When an Appleton, Wis., infant developed fatal liver disease, his family conducted and exhaustive search for a cure, and found a life-saving experimental treatment developed by Dr. Mark Puder of Boston Children's Hospital. Other babies with fatal liver disease, however, may not be so lucky because the treatment isn't currently approved by the Federal Drug Administration.
When Sam O'Connor was born in March of 2008, he was a little small, just over 5 pounds, but seemed healthy otherwise. Within days, however, he became severely ill, dehydrated and lost nearly 2 pounds, even though he was eating well.
When his frightened parents, Debra and Jason O'Connor took him to the doctor, they were urged "to just put him back in the car and go straight to the hospital," Jason told NBC's chief medical editor Dr. Nancy Snyderman.
It took months – and an intestinal biopsy - before doctors at the hospital in Milwaukee figured out Sam had inherited an extremely rare genetic condition called Microvillus Inclusion Disease. Children born with the disease can't absorb fluid and nutrients normally; the only treatment is a food substitute called total parenteral nutrition, or TPN, injected directly into the veins.
While TPN keeps kids hydrated and fed, long-term use can cause liver damage. That's what happened to Sam. The TPN that was keeping him alive was destroying his liver – and killing him.
As the boy's condition deteriorated, doctors told the O'Connors that "there was nothing more they could do," Jason said. "We should take him home. We should make him comfortable and enjoy whatever time we would have. They said he would never live to be 2 years old," Jason added.
Through an exhaustive search, the couple discovered an experimental treatment for liver damage from TPN used by a doctor at Boston Children's Hospital.
The potentially life-saving medication Omegaven, an intravenous mixture made with fish oil, reduces the fatal fat accumulation in children's livers caused by TPN. Fish oil contains anti-inflammatory omega-3 fatty acids, which have been shown to prevent fat buildup.
It is unclear when or whether Omegaven will be approved. The normal FDA process for approval is to test medications in large trials that randomly assign patients to receive either the new drug or a placebo. In fatal illnesses, that can present doctors with a tough ethical quandary: Do you do the science right and potentially lose some patients or just keep treating patients in research studies
Not daunted by the lack of FDA approval, Sam's family signed him up for a Boston Children's Hospital research study looking at the new medication's efficacy.
It didn't take long to see results.
"For me, it was . . . the personality change," Debra said. "To have him start responding to me and playing, it's just like he's actually a person again. You know, it's almost like his life started at that point because before it was just enduring."
Now 5, Sam is one of the lucky ones because he was able to get the drug he needed. Other children aren't so lucky, says Puder, who developed the Omegaven treatment after watching up to four children die from liver failure each year at his hospital alone.
Without FDA approval, Omegaven is available only to those who can come to Boston to take the drug in a research protocol, or at another hospital with special dispensation from the FDA, a provision called "compassionate use."
Knowing that the babies who need Omegaven could die without it, Puder refuses to conduct an FDA trial.
"The problem with the randomized, controlled trial is they say to take 50 babies all with this liver disease and treat only half of them, when I know what our results are." Puder said. "And, honestly, telling a mother to do that for science is, to me, unacceptable."
"It's beautiful science," Puder said, but, he added, "it's bad medicine."
The FDA wouldn't talk to NBC News because the agency is not allowed to discuss any drug applications for approval. But Dr. Timothy Cote, former director of the FDA's division for drugs that treat rare or so-called orphan diseases, explained the FDA's policies in general.
"They want to see real data," Cote told Snyderman. "They don't want to hear your belief. They don't want to hear how you feel about the drug. They want to see facts."
Cote says this is a process for patients who will die without a medication. It's called "compassionate use," and requires doctors to get special approval from the FDA on behalf of their patients.
"That's exactly what compassionate use is for," Cote said. "When you have a fatal disease and you think something might work. We're not having babies die because the FDA won't let the drug to, OK?"
Compassionate use is how Puder and doctors at some other hospitals, such as Texas Children's, are providing Omegaven for sick babies. But doctors argue that the application process is difficult and wastes precious time.
"The problem with this disease is it's so rapidly progressive that you may lose the time to be able to rescue them," Puder said. "So, if their liver disease is bad at two months, and then it's at four months now, now you've hit a point where there's a point of no return."
And even if a child gets approval for Omegaven and is doing well on it, there can be problems continuing the treatment because it's illegal to ship non-FDA approved medications across state lines.
For the O'Connors, that's meant traveling to Boston every eight weeks to get Sam a checkup and to pick up the next two month's supply of the drug. It's an expense the family can ill afford. They've had to borrow money, raise funds, and rely on the kindness of people in their community.
Jason O'Connor's message to the FDA: "I would like some real answers on why this process takes so long."
In the meantime, Puder continues to submit his data to the FDA in the hope that the agency will approve Omegaven so it can become more readily available.