Annual Conference Insight Report 2025

Metabolic Support UK is a charity registered in England and Wales (1089588) in Scotland (SCO44634) and a Company Limited by Guarantee (04267454).

LivingwellforourIMDcommunity,forallofus,ishelpedbycoming together,sharing,andbeingamongstpeoplewhounderstand

Thisyear’svenuewasaversatilespacewhichallowedformore speakersandcondition-specificsessions Wehopeourconference gavepeoplethechancetobeheard,tolisten,andtofeelconnected. Thankyoutoeveryonewhoattended,helpedout,sponsored,and supported Kirsty

overview

OnSaturday15thNovember2025,wehostedourAnnualCommunity ConferenceattheStudioinBirmingham Thedaywasattendedby115 peoplerepresentingawiderangeofourcommunity,including individualslivingwithaninheritedmetabolicdisorder,familymembers, friends,caregivers,andhealthcareprofessionals Wewerealsojoined byrepresentativesfromAlexionandKyowaKirin(goldsponsors)and Alesta,AmicusandSciensus(silversponsors)whosupportedtheday andcontributedtodiscussions

Welcome

ThedayopenedwithremarksfromKirstyHoyle,CEOofMetabolic SupportUK,andPaulCox,Co-ChairoftheMetabolicSupportUKBoard ofDirectors,whowelcomedtheIMDcommunitytothe2025Annual CommunityConference.

Theyreflectedonhowtheeventhadbeendesignedwiththe communityatitsheart.OverthepastyearMSUKaskedpeoplewhat theywantedfromaconference.Theaimwastocreateadayshaped bythoseresponses,aconnecteddaywherepeoplecouldlearn,share andspeakopenlyabouttheirneedsandexperiences.

KirstyandPaulalsospokeabouttheimportanceoflookingforward. TheyencouragedthecommunitytocontinuetellingMSUKwhatthey wantfromtheorganisation bothwithindisorderspecificcommunities

Hoyle, Chief executive officer

What?

2025MSUK Community Conference

Where?

theStudio, Birmingham, UK When? Saturday, 15thNov 2025

Theme: Connecting and Strengthening ourIMD community

Audience:

Peopleliving withanIMD andtheir families, metabolic healthcare professionals andindustry.

HelenM opened atLowP Sreekan andChi timech session

Birming innovat

Aninter lowprot expensi intoDrS howthe conditio balance avoidin covered Disorde repeate medication,andemergencyplans.

DrDalythendiscussedtheemergingfieldofprecisionfermentation. Sheexplainedhowitmaybecomepossibletocreatecomplete proteinsthatexcludethespecificaminoacidsthatcauseproblemsin IMDs.Theselaboratory-producedproteinscouldofferbettertaste, improvednutrition,andgreaterflexibilityincooking.Attendees expressedamixtureofexcitementandcaution,highlightingthe importanceofsafety,taste,andlong-termeffects.

Thesessionclosedwithalivelygroupdiscussion Attendees sharedrealchallengesfacedatschool,inrestaurants,andeven innon-specialisthospitals.Speakersofferedpracticaladviceand encouragedpeopletoadvocateforbetterunderstandingofIMDs Thediscussionhighlightedtheneedforeducation,stronger communication,andcontinuedinnovationtomakelifewithalow proteindietmoremanageable.

KirstyHoyle,CEOofMetabolicSupportUK,andDrElise Wilby,ResearchandPolicyOfficeratMetabolicSupport UK,ledanopenfiresideconversationthatunpackedhow medicinesreachtheNHSandwhythisjourneyfeels deeplyunfairformanypeoplelivingwithrareconditions

Usingclearvisuals,theywalkedtheroomthroughthe typicalprocessfromearlyresearchtoregulatoryapproval andthentoassessmentforNHSfunding.Theyexplainedthat whilethispathwayworkssmoothlyforcommonconditionswithstrong researchfoundations,itbecomesdifficultandunevenwhenappliedtosmall communities.

Thesessionhighlightedthebiggestsourceofunfairness:rareconditionsare expectedtomeetthesameevidencestandardsascommonones,even thoughtheirpopulationsaresmallanditisoftenchallengingtoruntrialsatthe scaleregulatorybodiesfindacceptable.Manymedicinesnevermakeitto regulatorsorNICEbecausecompaniescannotgeneratethelevelofdata requiredorcannotjustifythecostofenteringtheUKsystem.Asaresult,the biggestbarrierisoftennotthescience,butthestructureofthepathwayitself.

Althoughthesystemhasclearproblems,theconversationalsoacknowledged signsofprogress.Changesatregulatoryandpolicylevelsshowthatthe systemisbeginningtoevolveandthatrareconditionsaregainingmore attention.Thespeakersencouragedfamiliestoviewthisasareasonforhope whilerecognisinghowmuchworkremains.

Finally,theydiscussedtheimportanceofcommunityinvolvement Lived experiencehelpsdecisionmakersunderstandthetrueimpactofacondition andthevalueoftreatmentsinwaysthatnumbersalonecannotshow.The speakersemphasisedthatcommunityevidenceandparticipationin consultationscanshiftoutcomesanddrivefairness.

Keytakeaways:

ManymedicinesneverentertheUKassessmentsystem

Cost-effectivenessrulesdisadvantagesmallcommunities

DecisionsintheUKaffectaccessinternationally

Communityinsightisessentialtoimprovingfairness dforcommonones

Kirsty hoyle, ceo delivering the rare disease landscape talk

SESSION THREE - IMDs and reclaiming joy

HelenMorris,SupportandAdviceManageratMetabolic SupportUK,ledanupliftingsessionontheeveryday momentsthathelpuslivewellwithIMDs.Drawingon themesfromourThoughtsintoActionreportandthe RaregiversEmotionalJourneyMap,Helenspokeabout theemotionaltollthatIMDsplaceonfamiliesandthe needtobalancethiswithmomentsoflightnessandjoy Sheremindedtheroomthatjoyisnotaluxurybut somethingthathelpspeopletocope,connect,and breathethroughdifficultdays.

Thesessionexploredthedifferencebetweenhappinessandjoy.Happiness oftendependsoncircumstancessuchasfamily,work,orhealth Joyis presentinsmallmomentswhereeverythingelsefallsaway.Helen encouragedeveryonetothinkaboutglimmerswhicharetinysparksofjoy thatappearinordinarymoments.

Alargepartofthesessionwasinteractive.EachtablereceivedaJoy Basketfilledwithsensoryobjectschosentosparkconversationandreflection. Itemsincludedfeathers,softfabrics,thingsfromnature,colourfulobjects,and playfulitemsthatencouragedcuriosity.Tablefacilitatorsusedpromptsto helppeopleexplorewhatjoymeansforthem.Basketswererotatedwhich createdlaughter,animateddiscussion,andunexpectedmomentsof connection.Manyadultscommentedonhowrareitistobeencouragedto slowdownandplay.ThesessioncontinuedwiththecreationofaJoyMural. Attendeeswereinvitedtoaddadrawing,word,orsmallmessagedescribing somethingthatbringsthemjoy.

Peoplesharedhowliberatingitfelttothinkaboutjoywithoutfeelingtheneed tojustifyit.Theroomheardreflectionsaboutadulthood,responsibility,and theimportanceofsilliness Manysaidthesessionhelpedthemnoticethe smallthingsthatlifttheirdayandenjoyedthesenseofcommunitythat emergedthroughsharedstoriesandgentlehumour.

Thesessionclosedwithareminderthatjoydoesnotremovethe challengesoflivingwithanIMD.Itsitsbesidethem.Smallmomentscan makearealdifferenceandreconnectpeopletohope,connection,and asenseofself.

HelenMorris,SupportandAdviceManageratMetabolic SupportUK,andKirstyDarling,ClinicalNurseSpecialistat BirminghamWomen'sandChildren'sHospitalleda practicalandinsightfulsessionfocusedontherealitiesof managingprescriptionsandhomecarewithinIMDs. Drawingonsurveyfindingsandlivedexperience,the sessionexploredhowfamiliesmanagecomplex prescriptions,howhomecaredeliveryworks,andwhat canbeimprovedacrossteamsandservices.

AimsoftheSession

Understandchallengesinhomecare

Explorehowtomanageprescriptionsandservicessafely Makethemostofcollaborationbetweenmetabolicteams,pharmacies, andhomecareproviders

Helenexploredhowfamiliescurrentlyaccessprescriptions.Mostcollected itemsfromlocalpharmacies,whileothersusedhomecaredeliveryorrelied onacombination However,delaysanddifficultieswerecommon Families reportedstockshortages,changesinmanufacturing,missingitemssuchas syringes,andGPrefusaltoprescribeduetocost.Somehadexperiencedday longwaitsfordeliveriesorunpredictablechangesindeliverytimes,whichis particularlychallengingwhenmanagingmultipleprescriptionsfromdifferent providers.

Kirstygaveanoverviewofwhathomecaremedicationdeliveryinvolves, Firstly,outliningtheprocessfromprescriptioncoordinationanddispensing throughtodeliveryandfollowup.Thespeakersalsoeducatedtheaudience onthetypesofmedicationhomecarecandeliveranditsbenefits,which includereducedhospitalvisits,improvedadherence,personalisedsupport, andincreasedprivacy.However,thespeakerswerekeentoobservethat homecareisnotperfectandcancomewithchallengesthatinclude temperaturecontrolforcertainmedicines,coordinationacrossteams,limited availabilityinruralareas,andthelogisticaldifficultyofstoringlargeamounts ofmedicationdeliveredatonce

rsty rling ussing mecare

The sessionclosedwithagroupdiscussionwherefamiliesdescribedtheir dailyroutinesandsharedpracticalsolutions.Peopleraisedconcernsabout shortexpirydates,difficultyaccessingsucrosefreemedicinesforHFI,large numbersofdailydoses,andtheneedforclearercommunicationbetween GPpractices,pharmacies,andhomecareproviders.Otherssharedpositive experienceswherehomecarereducedstressorpreventedemergency hospitalvisits.HelenencouragedeveryonetoreportissuessoMSUKcan escalatethemandworktowardssystemlevelimprovements

KeyTakeaways

Delays,stockissues,andprescriptionrefusalare commonchallengeswithhomecare

Familiesshouldfeelempoweredtocontacthome careprovidersdirectly

Clearcommunicationbetweenmetabolicteams, pharmacies,andhomecareservicesisessential

My life lived well: carl lander

CarlLander,Co-ChairofMetabolicSupportUK,offeredapowerfulreflection onwhatitmeanstolivewellwithararecondition Hismessagecentredon resilience,purpose,andtheideathatlifewithararediseasecanbefullof opportunityandachievement.DrawingonhisexperienceofPyruvateKinase (PK)deficiency,Carlusedhisstoryasoneexampleofhowpeoplefindways toadapt,grow,andthrivedespiteongoingchallenges.

Carlhighlightedseveralthemessharedacrosstheraredisease community Diagnosiscantakeyearsandearlylifemayinvolve uncertaintyandcomplextreatment.Yetmanypeoplebuildcareers, families,friendships,andfulfillinglivesalongsidetheircondition.He spokeabouttheimportanceoffindingjoywherepossible,staying involved,learningnewskills,andusinglivedexperiencetocontributeto ering,oradvocacy.

soneofoptimism. eansrecognising owcanbebetter.

MetabolicSupportUK ewasclear.Lifewitha ndjoy Evenonhard

carl lander, cochair, board of

trustees

Hereditary fructose intolerance (hfi) community meet-up

(breakout session)

Forthefirsttime,peoplelivingwithHFI cametogether inpersontoshareexperiences,meetotherswho understoodtheirlives,andbuildthefoundationsofanew supportnetwork.Thisdedicatedsessionwasintentionally leftprivate,givingparticipantsthefreedomtospeakopenly abouttheirlives,challenges,andhopesforthefuture. Severalattendeessharedthattheyhadnevermetanother personwithHFIbeforethisday,andonecommentedthat afterfifty-oneyearstheywerefinallymeetingtheir“tribe.”

attendees, hfi community meet up

Themeetingbeganwithintroductionswhichquicklyrevealedtherangeof experienceswithinthegroup.Familiesspokeaboutmisseddiagnoses,medical misunderstandings,andyearsofexplainingsymptomsthatweredismissedor misunderstood.Othersdescribedlongjourneystofindinformation,withsome discoveringtheconditiononlythroughpersonalresearchratherthanclinical guidance.Hearingthesesharedexperiencesforthefirsttimebroughta powerfulsenseofvalidationandrelief.

Astheconversationcontinued,peopleexchangedpracticaladviceondiet, symptoms,emergencycare,andtherealitiesofnavigatinghealthcare systemsthatoftenlackknowledgeofHFI.Severalspokeabouttheimportance ofcleandiets,thedifficultyofobtainingcorrectformulaormedication,and theneedtochallengeincorrectclinicaladvice Parentssharedstoriesof fightingfordiagnoses,advocatingfortheirchildren,andtheemotionaltollof beingdismissedbyprofessionals.

Despitethesechallenges,thestrongestthemewashope Participantsreflectedontheimportanceofconnection,thevalueoflearning ngth.Wordsusedto onnection,”and talone mation,andexploreways morethanameeting It fordecades,anda andtheirvoicesare

discussion: hfi community meetup

propionic acidaemia (pa) & methylmalonic acidaemia (mma) community meet up (breakout session)

EducationalPresentationonthebiologybehindPAand MMAandfuturetreatment:

ProfessorYap,ConsultantinMetabolicMedicineatSheffieldChildrens’sNHS Trustdeliveredafullanddetailedsessiontailoredtothegroup.Sheexplained wherePAandMMAsitwithinaminoacidbreakdownpathwaysandhowtoxic metabolitescandisruptmultiplesystemsincludingtheTCAcycle,ureacycle, fattyacidoxidation,andlacticacidpathways.ProfessorYapalsodiscussed longtermtreatmentwithcarglumicacid(NCG),sharingevidencefromcase reports,singlecentrestudies,internationalcohorts,andthefirstrandomised controlledtrial. This1-hourbreakawaysessionbroughttogetherasmall groupofPAandMMAfamilies,includingonepersonjoining online SarahJones,CommunitiesLeadatMetabolic SupportUKandKirstyDarling,ClinicalNurseSpecialistat BirminghamWomen’sandChildren’sHospitalwelcomed attendeesandsupportedintroductions.

GroupDiscussion:

AparentcarersharedherexperienceofcaringforachildwithsevereMMA,now astableteenagerfollowingyearsofintensivemanagementandanadultliving withMMAspokeaboutnavigatingmildersymptoms,feelingoverlookedwithin adultservices,andfacinglimitedlong-termsupport.

Thegroupalsoexploredlivedexperience,gapsinclinicalcare,variationin dieteticsupport,andtheimportanceofaccuratecalorieandprotein measurement.Adultserviceprovisionandemergencyplanningwerekey themes,alongsidefrustrationaboutinconsistentadviceandlimitedspecialist understanding Participantsreportedthatclearerspecialistsupportandcorrect dietarymeasurement,alongsideNCGwhereappropriate,canimprovestability andreducehospitaladmissions.

Thesessionhighlightedthatguidelinescanlagbehindemergingevidence,and thatclinicaljudgementandcentrelevelknowledgevarywidely Parentsand adultsemphasisedtheneedforbetterdieteticguidance,strongeradultservice support,andimprovedemergencyplanning.Thegroupexpressedinterestin stayingconnectedandbuildingaPAandMMAcommunity,withMetabolic SupportUKcommittedtosupportingfutureconnectionandinformation sharing.

Homocystinuria (hcu) Community Day (breakout session)

AspartofourAnnualCommunityConference2025,we hostedafirst-of-its-kindintheUK,dedicatedHCU CommunityDay.Thedaywaswellattendedbyjustover20 peopleandincludedamixofeducationaltalks, workshopsandinteractivepaneldiscussions.Attendees leftwithanincreasedfeelingofconnectednessandexcited bythenextstepsannouncedbyMetabolicSupport,includinga newHCUambassadorscheme.TheHCUCommunityDayopened withawelcomefromDanaeBartke,ExecutiveDirectorofHCU NetworkAmerica,whosetthecontextforthedayandhighlighted thevalueofglobalcollaboration.

HCUExplained:TheScienceBehindHCUandEvolvingTreatments

Thefirstsession,deliveredbyDrAndrewMorris,providedanoverviewofthe metabolicpathwayunderlyingclassicalHCU,misdiagnosis,newbornscreening anddiagnosticchallengeswerediscussed,includingthecurrentrelianceon methioninemeasurement,whichdoesnotidentifyallindividualswithHCU TreatmentoptionswerealsoexploredindetailandDrMorrishighlightedthat phasethreetrialsareindevelopmentandthatlongtermaccessmaybe influencedbyaspectssuchastheNHS’abilitytoaffordnewtreatments

Followingthepresentation,LauraSmithvanCarroll,HeadofInsightand AdvocacyatMetabolicSupportUK,facilitatedagroupdiscussion,buildingonDr Morris’sessionandusingsectiontopicsoftheinternationalHCUguidelinesto guidediscussions.

Participantsexploredhowtreatmenttargetsaresetandquestionedwhat successshouldlooklikebeyondbiochemicalnumbersalone.Familiesdiscussed thechallengeofbalancingstrictmetaboliccontrolwithqualityoflife,particularly whentargetsfeeldifficulttoachieveormaintainovertime

Therewasalsoastrongfocusondietarymanagement,withfamiliesdescribing thepracticalandemotionalburdenofmanaginglowproteindietsinschooland socialsettings,alongsidethefinancialimpactofspecialistproducts Participants sharedexperiencesofnavigatingfoodlabels,ultraprocessedfoods,andthe varyingusefulnessofappsandtoolstotrackproteinintake.Inconsistentdietetic supportacrossregionswashighlightedasasignificantconcern,withworries b tth l t ff t fdi t t ictionwhenguidanceislimitedor

Mentalhealthandemotionalwellbeingwerecentral tothediscussion,withanxietyandstresscommon acrossagegroups.Parentsandadultsspokeabout disorderedeatingpressuresduringadolescence,the desiretofitinwithpeers,andtheemotionalimpactof feelingdifferent.

Lossofsupportaftertransitiontoadultserviceswas repeatedlyraised,alongsidetheneedforstronger psychologicalinputandmoreconsistentmultidisciplinary teamsupport.Transitionitselfwasamajortheme,with participantsquestioningwhethercurrenttransitionagesare appropriate Manyfeltthattransitioncloserto21oreven25would betterreflectdevelopmentalreadiness,andseveraldescribedfeeling unsupportedoncetheyenteredadultcare,reinforcingtheneedformore flexibleandbettercoordinatedtransitionpathways.Duringtheworkshop debrief,communityconnectionwasrepeatedlyhighlightedasapositive outcomeofthesession.

AsktheExperts:HCUCareatEveryAge

Ask the eXPERTS SESSION: hcu care at every stage

Afterlunch,wekickedofwiththe“AsktheExperts”session,whichbrought togetheramultidisciplinarypanelincludingProfessorSufinYap(Honorary ConsultantPaediatricianinMetabolicMedicine),CharlotteEllerton(Specialist PaediatricDieteticPractitionerinMetabolics),AnneDaly(SpecialistAdult DieteticPractitionerinMetabolics),DrAndrewMorris(PaediatricConsultantin MetabolicMedicine),andDrCharlotteDawson(AdultConsultantinMetabolic Medicine).ThesessionwaschairedbyDanaeBartkeandattendeeswereasked toshareanyquestionstheymighthaveforthediversepanel,including questionssubmittedvirtually.

AcentralthemewastherevisionofinternationalHCUguidelinesandhow patientexperiencecanbeincorporatedtobetterreflectlivedexperiencewithin aprocessdrivenbyscientificevidence.Panelmembersacknowledged significantgapsintheliteraturerelatingtolivedexperienceandencouraged patientsandfamiliestocontributethroughcasestudiesandresearch participation.

Emergencycarewasamajorconcern,withmanyparticipantsdescribing situationswheremetabolicteamswerenotconsultedduringhospital admissions,particularlyinadultservicesorwhenpresentingwithnonmetabolicissues.Cliniciansrecognisedthisasarealandongoingproblem, notingthatlackofmetabolicinputcanleadtodeterioration

Transitionfrompaediatrictoadultserviceswasagaindiscussedextensively., withfamiliesdescribingfeelingdroppedatthepointoftransition,withreduced monitoringandfragmentedcare.Variationinmonitoringpractices,useofdry bloodspottesting,dietarymanagement,andfollowupinadulthoodwerealso explored.

HCUNetworkAmerica,Awareness,Advocacy,and

ThefinalsessionfocusedontheworkofHCUNetwork Americaandtheroleofawareness,advocacy,and communityleadership.DanaeBartkeoutlinedthe organisation’sglobalactivitiesandintroducedHCU Championstoempowerindividualsandfamiliestoshare theirstories,raiseawareness,andadvocateforbettercare.

AkeypartoftheHCUNetworkAmericasessionwasalived experiencepaneldiscussion.Speakersdescribedtheemotional shockanduncertaintyfollowingdiagnosis,particularlyintheearly dayswhenfamiliesfacecomplextreatmentplans,multiplemedications,and strictdietaryrequirements.Whilethisperiodcanfeeloverwhelming,many reflectedthatovertimeHCUbecomesintegratedintodailylifeandroutines. Differencesbetweennewbornscreeningandlaterdiagnosiswerehighlighted, withearlydiagnosisdescribedasfrighteningbutultimatelyreassuringonce treatmentandspecialistsupportwereinplace.Adultsdiagnosedinearlier decadesreflectedongrowingupwithlimitedaccesstopeersupportand information,oftenrelyingheavilyonfamilyandclinicalteams

ThepanelalsoexploredthesocialandemotionaldimensionsoflivingwithHCU, includingfeelingdifferentatsocialevents,navigatingschoolandfriendships, andthedesiretofitin Arecurringthemewasthelackofavisible,connected HCUcommunityintheUK,withseveralspeakerssharingthatitwastheirfirst timespeakingopenlyaboutHCUinagroupsetting.Thevalueofpeer connection,sharedexperience,andinformalsupportwasstronglyemphasised, reinforcingtheimportanceofcreatingsafespacesandstrongercommunity networksalongsideclinicalcare

NextSteps

Thedayconcludedwithapowerfulsharedcommitmenttochampioning community,elevatingthepatientvoice,anddrivingmeaningfulprogressforthe HCUcommunity.Buildingonthismomentum,wewilllaunchanewHCU AmbassadorScheme-adedicatedinitiativedesignedtobroadenourreach, deepenengagement,andcreategenuineopportunitiesforpeoplewithlived experiencetoshapeourwork.

Throughthiscollectiveeffort,weaimtotransformawareness,strengthensupport, andaccelerateimprovementsincare.Together,weareturninginsightintoaction andpavingthewayforlasting,positivechangefortheHCUcommunity.

Rare Bone Disease Network: Full Day Workshop Overview (breakout session)

TheAdultRareBoneDiseaseNetwork(ARBDN)delivereda fulldayprogrammemadeupoffiveconnectedsessions, bringingtogetherclinicians,alliedhealthprofessionals, charities,industrypartners,andpeoplelivingwithrare boneconditions.Acrosstheday,twenty-fourparticipants engagedinopendiscussion,practicalworkshops,and sharedlearning Theprogrammewasdesignedtomove fromunderstandingpriorities,throughshapingnational measures,todefiningpracticalnextstepsforimprovingcare, training,andsupport.

OpeningandUnderstandingWhatPeopleWant

Thedayopenedwithawelcomeledbyco-chairs,ThinesGaneshamoorthy, (PatientAdvocateandTrusteeatBrittleBoneSociety)andProfessorKassim Javaid,(ProfessorOsteoporosis&RareBoneDiseases).Thisintroductorysession focusedonunderstandingwhowasintheroomandwhatattendeeswanted theARBDNtoprioritise Participantshighlightedtheimportanceofmeaningful qualitymeasures,improvedtransitionpathways,betteruseofdataand registries,strongercommunitybuilding,andclarityaroundnextsteps.Thetone wascollaborativeandsetasharedintentionforhonestdiscussionthroughout theday.

Vision,ProgressUpdate,andDraftKeyPerformanceIndicators

Thesecondsession,ledbyProfessorJavaid,setoutthevisionandpurposeof theARBDNandprovidedanupdateonprogresstodate Acentralfocuswasthe developmentofnationalKeyPerformanceIndicators(KPIs).Discussion highlightedthatexistingnationalmeasuresdonotreflecttherealitiesofrare bonediseasecare Surveyfindingsfromcliniciansandpatientsreinforcedthe needforbettercontinuityofcare,accesstotherapyservices,clearer communication,andconsistentfollowup.ParticipantsbeganshapingdraftKPIs thataresimple,meaningful,andfeasibletocollect,withastrongemphasison patientexperiencealongsideclinicaloutcomes

KPIGroupExcercise

Buildingontheearliersession,participantstookpartinapracticalgroup exercisetoexplorehowproposedKPIscouldworkinpractice.Groupsdiscussed whatgoodcarelookslike,howindicatorscouldbeimplementedinthefirstyear, andhowresultsshouldbeused Keythemesincludedpersonalisedcareplans, conditionspecificchecklists,useofbestpracticeguidelines,andqualityoflife measuressuchasEQ5D.TherewasstrongagreementthatKPIsshouldsupport improvementratherthanbepunitive,andthatfirstyearimplementationshould besmallscaleandachievable.

TrainingUpdateandCapabilityBuilding

Thefourthsessionfocusedontrainingandskills developmentacrosstherarebonepathway. Contributionsfromapatientadvocate,NivedaKiridaran andaclinicaltraininglead,DrNeelamHassan,highlighted significantgapsinprofessionaleducationandpatient empowerment Livedexperiencereinforcedthe importanceofcommunication,transitionsupport,and confidencebuilding.Datasharedontraineeexposure showedlimitedexperienceofrareboneconditionsacross theworkforce.Groupdiscussionsidentifiedprioritiesfor cliniciantraining,alliedhealthprofessionaleducation,and patientself-advocacy,alongsidetheneedfora coordinatednationaltrainingframework

NextSteps:Clinician,Patient,andCaregiverPerspectives

niveda kiridaran, patient advocate living with oi

Thefinalsessionbroughtclinicians,patients,andcaregiverstogetherto identifyactionablenextsteps.Discussionsfocusedonimprovingpatientvoice inacutecare,addressingtraininggapsfortherapists,increasingearlycareer exposure,strengtheningrightsawareness,andreachingunderrepresented communities.Practicaltoolssuchashospitalpassports,traininghubs,and advocacyresourceswereexplored.Thedayclosedwithacommitmentfrom ARBDNleaderstoturndiscussionintoaction,withoutputsfeedingintothe steeringcommitteeandfutureworkstreams

KeyTakeaways:

Thenetworkisbuildingmomentumtowardsnationalstandardsforrare bonediseasecare,shapedbybothclinicalandlivedexperienceinsight CurrentnationalKPIsdonotcaptureoutcomesorpatientexperience,and newindicatorsmustbemeaningful,measurable,andfeasible Priorityareasforimprovementincludecontinuityofcare,communication betweenservices,accesstophysiotherapyandpainsupport,andurgent expertadvice

EarlyKPIideasfocusedonpersonalisedcareplans,conditionspecific checklists,guidelineuse,andannualqualityoflifemeasuressuchasEQ5D Traininggapsaresignificantacrossthepathway,particularlyfortrainees, therapists,dentists,andalliedhealthprofessionals

Patientempowerment,rightsawareness,andself-advocacysupportwere viewedasessentialpartsofimprovingoutcomesandexperience

Practicaltoolssuchashospitalpassports sharedtemplates,andacentral

attendee feedback:

Thetopicscoveredtodayaresoimportant,thisisoureverydaylives Thisisnotjustaconference;forsome,itmaybethefirsttimethey meetsomeonewiththesamecondition.

I’dliketothankMSUKforthewonderfuleventandtheirkindnessand compassionensuringthatpatientsvoiceshavebeenthecentre.It’s beensorefreshingtohavesuchopenandhonestconversations

Everybody is welcome

Ourcommunityconferencewascuratedtoensureeveryonefeltwelcomeand included Fromarobustagenda,tochild-friendlyseatingandactivities, accessibility,dietaryconsiderations,travelsupport,andanalways-manned welcomedesk

Travelbursariessupportourcommunitytoattendbyremovingadditional financialworries,justoneofthebarrierstoaccesstheymayface.Ourtravel bursariessupportednineteenpeopletoattendthatotherwisemayhave struggled,orbeenunable,toattend

ThankyoutoKyowaKirinforfundingthetravelbursarygrantfortheRareBone DiseaseNetworkattendees

WeworkedcloselywiththevenueandDalvinderHellawell(PaediatricDietitian) andtheteamfromNutrition&DieteticDepartmentatBradfordTeaching HospitalsNHSFoundationTrust,tocreateadeliciousmenuthroughouttheday.It isimportantthateachpersonattendingoureventfeelswelcomedandincluded, andprovidingsuitableandsafefoodoptionsisanintegralpartofthisforour communitymemberswhofollowspecialiseddiets Aswithallareaswetake feedbackonthistopicseriouslyandalwaysstrivetoimproveourprovision

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