The odyssey of the undiagnosed.
I feel very lucky that my children were all born with no major health issues. As I read this article my heart ached for the parents mentioned in the article whose child (children) were not so lucky.
"Undiagnosed Diseases Network, is a research initiative created by the National Institutes of Health in 2014 in conjunction with six clinical sites at academic medical centers, including Stanford. The UDN accepted its first patients—adults as well as children—in September 2015. In its first 20 months, it would evaluate 601 patients, find diagnoses for 35 percent of them and identify 31 previously unknown syndromes. In 2019, it expanded to include a dozen clinical sites, and it has now accepted 1,393 patients, evaluated 1,190 of them and made 330 diagnoses. The network works collaboratively, sharing data and resources and bringing together the best specialists from multiple institutions to take on the most challenging medical cases. It refuses no one on the basis of ability to pay. The only standard is whether the person has, according to the website, a condition that includes at least one objective medical finding—a detectable biological anomaly—and “that remains undiagnosed despite thorough evaluation.”"
"THE HEAD OF PEDIATRICS AT STANFORD’S CENTER FOR UNDIAGNOSED DISEASES is associate professor Jon Bernstein, MD ’03, PhD ’03, a pediatric medical geneticist who chose his field of study because it combined the kind of challenging problem solving he found satisfying with a lifelong love of working with children."
"Through the UDN, Bernstein has access to far more diagnostic tools—and more freedom to use them—than he has in a standard clinic, where patients are generally limited to services included in their health plans. Whereas research scientists use techniques under development—such as whole-genome sequencing and RNA sequencing—few clinicians have access to those services and few health plans cover them until the techniques become sufficiently mainstream that their costs decrease."
There are some fascinating case studies in the article as well as details about how the medical detectives go about tracking down whatever is causing the problem.