Once a year, Crystal and Jonathan Bedford drive 1,000 miles from their home in Texas to rural Alabama, their three children in tow. Beside a wooded lake, they huddle with other families whose children have the same extremely rare genetic disorder that their 5-year-old daughter, Marley, has.
The disease, rhizomelic chondrodysplasia punctata, is a painful form of dwarfism, usually accompanied by severe intellectual disability and respiratory problems. There is no cure, and children with RCDP, as it is known, rarely survive into adolescence.
The families come for advice on how to care for their fragile children, and for any scrap of information about promising research. Most years they leave with little more than warm support. But this year was different.
A biotech executive from Canada had come to discuss a potential treatment being developed by his company and the possibility that the children could be part of a clinical trial next year. It seemed too good to be true.
“You don’t want to get your hopes up because — what if? What if it doesn’t happen? What if it doesn’t work out?” said Hannah Peters, whose 16-month-old son, Jude, has the disease. “But it was the only bit of hope that we had received since Jude was born.”
Such is life for parents whose children have rare diseases. They struggle to understand and manage their child’s condition — or even to find doctors who can — and can face steep expenses, even with insurance. And while the pharmaceutical industry has become far more interested than it used to be in identifying and testing potential treatments for minute patient populations, many remain neglected.
RCDP is among the rarest of rare diseases; experts guess there are perhaps 100 cases worldwide. But for this support group, there had been a fortunate confluence of circumstances. A dedicated scientist in Montreal, Dr. Nancy Braverman, who had spent decades studying the disorder, had persuaded the Canadian biotech company’s president to take an interest in RCDP, and to meet the families in Alabama.
The company, Phenomenome Discoveries, had developed a set of compounds that might restore a crucial missing ingredient in the bodies of children with RCDP: plasmalogens, a type of fatty acid found in cell membranes. The company had become interested in plasmalogen levels because some evidence suggested they were also low in people with Alzheimer’s disease.
No one was depicting the compounds developed by Phenomenome Discoveries, synthetic plasmalogen precursors, as a cure for RCDP. But if they could raise plasmalogen levels in the blood and lungs of children with the disorder, as they had in laboratory mice, Dr. Braverman believed they might at least improve the children’s respiratory function, possibly extending their lives.
“For us, getting another month with your child or another year or another five years — that’s kind of everything,” Ms. Bedford said.
Answers were still a long way off, and a number of hurdles remained before a clinical trial could begin. Still, as the parents prepared to meet with Dayan Goodenowe, the president and chief executive of Phenomenome Discoveries, they overflowed with questions.
What if the trial could not recruit enough subjects, considering how few and far between children with RCDP were? What if the company could not raise enough money to conduct it? And worst of all, what if the experimental treatment did not work?
“Is this really real?” Ms. Bedford, who runs a frozen yogurt shop, Sweet Marley’s, with her husband in Fredericksburg, Tex. “What, really, are our chances?”
Drawn to a Doctor
To the families who gathered in Alabama in June, Dr. Braverman was something between a beloved aunt and a rock star. She identified the gene mutation that causes RCDP almost two decades ago, and has devoted her career to studying the disease and related disorders. As a physician, she also gets out of her lab to see patients and family support groups.