1. October 25, 2006 2nd International Conference on Rare Diseases and Orphan Drugs “Patient and Family Needs across the Lifespan” October 25, 2006, Madrid Anders Olauson ÅGRENSKA, Chairman, Gothenburg HSO, Member of the Board, Gothenburg EURORDIS, Member of the Board, Paris EPF, President, Brussels Eesti Agrenska Foundation, Chairman, Estonia

2. October 25, 2006

3. HOSPITAL SCHOOL SOCIAL REGULATION FAMILY RELATIONS “The life”

4. October 25, 2006 HOSPITAL SCHOOL SOCIAL REGULATION FAMILY RELATIONS “The life” Excluded instead of Included

5. October 25, 2006 “In order to understand how it is to be a parent to a disabled child – you have to be a parent to a disabled child yourself!” “In order to understand how it is to be a parent to a disabled child – you have to be a parent to a disabled child yourself!” Åke Martinsson, Sweden

6. October 25, 2006 What is Ågrenska? Programs: Programs: –Family program –Adult program –Respite and summer service –Educations –ADHD counselor –Family support unit –Training program to get a job –Staff who has a disability –Eesti Agrenska –Agrenska Friends –Agrenska Virtual Academy The Board

7. October 25, 2006 Ågrenska is a International Centre of Knowledge Queen Silvia inaugurates “the Queen Silvia Auditorium” at Agrenska Academy in 2001.

8. October 25, 2006 Ågrenska Family Program Rare disorder Rare disorder The whole family + family related staff The whole family + family related staff Increase coping Increase coping Part of the (Re)hability process Part of the (Re)hability process 4 parallel program: 4 parallel program: – The child with the diagnose – Parents – Siblings – Family related Professionals 20 stays per year 20 stays per year From whole of Sweden From whole of Sweden More than 120 different diagnosis since the start in 1989 More than 120 different diagnosis since the start in 1989

9. October 25, 2006 Ågrenska 1990 - 2005 180 different forms of diagnoses 180 different forms of diagnoses From all part of Sweden From all part of Sweden More than 2 400 visiting families More than 2 400 visiting families More than 3 300 visiting parents More than 3 300 visiting parents More than 2 500 visiting children/ adolescents who have a rare diagnose More than 2 500 visiting children/ adolescents who have a rare diagnose Nearly 3 000 visiting siblings Nearly 3 000 visiting siblings

10. October 25, 2006 Effects – families tell: Parents feel ”normal” for the first time Parents feel ”normal” for the first time The family feel empowered, by meeting other in the same situation The family feel empowered, by meeting other in the same situation Parents get new knowledge, to take better care of their own life Parents get new knowledge, to take better care of their own life Children with the disorder meet other in the same situation Children with the disorder meet other in the same situation Siblings meet other siblings Siblings meet other siblings

11. October 25, 2006 Educational implications in RD Rare Diseases have a specific implication on all aspects of life. Rare Diseases have a specific implication on all aspects of life. Educational tools are also part of the treatment! Educational tools are also part of the treatment!

12. October 25, 2006 Methods Using a controlled and validated observations material which is approved by the University of Gothenburg Using a controlled and validated observations material which is approved by the University of Gothenburg Systematic observations of the children is performed in our school activities, during the family program Systematic observations of the children is performed in our school activities, during the family program Lectures of the syndrome to parents and the children's accompanying professionals Lectures of the syndrome to parents and the children's accompanying professionals To report back and connect to the children's local teachers at home To report back and connect to the children's local teachers at home

13. October 25, 2006 Structured observation Motor ability Motor ability Perception Perception Social behavior Social behavior Speech and communication Speech and communication Learning strategies Learning strategies Writing, reading and mathematic Writing, reading and mathematic

14. October 25, 2006 Diagnosis in our database DiagnoseN=DiagnoseN= Fragile X syndrome30Galaktosemi4 Klinefleters syndrome6Marphans syndrome11 Möbius syndrome2Neurofibromatoses11 Noonans syndrome9OI2 Prader Willie13Rubenstein Tabi8 Silver Russel6Sotos11 Sturge Weber4Tourettes syndrome20 Treacher Collins2Tuberös Scleros14 Williams syndrome17Acondroplasi12 Albinism9Angelmans syndrome12 Aperts syndrome1Aspergers syndrome33 Beckers muscheldystrofi722q11/catch 2220 CDG7Charge syndrome5 Cornelia de Lange6Crouzon syndrome7 Dystrofica Myotonika14Ehlers Danlos syndrome10 PKU/Fenylketonuri9LMBB9 Cri du Chat syndrome7Turners syndrome10

15. October 25, 2006 HDK + Ågrenska = true!

16. October 25, 2006 MasterLab The purpose of MasterLab is to create a platform where different actors can meet and; Exchange their knowledge Exchange their knowledge Create and develop new products and/or services Create and develop new products and/or services Research Research

17. October 25, 2006 Design as a force of change in society. Fight segregation Fight segregation Create accessibility Create accessibility Broadening the view of me as a person Broadening the view of me as a person Influence other areas of research e.g.; Influence other areas of research e.g.; –Architecture –Travel –Leisure time –Work

18. October 25, 2006

19. The Agrenska Virtual International Academy Virtual centre for research Virtual centre for research Stimulate further and deeper research regarding rare diseases Stimulate further and deeper research regarding rare diseases Based upon experiences from Agrenska programs Based upon experiences from Agrenska programs Holistic perspective Holistic perspective International cross boarder cooperation's International cross boarder cooperation's Scientific council Scientific council

21. October 25, 2006

22. Estland – Eesti Agrenska Tammistu

23. October 25, 2006 Conclusions The patient of the twenty-first century The patient of the twenty-first century – Difference from the past – Similarities with the past – Needs for today – Needs for tomorrow The Swedish Vikings where the first Entrepreneur and the patients are today’s