One Reporter, Four Families, Six Scientists and the Search to Cure a Rare Disease

• By Amy Dockser Marcus

When my mother died in May 2007 from gallbladder cancer, I took a leave from my post as a health reporter at the Wall Street Journal with funding from a Robert Wood Johnson Foundation Investigator Award. Gallbladder cancer is a rare disease that affects about 7,000 people a year in the U.S., and I wanted to write about the challenges of developing drugs for rare diseases.

For the next six years, I followed a group of families and scientists trying to accelerate the development of a drug to treat Niemann-Pick Type C disease, a rare and fatal cholesterol metabolism disorder known as NPC that strikes primarily children.

The families and scientists involved with Niemann-Pick Type C wanted to create a new way of doing science. Their idea was that families and scientists each had research roles. They talked about finding an NPC treatment, as well as collaborative ways to develop drugs that could be a model.

At first, I met mainly with four families and six scientists. But the number of people connected with the story grew. I visited people at home, and spent time with siblings, grandparents, aunts and uncles. I visited research labs to watch the scientists at work. I attended fundraisers organized by families to fund their collaboration. There were annual scientific conferences they all attended year after year.

Once a week, some of the parents held a noon conference call. They talked about science and the drugs being tested on mice, but they also talked about their sick children and the stress of living with an illness that had no cure.

It wasn’t clear what their work would yield, if anything. But once some of the parents started talking about trying one of the drugs on their children, a gripping narrative began. Parents moving ahead without the blessing of scientists triggered the difficult debates in the story: How quickly can science move? How soon can experimental drugs that seem work in animals be tested in children? How to accommodate the understandable drive of parents to save their children without wrecking prospects for other families? Can amateurs and professionals really work together on science?

The advantage of reporting on a story for six years is seeing people change over time. New scientific data shifted their opinions, or the health of children deteriorated and required changing course. Eventually, a single idea propelled the story. Even when parents and scientists disagreed on strategies, timing and approach, even when feelings were hurt and people were angry, the group continued seeking a way to perform science together, holding onto the belief that their alliance offered the fastest route to finding a successful treatment.

A turning point came during a 2009 meeting at the National Institutes of Health, where scientists and some of the families gathered for a strategy session. The scientists ended up clumped together, sitting with laboratory colleagues at the table. Parents, meanwhile, sat at the outer edges of the room, some so close to the door it appeared they might spill out if it opened. One of the parents noticed and insisted on a change.

Chairs were moved around. The scientists spread out and parents filled seats between them. Tremendous challenges remained, but the new arrangement gave a shape to the emerging narrative in the months and years that followed. Finally, it seemed, everyone had a seat at the table.