msuk 2024
kiRSTY HOYLE, CEO
LivingwellforourIMDcommunity,forallofus,is helpedbycomingtogether,sharing,andbeing amongstpeoplewhounderstand.
Thisyear’svenuewasaversatilespacewhich allowedformorespeakersandcondition-specific sessions.Wehopeourconferencegavepeoplethe chancetobeheard,tolisten,andtofeelconnected. Thankyoutoeveryonewhoattended,helpedout, sponsored,andsupported.
OVERVIEW
OnSaturday9thNovember2024,wehostedourannual CommunityConferenceattheStudioinBirmingham Thedaywasattendedbyover100peoplerepresenting awiderangeofourcommunitymembersincluding peoplelivingwithaninheritedmetabolicdisorder(IMD), familymembers,friends,andhealthcareprofessionals, plusrepresentativesfromAlexion,AspirePharma(Gold sponsors)andiECURE(Silversponsor)joiningusforthe day.
Wehadajam-packedagenda,givingourcommunity thetimetomeetandconnect,participateininteractive activities,whilealsosharinginformationaboutsomeof ourservices,livedexperiences,ourlatestprojects,and recentresearchdevelopments.
November 2024
Connectingand StrengtheningourIMD community
Peoplelivingwith anIMDandtheir families,metabolic healthcare professionals,and industry
ThedaywasopenedbyPaulCox,Co-Chairof MetabolicSupportUK,andKirstyHoyle,CEO ofMetabolicSupportUK,welcomingtheIMD communityandgueststothe2024Annual CommunityConference.
session 1: Financial Support Workshop
HelenMorris,MetabolicSupportUK’sSupportandAdviceManager,started ourfirstsessionofthedayonakeytopicformanywithinourcommunityFinancialSupport. Helengaveaninformativeoverviewofthetoolsandbenefits available;helpingattendeesrecognisetheirentitlements,understandthe processesinvolved,andbustsomemyths!
JonathanGibson,MetabolicSupportUK’sCampaignsLeadcontributedtothis sessionandsharedhowMSUKusecommunityinsighttorespondtoconsultations, suchasarecentDepartmentforWork&Pensionsconsultationonpersonal independencepayments(PIP),toensurethevoiceofpeoplelivingwithanIMDis represented.Healsosharedhowwekeepourcommunityupdatedonpolicy changesandourupdateonthe2024AutumnBudget.
Maintopicsofthesessionwere:
HowdoIfindoutwhatamIeligiblefor? WhatGovernmentandotherfinancialsupportisavailable? WhatdoIneedtothinkabout?
WherecanIgetfurtherinformationandsupport? Learningfromourcommunitywhattheyneedfromus
Takeawaymoments-Didyouknow?
Benefitcalculators-online,easytouseandcoverallcircumstances
DLA&PIParebasedonhowmuchSupport,Prompting,andSupervisionthe personneeds PIPisfrom16yearsoldtostatepensionage
DLAisfast-trackedfornewbornswhohavebeengiven12monthsorlesstolive Carer’sAllowanceandAttendanceAllowancearedifferentbenefits MSUKhasaBenefits&MoneyManagementresourceonourwebsite
Session 2: Genetics & genomics
PhilandraCostello,GenomicsLeadNurseforCentral& SouthGenomicsMedicineServiceAlliance(GMSA)and TonyThorburn,ChairofBehçet'sUKandAlliance NetworkChair(PPI/PPV),Central&SouthGenomic MedicineServiceAlliancepresented:Genomics&You, whataregenomics,andhowdotheyfeedintodiagnosis andtreatment?
Thisfactualsessionopenedwithaninteresting introductiontogenomicsanditsrolein healthcarethroughtheNHSGenomicMedicine Service.Informationwassharedonregional centresandcentresofexcellencetoimprove access,streamlineservices,andtrainingfor healthcareprofessionalstointegrategenomics intotheirpractices.
TheintegrationofpatientandpublicinvolvementintotheGenomicMedicine Servicewasdiscussed.An8-steptaskplantoestablishthefoundationsofthe PatientParticipationandInvolvement(PPI)strategywasshared.Thisis currentlyatTask6,"PublicAwarenessCampaign",towhichthepresentationat ourconferencescontributed.
Finally,thesessiontouchedontheintegrationofartificialintelligence(AI)into thegenomicsworkstreamandtheimportanceofbuildingpatientandpublic trustingenomic-basedAIclinicaldecisions.Adetailedpatient=pathway includingAIapplicationswaspresentedtogivepeopleanimpressionofhowAI maycontributetotheircare.
Keymoments
RapidAdvancements:Genomictoolsareevolvingquickly,withmeasurable impactsondiagnosisandtreatmenttimelines
Challenges:Ashortageofinterpreters,logisticalconstraints,andtheneed fornationalstandardisationremainbarrierstoovercome
Inclusion:Patientvoicesandmultidisciplinaryapproachesarecentralto ensuringgenomicsisaccessibleandeffectiveforall
TheFuture:Integrationofgenomicsintoroutinecare,combinedwith publiceducationandprofessionaldevelopment,isessentialfor long-termsuccess
Session 2: The generation Study
DrDavidBick,PrincipalClinicianfortheNewborn GenomesProgrammeatGenomicsEngland,spokeabout TheGenerationStudy,whatitis,howitlinkstonewborn screening,andwhatimpactitmayhaveonthefutureof diagnosticsandhealthoutcomes.
ThecurrentNHSnewbornbloodspottestscreensfornine conditions,includingsixIMDs.DrBickexplainedthatGeneration studyuseswholegenomesequencingtoscreen 100,000newbornsforover200rare,treatableconditionsincluding99IMDs.
DrBickprovideddetailedinsightsintothestudy’smethodologyand objectives,explaininghowgenomicdatacouldimproveearlydiagnosisand outcomesforrareconditions.Hesharedkeystatistics,notingthatwithover 590,000babiesbornannuallyintheUK,thisexpandedapproachcould benefitaroundninebabiesaday.
The session also covered the study’s goals:
Toassesswhethergenomicscreeningcanenhanceexisting newbornscreeningprogrammes.
Tosupportthedevelopmentofnewtreatmentsanddiagnostic methodsusinggenomicdata.
Toaddressethicalandpracticalconsiderationsaroundstoring genomicdataoveralifetime.
DrBickdiscussedthepracticalimplementationofthestudy,currentlyrunningat 14hospitalsacross10NHSTrusts,withplanstoexpandto40Trusts.Participating familieswillreceiveactionablefindingsandcontributetoresearchthatcould shapefuturehealthcare.
Throughoutthesession,DrBickemphasisedthepotentialimpactof genomicsonhealthcaredelivery,engagingattendeeswithexamplesofhow thestudycouldintegrategenomicscreeningintoroutineNHSpractice.The presentationsparkedthoughtfuldiscussionaboutthebenefits,challenges, andfuturepossibilitiesofgenomicmedicine,makingitastandoutpartofthe conferenceprogramme.
Session 3: Who is Who in IMDs
LauraSmithvanCarroll,MetabolicSupportUK’sHeadofInsightand Advocacyopenedthesessionandintroducedthepanelists:Brad,Naomi, andReena- BradleyDickerson,VicePresidentofProjectManagement& PatientAdvocacyatiECURE,NaomiLitchfield,DirectorofPatient AdvocacyatBionicalEmas,andDrReenaSharma,ConsultantatThe MarkHollandMetabolicUnit,SalfordRoyalHospitalandMSUKTrustee. ApologieswerereceivedfromHelenChamberlain,ScientificAdvisorat NICE,whowasalsoduetoappearinthissession.
Laurasetthestagedetailingsome ofthestakeholdersinvolvedinthe livesofpeoplelivingwithanIMD, fromtheirfamilyandcommunity, tohealthcareprofessionals(HCPs), researchersandregulatory agencies.
Thesubsequentpaneldiscussionwasbased onamixoflivequestions,anonymous questionsviaaQRcodeandpre-submitted questions;whichallowedparticipantsthe freedomtoaskandpreparequestionsattheir ownleisureandcomfortlevel.
Keytake-aways
Patientorganisationsarekeyinbridgingthegapbetweensponsors, HCPsandcommunities
Communitiesneedtobeinvolvedindrugdevelopmentasearlyas possibleandcanimproveapprovalandreimbursementchances Trialresultdisseminationneedstobeimprovedandincorporatedfrom theearlystagesoftrialdesign
Thepotentialbenefitsanddrawbacksofaclinicaltrialshouldalwaysbe carefullyconsidered
Discusstrialoptionsandexperienceswithdifferentinvolvedparties, e.g.HCPs,othermembersfromthecommunityandMSUK Inclusivityofclinicaltrialskeyconsideration,including: translations,translator,reimbursement,hybridoptions Mentalhealthoftenkeycomponentoverlookedinclinical trials:paediatriccentresoftenoffermorerobustsupport
Session 4: Real People, Real Lives
ThefourthsessionwashostedbyToniMees,MetabolicSupp y LeadandfeaturedKellyVickers-Earll,mothertoayoungboylivingwithCreatine TransporterDeficiency.
Toniopenedthesessionanddiscussedwhatitmeanstolivewellwitharare disease,MSUK’s2023ThoughtsintoActionreportonqualityoflifeandintroduced theLivingWellmovement,inspiredbytheresearch Tonisharedthatthemovement isdesignedtosupporttheIMDcommunitytolivewelleveryday,‘ ...that’sthething aboutthelivingwellmovement;you’realreadydoingit’’.
Kellytookthegrouponajourneythroughherson’sdiagnosisandherfamily’s experiencesoffindingtherighteducationprovisions,siblingadvocacy,and community.Kellyspokepassionatelyontheneedforsocietytobemoreinclusive remindingtheattendeesthatourcommunityandtheirneedsarenottheproblem, societyis;“Itshouldnotbethechildrenoradultswhohavedisabilitiesthat shouldtryandfittowhatisclassedasnormalsocially,everyoneshouldbe accepted’’.
Kellyhighlightedthatwhilstthereisn’tatreatmentforherson’sconditionandthere arestillchallenges,theyareinagood,happyplace Theyarethriving,withlifewith anIMDbecomingtheirnorm.Herstoryresonatedwiththeroom,causingbothtears andlaughter;andalivelyroom-widediscussionaboutthepointsofchangein eachperson’slives.
Thedayfeaturedacarouselpresentationofcommunity member’srecentwins,submittedaheadoftheconference Fromstayingpositiveduringhardtimes,totryingnew things,andlearningnewskills Togetherwecelebrated theeverydayandtheextraordinary.
tional collaborationandfocusedworkwithhospitalsidentifiedthroughtheanalysisof datafrom69FreedomofInformationrequestssenttoUKhospitalsto understandcurrentammoniatestingpractices
The Metabolic Advisory Council
“Doitforthecollective”-MACMember
OurbespokeMetabolicAdvisoryCouncil(MAC)isanexpert groupofpeoplewitharangeofpersonalexperienceof InheritedMetabolicDisorders.Thisdiverseandhonestgroup inputsonourworktoensurewe’retrulyreflectingand centringtheneedsofthepeopleweworktosupport.
Fivememberscametogetherforanin-personmeetingforthefirsttime atour2024AnnualCommunityConference.Thissessionwasanopportunityfor memberstomeeteachother,reviewtheirtimeintheMAC,prepareforupcoming projects,andimpactthefutureoftheirroles.Themeetingwasalsopartofaninsight projectofferedtoourGoldsponsors.
Ourevent’sGoldSponsorshadtheopportunitytoposeaquestionoftheirchoiceto thisspecialisedandknowledgeablegroupviaourcomprehensivemethod.
PatientRecordedOutcomesMethodsandExcipientsaretopicsfor2024;introduced attheconference,followedwithdetailedinformationpost-conferenceleadingtoa dedicatedfocusgrouptodiscussthetopicsindepth.Thefocusgroupculminatesin awrittenreportfortherespectiveGoldsponsors.
Get in touch to sponsor a session or choose a topic for discussion at our November 15th 2025 Community Conference
What’s next for the MAC?
Thisgroupbringsawealthofpersonal,andprofessional,knowledge,skills, andlivedexperiencandareeagertoincreasetheirinvolvementinformingprojectsat MetabolicSupportUK.
Overthepastyeartheyhavebeeninvolvedinmuchofourdailywork,including shapingourResearchReadyHubande-modulesalongsidequalityassuranceand testing.Theirreachextendstoexternal,andeveninternational,impact;attendingan up-skillingworkshoparoundNICEAssessmentsandaninternationalconditionspecificadvisoryboardalongsideresearchers,medicaldoctors,nutritionistsandother advocates,andmuchmore.
GA1 Community Afternoon
AnneDaly,SeniorSpecialist
IMDDietitianfrom BirminghamChildren's Hospital,workedin partnershipwithMetabolic SupportUKtoarrangethe GA1communityafternoonin aseparatebreak-outroom.
Thesessionwasattendedbymorethan30membersoftheGlutaricAciduriaType 1(GA1)community,including14communitymembersjoiningremotely.Annewas pivotalinorganisingthesession,arranginginsightfulspeakersandcoordinating theinvitationsfortheGA1community.
ProfessorAhmadMonavariMBChB,DCH,MRCP(UK),FRCPCH,FFPeadsRCPI
ClinicalDirectoroftheNCIMDandCo-founderofISIMD,startedtheafternoon sessionbytakingattendeesthroughabackgroundonGA1andanoverviewofthe workandresearchattheNationalCentreforInheritedMetabolicDisordersChildren’s HealthIreland Hesharedabouttheareasofdiagnosis,clinicalpresentation,aswell asmanagementthroughdietarymodificationsandemergencytreatmentplans.Prof Monavarialsopresentedfourexamplesofacasestudyofclinicaleventsoccurring aftersixyearsofage,fromaretrospectivechartreview,between1983-2020.
Keytake-aways
GA1iscausedbydeficiencyof themitochondrialenzyme
glutaryl-CoAdehydrogenase (GCDH)
Worldwideincidenceof1in
110,000
GA1pathwayoccurrsmainlyin thebrain&liver
PartofNewbornScreening
Attendeeswantedtoknow...
HowcanIbeconfidentin managingthedietsafely? Howmanycaseshaveyou seenwerethegenehasbeen passedonspontaneouslyfrom oneoftheparents?
Ifourchildhasnothad imagingdoneyet,wouldyou recommendwerequestthis?
SarahCawtherley,MetabolicDietitian,spokeabouttheimportanceofdiet beingakeyfactorinmanagingGA1andpresentedfindingsfromarecent researchstudy.JoinedbyMarjorieDixon,ClinicalLeadDietitianatGreat OrmondStreetHospital,andAnneDaly,thesessionmovedontodiscuss dietaryneedsandansweredquestionsaboutdietfromattendeesin theroomandthoseattendingonline.
UCDs Unlocked
Inparalleltothemain programme,wedelivereda hybridbreakawaysession fortheUreaCycleDisorder (UCD)communitywith severalin-personandonline attendees.
DrSonamGurung,ClinicalPostdoctoralResearcheratGreatOrmondStreet InstituteofChildHealth,gaveanoverviewoftheircurrentworkonmRNA therapiesforthetreatmentofASAincollaborationwithModerna.Sonamcovered somekeydifferencesbetweenmRNAtherapyandothergenetherapies,including thedifferenceofsinglevsrepeatedadministrationneeds,highlightingthe promisingsignsshehasseeninherwork.
Sonamwentontoexplainpotentialnextsteps;afollow-upsafetystudyandthen testingifthistreatmentcanbeusedinotherconditions,runningalong-termclinical studytoexplorethelong-termeffectivenessofthismethodology.Sonamiskeento dootherresearchwithresultsfeedingintoconditionssuchashyperammonaemiaor along-termclinicalstudyonneurologicalconditions.
DespiteextensiveworkinASA,thiseventwasSonam’sfirsttimemeetingafamily livingwithASA.Theseeventsarenotjustvitalforconnectingfamilieswitheachother, butalsoforconnectingthemwithresearchersandstakeholdersthatmaydirectly,or indirectly,impacttheirlives.
Roundtablediscussion
Participantshighlightedtheneedforgoodqualityammoniatesting
AttendeessharedthattheyoftenunderstandtheirconditionbetterthantheirHCP
Participantshighlightedthattheirconditionismanagedbyutilisingaspecialised low-proteindietandammonia-scavengingmedications
Thepoint-of-caretestforhighammoniawasmentioned Thisisindevelopment andhasahighercut-offvaluethanpreviousPOCtestingplatforms,meaning doctorsmaybeabletousethistoeasilyandaccuratelymeasureammonia levelsonthewards.
INTERESTED IN HOW WE
conference feedback
Allconferenceattendeeswereaskedtoprovidefeedback.Wecollected feedbackusingapre-designedquestionnaire,whichwasalsoincluded inourconferenceprogramme.Atotalof24attendeesresponded.
Theconferencereceivedanoverallratingof4.8onascaleof1(poor)to 5(excellent)fromtheconferenceattendees Whenaskedtodescribe theconferenceinthreewords,thefollowingwereshared.Thelarger theword,themorefrequentlyitwasmentioned!
Similarly,weaskedattendeestoratethevenueand conferencecateringonthesamescale:
“Lookingforwardto nextyear”
100%ofattendeesfeltliketheylearntsomethingnew,with61.9% feelingliketheylearntalot.
Attendeesalsosharedvaluableinsightsonareasfor improvement,whichwillbeincorporatedintotheorganisationof our2025AnnualCommunityConference.
Everyone’s welcome!
Ourcommunityconferencewascuratedtoensureeveryonefeltwelcomeand included.Fromarobustagenda,tochild-friendlyseatingandactivities,accessibility, dietaryconsiderations,travelsupport,andanalways-mannedwelcomedesk.
“Thankyouformakingitpossibleforustoattend”-AnonymousFeedback Travelbursariessupportourcommunitytoattendbyremovingadditional financialworries,justoneofthebarrierstoaccesstheymayface.Ourtravel bursariessupportedtwenty-fourpeopletoattendthatotherwisemayhave struggled,orbeenunable,toattend.
“Foodwasniceandclearlylabelled,Ilikedtherewasscalesforpeopletouse andlowproteinoptionsforthosethatneedit.”-AnonymousFeedback
WeworkedcloselywiththevenueandChloeMillington,aSpecialistMetabolic DieticianatGreatOrmondStreetHospital,tocreateadeliciousmenuthroughout theday.Itisimportantthateachpersonattendingoureventfeelswelcomedand included,andprovidingsuitableandsafefoodoptionsisanintegralpartofthisfor ourcommunitymemberswhofollowspecialiseddiets.Aswithallareaswetake feedbackonthistopicseriouslyandalwaysstrivetoimproveourprovision.
