Legislators are working to save the lives of Hoosier babies by 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. 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. Lawmakers were inspired by Bryce Clausen, an Indianapolis 1 year old, who was diagnosed with Krabbe 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.
State Rep. Doug Gutwein from Francesville sponsored legislation that would add Krabbe disease to Indiana’s newborn screening panel. Two similar diseases, Pompe disease and Hurler syndrome, would also be added. 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 screenings, Hoosier babies born with these conditions now have a chance at a better quality of life.
To track legislation, watch committee meetings and view session live, visit the Indiana General Assembly’s website here.