Better care for children with rare diseases

Diabetes, high blood pressure, back problems: They are considered common diseases, and the first port of call is usually the family doctor. But what happens when a child is affected by a so-called rare disease - i.e. a disease that affects no more than five in 10,000 people, for which little research has been done and for which there are only limited treatment options? For affected families, this often means years of searching, changing responsibilities and a high level of stress in everyday life.

Around four million people in Germany live with a rare disease, and more than 6,000 different clinical pictures are known. Children, adolescents and young adults are also affected. Special questions arise for them - not only about medical treatment, but also about the coordination of care, psychosocial support and long-term prospects.

A new, coordinated care model for young patients

The B(e) NAMSE project, which is funded by the Innovation Fund, aims to improve the care of these young patients in a tangible and sustainable way. Under the leadership of Prof. Dr Boris Zernikow (Vestische Kinder- und Jugendklinik Datteln / Witten/Herdecke University) and Prof. Dr Corinna Grasemann, five university hospitals with centres for rare diseases in Augsburg, Bochum/Datteln, Dresden, Mainz and Würzburg are testing new approaches to outpatient care.

The aim is to provide a needs-based, coordinated and family-orientated form of care. Key elements include multidisciplinary case management, regular case conferences, close personal and telemedical support and a holistic training concept for patients and their families. The structured transition from paediatric and adolescent medicine to adult medicine is also an important component.

"A rare disease often means that patients have to visit many different points of contact - with all the frictional losses that entails," explains project manager Boris Zernikow. "Our aim is to better bundle these processes, bring experts together digitally and plan care together with families in advance."

Start of implementation: scientifically monitored and widely supported

One year after the start of the project, the conceptual work has been completed and the new care structure is now being implemented. The entire project group - consisting of care providers, patient representatives, health insurance companies and scientists - met in Mainz to coordinate the final organisational steps and ensure uniform implementation at all locations.

The new processes are being scientifically supported by the Chair of Institutional Economics and Health Policy at UW/H and PedScience Vestische Forschungs-gmbH. They are investigating whether and how the quality of care improves, how families and carers experience the new structure and what costs are incurred.

The project is being funded by the Innovation Committee of the Federal Joint Committee with around 9 million euros over a period of 3.5 years. Project partners include several statutory health insurance companies, the University Medical Centre Hamburg-Eppendorf and the Alliance for Chronic Rare Diseases (ACHSE), which contributes the perspective of patients.

Further information:

B(e) NAMSE.

The project name B(e) NAMSE contains three elements. The designation "B", the English word "be" and the designation NAMSE for the National Action Alliance for People with Rare Diseases. NAMSE is a coordination and communication body with the aim of improving patient care for people with rare diseases. NAMSE is an alliance between the Federal Ministry of Health (BMG), the Federal Ministry of Education and Research (BMBF) and ACHSE e.V. (Alliance of Chronic Rare Diseases) with 25 alliance partners. NAMSE pools existing initiatives, networks researchers and doctors and brings together information. Since 2014, the care of rare diseases has been based on a three-stage centre model. The implementation of the NAMSE type A centres in standard care, including certification and funding, is well underway. The possible multi-professional working method of the NAMSE type B centres is being tested and scientifically evaluated in the "be namse" (B(e) NAMSE) project.