First German Academy for Further Medical Training on Rare Diseases (FAKSE,http://www.fakse.info)

Problem

On average it will take up to seven years to be diagnosed with an orphan disease. During thistime, patients will have seen several doctors, received a large number of changing diagnoses,consulted the internet various times and will have undergone many forms of treatment. Since themajority of rare disorders affect more than one organ system, it is almost impossible for physiciansnot specialising in rare disorders or working in this area on a daily basis to diagnose an orphandisease.

Approach

The Centre for Rare Diseases Tuebingen (University Hospital Tuebingen) opened the first GermanAcademy for Further Medical Training on Rare Diseases (FAKSE) in April 2011. The goals ofthe academy are (i) educate practice-based physicians and clinicians on the matter of rare diseasesin an interdisciplinary and illustrative fashion, (ii) raise awareness for these disorders andprovide physicians with methodologies and “Red Flags” for better recognition of RD and(iii) to bring physicians in contact with relevant experts and patient organisations.

Methodology

FAKSE offers practitioners and clinicians the possibility to receive first-handinformation on orphan diseases from interdisciplinary experts. Each training course focuses on agroup of related RD such as rare storage disorders and comprises high standard video based lectures,presentation of specific ‘Red Flags’ (symptoms one should think of a rare disorder), andmeet-the-experts workshops to discuss unclear cases. Throughout its first year, FAKSEorganised four training courses and has already trained 250 physicians.

By date, training included courses on rare neurological diseases, rare storage disorders, rarefemale genital malformations, rare skin disorders, rare infantile malformations of the maxillofacialregion and rare eye disorders. In 2012, two more courses on rare auto inflammatory diseases and raretumours will be held. Further courses for 2013 are already being planned.

Since December 2011, FAKSE collaborates with Germany’s umbrella association forpatient organisations (ACHSE).