Optimized care in Patients with Rare Diseases: TSC at the Center for Rare Diseases (ZSEUKS) at Saarland University Medical Center, Germany

Abstract

Providing comprehensive medical care for patients with rare diseases is both challenging and rewarding. We will give a short summary of the most relevant medical issues pertinent to this subject, and will illustrate some of these issues by sharing our experience in the care of patients with TSC disease.

Zusammenfassung

Die Behandlung von Kindern/Patienten mit seltenen Erkrankungen stellt einerseits an das Behandlungsteam große Herausforderungen, ist andererseits aber auch eine sehr bereichernde Erfahrung. Im Rahmen dieser gestrafften Übersichtsarbeit werden wir einige relevante medizinische Aspekte in der Behandlung dieser Patientenkohorten ansprechen und einzelne Gesichtspunkte dieser Problematik am Beispiel der TSC-Erkrankung veranschaulichen.

Key words

expert centers for rare diseases - transitional medicine - multidisciplinary care - tuberous sclerosis complex (TSC) - secondary care centers - national action plan for patients with rare diseases (NAMSE)

Schlüsselwörter

Zentren für Seltene Erkrankungen - Transition zur Erwachsenenmedizin - multidisziplinäre Versorgung - Tuberöse-Sklerose-Komplex (TSC) - Versorgungszentren - Nationaler Aktionsplan für Menschen mit seltenen Erkrankungen (NAMSE)

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