Living with Williams Syndrome
description
Transcript of Living with Williams Syndrome
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Living with Williams Syndrome
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June 2005, FonyodHow it startsThe Baby is born! It is vital and looks lovely.The birthweight is about 3000 g. Dreams are getting true.
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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.
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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
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pubmed
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puclications
Literature about Williams Syndrome
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publications
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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
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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.
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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.
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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.
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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.
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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!
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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?
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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
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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.
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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
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June 2005, FonyodMeetings familiar: brunch informative: symposium- comprehensiv: holiday camp
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June 2005, FonyodPublicationsWS Introduction for Parents Guideline for Teachers
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June 2005, FonyodTranslationsFulfilling DreamsBens Big Decision for sibblings Adults with WS
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June 2005, FonyodNewsletter
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June 2005, FonyodInternet: www.w-b-s.de 100 families are using the e-mail-list
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Federation of European Williams Syndrome
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June 2005, FonyodCONQUER THE NATURE UNDER THE MIDNIGHT SUN
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June 2005, Fonyod
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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
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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
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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
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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
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Diagramm4
2986.95
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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
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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;
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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;
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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
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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:
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Wo finde ich die FEWS?www.eurowilliams.orgChairman: Susan E. CooperSecretary: Paul Pyck
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Treffen der FEWS2002 in Lund, Schweden2003 in Paris, Frankreich2004 in Rom, Italien
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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