This document summarizes discussions from a workshop on training medical doctors (MDs) about rare diseases (RDs). Key points discussed include: 1) Training MDs and medical students on RDs needs to be integrated into national plans and can help shorten diagnosis times and improve treatment. 2) Training needs to include both disease knowledge and methodology skills like interdisciplinary teamwork, communication, and accepting limitations. 3) Patient organizations have unique expertise that MDs could benefit from through continued medical education programs developed together.

1. Workshop Training, Information
and Education of MDs
EURORDIS Membership Meeting 2011
Amsterdam, Saturday, 14th of May in
University of Amsterdam 3

2. Programme
Presentations
• Feedback from the 15 National Conferences, Christel Nourissier,
Eurordis
• Training package on RD for medical students, Bernd Quadder,
German Sarcoidosis Association
• Case Study: Italian Training for MDs, Renza Galluppi, UNIAMO
• Sharing expertise: transfer of experience from patient organizations
to doctors and between PO, Rainald von Gizycki, Retina Europe
Discussion:
• How can training of MDs and medical students be integrated into
NPs,? Which NP measures will influence MDs in such a way that
the lives of people with a RD will be improved, i.e. shorten
diagnosis, better treatment, better understanding etc.?

3. Discussion
• What is missing in student and MD Training? Do we
need more knowledge on methodology or more fact
knowledge on diseases? What kind of methodology?
• Would more awareness shorten the route to diagnosis
or improve treatment? How should awareness be
improved?
• Do MDs need a better acceptance of fallibility? Do we
need a change in culture (for MDs and patients) that
the doctor cannot know it all?
• How can the medical community benefit from the
special expertise of PO?

4. Conclusions
• Methodology, knowledge of available tools (orphanet, information
centres, hotlines, existing centres of expertise and E-Health-
Networks), awareness of the uncommon and acceptance of one‘s
limitations as well as the importance of team work are the key to success
(right diagnosis and best treatment).
• Patient Organisations have unique knowledge on their disease. MD would
benefit from CME in cooperation with PO.
• Training of (para)medical specialists is necessary on different levels.
Guidelines for care are very important.
• Training should start at university and continue during professional life
(continued education)
• Key issues of training are: learn (1) how to doubt, (2) how to work
interdisciplenary, (3) not to forget the social aspects, (4) how to
communicate a diagnosis, (5) how to find the right information , i.e. the
MD has to move „from the knowledge of the disease to the knowledge of
the patient“.

5. Measures (1)
• Measures to promote information (e.g. Orphanet) and increase
awareness with the public at large and (para)medical professionals
in particular must be boosted, e.g. by campaigns and events.
• At least one 2-hour course on RD for students to enhance
awareness on the existence of RD
• Training on RD should start in university and be part of continued
medical education (CME)
• By using Orphacode and crossreferencing with ICD-10 RD should be
made more visible in health care system, also before ICD-11 is
adopted.
• PO know about patient needs and deficits in patient care. They can
contribute to improving the medical training. PO should be
(financially as well as politically ) supported to develop commmon
tools , transfer circles and disease orientated materials/lectures
etc. in order to contribute to MD Education.

6. Measures (2)
• Training quality should be systematically evaluated on the
basis of outcome indicators.
• Training should be differentiated for GPs and specialized
doctors.
• Innovative training by online lectures and the like could
contribute to better access, availability and quality of
training.
• Development/Strengthening of diagnostic tools to assist
MDs in referal process towards the right diagnosis (to be
confirmed by specialist)
• Addressing the transferral from paedetrician to GP – teach
paedetricians how to inform GPs (and also ensure that the
health care system supports this transferral)