Name: Families struggle with children’s rare diseases
Uploaded: 2025-12-03T20:21:15.083Z
Duration: 3 min 4 s
Description: Around four million people in Germany suffer from a rare disease. The Heidelberg Polyclinic is an expert in this field, enabling it to offer comprehensive assistance to affected families.

Around four million people in Germany suffer from a rare disease. The Heidelberg Polyclinic is an expert in this field, enabling it to offer comprehensive assistance to affected families.

Heidelberg

Children with rare diseases, such as DUP-15-Q syndrome, often face delayed diagnoses and limited treatment options. In Heidelberg, Germany, a specialized competence network and self-help association have been established to support affected families and improve care. 

Genome sequencing is used to diagnose these conditions, but while the costs of diagnosis are generally manageable, many treatments are not covered by health insurance. The network currently supports over 40 families and has inspired broader European collaboration, offering much-needed community and expertise for those affected.

Families struggle with children’s rare diseases

Timon didn't develop like many other children of his age. He didn't crawl or roll over as a baby, for example. His parents took him to the Heidelberg Polyclinic, which specializes in neurological diseases. After a year of consultations and tests, Timon was diagnosed with the rare disease DUP-15-Q. Fortunately, right from the first consultation, we had doctors sitting in front of us who were able to tell us about the disease, give us recommendations and refer us to the association. We stopped feeling lost and ignored and felt like we could tackle it. The DUP-15-Q competence network in Heidelberg is unique in the German-speaking world. It currently supports over 40 families. The network relies on genome sequencing with diagnosing rare diseases. We always say genetic material is like a huge library with over 20,000 books. The individual books represent the blueprint for the body. Large-scale genome analysis is like taking an inventory of this library. We look at all the books and read their text to see if we can find a typo that explains the symptoms. The costs to identify a rare disease are in most cases manageable, but the procedures to deal with it are often not approved by health insurance. Although, it would be a great help for the patients. Four million people in Germany suffer from rare diseases. There are 6,000 to 8,000 distinct diseases considered rare. 250 new ones are discovered every year. The DUP-15-Q self-help association pushed the Heidelberg polyclinic to create a competence center for the disease. Verena Romero founded the association after learning that her daughter Chiara, who had been suffering severe epileptic seizures, had DUP-15-Q syndrome. When I received my daughter's diagnosis, there was no information or point of contact whatsoever. It was so frustrating that no one was familiar with the severe epilepsy my daughter had. I wanted to ensure that if the epilepsy returned, there would be a point of contact and experts on the syndrome in Germany. For clinic director Maja Hempel, the association is an example of how treating rare diseases requires close coordination. As doctors and scientists, we have learned a great deal and developed projects based on this. We have also established a European network, which we definitely would not have done without this initial spark. The affected families go through extreme stress having to provide round-the-clock care. For them, the association and the competence center are like a second family.

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