Metabolic Support UK is a charity registered in England and Wales (1089588) in Scotland (SCO44634) and a Company Limited by Guarantee (04267454).
Foreword: Co-Chairs
MetabolicSupportexistsforacommunitythatisdiverse, resilientandtoooftenoverlooked Peoplelivingwithinherited metabolicdisorders(IMDs)facelifelong,complexchallenges thatcutacrosshealth,education,employmentandsocial care.Asaboard,weareacutelyawareoftheresponsibility thatcomeswithbeingtheonlyUKpatientorganisation supportingeveryoneaffectedbyIMDs.Thisstrategysetsout howMetabolicSupportwillcontinuetomeetthatresponsibility inanincreasinglycomplexandpressuredenvironment, reflectingbothourheritageandfuturedirection.
co-chairs, paul cox & carl lander Sinceourinceptionin1981,MetabolicSupporthasconsistently evolvedtomeetthechangingneedsofourcommunity,whileremaining groundedinourcorepurpose:enablingpeoplewithIMDstolivewelltoday, tomorrowandbeyond.Asco-chairsweareproudoftheorganisation’swillingness topositivelydisruptsystemsthatdonotserveourcommunity,whilecontinuingto providedependable,compassionatesupportatanindividuallevel.Thisbalance betweencareandchallenge isadefiningstrengthofMetabolicSupport On behalfoftheBoard,wewouldliketothankourstaffteam,volunteers,partnersand supportersfortheirongoingcommitment.
CEO view: Kirsty Hoyle
Livingwellwithaninheritedmetabolicdisorderisourvision.Toomanypeoplein ourcommunityarestillfacingdelayeddiagnoses,limitedaccesstospecialist care,misunderstoodneedsandsystemsthatwereneverdesignedwithrare conditionsinmind Thisstrategyisourresponse;adetermined,unapologetic commitmenttoourcommunity
MetabolicSupportisheretosupportpeopletolivewellnow,notjusttowait forfuturebreakthroughs Thatmeansprovidingpracticalandemotional supportwhenit’sneededmost,buildingstrongcommunitiessonoonefeels isolatedandgatheringevidenceandinsightthatforcessystemstolisten andtochange.Weareadvocates,disruptorsandpartners.Wechallenge powerstructuresthatfailourcommunity,andbringlivedexperienceinto roomswheredecisionsaremade Whetherwearecampaigningtosave livesthroughThinkAmmonia,redefiningqualityoflifethroughtheLiving WellMovement,orpushingforbetterservicesandfaireraccessto treatment,ourworkisdrivenbytherealitiespeoplefaceeveryday.This strategyalsoreflectsthepressuresfacingcharitiesandcommunitiesalike. Inatimeofpoliticaluncertainty,stretchedservicesandrisingcosts,the needforstrong,crediblepatientvoiceshasneverbeengreater Wewill continuetoearnourseatatthetableanduseit.
Aboveall,thisstrategyisaboutpeople.PeoplelivingwithIMDs.Families navigatingloss,uncertaintyandhope.Andacommunitythatdeservesto beseen,heardandsupportedforlife.
kirsty Hoyle, ceo
MetabolicSupportistheumbrellapatientorganisationforpeoplelivingwith andaffectedbyInheritedMetabolicDisorders(IMDs) WeareaUK-based organisationwithaninternationalreach
imds affect around 40,000 people in the uk
there are over 2000 imds
around 72,000 people are born with imds each each year
1.43 million people live with imds worldwide
imds account for almost 20% of all rare known diseases
Theconditionswesupporthaveabroadrangeofsymptoms,treatmentsandlife expectancymeaningwerepresentanextremelydiversecommunity.Akeyfocusforus issupportingourcommunitytolivewellnow–inadditiontosupportingfuture developments-throughfocusedservicesco-producedwiththecommunity:individual support,buildingconnections,anddevelopingevidence-basedinsight Astheonly patientorganisationsupportingeveryoneaffectedbyIMDs,weprovidetrusted information,tailoredresourcesandavitalsenseofcommunity.Byempoweringpeople withknowledgeandadvocacy,wehelpthemliveaswellaspossiblewiththeir condition.
Ourfamiliescomefromacrosstheglobe,in2025wesupportedpeoplelivinginover70 countries Thisyearwehaverebrandedas‘MetabolicSupport’tobetterreflectthework wedo;mostofourcommunityarepartofsmall-patientpopulationsandweworkto connectandempowerthemall.
MetabolicSupportarealsoleadersinthewiderfieldofraredisease;sinceourinception in1981,wehavebeenattheforefrontofrarediseasecommunitydevelopment ProgressivedevelopmentisinourDNA;asfoundingmembersofEURORDIS,expanding newbornscreening,acceleratingthedevelopmentofIMDtreatments,andempowering ourcommunitythroughtheLivingWellMovement.
inherited Metabolic Disorder Community
IMDsarerare,lifelonggeneticdisordersthataffectpeopleinavarietyofwaysincluding lifestyle,lifespan,dietandmedicationneedsandsymptoms Sadly,somedisorderscan causeirreversiblecomplicationsordeath.Manypeoplefacelongdelaysinreceivinga diagnosisandonlyasmallnumberofIMDsareidentifiedthroughnewbornscreening, andaccesstospecialistcareislimited.
LivingwithanIMDcanbeextremelychallenging.Someconditionscanleadtocognitive impairment,braindamageorlife-threateningmedicalemergencies,yettherearefew effectivetreatmentsorcures Manypeoplerelyonstrictdietarymanagement,whichis oftenmisunderstoodbywidersociety Familiesalsofacedifficultiesaccessing appropriatebenefitsandsupport,particularlywhendailychallengesarenotrecognised bystandardassessments.PeoplelivingwithIMDsneedstrong,informedsupporttohelp themnavigatethesechallengesandMetabolicSupportisoftenthefirstportofcall.
Vision
Fortheinheritedmetabolicdisordercommunitytolivewelltoday,tomorrowandbeyond
Mission
Weexisttoenableourglobalinheritedmetabolicdisordercommunitytolivewellby offeringindividualsupport,buildingconnections,anddevelopingevidence-basedinsight Hereforlife,wewalkalongsideourcommunitywhenthingsarewellandduringthehard times.Weareadaptableandinfluential;respondingtochangingneedsassocietyand sciencedeveloparoundus.
Wearetheleadinglightinmeaningfulpatientcentricityandredefinetheperceptionof patientorganisations Ourintegrity,accountability,andambitiousprofessionalstandards allowustopositivelydisruptthestatusquo.Weprioritiseaccessibility,inclusion,andthe professionalisationofthecommunityvoice.
values
PositiveDisruption
Weaimtocreatereal,systemicchangeforourcommunityand areunafraidtopositivelychallengeexistingpowerstructures We advocateforourcommunitieswithradicalcandourand empowerthemdotothesame.Wearerigorouswiththequality ofourworktoensureweproducecommunity-driven,evidencebasedinsightsandcampaignsthatinfluenceandmakechange. Wearenotafraidtochallenge
BridgingConnections
Weprioritiseauthenticconnectionsandcollaborationsthat supporttheinheritedmetabolicdisordercommunity.Webuild trustedrelationshipswithindividuals,patientorganisations, healthcareprofessionals,andcommercialpartnerstoadvance ourcommunity’sinterests.WehelpanyoneaffectedbyIMDand donotplacejudgementonanindividual'svalues.Wecannotdo thisalone.
EnduringSupport
Forover45yearswehavesupportedtheinheritedmetabolic disordercommunitytolivewellnomatterwhattheyface From birthtodeath,wetailoroursupporttoindividualneeds.Wedevelop insight,research,andcommunityconnectionsthatwillsupportthe past,presentandfutureofourcommunity.Weareheretostay.
strategic delivery areas
MetabolicSupporthasfourkeystrategicdeliveryareasthatreflectthebreadthand depthofourwork. Weareleadersandlistenersandourkeyareashavebeen identifiedthroughcommunityinvolvementandtosupportourvision>
IndividualSupport
Weprovidefree,confidential,impartialemotionalandpracticalsupportthroughour helplineandemailand,wherepossible,signposttoexistingdisorder-specific organisationsorworkalongsiderelevantbodiestoensureaccesstosupportbasedon individualneed.Wearealwaysthereforeveryoneinourcommunitytooffer:
DeliveryofaMonday-Fridayadviceserviceprovidingdedicatedsupportand practicalguidancetailoredanddeliveredatthepaceoftheindividual Provisionoflong-termandintensivecaseworksupport,scaffoldingsupport structures,andadvocatingforthosewiththemostcomplexneeds.
Equippingourcommunitywithlay-friendlydisorder-specificinformationand practicaladvicetoolkitsonarangeoftopicstosupporteverydayroutinesandliving wellwithanIMD.
EmpowerpeopletodevelopknowledgeabouttheirIMDandthesupportand managementoptionsavailabletothem,includingcareandreferralpathways, throughourdisorder-informationpagesandongoingguidance.
EngagingwithspecialistsinIMDstosupportwithenquiries,developresources,share knowledge,andtofacilitatein-personsupportatIMDClinics.
BuildingCommunities
Weconnectpeopletopeersorcommunitiessupportingthemtoforgerelationshipsand sharedknowledgefromthosewithlivedunderstandingandexperienceswiththesame orsimilarIMDormeaningfultopic Wearebothinfluentialandresponsiveandoffera diverserangeofservices:
Weoffersafeanddependableonlinecommunitiesthroughthecreation, moderation,andsupportofnewandexistingonlinespacesthatbenefitmutual understanding
Facilitatedpeersupportandspecialisedcommunityprogrammesthatreduce isolationandformmeaningful,lasting,relationships
AuthenticempowermentfortheIMDcommunitythroughco-productionand opportunitysharing;bothformallythroughourMetabolicAdvisoryCouncil,and informallygatheringvaluablecommunityinsights
Weprovideinclusiveandaccessibleeventstobringtogetherthoseaffectedbyan IMD,healthcareprofessionals,raredisorderorganisationsandotherstoimprove ivity.
Wegather,analyse,andsharecriticalinsightsfrompeoplelivingwithinherited metabolicdisorders(IMDs)toinfluencepolicy,improveservices,andensuretheir voicesareheardateverylevel.Ourworkbridgesthegapbetweenlivedexperienceand systemicchange
CommunityInsights:Collect,interpret,andamplifytheexperiencesofpeople affectedbyIMDsthroughsurveys,interviewsandfocusgroups.Weusethese insightstoidentifyunmetneeds,shapeourworkandthatofourpartnerswhomay commissionustoconducttheprojects
Data-LedAdvocacy:Producerobustevidenceandactionableinsightsensuringour advocacyworkatexternalmeetingsandeventsiscommunity-driven,credible,and impactful.
ThoughtLeadership:Shareinsightsandexpertiseatnationalandinternational forums,contributingtotheglobalconversationonIMDsandpositioningour communityasaleadingvoiceinshapingfuturecareandsupport
TreatmentAccess:Werepresentthepatientvoiceonhealthtechnology submissions,regulatoryapprovalprocessesandinformandupdateourcommunity onwhatishappeningintheirdiseaseareaandbeyond.
ProfessionalInsight:Createandpromoteevidence-basedpublicationstoshare ourexperienceandlearningswidelyamongtheextendedrarediseasecommunity andthepublic
InfluencingChange
Weactivelyinfluenceandareresponsivetothepoliticalandpolicylandscapethat impactsourcommunity.Werespondtoconsultations,provideeducationalmaterials anddelivercampaignsthatamplifythevoicesofpeoplelivingwithinherited metabolicdisorders.Ourcampaignsareambitious;settingoutroadmapswith measurablegoalsandworkingwithkeypartnerstoelicitchangeandimprovethelives ofourcommunities
Campaigns:Wedeliverunrivalleddata-drivencampaignswithandforour communitytoachievemeasurablechangeinpolicy,systemsandservices. Consultations:Werepresentourcommunity’svoiceinconsultationsandthrough participationingroups,bothintheUKandinternationally
AccessibleEducation:Wesharereportsandkeyinformationwithourcommunities inaccessibleandengagingformats.OurResearchReadyHubempowers communitieswiththeknowledgetheyneedforself-advocacyandtopartnerwith ustoinfluencechange.
and veinfluence toseek agnosis,
What do we need to be able to do our work?
PeopleandPartners
Weneedthesupport,guidanceandchallenges ofotherstoachieveourmission MetabolicSupport willworkwithanyperson,organisationorgroup whosegoalsandaimsarealignedwithourown. Itisvitalthatwearerespected,valuedandtrusted byhealthcareprofessionals,government,patient communityandcommercialpartners Asan umbrellaorganisationitisvitaltoustowork alongsidedisease-specificpatientcommunities andwestriveforpositiverelationshipsthatoffer support,notcompetition Ourcommercialpartners areimportant;weneedtoknowwhoisdevelopingtreatmentsforIMDsandinfluencethis fromtheoutset.Ourhealthcareprofessionalrelationshipsarevitalinbothsupportive adviceandunderstandingtheirperspectiveofcaredelivery.Fundamentaltoourworkis co-production,whichmeansdoingthingswithourcommunity,nottothem.
OurMetabolicAdvisoryCouncilfunctionsasacoreco-productionmechanism alongsideourregularconnectionswithourcommunity Increasinglyweareseeking partnershipswithresearchandacademicinstitutionstodriveforwardourpublications andresearchwork.
MoneyandResources
Asacharitywedonotreceiveanystatutoryfundingandwedonotcurrentlyoffer servicesthatarepaidforbyanygovernmentbody.Weraisewhatweneedinorderto doourworkeachyearandtrytoraisefundsfromasmanysourcesaspossible.We mainlyreceivefundingfrom:individualsfromtheIMDcommunity,trustsand foundationsandcommercialorganisations Ourcommunityareexcellentfundraisers andwearesograteful.Weaimnottorelytooheavilyonfundingfromoneortwo incomestreamsbutequallywedonotsetproportionallimitsonwhereourmoney comesfrom.Ourfundingpolicyistransparent;thesourceofanyfundingwereceive hasnoimpactontheindependenceorintegrityofourwork.Wealsoseekthesupport andsharedresourcesoffriendsandpartnersinourrarediseasecommunitiestoget bestvaluefromourworkandensurewedon’tdothingstwice Asanot-for-profit organisation,everypennyweraiseisspentonbeingthereforourcommunity.
Communication
Beingseenandheardissoimportantforus;newly diagnosedfamiliesinparticularneedtobeableto findusfast.Investmentinandmanagementofour visibilityisvitalandwestrivetobepresentboth onlineandphysicallyinourcommunities Metabolic Supporthassocialmediaaccountsacrossallthe majorplatformsandwemanageandchoosethese inaccordancewithoursocialmediapolicy.Werun aseriesofclinicvisitsintheUK,hostcommunity daysandwillattendexternalmeetingsonrequest Wevisitconferenceandeventsthathelpustolearn andtoconnectwithkeyopinionleaders,whichmay includeworkingabroad.
key projects for 2026
Alongsideoureverydayworkwehavefocusedtopicsfortheyearwhichreflect communityneed,societalinterestsandissuesandourteam’splansandconcerns.
LivingWellMovement
LivingWellisacampaigndesignedtoredefinewhatitmeanstolive wellwithararecondition.Thismovementisshapedbyresearchwith peoplelivingwithIMDsandfocusesnotonlyonaccesstotreatments butalsoonquality-of-lifeprioritiessuchaseducation,employment, identity,joyandrights Theaimistoembedthesecommunity-defined prioritiesintopublicpolicy,lawandwidersocietalsupportsothat peoplewithrareconditionscantrulylivewelltoday.Followingonfrom thesuccessfulLivingWellSymposiumin2025,thisyearwillfocuson progressingtheLivingWellaimsinpolicyandthroughacommunitydrivenawarenesscampaign
ThinkAmmoniaCampaign
OurThinkAmmoniacampaignraiseslife-savingawarenessof hyperammonaemia,adangerousriseinbloodammoniathatcan occurinmanyinheritedmetabolicdisorders(IMDs) Itaimsto improveunderstandingamonghealthprofessionalsandthepublicof thesignsofhighammoniaandtheurgencyofrapidtestingand treatment.Inspiredbytheexperiencesofourcommunity,including thetragiclossofindividualstoundiagnosedhyperammonaemia,our campaignproducesguidance,posters,videosandtrainingtohelp savelivesacrosstheglobe
PatientEducation
OurResearchReadyHubisacentral,accessibleresourcesupporting peoplelivingwithinheritedmetabolicdisorders(IMDs),alongwith theirfamiliesandsupporters,tobetterunderstandresearch, healthcaresystemsandaccesstomedicines.Throughclear informationandeasy-to-usee-modules,thehubbreaksdown complextopicsandbuildsknowledgeandconfidence.Overthenext year,wewillbuildontheseresourcesbyexpandingthehubto includenewtopicsidentifiedasvitaltoourcommunity,including understandinghealthcarerightsandentitlements.Thisworkwill furtherequippeopleaffectedbyIMDswiththetoolstheyneedto navigatehealthcaresystems,accessappropriatecare,and advocateeffectivelyforthemselvesandtheirfamilies
End-of-LifeandBereavementSupport
Dedicatedresourcesforpeopleaffectedbythelossofalovedoneto anIMD.Thisincludesguidesandtoolkitscoveringsensitivesubjects suchasfunerals,copingwithgriefandtheemotionaljourneyafter loss Thesematerialsaredevelopedwithinputfromthecommunity tohelpfamiliesfindsupportandunderstandingduringdeeply difficulttimes.
MetabolicSupportInsight
Insightprojectscollectandanalyselivedexperiencesfrompeople withIMDstoinformMSUK’sworkandinfluencebroaderrare diseasesystems.Forexample,theThoughtsintoActionreport capturescommunityviewsonqualityoflifeandhowsystems shouldadapttobettersupporteverydayneeds fromservicesto policy Theseinsightoutputshelpdrivechangerootedinwhat matterstothecommunity.
LowProteinSupport
Supportwithmanagingalow-proteindiet,withinformationon accessingspecialistfoods,dietarytools,andguidancefrom metabolicdieticians.Weaimtoencouragesafecuriosityintrying newfoodsandexploringdifferentcuisines,whileaddressing everydaymanagementsuchassocialevents,eatingoutand buildingconfidenceandindependencethroughteenageandadult years.Ourresourcesconnectpeopletotrustedrecipes,communityledideas,anddetailsoflow-proteinevents,andaredevelopedin partnershipwiththecommunity,relevantorganisations,and specialistprofessionals
TransitionSupport
Wearecommittedtoprovidingresourcestosupportyoungpeople andtheirfamiliestonavigatethemovefrompaediatrictoadult services.Wewillprovideguidanceonpreparingfortransition, understandingchangesincare,communicationswithnewteams, andbuildingconfidencetomanagehealthindependently Our materialsdelicatelyaddresspracticalchallengesandemotional adjustmentfromboththeyoungpersonandtheirparents/carers.
2026HotTopicsFocus:Exercise&Menopause
Inresponsetogrowingcommunityneedonekeyofferforour communitywillbeournewresourcesonexercise,weight management,andthemenopause.Theseresourceswillencourage individualstoexplorephysicalactivitysafelywiththeirhealthcare teams.Ourmenopauseresourcewillofferspecialistinsightintohow themenopausecanimpactthosewithIMDsandwillencourage openconversationswithinourcommunityaboutmenopauseand menstrualhealthandwillbedevelopedalongsidemetabolicteams.
InternationalDevelopment
MetabolicSupportSriLanka:ThiscollaborationbetweenMetabolic SupportandtheRareDiseaseForumofSriLanka(RDF)willimprove diagnosis,careandawarenessofinbornerrorsofmetabolisminSri Lanka.Bycombininginternationalexpertisewithlocalclinical knowledge,theprojectworkstostrengthendiagnosticservices, supportfamilies,educatehealthcareprofessionalsandadvocatefor betterpathwaystocareinthecountry
CommunityConnectorProgramme
Thisprogrammeisaseriesofonlineandin-personeventsthat bringsfamiliestogetherinasafe,funsetting,toconnect,inspire andeducate.Theseeventsandconnectionsgivenourcommunity theopportunitytomeetpeoplewhotrulyunderstandtheirjourney. Theimpactispowerful;reducedisolationandstrongersupport networks WeareincreasinglocalisedsupportwithaUK-widein personcommunitytourwithcommunityandclinicvisitstomake suretheseconnectionsareaccessibleandincludethehealthcare professional.
SharedPathsProgramme
Wearecommittedtoactivelyseekingoutandconnectingwithnew communitieswhohavenostructuredsupport.Therearearound 2,000IMDsandthemajorityofthesecommunitieshavenodirect patientgroup–wearetheirrepresentativeasanumbrellagroup Often,acommunitygroupwillcometogetherifthereispublic interest,oramedicaldevelopment–butforthemajoritythisisnot thecase.Itisthesecommunitiesweseektoengagewith,toidentify unmetneeds,bringpeopletogetherandhelpeveryonewithanIMD livewell
