Living with Williams Syndrome

1. Living with Williams Syndrome

2. How it starts The Baby is born! It is vital and looks lovely. The birthweight is about 3000 g. Dreams are getting true. June 2005, Fonyod

3. Getting nervous The Baby is develloping slower than expected! Each milestone is delayed. The muscle tonus is low. It does not drink enough. It is often crying during the night. Something is different…. The parents are getting in psychological and physical trouble. June 2005, Fonyod

4. Searching for an explanation. Finding the answer is getting easier in the last years. The awareness and the knowledge about WS increased during the last years. The cardiologists and the geneticists are well informed. But many pediatricians are not trained in rare diseases. Without heart failure it may take years to get the correct diagnosis. There are still undiagnosed adults with WS. FISHTest number of publications / a June 2005, Fonyod 1962 2000

5. Accepting the Diagnosis June 2005, Fonyod It is the time for grief. To bury some dreams! The way how to navigate live has to be planed again. It is an important step to accept the child with his special needs.

6. There are so many questions…. The description of the syndrom is still mainly based on deficits. Do you want your child to get a cobold or an elf? The challenges for the families are tremendous! They need support and information how to manage the day. They need confidence for the future. These families are getting experts for WS within the years. They are searching for the best intervention and support strategies! They are interested to communicate about their observations and experiences. June 2005, Fonyod

7. Toddlers During the first years, the families have to explore the medical resources in the neighborhod. They are getting well informed about the professionals according to theneeds of their child. If possible, teams and social networks are build up. There will be a shift within the friends of the family. Many parents are feeling guilty for the disorder (cigarettes? wine?) until they are informed about the genetic background. Feeding the child and restless nights are a big burden. Many new therapies like ergotherapy, logopediae, bopard etc. will be started as early intervention. The parents will explore the town like a taxi driver. June 2005, Fonyod

8. Kindergarden When the child comes to the kindergarten, some milestones may be initiated by the contact to other children. In some integrative kindergardens, therapies and intervention programes are included. Due to the delayed development, it is difficult for the infant to stay in contact with the other childs /peers, which are developing faster. Due to the amount of therapies, the child may prefere contact to adults and cannot be a permanent member in the group. The child needs support to learn social skills. Like, how to get in contact with peers; how to initiate and to keep friendships. June 2005, Fonyod

9. School Which school is appropriate for this unusual ability profile? Teaching this children is a great challenge for their teachers. More specific learning strategies are still needed (for example: numbers). With school, the child stays many hours far away from home and is losing the contact to the peers in the neighborhood. The child is getting aware about his disabilities and when help is needed. He knows, when he does not fit in a group. The awareness about the disorder is getting more and more expressed. If there are sibblings, the parents have to be aware of them, to spent enough time with them, too. And to give them special attention! June 2005, Fonyod

10. Adults Many adult individuals with WS are still living with their parents. Only few have their own appartment or an assistance for a living and working group. Which kind of work is increasing their self-confidence and is integrating them appropriate in the community? How to teach them a way to be able to start an independent life with friendships and selfdetermined sexuality? What kind of resources are available for recreation time? Which medical service is available for older individuals with WS? June 2005, Fonyod

11. Bundesverband Williams-Beuren-Syndrom e.V. Was formed in 1989, Managed only by volunteers Has contact to about 650 families (400 members) There was no newsletter during the last 4 years Now, there is a new board! Started at the last national convention, 4th of June 2005 June 2005, Fonyod

12. The German Williams Syndrome Association • The Mission: • Support of individuals with Williams Syndrome and their families; • Mediating the contact between families; • Organizing of meetings; • Informing the families about new facts related with WS; • Spreading the awareness about Williams Syndrome; • Supporting the scientific board and the research of WS; • Cooperation with related instutions and associations. June 2005, Fonyod

13. The Scientific Board Prof. Dr. Pankau P.D. Dr. Partsch Prof. Dr. Wessel Pediatry Endocrinology Cardiology June 2005, Fonyod Prof. Dr. Gosch Dr. Sarimski Prof. Dr. Weissenborn Psychology Psychology Linguistic

14. Meetings • familiar: brunch • informative: symposium • - comprehensiv: holiday camp June 2005, Fonyod

15. Publications WS – Introduction for Parents Guideline for Teachers June 2005, Fonyod

16. Translations “Fulfilling Dreams” “Ben´s Big Decision” for sibblings Adults with WS June 2005, Fonyod

17. Newsletter June 2005, Fonyod

18. Internet: www.w-b-s.de June 2005, Fonyod 100 families are using the e-mail-list

19. Federation of European Williams Syndrome

20. June 2005, Fonyod CONQUER THE NATURE UNDER THE MIDNIGHT SUN

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26. Mitglieder der FEWS Belgium, Williams Beuren Syndroom vzw Germany, Bundesverband William-Beuren-Syndrom Hungary, Magyar Williams Szindróma Társaság Ireland, Williams Syndrome Association of Ireland Italy, Associazione Italiana Sindromo di Williams Norway, Norsk Forening for Williams' Syndrom Spain, Asociacion Sindrome Williams Sweden, Williams SyndromForeningen I Sverige UK, The Williams Syndrome Foundation

27. Mitglieder der FEWS Weitere Länder haben bereits ihr Interesse an einer Mitgliedschaft bekundet: • Slovakia, Spoločnosti Williamsovho syndrómu • Frankreich • Schweiz Mitglied interessiert Anmerkung: In einigen Europäischen Ländern gibt es keine WS Selbsthilfegruppe

28. Geschätzte Anzahl an Personen mit WS in Europa-15 • In EU-15 kann es insgesamt 18.800 Personen mit Williams Syndrom geben (Bereich: 7,500 - 37,600 Individuen)

29. Was sind die Ziele der FEWS? • Koordination und Zusammenführen von nationalen und regionalen Williams Syndrom Vereinigungen; • Die Unterstützung von Individuen mit WS und deren Familien; • Die Förderung von Erziehungsprogrammen; • Die Koordination der Expertise der Fachleute innerhalb Europas; • Allgemein: • Den Bekanntheitsgrad vom Williams Syndrom steigern;

30. Was sind die Ziele der FEWS? Forschung: • Die Förderung von zielgerichteter Forschung; • Die Koordination der Forschung zu Williams Syndrom in Forschungseinrichtungen der Mitgliedsländer, Vermeidung von über-lappender Forschung; • Vergleich, Koordination Veröffentlichung von Forschungsergebnissen in Fachzeitschriften; • Die Übersetzung von Veröffentlichungen in die Sprachen der Mitglieds-länder; • Die Organisation von internationalen Kongressen; • Die Förderung und Leitung von Kontakten zwischen verschiedenen WS Gruppen und mit Forschungseinrichtungen außerhalb der Föderation;

31. Aktivitäten der FEWS • Die Initiierung und Unterstützung von internationalen Aktivitäten. • 2005 in Sommaroya, Norwegen • Teilnahme an Fachkonferenzen zu WS: • 1999 in Rom, Italien • 2001 in Turin, Italien • 2002 in Budapest, Ungarn • 2003 in Paris, Frankreich • 2004 in Rom, Italien • 2005 in Budapest, Ungarn • Unterstützung der Musik- und Freizeitlager in: • Ungarn • Irland • Spanien • Schweiz

32. Wie kann man die FEWS unterstützen? In erster Linie benötigen wir finanzielle und personelle Unterstützung um eine starke und kraftvolle Organisation zu werden, die folgende Projekte realisieren kann: • Förderprojekte für Personen mit WS zu starten, • Familien zu informieren, • internationale Freizeiten und Konferenzen zu organisieren, • den Bekanntheitsgrad von WS zu steigern, • das Wissen über WS zu verbessern.

33. Wo finde ich die FEWS? www.eurowilliams.org Secretary: Paul Pyck Chairman: Susan E. Cooper

34. Treffen der FEWS 2002 in Lund, Schweden 2003 in Paris, Frankreich 2004 in Rom, Italien

35. Termine 2005 21. - 22. Juni 2005 Luxemburg, Eurordis, Konferenz über seltene Krankheiten, www.rare-luxembourg2005.org 18. - 27. Juni 2005Die Ungarische Ferienfreizeit in Fonyód 25. Juni 2005Das Ungarische WS-Symposium 17. - 24. July 2005The Irish Music Camp 23. - 30. July 2005Musiklager in Gwatt bei Thun, williams-syndrome.ch Italien? Spanien? 1.WE.Sept. 2005 Reiterhof in Österreich 12. - 20. July 2005Conquer the nature under the midnight sun, Norway