Celebrate2024withuswhilstwetakea sneakpeakatwhat’stocomein2025. Whatdoyouneedtolivewellwithyour rarecondition?Jointheconversationat outLivingWellSymposium(Page5-6)
A Look back A Look back and Beyond and Beyond Metabolic Metabolic Matters Matters
ThispastyearhasbeenapivotaltimeforMetabolicSupportUK.We begantheyearwithoursuccessfulNationalLotteryfundingofover £350,000,aclearsignofexternaltrustinourservicesandgrowing reputation.Theteamhasworkedhardondeliveringmeaningfully patient-centredservicesthatofferday-to-daysupportbutalso withaneyeonthefuture.Weareproudoftheco-productionthat sitsattheheartofourboardandourteam;throughourtrustees withlivedexperienceandourleadingMetabolicAdvisoryCouncil weleadthewayincommunityengagement
Theboardreflectonayearofchange,success,anddevelopment; pavingthewayforasecureandprogressivefutureforour cherishedorganisation.
PaulCox&CarlLander,Co-chairsoftheboard
KirstyHoyle,CEO
ntoactionwastheleadforusthisyear; responding OurleadingThinkAmmonia vedbecauseofwhatyoutoldusmatteredto vementisareflectionofthereallivesyoulive ,andeverydaywepickupthephoneto
quest,everysmileortearshared,every moriesshared Welookforwardto2025, akesureeveryoneaffectedbyinherited anlivewelltoday,tomorrowandbeyond.
The More the merrier
Thisyearwewerepleasedtoconnectwithmanyof youthroughoureventsandclinicvisits.
Thankyoutoeveryonewhoattendedoureventsthisyear.Theycouldn’thavebeenas specialandinsightfulwithoutyoursupport,presence,andfeedback
Trying something new
Earlierintheyear,backwhenthesunwasshininganditrainedabi condition-specificevent,UCDDay.WesupportedtheUreaCycleDi cometogetherforadayofconnectioninLondon.Thiscommunityd conversations,fromconnectingoverconditions,growingupandtra accesstotreatment,medicine,andcare
“Havingarareconditioninthefamily bringsupsomanyquestionsforus.Itwas nicetobeabletosharesomeofourtips andsuccessesandalsolearnfrom others.”
Wanttohearmore?Clickheretoreadour summaryofthedayonourwebsite
WeknowlifewithanIMDcanbebusy.From jugglingschool,work,care,appointments, familytime,fun,andcommitments.Finding timetoreachoutcanfeeldifficultandeven overwhelming.
Sothisyear,webroughtMetabolicSupport UKtoyou.Didyouseeusatanyofourclinic visitsovertheyear?Wehadalovelytime meetingsomanyofyou,answering questions,playingwithlittleonesand helpingtheappointmentwaitingtimesto passjustalittlebiteasier.
We’vevisitedBirminghamChildren’sHospital,EvelinaChildren’sHos StreetHospital,LeicesterChildren’sHospital,NottinghamChildren’s RoyalHospitalthisyear Theteamhasbeenworkinghardallyearwithcentresand healthcareprofessionalsaroundtheUKtomakeplanswithevenmorecentres.
Haveyoufoundourclinicvisitshelpful?Istheresomewhereyou’dliketoseeus? Letusknow!We’dlovetohearfromyou.
annual community Conference
nue, thestudio,andChloeMillington,aSpecialist MetabolicDieticianatGreatOrmondStreet Hospital,tocreateadeliciousspreadof foodthroughoutthedayforourmetabolic community.
suretocheckyouremailsandshareyour feedbackwithus.
Finally,our2024CommunityConference couldn’thavehappenedwithoutour conferencesponsors.Specialthankstoour 2024CommunityConferencesponsors Find themallonourwebsite.
What does living well mean to you?
FindoutmoreabouttheLivingWellMovementand howyourvoiceispivotalinshapingchange
WearehostingourLivingWellSymposium inMarchnextyear.
ButwhatisourLivingWellMovement?
Inspiredbyourcommunityandshapedby research,thismovementisthenextstepin ourThoughtsintoActionresearchproject thatmanyofourIMDcommunitytookpart inlastyear.
Youtolduswhilstaccesstoappropriate healthcareandtreatmentsisimportant, youalsoneedcohesivesupportstructures tolivewelleveryday.Providingaccessto support,employment,education,benefits, andjoy
Sowhatwearedoing?
Weareonamissiontohelppeopleliving withararediseasetolivewellnowandto influencepatientorganisations,healthcare professionals,andpolicymakerstoreflect thisinthewaytheirservicesaredesigned anddelivered Yourvoiceisasimportantasever.
JoinusattheLivingWellSymposiumon Friday7thofMarch2025todiscusswhatit meanstolivewellwithararecondition.Be partoftheconversationsshapinghow togetherweensurepeoplelivingwithrare diseasesaresupportedtoachieveagood everydayqualityoflife
ofrareconditionsdo nothaveanapproved treatmentandourrare communityneeds supporttolivewellnow. Weareonamissionto makethisareality. 95%
# Year in review
Hearaboutthescopeofprojectswe’vebeenbusily workingawayonduring2024.
It’sbeenanotherbusyyear.Here’salittleoverviewofthedifferentkindsofworkwe’ve beenuptoincaseyoumissedit!We’reproudofeverythingwehaveachievedtogether!
Didyouknowweworkwith
Fromclinicaltrialstosurveysandstudies, wearealwayslookingforopportunitiesthat youmightbeinterestedin.Didyoutake partintheImportanceofPicturessurvey recently?We’relookingforwardtothe resultsofthisresearchearlynextyear!The researchforourworkwithCystinosis FoundationUKandKidneyResearchUK regarding theimpactofCystinosis treatmentsisalreadylive,checkitout.
Werespondtoconsultations andstatementsallyear round,ensuringtheIMD communityisrepresented
Youmayhaveseenourrecentresponseto theAutumnbudget,breakingdownwhatit meansfortheIMDcommunity.Thisyearwe alsorespondedtomultipleopenletters, includingthosecallingforcheaperenergy andwaterbillsforcommunitieslikeours, andadvocatingagainsttheclosureofticket officesattrainstations,alongsidemany surveysandevenmedicineconsultations
Weworkedhardtoimprove ourcommunicationabout HealthTechnology Assessments
Collaboratingwithyouandother organisationsisvitalintheassessmentof medicines It’sjustasimportantthatwe sharetimelynewsandopportunitieswith you DidyouseeournewMedicines Consultationswebsitepage?Seethis year’sassessmentupdatesforARG1d,LCFAODs,andMoCDTypeAanddon’tmiss ourMonthlyMedicinesRoundups!
Didyouhearaboutall ourinternationalwork?
Thisyearmorethaneverweworkedwith ourinternationalcounterpartsand organisations.FromThinkAmmonia translationsandwebinars,toworking groupsandinternationalenquiries,world widecollaborationishelpingtostrengthen everyaspectofourwork
Wecontinuedto expandoure-modules!
WenowhavethreeFREEe-modulesand areworkingonevenmorestill.Youcannow learnmoreaboutMedicinesDevelopment, Excipients,orMetabolicCrises.Enroltoday!
Monthly Medicines Roundup
Thismonth’sroundupofmedicineswithalookback atallthemovementduring2024
Forthisyear'stwelfthandfinalinheritedmetabolicdisordermedicinesroundupwehavean updateabouttwonewlyselectedmedicationsforassessment,threestatusupdates,andone medicationthathasmovedto“notselected”.
Govorestatfortreatingpeopleaged2-65 yearsofagelivingwithclassic galactosemiawasselectedforassessment byNICEinEngland
Evinacumab,previouslyrecommendedby NICEforthetreatingpeopleaged12years andolderwithhomozygousfamilial hypercholesterolemia,wasnotselectedfor assessmentfortreatingchildrenaged5-11 years.
TheNICE(England)assessmentof triheptanoinfortreatingpeoplewithliving long-chainfattyoxidationdisorders startedwithaconsultationthatMSUK supported.
ThesecondNICE(England)committee meetingforfosdenopterin,forthe treatmentofpeoplelivingwith molybdenumcofactordeficiencytypeA, washeldinNovember.
ThethirdNICE(England)committee meetingforolipudasealfa,fortreatmentof peoplelivingwithNiemann-Pickdisease typesAandB,washeldinNovember.
Doxecitine-doxribtiminefortreating peopleofanyagewhohadsymptomsof thymidinekinase2deficiencybefore13 yearsofagewasselectedforassessment byNICEinEngland.
Weareproudtoworkalongsideorganisations andcommunitiestosupportthese assessments.
Thankyoutoeveryonewhohassharedtheir experiencestohelpusbestrepresentyourlife withararecondition
8 8 6 6 11
metabolicmedicineswereapproved ineitherEngland,NorthernIreland, Scotland,and/orWalesin2024 metabolicmedicinesarecurrently undergoingassessmentbyNICEfor theadoptioninEnglandandWales metabolicmedicineiscurrently undergoingassessmentbySMCfor theadoptioninScotland
Ournexte-modulecomingearlyin 2025willcovertheseprocesses starttofinish. ? ?
Findoutmoreabouteachupdate,includinganyknowntimelinesornextsteps,onourwebsite.
MonthlyMatters Share your voice
Beheardandhaveyoursayinprojectsandchange thatmayaffecttheIMDcommunity
A PKU Perspective
Savethedateandbepartofthefirst-ofits-kindopportunityforthePhenylketonuria Community!
Shareyourexperiences,needs,and treatmentprioritiesdirectlywiththeU.S. FoodandDrugAdministration,lifescience companieswithactivePKUprogrammes, researchers,andhealthcareprofessionals inthefirstTruePKUMeetingon8May2025
WhatistheTruePKUmeeting?
TruePKUisavirtual,“externally-ledpatientfocuseddrugdevelopmentmeeting”known asanEL-PFDDmeeting.Thismeetingis designedtocapturetheuniqueand invaluableperspectiveofthoselivingwith PKUtohelpimproveunderstandingoflife withPKUandcurrentcare.
Change NHS
Bepartofthebiggesteverconversationa
Youtoldusthataccesstoappropriatehe healthandoverallqualityoflifewhenlivi livingwithararedisorder,youmayhave perspectiveofengagingwiththeNHSov Nowit’stimeforyourviewsandexperie HealthPlanforEngland.TheDepartmen isleadingthiswork,andtheywanttohea what’sworkingandwhat’sgoingwrong.
Lessonslearnedmightincludespecific experiencesthatmattermosttothePKU community,livedperspectiveson meaningfultreatmentbenefits,andhow peoplewanttobeengagedinthedrug developmentprocess.
TruePKUisacollaborationbetweenMSUK, theNationalPKUAlliance,andother metabolicdisorderadvocacyorganisations aroundtheworld.
Areyouahealthcareprofessional?Click yourviews.
Shareyour views
the London Marathon CommunitySpotlight
HearfromHelenwhoranthe2024TCSLondon
Aswe’reallwrappingupandspendingmoretimesindoorstryingtokeepwarm,Team MSUKareoutinthecoldmorningsanddarkeveningsgettingreadyforthe2025TCS LondonMarathon.Thereain’tnorestforthewicked(lyawesomefundraisers)!
Thisyearwehaveafantasticteamoffourteenrunnerswarmingupandstretchingtheir fundraisingmusclestosupportusandtheinheritedmetabolicdisordercommunity.We havenewrunners,returningrunners,andeveninternationalrunners Eachwiththeirown storyandreasonsfortakingpartandsupportingus.Wecan’twaitforyoutomeetthemin thenewyear!
Butfirst,wesatdownwithHelen,oneofourwonderfulrunnersfromthisyear’sevent,tohear moreaboutherLondonMarathonjourneyandhowshemanagedtosmashherfundraising target!
Likemany,Helendecidedtogetinvolved foraverypersonalreason;atjust7days oldherlittleboyOscarwasdiagnosedwith MediumChainAcyl-CoADehydrogenase Deficiency(MCADD).
Thrustintoanewworld,Oscar’sfamilyhad toquicklylearnwhathisdiagnosismeant forhimandtheirfamily.Thisiswherethey firstfoundMetabolicSupportUK.
WhenHelenandherfamilyattendedour 2023AnnualCommunityConference,itwas thefirsttimetheymetanyoneelsewith MCADDandtheyfoundthemselvesfeeling inspired
“Formeitwashowdifferentlifeisforus nowcomparedtothecouplewhosetup MSUKandtheirlittlegirl.Thedifference thatthey’vemade,imaginewhatit’s goingtobelike10,20,yearsfromnow.
Anythingthat’sinherited,we’realways thinkingofourgrandchildren,ourgreat grandchildren,andhowwecanmakethe rubbishthingswe’vebeenthroughabit betterforthem.[TheLondonMarathon] wasraisedattheconference,my husband’sgotbadknees,anditwaslike, welloneofushasgotto!”
Wheredoyouevenbeginonceyougetyour placefortheLondonMarathon,especially whenyouhavenorunningexperience?It canfeeldauntingtomakeastartwithyour trainingandevenfundraising.Helen jumpedintoboth,findingwhatworkedwell forher,andsometimeswhatdidn’t.
“ThetrainingwasharderthanIwas expecting.”
Helenboughtatrainingplan, soughtsomenutritional support,andeventriedtraining insidetoescapethegloomy Britishweather.
“Ijustpreferredgettingout evenwhenitwasraining, snowing,justlikegoout andgetitdone.Gettingit doneslowlyisbetterthan notatall.”
“Justtelleverybodyandanybody. Don’tbeshy.Getoutthereandjustsay look,it’sforanamazingcause.BeforeI hadOscarI’dneverheardofmetabolic diseases,Iknewnothingaboutit.AndI thinkoncepeopleknowaboutitthey’re morewillingtocontributeandwantto helpmakeadifference.“
Trainingwasjustastartingglimpseofthe powerofcommunitysurroundingthe LondonMarathon Gettingoutfortraining waseasierwithamazingsupportfromher husbandandchildcarefromthe grandparents Tipsfromfamilyandfriends whohaveranamarathonbeforewere reallyhelpful,too Don’thesitatetoaskfor helpfromyourcommunity!
“Whenpeoplefindoutyou’redoingit they’resoeagertohelpout.”
Findinghergroovewithtraining,Helen turnedherattentiontoherfundraising. Frompanickingthatnoonewasdonating, toraisinganincredible£3,000,throughoutit allHelenattributeshersuccesstojustnot beingshy(andsomeknittedgoodiesfrom hermum!).
Helenfoundthatlotsofdonations cameinonthedayoftheevent, andevenafter,oftenfromfriends ofherfriendsorfamily.
Sodon’tstopsharingevenonce thehardworkisdone,younever knowwho’swaitingtosupportyou andcelebrateyourachievements withadonation!
Beyondthefundraisingand physicalchallenges,theLondon
Marathonofferedasenseofcommunity, connection,andhope,thatHelenhadn’t expected.Helenmangedtocheckinwith herownlovelyfamilythreetimesaround thecourse,astheypassedhermuchneededwater,gels,andsupport.Butit wasn’tjustfamilykeepingHelengoing
“Theatmospherewasjustsomething different.Justeveryonewassupportive. Peoplewereseeingeachotherstruggle andgivingeveryoneaboost.”
Only6milesintotheevent,Helenwas stoppedbyparentofachildwithMCADD whohadalsoranforMSUKinthepast!
“He’sthesecondpersonI’veevermetto knowaboutMCADDorhaveaconnection. ThathappeningduringtheLondon Marathonwasincredible,itgavemethat littlepushtokeepgoing.”
Hewasn’ttheonlyonetomakeanimpact. Helenreceivedsupportfromotherparents andotherslivingwithMCADD Onemessage thatstoodoutwasfromafellow2024 LondonMarathonrunnerwhohasMCADD, showingherjustalltheopportunitiesopento herson,
“Whenyou’retoldthatsortofnewsyou thinkOscar'snevergoingtobeabletodo anything,whereasnowyouthink,wellhe can,hecanrunamarathon.”
Oscarcontinuestothrive,“he'sfunny,kind, cleveralongsidebeingutterchaos,butwe wouldn'tchangehimfortheworld!”
ThankyoutoHelenforbeingpartof wonderful2024MSUKTeamandsharingher experiencewithus
Feeling inspired by Helen’s Experience?
Reachouttoseehowyoucansupport MetabolicSupportUK!
New year, New connections
Howeveryouliketoconnectandaccesssupport,we arehereforyou.
Lifewithaninheritedmetabolicdisordercanfeelisolating.Butyouarenotalone.Whatever you’regoingthrough,howeveryou’refeeling,there’sawideandinternationalcommunityof peoplewhounderstand,whohavenavigatedthesame,orsimilar,things.
Metabolic Connect
OurMetabolicConnectprogramme isdesignedtoconnectindividualsand familiesonaone-to-onebasistoofferthat vitalpeersupportandfriendship Weare fortunatetoworkwithsomanyfantastic peopleacrosstheinheritedmetabolic disordercommunitywhoarewillingto connectandsharetheirexperiences.
Canyouoffersupportandunderstanding toothers?Orareyoulookingforsupport fromsomeonewhogetsit?
SimplycompleteourformtojoinMetabolic Connecttoday!We'llsearchournetworkto connectyouwithsomeonewiththesame, orsimilar,condition.Therestishistory!
Are groups more your thing?
Seeking confidential support?
TheMSUKteamisonhandtosupportyou. LedbyHelen,ourSupportandAdvice Managerwithover20yearsofexperience supportingtheinheritedmetabolicdisorder community,ourindividualsupportishereto offerpracticaladviceandalisteningear.
Ourphonelinesareopen10am-4pm Monday,Wednesday,Thursday,andFriday. Calluson08006523181orfillinourcontact form.
Whereveryouareinyourjourney,however youareshowingup,weareheretosupport you.
Nottoworry.Weareproudtobepartofanextensivenetworkofonline communitiesandsupportgroups.Wearemorethanhappytohelp youfindaspacethatisrightforyou
Sometimes,especiallyforrarerinheritedmetabolicdisorders,there maynotbeanexistingonlinecommunityordedicatedsupportgroup. Butthatdoesn’tmeantherearen’totherslikeyourselflookingforthat connection
Thinkingaboutcreatingyourowncommunity?Wishingwe’dcreate oneforyourdisorder?Wecanhelp!Getintouchforaconversation.
Ourcompassionateteamcanoffer:
Confidential, individualsupport, advice,andguidance
Reliabledisorderspecificinformation youcanunderstand
Traveladvice, includingsupport withinsurance
Financialguidance: Knowhowtoaccess whatyou'reentitledto
Trackers&resources togetthemostoutof yourappointments
Educationsupportfor allages
Mentalhealthsupport andwellbeingtips
Whilstbeingpartofourfriendlycommunitycanoffer:
Sharedknowledge andexperiences
Peersupport-Talkto otherswhoreally understand
Conferences,events andwebinars
Updatesonresearch, clinicaltrials,andnew treatments
Spacetoshareyour ownideasandjoin theconversation!
Thisyearweareincrediblypleasedandhonouredtohavehelped morepeoplethanever.Sofarwe’vesupported609peoplethis year!453ofthesewerenewpeoplecomingtousforthefirsttime.
AlthoughoursupportwasmostlyaccessedbythoseintheUK,we alsosupportedpeoplefrom43othercountriesacrosstheglobe. Eachpersonwehelpisanopportunityforourteamtolearnmore aboutourcommunityandhowwecansupportyoubest.Thank youforbeingapartofthislearningwhichactivelyfeedsintoour resourcesandwork.
Workingwithyou,foryou.Always.
Think Ammonia!
Ourcampaigntoimproveawareness, understanding,andtestingofhyperammonaemia
BackinMarch,welaunchedthe“ThinkAmmonia!”campaign,drivenbyourcommunities’ storiesabouttheirlovedonesexperiencingseverenegativeoutcom highammonianotbeingdiagnosedandtreatedquickenough.
Sincethelaunch,wehaveworkedwithour communities,healthcareprofessionals, andotherexpertstoensurepeopleknow thesigns,testearlier,andsavelives.
Thankyoutoeveryonewhohasshared theirstoryorsupportedthiscampaign! Togetherwe’vereachedfarandwide already,andwillcontinuetodosoin2025
What
progress have we made so far?
The Posters
Wehavedeveloped anddeliveredover
400posterstoatleast 20UKhealthcare trusts.
“Withouttheammonia bloodtestIwouldn’thave mysonheretoday. Earlydetectioncanlimit irreversibledamage. Thinkammonia! Savelives!“
SophieHawker, mothertoRory wholiveswitha UreaCycleDisorder.
SocialMedia& CommunityVideos
Reachedover150,000people withyourstories,increasing awarenessandamplifying communityvoicestodriveearly diagnosisandtreatment.
Webinars& Events
Wepresentedat21events includingawebinarfor healthcareprofessionalswith 333attendees,aUniversityof Cambridgeeventfortrainee doctorswithover60 attendeesandtheatan internationalconferencewith morethan100attendees.
Interestedinourupcomingworkonthe campaign?
Keepyoureyesonoursocialmediainthenewyear forupdates.OremailJonathantogetinvolved!
Ourm intof Dari& then and pos
Praise for the fundraisers
Thankyouforbeingpartofourcommunityand thinkingofusandIMDCommunity
Ahugethankyoutoallourfundraisersthisyear!Yourhelptospreadawarenessandsupport theinheritedmetabolicdisordercommunityreallymeanstheworldtous Wesawbakesales, skydives,raffles,runs,ultra-marathons,climbs,quizzes,charityweeks,schooltalks,andevents andfundraisingendeavoursheldinthememoryoflovesones.
Togetherwecansupportmorepeopleandfamiliesaffectedbyinheritedmetabolicdisorders.
Easy-PEasy
Fundraising
Didyouknowyoucanraisemoneyto supportuswhenshoppingonline,forFREE?
Whetheryou’rebookingaholiday,getting theweeklyshopin,orgrabbingabargain, over8000retailerswilldonatetouswhen youshoponlineusingEasyFundraising. IncludingbignameslikeeBay,JohnLewis, Argos,ASOS,Expedia,JustEat,M&S,and manymanymore!
Lookingforanexcusetotrysomething new?Fundraiseforusandgetyourskydive completelyFREEwithSkylinesSkydiving.
Start2025bytickingoffyourWishList
Nomatterwhatyou’rebuyingyoucanraise freedonationsforusthatreallymakea differencetothoseaffectedbyinherited metabolicdisorders
Orclickheretofindoutallabout howtheircharityjumpswork.
DidyoucatchthelatestadditionstoMSUK? SayhitoKerry-SueandScott!
Weareextremelypleasedtohaveseenourteamandboardoftrusteesgrowthisyear.
EachpersonwelcomedintoMetabolicSupportUKbringsawealthofexperienceand expertise,broughttogetherbyourcommongoalofsupportingandadvocatingforthe inheritedmetabolicdisordercommunity Eachofusisproudtostandwithyou,foryou Meetourtwonewestadditions!
VirtualAssistantandAdminSupport
“Hello,I’mKerry-Sue,afreelanceVirtual AssistantprovidingAdministrativeSupport forMetabolicSupportUK
Withover25yearsofexperienceinboththe publicandprivatesectors,Ibringawealth ofknowledgeandauniqueperspectiveto workingwithcharitableorganisations My roleinvolvesprovidinghigh-level administrativesupporttotheteam, enablingthemtofulfiltheirroleseffectively andachievetheirobjectives.
Iampassionateaboutcontributingto meaningfulcausesandensuring operationalexcellence.”
DidyoumeetKerry-SueatourCommunity Conference?Hermeticuloussupporthelps MSUKtoreachit’sobjectives.Welcometo theteam,Kerry-Sue!
TrusteeandTreasurer
“Hi,I’mScottandI’matrusteehereat MetabolicSupportUK.
Iamacharteredaccountantandthe currentDirectoratSLEInvestmentsLimited. Ihaveovertwentyyearsofexperience workingforarangeoforganisations.
InowactasthetreasurerforMetabolic SupportUK,offeringmyexperienceto overseethecharity’sfinances,ensuringit candeliveritsstrategyeffectivelyto improvethelivesofpeoplelivingwith InheritedMetabolicDisorders.” Scotthelpsensurewe’remakingthemost ofourfundingsowecankeepofferingthe high-levelsupportyou’vecometoknow fromMSUK!Welcomeaboard,Scott!
