1. Balkan Congress for Rare Diseases
 Norwegian-Romanian (NoRo) Partnership
for Progress in Rare Diseases
 Dorica Dan – presindent RONARD
 June 26-27, Cluj -Napoca

2. SHARED AN INSPIRED VISION
IN RARE DISEASES

3. Norwegian-Romanian (NoRo) Partnership
for Progress in Rare Diseases
 Applicant : Romanian Prader Willi Association
 Partners:
 1. Romanian Prader Willi Association
 2. Romanian National Alliance for Rare Diseases
 3. Norwegian PWS Association
 4. FRAMBU – No Center for Rare Diseases
 5. Ministry of Health Romania
 6. Foundation ACASA
 7. St. Family Church Zalau
 8. City Hall Zalau/ DASC
 9. County Council Salaj/ DGASPC
 10. Medical University Timisoara
 11. Romanian Society for Medical Genetics
Additional partners

4. Project aim:
 To improve the quality of life for people affected by
rare diseases in Romania by providing equal access
to early diagnosis, quality treatment and rehabilitation
services through a comprehensive and accessible
network of facilities and resources as set forth by the
National Plan for Rare Diseases.

5. The reality of the RD
 Rare diseases are chronic, life-threatening diseases, with a
low prevalence and high levels of complexity (5 in 10000).
 In Romania, approximately 1,500,000 patients live, according to
international statistics, most diagnosed incorrectly or living
without a diagnosis.
 Patients are particularly isolated and vulnerable.
 The life expectancy is significantly reduced
 many have disabilities associated with problem behaviors and
obesity.
 These behavioral and weight issues become a source of
discrimination and reduce or destroy any educational,
professional or social opportunities.

6. Objectives :
 1. Establishing a Rare Diseases Task Force- RDTF:
 The main criteria for selecting members of this working group
will include:
a. Familiarity and knowledge of the work through the
documentation: publications, training, grants;
b. Had a contribution in creating protocols, recommendations;
shared (partnerships) expertise with other experts ;
d. Demonstrated open collaboration with organizations of
patients;

7. The role of the RDTF
 The role of the group: the evaluation of rare diseases in
Romania (patient cases, treatments available, training needs and
information) and propose actions (medical measures, educational and
social, writing materials, guides to good practice, courses, curricula, etc.)
and continuously updated knowledge of the role which the Ministry of
Health has in connection with the activity;
 Functioning: The group will meet quarterly (8 X two days meetings
per project) and will analyze situations presented by each member of the
group, each member will propose measures and will be informing the
Ministry of Health and other ministries involved in the management of rare
diseases. The maximum number of group members is 20.
 Budget: Each group member will have an allowance /meeting that
cover the costs of transportation, accommodation, meals. Also there will be
covered the costs of communication in group, conference room for
meetings, supplies, printings, publications, etc.

8. Ob. 2. New services for RD
a. A training network for specialists and staff involved in the
diagnosis, treatment and rehabilitation of people with rare
diseases.
b. Accredited online training courses (eUniversity) about
rare diseases for professionals: social workers,
psychologists, nurses, teachers, doctors, etc.
c. A Pilot Reference Center for personalized intervention for
those affected by rare diseases.

9. Ob.2. New services for rare
diseases in Romania
 a. Developing and implementing a training network
for professionals and staff involved in the diagnosis,
treatment and rehabilitation of people with rare
diseases.
 Organizing workshops, seminars, and training on specific
areas:
 Selection of a training team of trainers;
 Creating curricula on specific jobs involved in RD, ex:
genetic councilor;
 Performing trainings;
 b. The creation of accredited online training
courses (eUniversity) about rare diseases for
professionals: social workers, psychologists, nurses,
teachers, doctors, etc.
 Creating curricula for specific training themes;
 Purchasing the necessary soft to perform this trainings;
 Authorization/ accreditation the trainings;
 Organizing the first training courses;

10. Training
 Improving training capacity in the country for the
prevention, diagnosis, treatment and
rehabilitation of patients with rare diseases:
Rezults:
- a network of training specialists and staff;
- accreditation / licensing of online courses (eUniversity)
(on rare diseases, for professionals: social workers, psychologists,
nurses, teachers, doctors, etc.)

11. The Pilot Reference Center for personalized
intervention for those affected by rare diseases
 3 main components + 1 external unit:
 a day center for patients with rare diseases (having
behaviors on the autistic spectrum)
 a comprehensive training program for patients, families,
caretakers and specialists involved in the management of rare
diseases (FRAMBU model)
 patients newly diagnosed and their families (to learn to
cope with new situations more easily)
The external unit:
 A weight management unit in the Rehabilitation Hospital
“ACASA” – for patients with neuromotor deficiencies.
 We will plan so that patients who come to our courses
can come before or after the period of the rehabilitation
treatment that they take part in at ACASA Hospital
 In addition, we will have a national database of patients,
along with ACASA Hospital, with various diseases and
be actively monitoring their progress.

12. Ob.3 Shared best practice network
on RD (NoRo)
 Organizing visits of the partners
 Writing the final proposal of the project based on the best
practice of the partners and the shared values and experiences
in the field of RD
 Organizing presentation of the project’s results in the PW EE
Conference (April 2009 Romania), EURORDIS membership
meeting Greece 2009, IPWSO Conference Taiwan 2010, etc.
 Permanent updating of the project results on the websites;
 Writing articles in the newsletters and RD journals to promote
the project’s results;

13. The space received from the City
Hall

14. The vision

15. The model

16. Achievements:
 Relevant partnerships established during the seed
money implementation;
 Proper facilities for the new services;
 Feasibility studies completed;
 Grant offer letter signed;
 A coordination team for the project implementation
established at the Ministry of Health;
 Official launching of the project at the 1st Eastern
European Conference on PWS organized;
 The first evaluation meeting of the potential members
of the RDTF at the conference in Timisoara;

17. Pilot Centre for Rare Diseases:
 Idea of the Centre:
 A residential part:
 To provide help for families after experience of
diagnosing a RD;
 A place to learn how to face the new situation
and to dial with the disease in their every day
life;
 A place to organize meetings and trainings of
patients;
 Support groups and counseling activities for
patients and families;

18. Pilot Centre for Rare Diseases:
 Hospitalization of the RD patients in ACASA hospital for
rehabilitation;
 Establishing a data base of patients that needs
rehabilitation program in ACASA;
 Specializing services of the center for RD patients:
weight management, individualized therapeutically
approach;
 Day care activities:
 Individualized therapeutically approach of autistic
spectrum diseases;
 Behavior intervention therapy;
 Occupational Therapy and Educational activities;
 Recreational activities;
 Support groups and counseling activities;
 Weight management

19. Main interventions of the project:
 To develop skills to approach the RD for patients, professionals and
parents;
 To maintain and improve the mental and physical capabilities of
patients through individualized therapeutically approach;
 To improve understanding and support of community;
 To create a data base of patients with RD;
 To establish protocols of assistance and care for different RD;
 To start a model network in this field through the development of a
strategic partnership: NGOs, national and international, Ministry of
Health, Local Authorities, state departments, etc;

20. Thank you!