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Ten years ago, an athletic 12-year-old from Affton, Missouri, named Mitchell Herndon began to experience muscle weakness that eventually led to him using a wheelchair. After years of visits to specialists failed to diagnose his neurological symptoms, he enrolled in a National Institutes of Health (NIH)-funded program that studies patients with debilitating mystery diseases. Researchers eventually found an explanation for Mitchell’s condition: a mutated gene that causes certain brain cells to produce an overactive protein that leads to neuron damage.
Mitchell died 3 years ago at age 19. Since then, 14 more people have been identified with the same disease, dubbed Mitchell syndrome, and his family started a foundation that hopes to develop a treatment.
His case is one of hundreds cracked by a highly regarded NIH program called the Undiagnosed Diseases Network (UDN) over the past 9 years. Now, however, funding is winding down for the network—and some including patient advocates, are scrambling to persuade Congress to restore full funding or keep at least parts of it afloat.
The UDN supports teams of clinicians, geneticists, and other experts who study patients with medical cases that have confounded their doctors and specialists. It was designed to sunset 10 years after being established in 2013, and a new NIH program to carry on its work will get less than one-third as much as its current funding. With their NIH support ending in a year, seven of the network’s 12 clinical sites are turning away new patients and focusing on current cases.
“The significant funding cut is a challenge,” says genetic counselor Kimberly LeBlanc, director of the UDN Coordinating Center at Harvard Medical School. But she and others hope federal lawmakers will restore more UDN funding in NIH’s 2023 spending bill, which is working its way through Congress.
“I want to see the UDN sites not only continue but to [also] grow and make even more discoveries and … impacts on the lives of patients and families,” Michele Herndon, Mitchell’s mother, recently wrote to a staffer for Senator Roy Blunt (R–MO). “We hope it will continue to grow.”