Rare diseases, by definition, affect a small number of people, from as few as one or two, up to as many as 199,999. But with more than 7,000 different ones, combined they afflict about 10% of the U.S. population. Advances in science and changes in economics have made treatments for these diseases more viable, but still a long-shot proposition, possible only for the lucky few that secure a diagnosis, stumble upon the right drug or are led by a force-of-nature parent, patient or researcher.
COVID-19 has upped the ante for many of these battles, making it harder to garner attention but also showing that tremendous and rapid medical advances are possible with enough money, patient cooperation and collaboration.
In her five-part series, “Choosing Hope,” USA TODAY national health reporter Karen Weintraub explores how scientific advances are transforming care for those with rare diseases. The work is distinguished by its mastery on two fronts: accurately explaining complicated cutting-edge medical science for a general audience and making readers care through compelling storytelling of real people grappling with unimaginable challenges.
In the first series installment, Weintraub chronicles how after decades, strides in experimental gene therapy are finally giving hope to people with rare conditions like little Alissa, who suffers from Sandhoff disease. The story beautifully captures how with that hope comes agonizing choices and harrowing uncertainty for patients and their families.
The next piece focuses on how most experimental therapies for rare diseases end in failure. The story is told through the experience of one family engaged in the effort for more than three decades to help their son Andy who has Fragile X, a condition that causes autism, intense anxiety and low IQ. Though their tenacity hasn’t resulted in a breakthrough, his parents hope their work can still improve Andy’s life – and that of others.
That story was followed by one on the diagnostic odyssey faced by so many with rare diseases to just determine what is wrong. Weintraub explored the issue through three young people, showing why a diagnosis is so important for getting help. A sidebar on how the diagnosis of two young women worlds apart offers clues that could help millions with ALS underscored the importance of diagnosing rare conditions.
Other emerging treatments for rare diseases are coming from finding new purposes for old drugs. In the next installment, Weintraub examines how repurposing existing drugs for other conditions is offering another path for families by telling the tale of doctors who used their own expertise to help themselves and others.
Finally, the last story of the series looks to the future and how pioneering work to identify rare diseases and make genetic fixes in early in life could be gamechanger. In this story, Weintraub introduces the reader to Baby Fitz and shows how the kind of early identification and gene therapy intervention that’s helped him open up a new frontier.
The series is a tour-de-force of exceptional enterprise reporting and writing. Weintraub, a veteran health and science journalist, is at the height of her powers here. That she could craft these intricate pieces while juggling demands as the paper’s lead coronavirus and COVID-19 reporter, makes this body of work even more impressive.