Living with Williams Syndrome

June 2005, FonyodHow it startsThe Baby is born! It is vital and looks lovely.The birthweight is about 3000 g. Dreams are getting true.

June 2005, FonyodGetting nervousThe 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, FonyodSearching 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.number of publications / a 1962 2000FISH Test

Diagramm1

1

2

2

2

3

2

1

2

3

9

11

7

7

11

15

17

14

14

28

20

76

45

56

44

57

56

65

65

78

60

scout

Jahr

Publikationen

Diagramm2

11

20

21

21

31

22

11

21

33

95

1110

75

77

1111

1516

1715

1414

1414

2827

2017

7630

4550

5656

4456

5773

5659

6563

6564

7873

6065

scout

pubmed

year

puclications

Literature about Williams Syndrome

Diagramm3

111

202

212

212

313

222

111

212

333

959

111011

757

777

111111

151616

171517

141415

141414

282729

201719

763082

455059

565670

445668

577385

565970

656381

656475

787394

606584

FISH test

scopus

pubmed

total

Year

publications

Publications about WS

Diagramm4

1

0

1

1

1

2

1

1

3

5

10

5

7

11

16

15

14

14

27

17

30

50

56

56

73

59

63

64

73

65

pubmed

no of publications

Tabelle1

yearscopuspubmedtotalyearpubmed

197211119721

197420219740

197521219751

197721219771

197831319781

197922219792

198011119801

198221219821

198333319833

198495919845

1985111011198510

198675719865

198777719877

1988111111198811

1989151616198916

1990171517199015

1991141415199114

1992141414199214

1993282729199327

1994201719199417

1995763082199530

1996455059199650

1997565670199756

1998445668199856

1999577385199973

2000565970200059

2001656381200163

2002656475200264

2003787394200373

2004606584200465

Tabelle2

Tabelle3

June 2005, FonyodAccepting the DiagnosisIt 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.

June 2005, FonyodThere 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, FonyodToddlersDuring the first years, the families have to explore the medical resources in the neighborhod. They are getting well informed about the professionals according to the needs 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, FonyodKindergardenWhen 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, FonyodSchoolWhich 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, FonyodAdultsMany 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, FonyodBundesverband 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, FonyodThe German Williams Syndrome AssociationThe 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, FonyodThe Scientific BoardProf. Dr. Pankau P.D. Dr. Partsch Prof. Dr. WesselPediatry Endocrinology Cardiology Prof. Dr. Gosch Dr. Sarimski Prof. Dr. Weissenborn Psychology Psychology Linguistic

June 2005, FonyodMeetings familiar: brunch informative: symposium- comprehensiv: holiday camp

June 2005, FonyodPublicationsWS Introduction for Parents Guideline for Teachers

June 2005, FonyodTranslationsFulfilling DreamsBens Big Decision for sibblings Adults with WS

June 2005, FonyodNewsletter

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

Federation of European Williams Syndrome

June 2005, FonyodCONQUER THE NATURE UNDER THE MIDNIGHT SUN

June 2005, Fonyod

June 2005, Fonyod

June 2005, Fonyod

June 2005, Fonyod

June 2005, Fonyod

Mitglieder der FEWSBelgium, Williams Beuren Syndroom vzwGermany, Bundesverband William-Beuren-SyndromHungary, Magyar Williams Szindrma TrsasgIreland, Williams Syndrome Association of IrelandItaly, Associazione Italiana Sindromo di WilliamsNorway, Norsk Forening for Williams' Syndrom Spain, Asociacion Sindrome WilliamsSweden, Williams SyndromForeningen I SverigeUK, The Williams Syndrome Foundation

Mitglieder der FEWS Weitere Lnder haben bereits ihr Interesse an einer Mitgliedschaft bekundet: Slovakia, Spolonosti Williamsovho syndrmuFrankreich Schweiz

Mitgliedinteressiert

Anmerkung: In einigen Europischen Lndern gibt es keine WS Selbsthilfegruppe

Geschtzte 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)

Diagramm1

512.6

266.8

4120.15

258.85

2925.95

528

2986.95

189.7

2884.5

21.9

795.95

405.5

500.4

443.45

1973.25

Total

Beitritt 2004

68.45

118.6

184.75

513.65

1932.5

270.1

99.4

37.85

Malta

&A

Seite &P

Diagramm2

512.6

266.8

4120.15

258.85

2925.95

528

2986.95

189.7

2884.5

21.9

795.95

405.5

500.4

443.45

1973.25

Total

Beitritt 2004

68.45

118.6

184.75

513.65

1932.5

270.1

99.4

37.85

&A

Seite &P

Diagramm3

512.6

266.8

4120.15

258.85

2925.95

528

2986.95

189.7

2884.5

21.9

795.95

405.5

500.4

443.45

1973.25

&A

Seite &P

Diagramm4

2986.95

443.45

1973.25

500.4

795.95

21.9

2884.5

189.7

528

4120.15

2925.95

258.85

266.8

512.6

405.5

&A

Seite &P

Individuums

Diagramm6

2986.952986.951792.17

443.45443.45266.07

1973.251973.251183.95

500.4500.4300.24

795.95795.95477.57

21.921.913.14

2884.52884.51730.7

189.7189.7113.82

528528316.8

4120.154120.152472.09

2925.952925.951755.57

258.85258.85155.31

266.8266.8160.08

512.6512.6307.56

405.5405.5243.3

Individuums

Tabelle1

LandQuelle: Weltbank 2001, dtv Jahrbuch 2003 die welt in Zahlen daten Analysen

EU-15EinwohnerWBS1in100001in50000+-

GrobritannienUnited Kingdom5973900029875974119529871792

SchwedenSweden8869000443887177443266

SpanienSpain394650001973394778919731184

PortugalPortugal100080005001001200500300

NiederlandeNetherlands159190007961592318796478

LuxemburgLuxembourg438000224492213

ItalienItaly5769000028855769115428851731

IrlandIreland379400019037976190114

GriechenlandGreece105600005281056211528317

DeutschlandGermany8240300041208240164841202472

FrankreichFrance5851900029265852117029261756

FinnlandFinland5177000259518104259155

DnemarkDenmark5336000267534107267160

BelgienBelgium102520005131025205513308

sterreichAustria8110000406811162406243

Total37627900018814376287526

Beitritt 2004

Estland13690006813727

Lettland237200011923747

Litauen369500018537074

Tschechien102730005141027205

Polen3865000019333865773

Slowakei5402000270540108

Slowenien19880009919940

Zypern757000387615

Malta

Sonstige Beitrittskandidaten

Trkei65293000326565291306

Rumnien2243500011222244449

Bulgarien8167000408817163

Verschiedene

Vatikan1000000

Andorra67000371

Lichtenstein32000231

Monako32000231

Norwegen449100022544990

Jugoslawien106370005321064213

Kroatien438000021943888

San Marino27000131

Schweiz7180000359718144

Japan1268700006344126872537

USA28759600014380287605752

&A

Seite &P

Was sind die Ziele der FEWS?Koordination und Zusammenfhren von nationalen und regionalen Williams Syndrom Vereinigungen;Die Untersttzung von Individuen mit WS und deren Familien;Die Frderung von Erziehungsprogrammen;Die Koordination der Expertise der Fachleute innerhalb Europas;Allgemein: Den Bekanntheitsgrad vom Williams Syndrom steigern;

Was sind die Ziele der FEWS?Die Koordination der Forschung zu Williams Syndrom in Forschungseinrichtungen der Mitgliedslnder, Vermeidung von ber-lappender Forschung;Vergleich, Koordination Verffentlichung von Forschungsergebnissen in Fachzeitschriften;Die bersetzung von Verffentlichungen in die Sprachen der Mitglieds-lnder;Die Organisation von internationalen Kongressen;Die Frderung und Leitung von Kontakten zwischen verschiedenen WS Gruppen und mit Forschungseinrichtungen auerhalb der Fderation;Forschung: Die Frderung von zielgerichteter Forschung;

Aktivitten der FEWSDie Initiierung und Untersttzung von internationalen Aktivitten.2005 in Sommaroya, Norwegen

Teilnahme an Fachkonferenzen zu WS:1999 in Rom, Italien2001 in Turin, Italien2002 in Budapest, Ungarn2003 in Paris, Frankreich2004 in Rom, Italien2005 in Budapest, Ungarn

Untersttzung der Musik- und Freizeitlager in:UngarnIrlandSpanienSchweiz

Wie kann man die FEWS untersttzen?Frderprojekte fr Personen mit WS zu starten,Familien zu informieren, internationale Freizeiten und Konferenzen zu organisieren,den Bekanntheitsgrad von WS zu steigern,das Wissen ber WS zu verbessern. In erster Linie bentigen wir finanzielle und personelle Untersttzung um eine starke und kraftvolle Organisation zu werden, die folgende Projekte realisieren kann:

Wo finde ich die FEWS?www.eurowilliams.orgChairman: Susan E. CooperSecretary: Paul Pyck

Treffen der FEWS2002 in Lund, Schweden2003 in Paris, Frankreich2004 in Rom, Italien

Termine 200518. - 27. Juni 2005 Die Ungarische Ferienfreizeit in Fonyd 25. Juni 2005 Das Ungarische WS-Symposium 17. - 24. July 2005 The Irish Music Camp 23. - 30. July 2005 Musiklager in Gwatt bei Thun, williams-syndrome.ch Italien? Spanien? 1.WE.Sept. 2005 Reiterhof in sterreich12. - 20. July 2005 Conquer the nature under the midnight sun, Norway 21. - 22. Juni 2005 Luxemburg, Eurordis, Konferenz ber seltene Krankheiten, www.rare-luxembourg2005.org