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WASHINGTON – The youngster's mysterious symptoms stumped every day his expert, or why he was often choke, or his neurologic and intestinal abnormalities.
Then they turn to a new national network that aims to diagnose the rarest of rare diseases – and learned Will Kilquist is the only known person in the world, so far, to one particular genetic mutation that triggered all those health problems.
"Said Kari Kilquist of Murphysboro, Ill., Will's mother.
The Undiagnosed Diseases Network, set up by the National Institutes of Health, turns out to be the only way to detect or treat limbo because of their symptoms. The idea: Offer them access to cutting-edge research, at no cost, in hopes that unique uncovering would improve overall medical knowledge.
Wednesday, the network published a snapshot of its early findings that highlight the desperate demand for help.
More than 1,500 people applied for an evaluation between 2015 and 2017 at the network's initial seven patient sites. Just 601 in that first group were accepted, those reported most likely to benefit, the New England Journal of Medicine.
Scientists came up with a diagnosis for a third, 132 of the first 382 patients to complete their evaluations. And 31 of those diagnoses were never-before-known syndromes, according to the report.
Scientists hope to improve that diagnosis rate as more patients enter the program. Already, the application has been doubled and more mysteries have been solved. Last month, the NIH added five more hospitals to the network.
Even those who are not getting a diagnosis at first are "we are still looking at our case still and we're not forgotten," said Dr. Euan Ashley of Stanford University, one of the network sites.
Diagnosis does not mean doctors automatically. One in 5 had a specific therapy recommended. Ashley said other families were able to cancel expensive follow-up testing; he calculated the network approach from the typical patient's diagnostic odyssey.
In Illinois, Kari Kilquist did not expect Will's treatment to change. He needs a wheelchair and feeding tube. He's a happy child, about to turn 7, who spends his days in therapy and watching Sesame Street. Still his mother jumped at one last chance for diagnosis, and perhaps a way to learn what to expect as Will grows.
Will be reviewed at the NIH Clinical Center – the Bethesda, Maryland, hospital that first tackled undiagnosed diseases and expanded research into a network. Doctors found problems others had missed: Will produce no saliva, the reason his airways frequently clog, and does not sweat. The clues pointed to a defect that affects the body transport crucial nutrients across cells, explaining Will's developmental problems.
Now Kilquist wonders if, "Maybe they could someday help one another learn more about their child."
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