Nic Volker. Beatrice Rienhoff. Alexis and Noah Beery.
If you happen to be a scientist or clinician in the genomics field, you already know the topic of this article just from those four names. Each is a child who suffered from a mysterious or even one-of-a-kind disease. Collectively, they endured years in hospitals, met dozens of doctors, took countless tests to achieve that precious objective: a diagnosis. And for each of these kids, DNA sequencing was critical to providing that answer.
Thanks to this insightful article just out in The New Yorker, we can add two more names to that list: Bertrand Might and Grace Wilsey. Both of these kids were born with debilitating diseases and spent years careering from one doctor to the next, awaiting some kind of verdict. The quests are so common that we have a term for it: the diagnostic odyssey.
These kids—from Nic Volker through to Grace Wilsey—lucked out. They got the diagnosis they needed, which will help their parents better navigate the challenges of treatment options and, in some cases, anticipate disease progression. Still, what we learn from these new stories of Bertrand Might and Grace Wilsey is sobering. The truth is, if you’re a child with a vanishingly rare disease, your only real shot at the diagnosis brass ring is to choose parents who are wealthy or well-connected (preferably both). The financial, medical, and scientific resources tapped by these families as they search for what’s wrong with their kids are not available to most people.
There are rare diseases, and there are rare diseases. Even for diseases affecting just a few thousand people, there are foundations and occasional public funding. What we’re hearing about now, these Rienhoff and Might and Volker stories, are diseases where each kid is the first ever known to have had that disease. Eventually, the new disease will be fully characterized and other patients will be found who also have it (The New Yorker article covers this angle nicely). As that happens, a miniature community will form, and these people will be able to start support groups, foundations, and clinical trials. But when a disease is originally classified, none of that exists. These first-diagnosed kids are medical marvels, the beginning of a whole new lineage.
Which is why their names, at least within the biomedical community, have become famous. These stories resonate not just because of the components of any good narrative—the seemingly hopeless quest, the passionate parents, the young protagonists, the plot twists and turns—but because they represent the earliest clinical successes of genome sequencing. They are living proof that this field can make a difference; that zooming down to the DNA level really can tell us what’s wrong when medicine doesn’t have a ready answer.
These are themes we’ve covered in Techonomy articles and at our first Techonomy Bio conference in June. DNA diagnosis is exciting and full of potential, but in the near term it may be a story of gross inequality about how these miracles are doled out. It’s a trend we will continue to report on as more of these compelling stories emerge.