May 25, 2009 -- Few stories of desperation could match that of a parent fighting a bureaucracy to help their dying loved one.
In the last couple years, some families have become real professionals at getting the latest untested treatment that holds promise, triggering a debate that pits medical ethics against a mother's love for a suffering child.
When Penny Lopez, 25,learned that two of her three young children had Sanfilippo Syndrome -- a rare genetic disease that would lead to mental decline and certain death before adulthood, doctors told Lopez that "there is no treatment, no cure for it."
"They gave us no hope," said Lopez, of Lakewood, Wash.
But Lopez refused to listen. First she found a doctor at Duke University who was developing stem cell treatments.
Her 5-year-old daughter Hannah could not be helped, but Duke researchers were hopeful that the treatment could slow the disease in her 1-year-old son, Aiden.
Although her military health care, TriWest HeathCare, twice denied the $700,000 treatment plan, Lopez did not give up. She called up local news stations with her story and got a congressman to write a letter of appeal.
Finally, TRICARE agreed to use a part of the contract allotted for rare diseases to approve the stem cell transplant. The Lopez family and TRICARE were willing to risk the 30 percent chance that Aiden would not make it though the entire treatment.
Lopez might seem alone in her work, but several families this year have used savvy public relations campaigns, appeals from powerful people and old fashioned negotiation to get expensive, untested treatments for their dying loved ones despite debates from doctors and regulators about whether this trend is a good idea.
Last week, the Thompson family of Virginia Beach gained national attention in The New York Times for their fight to win access to a $100,000 a year drug called Iplex for Lou Gehrig's disease.
Chris Hempel of Reno, Nev., waged a two-year, full-time public relations, networking and research campaign at finding a new drug for her 5-year-old twins Addison and Cassidy.
The Hempel twins suffer from a rare, degenerative and genetic disorder called Niemann-Pick Type C. Like Lopez, Hempel was faced with few options to treat her children. So, like Lopez, she looked up the latest research and found a treatment that was neither covered by her insurance nor tested by the U.S. Food and Drug administration.
After appearances on national television shows, and several written appeals to the government, Hempel won a compassionate use designation from the FDA to try infusions of a compound used in cholesterol free foods called cyclodextrin.
"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," Hempel told ABCNews.com in April.
For people like Lopez and Hempel, there is no question about the importance of fighting for new treatments that might help their children.
But this same trend stirs debate among doctors and drug regulation experts whether an ethical choice for one family may actually do more good or harm for others in the future.
Saving the Few, Saving Many and New Drug Discoveries
Dr. Nortin Hadler, author of "Worried Sick: A Prescription for Health in an Overtreated America" and "The Last Well Person," says a high number of compassionate use decisions for experimental drugs might be good for individuals in the short term, but can have many pitfalls.
"The question is will you remove the ability to test your theories if everyone is allowed to jump over the promise of benefit?" asked Hadler.
In most cases academic researchers and, primarily, drug researchers who have a theory about a medical advance must do clinical trials to prove that the treatment works.
But in cases where drugs are approved for compassionate use, Hadler worries the public might latch onto treatments before the theories behind them are tested.
Hadler said the nation has seen this scenario before. In the late 1990s several patients brought lawsuits against insurance companies who denied coverage for experimental bone marrow transplant treatments for terminal breast cancer.
"There was a theory, and there were big lawsuits against HMOS and insurance companies that wanted to say 'wait a minute let's just see what this does,'" said Hadler.
Doctors thought they could use higher doses of chemotherapy safely if they also did bone marrow transplants to protect women from the toxic drugs, according to a 2002 review and timeline of the history in the British Medical Journal.
At the time, there "were few data" about the bone marrow transplants at all, but there was a lot of media attention given to the theory in national newspapers, according article by Gilbert Welch, Juliana Mogielnicki in the British Medical Journal.
Health insurance companies lost so many lawsuits from women wanting coverage that they actually paid for a clinical trial to determine if the bone marrow treatments were effective.
"It turned out to be more harmful than good," said Hadler.
"Where do we have the right to assume more benefit than risk and that the theory is right," he asked?
On the other hand, Dr. Scott Gottlieb, former deputy commissioner for medical and scientific affairs at the FDA, said the most recent examples of high profile battles for treatment in the news would not likely affect the way medical research in the nation as a whole.
Do Rare, High-Profiles Fights Even Matter?
Gottlieb said many of the latest high profile fights for untested treatments are for the diseases so rare "that the drug isn't being studied otherwise."
"The bigger problem is the way that we develop cancer drugs in this country," he said. "The conundrum is that we are forced to test drugs in situations where we only prolong life, not at the beginning of a disease where we could possibly have a better effect."
From that point of view, patients like Lopez and Hempel are actually on the front lines of research.
Hadler agreed and pointed out that just because a disease is rare, doesn't mean there isn't a way to study drugs to treat it, especially through the National Institutes of Health special programs for rare diseases and orphan drugs.
"You can still do systematic trials," he said. "It shouldn't even be held up to the same algorithm or roadmap as the much more common disease where there might be a commercial for a drug one day."
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.