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When It's Worth It

Many families with a child with a rare disease endure diagnostic odysseys in which test after test is performed to try to figure out the cause of the disease. As KCUR's Alex Smith reports, the McWilliams family underwent such testing to understand the neuro-developmental disorder affecting their daughter.

After years of tests, Millie McWilliams underwent exome sequencing at Children's Mercy Hospital to find that she had a recently identified disease called Bainbridge Ropers Syndrome.

But as Smith notes, for some families, all the testing that is done before sequencing is tried can be expensive, running between $3,000 and more than $55,000. At Children's Mercy Hospital's Sarah Soden sought to determine how much sequencing would have to cost to be as effective as traditional tests, and she came up with $2,996, as she and her colleagues previously reported. For a family, that'd rise to about $8,000. And those are numbers that are quickly being reached, Smith says.

Even after a diagnosis, Smith adds, there may not be a treatment for the condition. But Angela McWilliams tells him that having one has enabled her family to move on.

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