No time to lose: Finding rare diseases in infants
Wisconsin doesn't screen newborns for some disorders other states include, which can delay treatment that could prevent death or disability.
As parents urge state officials to expand the program to catch more ailments early, doctors are increasingly turning to genome sequencing to diagnose some critical conditions.
(14) updates to this series since Updated
Wisconsin doesn't test for Krabbe and Pompe diseases, deadly but treatable disorders detected in many other states.
Tardy tests can delay essential treatment, as a New London family learned.
Lawsuits over medical privacy in Minnesota and Texas forced those states to destroy millions of stored samples.
Other states say they test for more conditions, but a Wisconsin lab director said it isn't "a counting game."
Jenna and Kyle Heckendorf lost their son, Bryce, to Krabbe disease seven years ago when he was 18 months old
Atlas Faucher, 5, was diagnosed with Pompe disease at 4 months old
Jeremy Thoms, 21, has Krabbe disease and received a stem cell transplant at 4 weeks old
Wisconsin and most states test newborns for spinal muscular atrophy. But 12 don't, despite the need for prompt treatment.
The state started testing babies for severe combined immunodeficiency disorder in 2008.Â
Adults with spinal muscular atrophy can take two of three treatments, approved within the past five years.
Amy and Adan Medina’s children, Mateo, 10, Javier, 5, and Amelia, 3, were all born with SMA or spinal muscular atrophy
For the Gutzdorfs of Watertown, the situation for their son "was very much life or death."
At University Research Park, San Diego-based Illumina makes enzymes used in its DNA sequencers.
Rikki and Joshua Gutzdorf’s son, Theo, 3, was born with Stuve-Wiedemann syndrome that was diagnosed three weeks after birth through genome seq…
Passersby saved Ross Kopfer and his 11-year-old son from their burning truck after a multi-vehicle collision two years ago. Now the former strangers share a strong bond.
Passersby saved Ross Kopfer and his 11-year-old son from their burning truck after a multi-vehicle collision two years ago. Now the former strangers share a strong bond.
The death rate in Wisconsin, which had fallen from an 8-year high in 2018, went from 847 per 100,000 male residents to 989 per 100,000 in 2020. For women, that rate jumped from 611 to 697.
The nurse told colleagues she wanted to display the foot at her family's taxidermy shop with a sign that said: "Wear your boots kids," prosecutors said.
Madelene Odor, 4, born without a thymus and treated at UW Health, is at Duke University while her dad worries about how to pay the bills.
In collaboration with UnityPoint Health-Meriter, UW Health started doing fetal surgery in March.Â
The Bay at Belmont in Madison had the most violations in the state, while Belmont, Middleton Village and Waunakee Manor are on a federal list of poor-performing facilities.
New drugs for the lung disease are allowing people to live much longer with the condition, which historically was often fatal in childhood.
