Sydney Rutz is one of a kind. Literally.
When Oklahoma Medical Research Foundation scientists sequenced the genes of this Yukon teenager, they discovered that she had a mutation that had never before been discovered. Unfortunately, this unique genetic alteration has already caused all sorts of issues for Sydney in her short life.
She’s had cataracts in both eyes. Her skeleton has developed abnormally; her chest protrudes, her hips are compressed and she wears a back brace to counter the curvature of her spine. At school, she walks when she can, but pain sometimes forces her to use a wheelchair.
Sydney’s bones lack density and are prone to breakage. At age 13, she stands 3 feet 11 inches tall. She likely won’t grow any more.
As is increasingly the case these days, OMRF researchers succeeded at pinpointing the root cause of her problems. But right now, there’s still a yawning gap between diagnoses and treatments.
Especially in the realm of rare diseases, science has become quite good at telling patients what’s wrong with them. However, we haven’t moved as fast on the therapeutic side. In many cases, we don’t yet know how to solve the problems we’ve identified.
This issue is compounded by the small number of patients whose lives stand to be impacted by a new medication to treat a rare condition.
Drug companies and funding agencies are willing to devote significant resources in the quest to develop medications for conditions like Alzheimer’s and cancer, which strike millions of people.
But what happens when the disease you’re targeting has only a few thousand victims? Or, in the most extreme case — Sydney’s — one?
Congress recognized this problem and passed the Orphan Drug Act of 1983. That law provides government subsidies for clinical trials as well as tax incentives and market exclusivity to companies that develop treatments for rare diseases.
These incentives have worked pretty well, particularly for some of the more “common” rare diseases. Of 59 new drugs approved in 2018, 34 were for rare diseases, which the government defines as a condition affecting fewer than 200,000 Americans.
Unfortunately, the law has also spawned some unintended consequences.