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Frambu Resource Centre for Rare Disorders  -  an orientation Kaja Giltvedt Physiotherapist Frambu
Norway Resource centers University hospitals, County doctors, 16 Resource Centres for Rare Disorders 3rd line Special educ...
Rare Disorders in Norway <ul><li>Rare disorders in the Norwegian context are defined as having a prevalence of 1 pr. 10 00...
Frambu,Norway <ul><li>In-house family courses </li></ul><ul><li>Outreach activities in users local community </li></ul><ul...
Diagnoses <ul><li>•  Angelman syndrome  </li></ul><ul><li>•  Ataxia Telangiectasia  </li></ul><ul><li>•  Batten’s syndrome...
Staff <ul><li>Frambu has a multidisciplinary staff, covering medical, social and pedagogical aspects of life for families ...
In-house Family Courses at Frambu  <ul><li>Diagnosis-based educational courses of 5 days duration for different life phase...
Peer Interaction in the Kindergarten at Frambu during a Family Course for PWS.
Handball-Exercises in the Gym at Frambu during a Family Course for PWS
Water Activity in the Pool at Frambu
Videoconferences at Frambu <ul><li>PWS-course for parents and professionals working with young adults and adults with PWS ...
Outreach  Services to the Clients Municipality <ul><li>Information on rare diseases based on Evidence Based Practice.  </l...
A Visit to the Clients Municipality: Activities which challenges balance and concentration
Research Projects <ul><li>Rare disorders in Norway: A in-depth study of 94 persons of 8 different diagnostic groups is car...
Research Projects <ul><li>PWS: Growth hormone project for adults </li></ul><ul><li>Nutritonal intake by Young Children wit...
The project: Development of motor skills in preschool children with PWS  <ul><li>Six children were assessed five times dur...
From the Project: Goal: Put on Unfastened Shoes
The Situation in Norway for Rare Diseases <ul><li>We have to keep on working.  Some experience that it still takes long ti...
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About Frambu

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  • I will present a little bit about the situation for rare diseases in Norway but mainly talk to you about Frambu Resource centre for rare disorders where I work as a physiotherapist
  • Transcript of "About Frambu"

    1. 1. Frambu Resource Centre for Rare Disorders - an orientation Kaja Giltvedt Physiotherapist Frambu
    2. 2. Norway Resource centers University hospitals, County doctors, 16 Resource Centres for Rare Disorders 3rd line Special education schools, special education consultants Local hospitals, rehabilitation service 2nd line Schools, kindergartens, pedagogical/psychological service center Primary doctors, physiotherapists, occupational therapists, social workers 1st line Education Health
    3. 3. Rare Disorders in Norway <ul><li>Rare disorders in the Norwegian context are defined as having a prevalence of 1 pr. 10 000 or less. In Norway, that means less than 500 people! </li></ul><ul><li>The Norwegian Directorate for Health has a website with a list of rare diseases and centeres offering assistance. There are 16 different Resource Centre for Rare Disorders in Norway. </li></ul><ul><li>There is also a helpline which people can use to get more information about rare diseases </li></ul><ul><li>www.rarelink.eu </li></ul>
    4. 4. Frambu,Norway <ul><li>In-house family courses </li></ul><ul><li>Outreach activities in users local community </li></ul><ul><li>Research projects </li></ul><ul><li>Information material </li></ul><ul><li>Summer camps </li></ul>
    5. 5. Diagnoses <ul><li>• Angelman syndrome </li></ul><ul><li>• Ataxia Telangiectasia </li></ul><ul><li>• Batten’s syndrome </li></ul><ul><li>• Cockayne's syndrome and other ageing conditions </li></ul><ul><li>• Cornelia de Lange syndrome </li></ul><ul><li>• Cri du chat syndrome </li></ul><ul><li>• DiGeorges syndrome </li></ul><ul><li>• Fragile X syndrome </li></ul><ul><li>• Glutarsyreuri type 1 </li></ul><ul><li>• Infantile neuroaxonal dystrophy (Seitelberger's disease) </li></ul><ul><li>• Infantile neuronal ceroid lipofuscinose (INC L) </li></ul><ul><li>• Klinefelter syndrome </li></ul><ul><li>• Lesch-Nyhan syndrome </li></ul><ul><li>• Metachromatic leucodystrophy and other leucodystrophies </li></ul><ul><li>• Mitocondrial diseases </li></ul><ul><li>• Mucopolysaccharide disorders </li></ul><ul><li>• Muscle disorders </li></ul><ul><li>• Möbius syndrome </li></ul><ul><li>• Neurofibromatosis type 1 </li></ul><ul><li>• Neurofibromatosis type 2 </li></ul><ul><li>Noonan syndrome </li></ul><ul><li>• Excessive growth syndromes </li></ul><ul><li>• Prader-Willi syndrome </li></ul><ul><li>• Rett syndrome </li></ul><ul><li>• Rubinstein-Taybi syndrome </li></ul><ul><li>• Soto syndrome </li></ul><ul><li>• Very rare chromosomal divergences, which include retarded development </li></ul><ul><li>• Tay-Sachs disease </li></ul><ul><li>• Turner syndrome </li></ul><ul><li>• Von Hippel-Lindaus syndrome </li></ul><ul><li>• Williams' syndrome </li></ul><ul><li>•  Individuals with progressive, neurological, retarded development without any known medical diagnosis </li></ul>
    6. 6. Staff <ul><li>Frambu has a multidisciplinary staff, covering medical, social and pedagogical aspects of life for families with a member who is diagnosed with one of the listed disorders. </li></ul><ul><li>We have hotel facilities with kitchen and cleaners. </li></ul><ul><li>Frambu also has a 13 meter long swimming pool and a gym </li></ul>
    7. 7. In-house Family Courses at Frambu <ul><li>Diagnosis-based educational courses of 5 days duration for different life phases for the users. </li></ul><ul><li>Courses for grandparents </li></ul><ul><li>Courses for special educators, physioterhapists, medical doctors, social workers and care assistans </li></ul><ul><li>Camp for siblings </li></ul><ul><li>Summer camps </li></ul>
    8. 8. Peer Interaction in the Kindergarten at Frambu during a Family Course for PWS.
    9. 9. Handball-Exercises in the Gym at Frambu during a Family Course for PWS
    10. 10. Water Activity in the Pool at Frambu
    11. 11. Videoconferences at Frambu <ul><li>PWS-course for parents and professionals working with young adults and adults with PWS </li></ul><ul><li>Tony Holland from university of Cambridge UK and Susanne Blichfeldt from Glostrup Hospital in Copenhagen, visited Frambu last August </li></ul><ul><li>Videoconferences is a tool to increase the number of participants both in courses held at Frambu and in our outbound services </li></ul>
    12. 12. Outreach Services to the Clients Municipality <ul><li>Information on rare diseases based on Evidence Based Practice. </li></ul><ul><li>Networking </li></ul><ul><li>Information material </li></ul>
    13. 13. A Visit to the Clients Municipality: Activities which challenges balance and concentration
    14. 14. Research Projects <ul><li>Rare disorders in Norway: A in-depth study of 94 persons of 8 different diagnostic groups is carried out on the behalf of the Norwegian Directorate of Health. </li></ul><ul><li>The aim of the study was to shed light on how these persons experience their own life situation and how they had been treated by the health services. </li></ul><ul><li>Results </li></ul>
    15. 15. Research Projects <ul><li>PWS: Growth hormone project for adults </li></ul><ul><li>Nutritonal intake by Young Children with PWS, Marianne Lindmark Frambu </li></ul><ul><li>A physiotherapy follow up project of children with Prader-Willi syndrome. An explorative multi-case study: Development of motor skills in preschool children . </li></ul>
    16. 16. The project: Development of motor skills in preschool children with PWS <ul><li>Six children were assessed five times during preschool age using the Motor Scales of Bayley-II Scales of Infant Development (Bayley) and the Functional Mobility Skills Scale in Pediatrics Evaluation of Disability Inventory (PEDI) </li></ul><ul><li>The purpose was to track the children’s motor development and to compare it with age norms. </li></ul><ul><li>Regularly assessments showed that all children were significantly delayed </li></ul>
    17. 17. From the Project: Goal: Put on Unfastened Shoes
    18. 18. The Situation in Norway for Rare Diseases <ul><li>We have to keep on working. Some experience that it still takes long time for a rare diagnosis to be made. Many feel that they are left to face their problems alone. </li></ul><ul><li>Because personnel in the general health services seldom or never come into contact with rare disorders it is very important to have networks and Resource centres for rare disorders </li></ul>
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