An Illinois boy suspected of being the only patient in the world in which a rare disease was diagnosed

WASHINGTON – The mysterious symptoms of the young man wiped out all the experts consulted by his parents: no diagnosis explained why he could not sit by himself, or why he frequently suffocated, nor his neurological and intestinal abnormalities.

They then turned to a new national network to diagnose the rarest diseases – and learned that Will Kilquist is the only person known to date in the world to harbor a particular genetic mutation at the origin of all these diseases. health problems.

"It has somehow put me at peace with myself, knowing that I would have absolutely nothing to do to prevent that," said Kari Kilquist of Murphysboro, Illinois, mother. from Will.

The network of undiagnosed diseases, set up by the National Institutes of Health, turns scientists into detectives to attack colds in medicine – patients remained in the limbo of the diagnosis because their symptoms did not correspond to any disease known. The idea: to offer them access to cutting-edge research at no cost, in the hope that the discovery of unique diseases would improve the overall medical knowledge.

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On Wednesday, the network released a snapshot of its initial findings that highlights the desperate demand for help.

More than 1,500 people applied for an evaluation between 2015 and 2017 in the first seven sites of the network. The researchers reported in the New England Journal of Medicine that 601 people from this first group were accepted.

Scientists have established a diagnosis for about one third, 132 of the first 382 patients to complete their assessments. And 31 of these diagnoses were syndromes never known before, according to the report.

Scientists hope to improve this rate of diagnosis as more and more patients join the program. Already, the number of requests has almost doubled and more mysteries have been solved. Last month, the NIH added five more hospitals to the network.

Even those who have not been diagnosed at the beginning "say that we have hope just knowing that people are still examining our case and that we are not forgotten," said Dr. Euan Ashley from Stanford University, one of the network sites.

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Diagnosis does not mean that doctors automatically know how to help. One in five had a specific treatment recommended. Ashley said that other families have been able to cancel costly follow-up tests; He calculated that the network approach could reduce the typical patient's diagnostic odyssey by tens of thousands of dollars.

In Illinois, Kari Kilquist did not expect to see Will's treatment change. He needs a wheelchair and a feeding tube. It's a happy kid, about to be 7, who spends his days in therapy and looks at Sesame Street. Even so, her mother jumped on one last chance to get a diagnosis and maybe a way to know what to expect as Will grows up.

Will was examined at the NIH Clinical Center, Bethesda Hospital, Maryland, who first became interested in undiagnosed diseases and then extended the research to a network. The doctors found problems that others had forgotten: Will not produce saliva, which causes airway obstruction and sweating. The clues indicated a genetic defect that affects the way the body carries essential nutrients through the cells, explaining Will's developmental problems.

Kilquist now wonders if "Maybe Will could one day help another family learn more about their child."