucial to have an objectively third party such as the FDA between those potentially profiting from a drug and those who are in desperate need.
"Individuals who have serious illness need some impartial referee to evaluate the scientific evidence and see if it's worth it," said Dr. John Abramson, clinical instructor at Harvard Medical School and author of "Overdosed America."
"From the point of view of the drug company, its primary goal is responsibility to their shareholders," he said. "They would like to get their drug in use, and if they can do that prior to FDA approval that's good for them."
However Abramson said that can be detrimental to the interests of the family, who would seek treatment whenever possible.
"Sometimes you say 'what the heck, these are serious illnesses, this person is going to die and suffer.' But the truth is we [through untested treatments] can make it worse, we can make it a lot worse," he said.