Finding answers for patients with rarest of rare diseases - WAAYTV.com - Huntsville, Alabama - News Weather, Sports |

Finding answers for patients with rarest of rare diseases

Posted: Updated:
(Kilquist Family via AP). In this Dec. 10, 2017 photo provided by the family, Jon and Kari Kilquist sit with their children, from left, Will, Emmy and Owen at their home in Murphysboro, Ill. Will was born with a long list of mysterious symptoms that re... (Kilquist Family via AP). In this Dec. 10, 2017 photo provided by the family, Jon and Kari Kilquist sit with their children, from left, Will, Emmy and Owen at their home in Murphysboro, Ill. Will was born with a long list of mysterious symptoms that re...
  • NationalMore>>

  • Parson resigning from CBS board for health reasons

    Parson resigning from CBS board for health reasons

    Sunday, October 21 2018 8:34 PM EDT2018-10-22 00:34:00 GMT
    Monday, October 22 2018 3:38 AM EDT2018-10-22 07:38:27 GMT
    Richard Parsons resigning from CBS Corp. board of directors; Zelnick named new interim chairman.
    Richard Parsons resigning from CBS Corp. board of directors; Zelnick named new interim chairman.
  • US temporarily stops youth climate lawsuit days before trial

    US temporarily stops youth climate lawsuit days before trial

    Friday, October 19 2018 5:10 PM EDT2018-10-19 21:10:03 GMT
    Monday, October 22 2018 3:42 AM EDT2018-10-22 07:42:27 GMT
    The U.S. government is trying once again to block a major climate change lawsuit days before young activists are set to argue at trial that the government has violated their constitutional rights by failing to take...
    The U.S. government is trying once again to block a major climate change lawsuit days before young activists are set to argue at trial that the government has violated their constitutional rights by failing to take action climate change.
  • Breaching dams to save Northwest orcas is contentious issue

    Breaching dams to save Northwest orcas is contentious issue

    Thursday, October 18 2018 6:18 PM EDT2018-10-18 22:18:57 GMT
    Monday, October 22 2018 3:42 AM EDT2018-10-22 07:42:23 GMT
    (AP Photo/Ted S. Warren). In this Oct. 17, 2018 photo, supporters of dam removals and other measures intended to help endangered orca whales stand near a giant inflatable orca outside a building in Tacoma, Wash., where the Southern Resident Killer Whal...(AP Photo/Ted S. Warren). In this Oct. 17, 2018 photo, supporters of dam removals and other measures intended to help endangered orca whales stand near a giant inflatable orca outside a building in Tacoma, Wash., where the Southern Resident Killer Whal...
    Calls to breach four hydroelectric dams in Washington state have grown louder in recent months as the plight of critically endangered Northwest orcas has captured global attention.
    Calls to breach four hydroelectric dams in Washington state have grown louder in recent months as the plight of critically endangered Northwest orcas has captured global attention.

By LAURAN NEERGAARD
AP Medical Writer

WASHINGTON (AP) - The youngster's mysterious symptoms stumped every expert his parents consulted: No diagnosis explained why he couldn't sit up on his own, or why he'd frequently choke, or his neurologic and intestinal abnormalities.

Then they turned to a new national network that aims to diagnose the rarest of rare diseases - and learned Will Kilquist is the only person known in the world, so far, to harbor one particular genetic mutation that triggered all those health problems.

"It kind of put me at peace with myself, knowing there is absolutely nothing I could have done to prevent this," said Kari Kilquist of Murphysboro, Illinois, Will's mother.

The Undiagnosed Diseases Network , set up by the National Institutes of Health, turns scientists into detectives to attack medicine's cold cases - the patients left in diagnostic limbo because their symptoms didn't match any known diseases. The idea: Offer them access to cutting-edge research, at no cost, in hopes that uncovering unique ailments 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 deemed most likely to benefit, researchers reported in the New England Journal of Medicine.

Scientists came up with a diagnosis for about 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 number has nearly doubled and more mysteries have been solved. Last month, the NIH added five more hospitals to the network.

Even those who didn't get a diagnosis at first "say we have hope just knowing there are people looking at our case still and we're not forgotten," said Dr. Euan Ashley of Stanford University, one of the network sites.

Diagnosis doesn't mean doctors automatically know how to help. 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 could cut tens of thousands of dollars from the typical patient's diagnostic odyssey.

In Illinois, Kari Kilquist didn't 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 was examined at the NIH Clinical Center - the Bethesda, Maryland, hospital that first tackled undiagnosed diseases and expanded the research into a network. Doctors found problems others had missed: Will produces no saliva, the reason his airways frequently clog, and doesn't sweat. The clues pointed to a gene defect that affects how the body transports crucial nutrients across cells, explaining Will's developmental problems.

Now Kilquist wonders if, "Maybe Will could someday help another family learn more about their child."

___

The Associated Press Health & Science Department receives support from the Howard Hughes Medical Institute's Department of Science Education. The AP is solely responsible for all content.

Copyright 2018 The Associated Press. All rights reserved. This material may not be published, broadcast, rewritten or redistributed.

Powered by Frankly
All content © Copyright 2000 - 2018 WAAY. All Rights Reserved.
For more information on this site, please read our Privacy Policy, and Terms of Service, and Ad Choices.