Session 21 hennekam_without_pictures

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Session 21 hennekam_without_pictures

  1. 1. Very Rare Disorders organisation of care Raoul CM Hennekam Academic Medical Center UvA Amsterdam
  2. 2. Rare Disorders <ul><li><1:2,000 </li></ul><ul><li>Example: Marfan syndrome </li></ul><ul><li>1:10,000 </li></ul><ul><li>Number in Europe 75,000 </li></ul>
  3. 3. Very Rare Disorders <ul><li><1:2,000,000 </li></ul><ul><li>Numbers in Europe 50-300/entity </li></ul><ul><li>Examples </li></ul><ul><li>del11qter Progeria </li></ul>
  4. 4. Very Rare Disorders <ul><li>Example </li></ul><ul><li>Marshall-Smith syndrome </li></ul><ul><li>Number in Europe 30 </li></ul>
  5. 5. Very Rare Disorders <ul><li>Example </li></ul><ul><li>Marshall-Smith syndrome </li></ul>
  6. 6. Very Rare Disorders <ul><li>Example </li></ul><ul><li>Marshall-Smith syndrome </li></ul><ul><li>Number in Europe 30 </li></ul><ul><li>Sporadic </li></ul><ul><li>No cause known </li></ul>
  7. 7. Ultra Rare Disorders <ul><li><1:100,000,000 </li></ul><ul><li>Numbers in Europe 5-10 </li></ul>
  8. 8. Ultra Rare Disorders <ul><li>Example: Causes of mental retardation </li></ul><ul><li>Diagnosis in 50-55% </li></ul><ul><li>Genetically determined 75-80% </li></ul><ul><li>Three most common </li></ul><ul><li>Down syndrome Fetal Alcohol Fragile X </li></ul>
  9. 9. Ultra Rare Disorders <ul><li>Example: Causes of mental retardation </li></ul>? known 1:10,000 1:25,000 1:100,000 1:1,000,000 less than 1:1,000,000 Down FAS FraX CHARGE Prader-Willi Rubinstein- Taybi Marshall- Smith micro- imbalances
  10. 10. Ultra Rare Disorders <ul><li>Example: Causes of mental retardation </li></ul><ul><li>Diagnosis in 50-55% </li></ul><ul><li>Genetically determined 75-80% </li></ul><ul><li>As yet unknown group 35-40% genetic cause </li></ul><ul><li>Prevalences 1:10,000,000-100,000,000 </li></ul>total number in Europe 5,000,000-10,000,000
  11. 11. Ultra Rare Disorders <ul><li>Medical care </li></ul><ul><li>Not fragmented </li></ul><ul><li>Reachable </li></ul><ul><li>Affordable families </li></ul><ul><li>Affordable countries </li></ul>centres for rare diseases 1/country or 1/30,000,000 inhab
  12. 12. Ultra Rare Disorders <ul><li>Medical care </li></ul><ul><li>Issues </li></ul><ul><li>Languages </li></ul><ul><li>Costs hospital </li></ul><ul><li>Costs stay </li></ul><ul><li>Transportation information </li></ul>but especially: Communication Trust
  13. 13. Ultra Rare Disorders <ul><li>Medical care </li></ul><ul><li>Further Issues </li></ul><ul><li>Choice disorder / center </li></ul><ul><li>Grouping </li></ul><ul><li>Choice locations </li></ul><ul><li>Flagging </li></ul><ul><li>Research </li></ul>
  14. 14. Ultra Rare Disorders <ul><li>Medical care </li></ul><ul><li>Example Marshall-Smith </li></ul><ul><li>One hospital </li></ul><ul><li>E112 form </li></ul><ul><li>Ronald McDonald house </li></ul><ul><li>Flagging though support group </li></ul><ul><li>e-mail consultations </li></ul><ul><li>Research </li></ul>
  15. 15. Ultra Rare Disorders <ul><li>‘ Mutual’ care </li></ul><ul><li>Europe-wide Registration </li></ul><ul><li>Support groups </li></ul><ul><li>Site </li></ul><ul><li>e-mail consultations </li></ul>
  16. 16. Ultra Rare Disorders <ul><li>‘ Mutual’ care </li></ul><ul><li>Example Marshall-Smith </li></ul><ul><li>Active parents </li></ul><ul><li>Site </li></ul>
  17. 17. Ultra Rare Disorders <ul><li>‘ Mutual’ care </li></ul><ul><li>Example Marshall-Smith </li></ul><ul><li>Active parents </li></ul><ul><li>Site </li></ul><ul><li>Wiki </li></ul>
  18. 18. Ultra Rare Disorders <ul><li>‘ Mutual’ care </li></ul><ul><li>Issues Marshall-Smith </li></ul><ul><li>Same as for Medical care </li></ul>
  19. 19. Ultra Rare Disorders <ul><li>Suggestion </li></ul><ul><li>In FP8 specific call for centers for rare disorders </li></ul><ul><li>Facilities local governments </li></ul><ul><li>Costs insurance companies </li></ul>
  20. 20. Ultra Rare Disorders

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