When Elias is born in Bad Mergentheim in October 2021, there is nothing to suggest that anything could be wrong with the little boy. All examinations at the hospital are unremarkable and the parents are discharged with a healthy child. He charms everyone around him with his lively manner and big brown eyes. At home, his siblings are waiting for him enthusiastically.
As is customary in newborn screening, Elias' pediatrician draws some blood from his heel while he is still in the hospital in the first days of life and drips it onto the filter paper of a so-called dry blood card. The blood card is sent by mail to the laboratory in Heidelberg, where it is examined for abnormalities. Cards from Rhineland-Palatinate, Baden-Württemberg, Saarland and parts of North Rhine-Westphalia arrive there every day. In July 2021, newborn screening at Heidelberg University Hospital was expanded in a pilot phase to include two hereditary diseases: spinal muscular atrophy (SMA) and sickle cell disease. Since September 2021, both diseases have been integrated into newborn screening throughout Germany. A stroke of luck for the Wehr family, as will become apparent later.
"The aim of screening is to make the diagnosis as early as possible in order to start treatment in time. This is because, especially in the case of SMA, every day counts in order to avert irreversible damage," says Professor Dr. Georg F. Hoffmann, Director of the Center for Pediatric and Adolescent Medicine at the UKHD. He is responsible for this and other successful screening pilot projects at the Heidelberg site. These have been funded by the Dietmar Hopp Foundation for more than 20 years with around 16 million euros to date.
Elias has been at home with his parents Jessica and Martin for a week when the phone rings. The Bad Mergentheim hospital is calling the family with bad news. The blood test from the newborn screening showed that Elias suffers from SMA. A shock for the parents. "We couldn't believe at first that our son would suddenly have a fatal genetic defect. From one second to the next, a healthy child became a terminally ill child," the parents remember the day of the diagnosis.
Within three hours, they had to be in Heidelberg for the appointment with Dr. Andreas Ziegler. With a travel time of two hours from Weikersheim to Heidelberg on Friday, this was a sporting challenge. And the twins also had to be brought to grandma's house quickly. But the family manages everything and a short time later sits with Dr. Ziegler for a consultation and discusses the next steps. Dr. Ziegler is a senior physician in the Section of Neuropediatrics and Metabolic Medicine at the Center for Pediatric and Adolescent Medicine and has been conducting research in the field of spinal muscular atrophy for years.