When you seek medical care, you expect a diagnosis. You may need to answer a lot of questions and undergo tests, but usually doctors can figure out the root of the problem.
This is not the case for a surprisingly large group of patients. According to the National Institutes of Health (NIH), 25 million to 30 million Americans live with rare diseases that sometimes require years to diagnose.
Funded by the NIH, the Undiagnosed Diseases Network (UDN) collaborates on hard-to-diagnose conditions in patients of all ages. With 12 clinical sites, including a coordinating site at Harvard University, the UDN joins together clinicians, researchers and physician-scientists from around the country who use advanced technologies in a way that would not be possible outside of this network.
WashU Medicine, an international leader in genome sequencing, is bringing its unique strengths to the UDN, helping to solve some of today’s most challenging medical mysteries.
In search of answers
When Amy Lair gave birth to her son, James, six weeks early, he weighed in at a healthy 8 pounds. But his growth slowed as months passed.
“He just never did really take off, as far as eating or motor skills like crawling around,” said James’ father, Jason Lair. “He was 3 years old before he walked.”
“We went through a lot of referrals from different doctors, but every test we ever did was normal,” Amy added. “Everybody said, ‘Oh, he’s fine. He’s just going to be little. He’s just a slow grower.’ As parents, we knew something was definitely wrong.”
The Lairs spent countless nights Googling symptoms and possible conditions they thought might apply to James. That’s how they came upon the UDN.
By the time families like the Lairs find out about the UDN, they have been through a “diagnostic odyssey,” said Patricia Dickson, MD, head of the UDN clinical site and the Centennial Professor of Pediatrics and professor of genetics. They have often been referred to multiple specialists who evaluate each symptom independently and try to come up with a diagnosis. But this approach often fails to explain all the patient’s underlying symptoms and issues.
“The Undiagnosed Diseases Network either gives families a way to end their diagnostic odyssey because they find an answer, or because they can be satisfied that they’ve done everything that they can and there’s nothing else left,” said Dickson, who also leads the Division of Genetics and Genomic Medicine in the Department of Pediatrics. This form of closure “is an incredibly powerful gift to families that the network provides,” she said.
Every medical discovery starts somewhere.
The next one could start with you.
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