Gutwein works to add rare, deadly disease to newborn screening panel

Posted by: Jessica Bruder  | Monday, February 18, 2019

STATEHOUSE (Feb. 18, 2019) – State Rep. Douglas Gutwein (R-Francesville) is working to save the lives of Hoosier babies through legislation adding a rare neurological disorder to Indiana’s newborn screening panel.

Krabbe is a rare genetic disease that destroys nerve cells in the brain and throughout the nervous system, and it affects 1 in 100,000 people in the United States. Symptoms can include loss of head control, muscle spasms and delays in typical developmental milestones. In most cases, symptoms of the disease develop within the first six months of a baby’s life and usually result in death by age 2.

While there is no cure for Krabbe, stem cell transplants have improved outcomes for some infants who were treated early. Gutwein said testing for Krabbe at birth is crucial because once symptoms appear, it is too late for treatment.

“Since babies born with this disease often don’t show symptoms for several months after birth, parents have no reason to believe anything is wrong when they take them home from the hospital,” Gutwein said. “By the time they begin to show symptoms, it is too late. Immediately screening them for this disease would give babies and parents a fighting chance at a better outcome.”

Gutwein said he learned of Krabbe after a news story about Bryce Clausen, an Indianapolis 1-year-old, who was diagnosed at 6 months. Clausen was not screened for this disease at birth, and because his diagnosis came after the onset of symptoms, he is ineligible for treatment options. Gutwein said legislation being considered in the Senate could prevent this situation from happening to babies and families going forward.

Under this bill, Krabbe disease would be added to Indiana’s newborn screening panel. Two similar diseases, Pompe disease and Hurler syndrome, would also be added. According to Gutwein, Indiana already tests newborns for 49 other conditions, including sickle cell anemia, cystic fibrosis, hearing loss and critical congenital heart disease.

Gutwein led a major effort last year to add spinal muscular atrophy, or SMA, and severe combined immunodeficiency, or SCID, to Indiana’s newborn screening panel. Thanks to early detection through newborn screening, Gutwein said Hoosier babies born with these conditions now have a chance at a better quality of life.

“I first learned of SMA when I met Graham Vollmer, who was diagnosed with SMA as a baby,” Gutwein said. “Doctors told Graham’s family he would not live to see the age of 2, but thanks to a new treatment, we celebrated Graham’s third birthday with a walk-a-thon last May. Miracle treatments like this are the reason we need to screen for these conditions at birth.”

Gutwein worked with State Sen. Mike Young (R-Indianapolis) to add screening for Krabbe to Senate Bill 41, which he plans to sponsor. To learn more, visit iga.in.gov.

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State Rep. Douglas Gutwein (R-Francesville) represents House District 16, which 
includes all of Pulaski County and portions of Fulton, Jasper, Newton and Starke counties.
Click 
here for a high-resolution photo.