addressedwww.57.com

EDITORIALOpenAccessAwakeningAustraliatoRareDiseases:SymposiumreportandpreliminaryoutcomesHughJSDawkins1,2,3*,CaronMMolster1,LeanneMYoungs1andPeterCO'Leary1,2,3,4BackgroundWesternAustraliarecentlyhostedAustralia'sinauguralnationalrarediseasessymposium,entitledAwakeningAustraliatoRareDiseases:Globalperspectivesonestablishingacoordinatedapproachtoanationalplanhttp://www.
raredisease.
com.
auintheportcityofFremantle,WesternAustraliafromthe17th-20thofApril2011.
TheOfficeofPopulationHealthGenomics(OPHG),DepartmentofHealthWesternAustralia,inconjunctionwiththeAustralianPaediatricSurveillanceUnit(APSU),initiatedtheSymposiumandestablishedNationalandLocalOrganizingCommitteestocomposeaprogramthatincludedplenarysessionsofinvitedspeakersfollowedbysmallgroupdiscussionstoexploreissuesraisedinthefor-malpresentations.
ThesessionsandcontentwereinformedbytheWesternAustraliansupportingorganisa-tionbranchesofCarersAustralia,CysticFibrosisAustralia,MotorNeuroneDiseaseAustralia,MultipleSclerosisSocietyofWesternAustralia,MuscularDystrophyWAandSensesFoundationwithclinicalanddisabilityinsightsfromGeneticServicesofWesternAustraliaandtheDis-abilityServicesCommission.
ThisnationalrarediseasesymposiumbuiltontheworkbegunbytheHumanGeneticsSocietyofAustralasia(HGSA)onraregeneticdisordersandmorerecentlybytheASPUledRareDis-easesWorkingGroup[1].
InternationalspeakersandadvisorspresentedtheirexperiencesandperspectivesasrepresentativesofarangeoforganisationsandinstitutionsincludingtheU.
S.
NationalOrganisationforRareDisorders(NORD),theInternationalConferencesonRareDiseases(ICORD),NewZealandOrganisationforRareDiseases(NZORD),EuropeanOrganisationonRareDiseases(EURORDIS),OrphanetandtheU.
S.
NationalInstitutesofHealthOfficeofRareDiseasesResearch.
Morethan160speakersanddelegatesattendedfromarangeofcountriesinclud-ingAustralia,NorthAmerica,UnitedKingdom,NewZealand,France,HongKongandSingapore.
Themajor-ityofdelegateswerepeoplelivingwithararediseasewhogenerouslysharedtheirpersonalnarrativesandcon-tributedinvaluableinformationonmanyoftheissuesthatwillleadtotheformulationofaNationalPlan.
KeyOutcomesTheSymposiumregistrationsessionincludedthelaunchof"RareFriends",anon-partisannetworkofStatepoliti-cians,formedtoraiseawarenessoftheimpactofraredis-ordersinthecommunityandtosupportsolutionsthatimprovelifeoutcomesforthoselivingwithraredisordershttp://www.
raredisease.
com.
au.
Inaddition,RareFriendsarecommittedtoextendingtheirnetworkthroughStateandFederalparliamentarycolleagues.
DrNoelNannup,arespectedindigenousNoongarElderandscholar,providedastirringwelcometocountryintheNoongarlanguageandatranslationandexplanationoftheceremonywithreferencetothegatheringofdelegatesattheSymposium.
MrKimSnowball,DirectorGeneraloftheDepartmentofHealthinWesternAustraliathenlaunchedtheSymposiumbyhighlightingtheimportanceofrarediseaseswithinthecontextofhealthservicedeliv-ery[2,3].
Hespokeoftheimpactofchronic,oftenlife-shorteningandgenerallydebilitatingdiseasesandthefrequentassociationswithotherco-morbiditiessuchasdevelopmentaldelays,depressionandintellectualdisability[4-6].
Accordingtobestestimatesrarediseasescumula-tivelyaffectbetween6-8%oftheAustralianpopulation[1,4,7].
MrSnowballobservedthattheissuesconfrontingthosewithrarediseasesareuniversalandarebestresearchedandaddressedthroughglobalcollaborations.
HeannouncedthatthisSymposiumwasthestartingpointforaWesternAustralianrarediseaseplanthatwillfeedintoanationalrarediseasestrategy[8-12].
MrSnowballcommittedWAHealthtoworkingwithhealthprofes-sionals,serviceprovidersandgovernmentstoimprovethehealthandwellbeingofpeoplewithrarediseases.
*Correspondence:hugh.
dawkins@health.
wa.
gov.
au1OfficeofPopulationHealthGenomics,WesternAustralianDepartmentofHealth,POBox8172,StirlingStreet,Perth,WA,AustraliaFulllistofauthorinformationisavailableattheendofthearticleDawkinsetal.
OrphanetJournalofRareDiseases2011,6:57http://www.
ojrd.
com/content/6/1/572011Dawkinsetal;licenseeBioMedCentralLtd.
ThisisanOpenAccessarticledistributedunderthetermsoftheCreativeCommonsAttributionLicense(http://creativecommons.
org/licenses/by/2.
0),whichpermitsunrestricteduse,distribution,andreproductioninanymedium,providedtheoriginalworkisproperlycited.
OverthethreedaysoftheSymposiumprogramthedelegateshadtheopportunitytolistentothevastexperi-encesoftheinternationalspeakersand,moreimportantly,peoplelivingwithrarediseases.
(Refertofullprogramhttp://www.
raredisease.
com.
au).
Thesetalkscoveredawiderangeofpolicyissuesincludingparticipantandpro-fessionalperspectivesofthehistoryofanationalplaninAustralia,theroleofumbrellaorganisations(NORD:TheNationalOrganizationforRareDisordersintheUnitedStatesofAmericaandEURORDIS:RareDiseasesEurope),therolesofgeneralpractitioners,specialistphysiciansanddisabilityservices,clinicaltrialsandregistries,andtheeffectiveapplicationofcoordinatednetworkstoadvocateonbehalfofthosewithrarediseases.
Severalindividualssharedtheirpersonalexperiencesofdiagnosis,therapeuticinterventionsandprognoses.
Amongthemostpoignantwasthestoryofayoungmanwithaprogressiveneuro-musculardisorder,whobeganbyaskingthedelegatesnottofocusonhisgeneticdiagnosisashewasoneofmanywholivedwithsomeformofraredisease.
Hisfinalmes-sage,"Idon'tneedtobecured,Ijustwanttolive"encap-sulatedtheneedtoaccommodatemultidimensionalthemesinararediseasestrategy.
Collectivelytheplenarytalkswerecrucialinframingthestakeholderengagementworkshopsessionswhichwereconductedasdeliberative-stylediscussions[13].
Duringthesesessions,participantsdiscussedtheirperspectivesonthegoalsofanationalplan,empowermentandadvocacy,medicalandsocialsupportagencies,researchandtransla-tion,networksandpartnershipsthatledtoaconsensusonrecommendingthedevelopmentofanationalplanforrarediseases.
Attheendofeachworkshopsessioneachgrouppreparedawrittensummaryoftheirdeliberationsandoutcomeswhichwerecollatedforreview.
Preliminaryanalysesofparticipantresponsestoanend-of-forumsurveyindicatesatisfactionthattheengagementprocesswastransparent,respectfulandveryusefultoidentifythekeyissuesfortherarediseasescommunity.
Participantsalsoreflectedthatitwasimportanttoestab-lishacooperationnetworkthatcreatedasinglevoiceonbehalfofthosewithrarediseasesinAustralia.
Althoughthefeedbackisstillbeinganalysed,therewasconsensusonkeyissues:AnenthusiasticendorsementtodevelopaNationalPlaninformedbythesymposiumwork-shopsandongoingengagementprocesses,buildingonexistinginternationalframeworksandnationalplanssuchastheEUROPLANandtofacilitateinter-nationalcollaborations;Theagreementtoformasingleoverarchingadvo-cacygroupforrarediseasesinAustraliathatensuresavoiceforallpersonslivingwithararedisease;Arecognitionthatadvocacytogovernmentonbehalfofallrarediseasesrequirescollaborationwiththepharmaceuticalindustryandacademicresearch-erstodrivedevelopments;Agreementontheneedforimprovementsinthecollectionandanalysesoftheincidenceandpreva-lenceofrarediseases,thecoststofamilies,commu-nity,nationalproductivity,andthehealthanddisabilityservicesthroughvoluntarynationalrarediseaseregistries;Specificattentionwasdirectedtowardsexploringhowservicedeliverycouldbeimprovedthroughintegrated,multi-disciplinaryclinicalandsupportnetworkswithsharedcare,managementandservicesrequirementsandsupportfortheproposedNationalDisabilityInsuranceSchemehttp://www.
everyaustra-liancounts.
com.
au.
ConclusionThemeetingconcludedwithanopensessionandadiscus-sionofdelegates'viewsabouttheactionsthatwouldadvancethedevelopmentoftheNationalPlan.
TheDirec-torofOPHG,DrPeterO'Learysummarisedthesuccessfuloutcomesofthedeliberativeengagementsessions,notingthefivethemes(above)thatwillbecarriedforwardwiththeenthusiasticendorsementofallthedelegates.
Asafarewellmessage,wewereremindedthatDrNannuphadprovidedeachdelegatewiththegiftofatra-ditionalIndigenousmessagesticktocommemoratethegathering,thediscussionsandtheshareddecisionstogoforward.
Thesesticksserveassymbolsofthecommunalresponsibilitytomaintainthespiritofcollaboration,com-municationandgoodwillsharedattheSymposium.
AcknowledgementsMembersofthestudygroup:NationalOrganisingCommitteemembers:HDawkins(Chair),EElliott(DeputyChair),JForman,JGoldblatt,JMcGaughran,CMolster,KNorth,SPeden,LYoungsandYZurynskiandLocalOrganisingCommitteemembers:NBarker,GBaynam,SChilvers,SColyer,HDawkins(Chair),MEvans,CFranklin,CMolster,LMurphy,SO'Sullivan,SShapland,MStaffordandLYoungs.
Theorganisersandparticipantsthankthesponsors,particularlytheGoldSponsorsMurdochUniversity,GenzymeandtheGovernmentofWesternAustraliaDepartmentofHealth;andtheSilverSponsor,LifeTechnologies.
Withouttheirgeneroussupport,andthesupportfromourothersponsors,wewouldnothavebeenabletoprovidethefacilitiesandinformationthatareimportantforthistypeofsymposium.
Authordetails1OfficeofPopulationHealthGenomics,WesternAustralianDepartmentofHealth,POBox8172,StirlingStreet,Perth,WA,Australia.
2CentreforPopulationHealthResearch,CurtinHealthInnovationHealthResearchInstitute,CurtinUniversity,Perth,WA,Australia.
3SchoolofPathologyandLaboratoryMedicine,UniversityofWesternAustralia,WA,Australia.
4SchoolofWomen'sandInfants'Health,UniversityofWesternAustralia,WA,Australia.
Dawkinsetal.
OrphanetJournalofRareDiseases2011,6:57http://www.
ojrd.
com/content/6/1/57Page2of3CompetinginterestsTheauthorsdeclarethattheyhavenocompetinginterests.
Received:13May2011Accepted:18August2011Published:18August2011References1.
JaffeA,ZurynskiY,BevilleL,ElliottE:Callforanationalplanforrarediseases.
JournalofPaediatricsandChildHealth2009,46(1-2):2-4.
2.
DyeD,BrameldKJ,MaxwellS,GoldblattJ,BowerC,LeonardH,BourkeJ,GlassonEJ,O'LearyP:Theimpactofsinglegeneandchromosomaldisordersonhospitaladmissionsofchildrenandadolescents:apopulationbasedstudy.
PublicHealthGenomics2011,14(3):153-161.
3.
DyeD,BrameldKJ,MaxwellS,GoldblattJ,BowerC,LeonardH,BourkeJ,GlassonEJ,O'LearyP:Theimpactofsinglegeneandchromosomaldisordersonhospitaladmissionsinanadultpopulation.
JournalofCommunityGenetics2011,2:81-90.
4.
DonaldsonL:Rareiscommon.
AnnualReportoftheChiefMedicalOfficerDepartmentofHealth,UK;2009,38-45.
5.
EURORDIS:Rarediseasesunderstandingthispublichealthpriority.
EuropeanOrganisationforRareDiseases2005.
6.
GuillemP,CansC,Robert-GnansiaE,AyméS,JoukPS:Rarediseasesindisabledchildren:anepidemiologicalsurvey.
ArchDisChild2008,93(2):115-118.
7.
Prevalenceofrarediseases:Bibliographicdata.
InOrphanetReportSeries.
Editedby:OlryA,AyméS.
Orphanet:Paris;2010.
8.
EURareDiseasesTaskForce:CentresofreferenceforrarediseasesinEurope:State-of-the-artin2006andrecommendationsoftheRareDiseasesTaskForce.
2006.
9.
ForrestC,BartekRJ,RubinsteinY,GroftSC:Thecaseforaglobalrare-diseasesregistry.
Lancet2011,26;377(9771):1057-1059.
10.
OlausonA:TheAgrenskaCentre:asocioeconomiccasestudyofrarediseases.
Pharmacogenomics2002,20(Suppl3):73-75.
11.
RubinsteinY,GroftSC,BartekR,BrownK,ChristensenRA,CollierE,FarberA,FarmerJ,FergusonJH,ForrestCB,LockhartNC,McCurdyKR,MooreH,PollenGB,RichessonR,MillerVR,HullS,VaughtJ:Creatingaglobalrarediseasepatientregistrylinkedtoararediseasesbiorepositorydatabase:RareDisease-HUB(RD-HUB).
ContemporaryClinicalTrials2010.
12.
SchiepattiA,HenterJI,DainaE,AperiaA:Whyrarediseasesareanimportantmedicalandsocialissue.
Lancet2008,371:2039.
13.
MolsterC,MaxwellS,YoungsL,KyneG,HopeF,DawkinsH,O'LearyP:Blueprintforadeliberativepublicforumonbiobankingpolicy:WeretheoreticalprinciplesachievableinpracticeHealthExpectations2011.
doi:10.
1186/1750-1172-6-57Citethisarticleas:Dawkinsetal.
:AwakeningAustraliatoRareDiseases:Symposiumreportandpreliminaryoutcomes.
OrphanetJournalofRareDiseases20116:57.
SubmityournextmanuscripttoBioMedCentralandtakefulladvantageof:ConvenientonlinesubmissionThoroughpeerreviewNospaceconstraintsorcolorgurechargesImmediatepublicationonacceptanceInclusioninPubMed,CAS,ScopusandGoogleScholarResearchwhichisfreelyavailableforredistributionSubmityourmanuscriptatwww.
biomedcentral.
com/submitDawkinsetal.
OrphanetJournalofRareDiseases2011,6:57http://www.
ojrd.
com/content/6/1/57Page3of3