The Government Shutdown

10.12.13

The Shutdown’s Human Cost: A Family’s Hopes at NIH Put on Hold

One mom’s all-out fight for an experimental gene therapy to save her child was about to reach a critical government approval. Now, it’s an agonizing wait. By Michael Daly.

Until the government shutdown, it seemed nothing could block an upstate New York woman’s five-year struggle to give her daughter a fighting chance to survive an exceedingly rare and presently incurable illness.

“They call us fighting moms,” says the mother, Lori Sames.

Back in 2008 when her 4-year-old daughter, Hannah, was first diagnosed with giant axonal neuropathy, the doctors said that it was essentially a death sentence. The genetic disorder that was initially manifesting itself as a difficulty in walking could be expected to extend through Hannah’s central nervous system to where she would be left a paraplegic, dependent on a feeding tube and a respirator, but conscious and excruciatingly aware until the inexorable end.

There was said to be no treatment at all.

“Nothing,” Lori recalls.

Others might have simply despaired.

“We picked ourselves up off the ground, literally,” Lori says. “We decided to fight.”

The struggle began at their kitchen table and had a single goal.

“Saving Hannah,” Lori says.

Lori and her husband, Matt, read all the medical literature they could find and made endless phone calls and managed to assemble 22 researchers in Boston. The one certainty was that a search for a cure was going to be expensive. And applying for research grants and awaiting government funding cycles could take more time than they had, with no guarantee of actually getting the backing.

“We knew we had to fund this grassroots,” Lori says.

She and her husband set about raising money every way they could imagine.

“Lemonade stands, bottle drives, golf events, formal galas, Texas hold’em tournaments,” she says.

With help of two matching grants, Hannah’s Hope Fund raised an astonishing $6 million over five years. The researchers devised an experimental treatment whereby gene therapy would be administered directly into the central nervous system. They tested its safety and were ready for a clinical trial that would include others who had been stricken by GAN.

“A lot of hard work with amazing people helping us,” Lori says.

Hannah, now 9, recognized that there was a particular intensity to her fighting mom. She was with Lori this summer when she suddenly blurted out, “Mom, if I die don’t let Daddy blame you.”

“Oh, Hannah, what?” Lori asked.

“There’s a lot of people working, but it’s mostly you and if I die, you can’t let Daddy blame you,” Hannah replied.

More amazing people welcomed them when they sought out the National Institutes of Health to administer and evaluate the treatment. Hannah’s team passed the first hurdle in June, securing approval from the NIH Recombinant DNA Advisory Committee.

The next step was to pass the NIH Scientific Review Group, which meets once a month. The proposal was slated for consideration on October 25. The team could then hope to move on to an actual clinical trial.

After five years, it seemed like the fighting mom had done it. Hannah and the others with GAN would have at least a chance where there had been no chance at all.

“Any child on this earth with GAN,” Lori says.

Then came the government shutdown. The preparatory paperwork at NIH had to be put on hold, which meant that the GAN trial could not be considered by the review group on October 25, even if the shutdown ended before then. Lori figured that things would be delayed at least eight weeks.

“Eight weeks in the life of a child with GAN is huge,” Lori says. “That could be the difference between needing a gastric tube or not or needing a wheelchair or not.”

As it was, Hannah’s symptoms were becoming more pronounced.

The preparatory paperwork at NIH had to be put on hold, which meant the GAN trial could not be considered by the review group on October 25, even if the shutdown ended before then.

“She can walk, but very weakly, with a walker,” Lori says. “We don’t know how long she will be ambulatory.”

Lori adds, “Her vocal cords are starting to become paralyzed. Her hands are numb. She has problems swallowing. Time is very critical.”

As with other GAN kids, numbness is accompanied by an unusual sensitivity.

“Warm water burns like scalding hot to them,” Lori says.

And there is a corresponding emotional sensitivity.

“Hannah and other GAN kids cry when they see dog-adoption commercial on TV,” Lori says, “They are amazing, caring kids and everybody falls in love with them.”

And despite her health troubles, nobody gets more joy out of being alive than does Hannah.

“She loves to be outdoors,” Lori says, “She loves to swim and to ride her adaptive bike.”

Hannah is what Lori calls “a social butterfly,” delighting in her buddies, telling her mother each morning when they part outside school, “Make a new friend.” Lori responds by saying, “Make somebody smile,” which Hannah invariably does.

As they wait, Lori has great sympathy for the extraordinary dedicated people at NIH whose life-saving labors have been put on hold by the shutdown.

“They know how important their work is,” Lori says. “It must be very hard sitting at home. “

The scandal over the suspended death benefits for the families of fallen service members was remedied with checks from a charity. There remains a scandal over sick children whose chance for a cure and for life is being delayed another possibly critical minute every minute the shutdown continues.

“We’re ready to start a trial,” says the fighting mom.