🔄FROM THE ARCHIVE: Millions of Americans suffer from ailments without a name. That's where the Undiagnosed Diseases Network comes in.
This article appeared in the July/August 2021 issue ofElizabeth wouldn’t walk or talk as a toddler. Laura’s hair fell out, and rashes attacked her skin. Angela’s left leg was so swollen it hurt to stand. Emma needed a breathing machine just to sleep. Their suffering may take different forms, but their stories share a common thread: Neither they or their families knew what was actually causing these issues.
“It changed everything,” says Mari Hanada, whose daughter is a UDN patient. “Suddenly I had a direction; I knew which way to go.” For many patients, the UDN offers something less tangible, too. Living with a disease without a name can be its own kind of suffering. “You grow up feeling like, ‘I’m in this, crazy, all by myself, and no one really understands me,’ ” says Angela Moon, a UDN participant. For patients like her, the UDN offers hope — for treatment, but also for finally being seen.For decades, Angela Moon dealt with her baffling condition in silence.
The possibility of further treatment is giving Angela a sense of optimism that’s largely been missing for more than four decades of her life, she says. And it’s letting her focus on the future, too. An archaeology buff, she imagines one day working at a museum doing project management.Like others who have worked with the UDN, Angela also anticipates her struggles could help ease the pain of others in the future.
Fortunately for Elizabeth, MTOR has been researched extensively because it’s also involved with tumor growth. That knowledge led doctors to a diagnosis for Elizabeth — and an already-existing treatment. In 2017, their search led them to the Rare Genomes Project at the Broad Institute of MIT and Harvard, and the UDN shortly afterwards. Both organizations began sequencing Emma’s entire genome, as well as her RNA. And, as it turns out, both groups soon found the same thing: a mutation to the CHD2 gene. Irregularities in this gene are often associated with epilepsy, but Emma’s symptoms were far worse.
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