Thoughts Into Action

Thoughts Action into

What is quality of life as defined by people living with inherited metabolic disorders?

Thoughts into action: contents

Foreword: Elin Haf Davies, Chair of MSUK

MetabolicSupportUK(MSUK)have beensupportingpeoplelivingwith InheritedMetabolicDisorders(IMD), andtheircommunities,since1981.

Ourfuturesuccesswillbedetermined byhavingatrueunderstandingofthe factorsthatourcommunityfeelimpacts theireverydayqualityoflife.This understandingprovidesuswiththe knowledgetoquestionhoweffectively currentsystemshelpthemtoachievea goodqualityoflife.Wewantthisworkto delivermeaningfulchangethatgoes beyondconversationsandwritten recommendations.

Iwouldliketothankthepeoplewho tookthetimetospeaktousandto sharetheirstories.Itisaprivilegeto listenandbeabletotakeaction.

cEO VIEW: KIRSTY HOYLE

In2021,ImovedfromCEOofadisability rightsorganisationtoararedisease organisationandwasimmediately struckbythedifferenceintheimages, narrativesandschemesofworkthat surroundourrarecommunity,despite thesimilaritiesoftheirexperiences.

Peoplelivingwithararediseaseare bombardedwithliteraturethattalksof theconditionstheylivewithashaving intolerableburdenordevastating impact.

Doesthis‘devastation’narrative genuinelysupportpeoplelivingwitha rarediseasetolivewell?Anddowe,as apatientorganisation,doenoughto explorewhatlivingwellwitharare diseaselookslike?

Ibelieveourroleasapatient organisationistoreflecttheselfreportedneedsofourcommunityand todevelopservicesandafunding modelthatsupportsthis.Thoughtsinto Actionisanintegralpartofthatprocess.

Forthisresearchwehaveresistedthe pressuretoprovidestatisticsthatmaytell ushowmanypeopleidentifywithanissue -butnotwhyorhowtheissuearises. Knowingthat,forexample,‘7outof10 peoplewithanIMDfeellonely’,maybe usefulforcampaigningbutdoesnotreflect thenatureofthehumanexperience.

Asararediseasecommunity,wewantto challengethequantitativebias;anissueis notonlyvaluableshouldacertain percentageofpeoplebeaffectedbyit Our groundedtheoryapproachinstead combinesthestoriesweweretoldinto valuableinsightthatwillhelpustosupport ourcommunitytolivewellwithanIMD.

Wehopeyouwillreadandrespondtothis storythatsharesthelivesofour communityastheylivethem:complex, interconnectedanddeeplypersonal.

AtMSUKwewantedtoknowwhat mattersmosttopeoplelivingwithan IMDandwhatfactorstheyfeelimpact ontheireverydayqualityoflife.Asa result,wedecidedtoaskourcommunity totellusintheirownwordsinaresearch projectcalledThoughtsintoAction.

ThoughtsintoActionisdesignedto genuinelyandmeaningfullycentreour community’sviewswithinalandscape thatcurrentlyreliesheavilyontheviews oftheservicesdesignedtosupportthem. Itisa12-monthresearchprojectthat aimstoansweronekeyquestionthatwill informourworkasanorganisationgoing forward;Whatisqualityoflifeasdefined bythecommunityofpeoplelivingwith anInheritedMetabolicDisorder(IMD)?

Qualityoflife(QOL)isatermusedwidely inthehealthcaresectorandisalso quantifiedwhenusedasameasureto makedecisionsontreatmentsand healthcareservices.Wewanttoknow whatourcommunitybelievesitis–not whattheyaretolditis.

Shouldwebeguidedbymeasurements ofhealth-relatedqualityoflife(HRQoL) likeEQ-5D,whichisusedtodecideifa medicinewillmakeenoughofa differencetosomeone'shealthtojustify thecostofittoourNHS?Doweusethe benefitsassessmentprocess,which decidesifsomeoneiseligibleforspecific support?Shouldwebeguidedbythosein thehealthcaresystemdeliveringthecare andservicesneededtosupporttheIMD community?Orshouldwebeguidedby thepersonlivingwithanIMD,who strugglestomeetafriendfordinner withoutworryingthattherestaurantwill nothaveanythingonthemenuthatis suitablefortheirneeds?Howmuchdowe valuethelivedexperienceofaparent whoknowsthereissomethingnotquite rightwiththeirchildbutfeeltheyarenot beingbelieved?

QOLisnotsimplyimpactedby healthcare,althoughwhenlivingwithan IMDitisundoubtedlyasignificant contributor.Asearchofavailabledata aboutlivingwithanIMDreturnedveryfew reportsaboutitsimpactondailylife experiences.ThisisconcerningtoMSUK. Inthecurrentenvironment,where licenceddiseasemodifyingtherapies existforonly5%ofrarediseaseswemust understandhowthechallengesoflife impactonourcommunity Howdoesa personwithanIMDlivewellwhenno treatmentsareavailableorevenonthe horizonforthem?Whatdoesthatlook likeandwhatdotheyneedtoachieve this?

Whatisqualityoflifeasdefinedbythe communityofpeoplelivingwithan InheritedMetabolicDisorder?

Inherited Metabolic Disorders and Rare Disease

Thedefinitionofararediseasevaries dependingwhereintheworldyoulive.In theUnitedKingdom(UK),theEuropean definitionof1in2,000peoplehasbeen adopted(1)todirectpolicies,services andsupporttothisdefinedpopulation. Therearemorethan6,000differentrare diseasesrecordedintheEuropean Orphanetdatabase(2)affectingas manyas1in17peoplelivingintheUK(3).

IMDsareoftenclassedasrare,with figuressuggestingthatanIMDwillbe presentinasfewas1in800–1in5,000 newbornsacrossalldisorders(4).IMDs

arealargeclassofraregeneticdiseases, withdatasuggestingthereareover500 differentIMDs(5,6)Theyaretheresultof anenzymeorhormonedeficiency affectingthemetabolicpathway.

Thisdelaymaybeexacerbatedbythelack ofspecialistknowledgeofrarediseases amongsthealthcareprofessionals(9).

In2016,anNHSreportindicatedthatthere werejust15consultantsspecialisingin metabolicmedicineacrossthewholeof theUK(10).Thisisaworryingtrendwith morerecentfiguresfromresearchin2023 highlightingthelackofspecialistservices andsuggestingthatonlyhalfofthose livingwithanIMDinEnglandandWales haveaccesstoaspecialistintheirIMD(11)

AdiagnosisofanIMDcanbringvery difficultchallenges;cognitiveimpairment, braindamageandlife-threateningcomas aresomeofthecomplicationsassociated withthesixIMDsincludedontheUK newbornscreeningpanel(12).Thisis furtherconfoundedbythelackofdisease modifyingmedicinesor‘cures’available forthemajority(13).

AtMSUK,wewanttoknowwhatspecifically canimprovethelivesofthoselivingwitha raredisease.Knowingthiswillallowusto dopurposefulworkonbehalfofourIMD community.Wearetheonlypatient organisationofferingsupporttoall20,000+ peoplelivingwithoneofover500IMDsin theUK.

The UK Rare Disease Framework

TheUKRareDiseaseFrameworkisapolicy designedspecificallyto“deliverbetterhealth outcomesandimprovethelivesofthoseliving withararedisease”.Ithashighlightedpriority areasthateachUKnationmustconsiderwithin theirimplementationplan(14).

Thepolicylandscapeforrarediseasesis dominatedbythisframework.Eachof theprioritieswithintheUKRareDisease Framework(RDF)highlightstheneedto deliverimprovementsinthehealth outcomesforcommunitieslikeours. However,thereisminimalfocusonhow theirlivesbeyondhealthcarecanbe improved.Similarly,themeasurements commonlyusedtodetermineaccessto medicinesandtreatmentsareoften groundedinhealth.Health-related qualityoflifemeasurement(HRQoL)is oftenagenericmeasurement,whichhas beenshowninotherprogressiverare diseasestolackspecificity,failingto capturemanyofthefactorsimportantto everydaylife(15).Theseincludefactors reportedasimportanttotheIMD communityincludingaccessingsupport witheducation,employmentandjob opportunities,socialcareandfinancial assistance(16).

IftheprioritiesoftheRDFdeliveragainst thepolicyintentof“improvinghealth outcomes”,thiswillindeedbeapositive stepforwardforpeoplelivingwithanIMD andthewiderrarediseasecommunity.If itsintentisrealised,peoplewouldseea morestreamlinedhealthcaresystem, wherethey;receiveanearlydiagnosis, engagewithhealthcareprofessionals whounderstandthedifficultiesofrare conditions,aremanagedbyamultidisciplinaryteamwhoadopta coordinatedapproachtothedeliveryof theircare. Iftheyareveryluckytheir conditionmaybeoneofthe5%ofrare diseaseswithanapproveddisease modifyingtherapythattheycanaccess ontheNHS.

However,itisnotclearhowitwillimprove thelivesofthoselivingwitharare diseaseifitfailstodriveforwardspecific actionsthataddresstheirwiderneeds. Willithaveanimpactontheadditional supportservicesthatpeoplefromthe IMDcommunityrelyon?Howwouldany impactbemeasuredoutsideofa healthcaresetting?

THOUGHTS INTO ACTION - Research methodology

MSUKareinterestedinmovingbeyond statistic-basedresearchthattellsushow manypeopleshareacertainexperience. Instead,wewishtounderstandwhythese peoplehavethatsharedexperience.For thisreason,wechosetoapplya qualitativeapproachtoourresearch, usingresearchconversationsthatwere ledbytheparticipants.

Aresearchmethodknownasgrounded theory(GT)wasappliedinthestudy GTsets outtogenerateatheory.Thistheoryissetin thedatathathasbeencollectedand interpretedtounderstandtherelationships andbehavioursofspecificgroupsofpeople. Itaimstounderstandthemainconcernofa particularpopulationandhowtheymanage anddealwiththatconcern.Thismethodwas appliedtogenerateanunderstandingofthe elementscontributingtothedailylived experienceoftheIMDcommunity, specificallywithintheframeworkoftheir perceptionofqualityoflife.Itallowspeople tosharewhattheyarecomfortablesharing, andwhattheyfeelisrelevant.

What is a Research Conversation?

Participantswererecruitedusinga self-referralprocessinresponseto targetedemailsandasocialmedia campaign,supportedbyorganisations fromacrossthewiderraredisease community.Aspartofthecampaign, participantswereaskedtoself-referif theylivewithanIMDoriftheycarefor someonelivingwithanIMDwhose communicationneedstheyalso support.Thisbroadapproachwas usedtolimitanypotentiallybiased assumptionsaboutparticipants;while acknowledgingthatparticipantsare unlikelytoberepresentativeofthefull IMDcommunity.

Participantswhoindicatedwillingness toparticipatewereaskedtosigna consentform.Onceconsentforms werereceived,aninvitationto participateinaresearchconversation wasissued.Theresearch conversationstookplacebetween April2023andJune2023andwere heldvirtuallyontheZoomplatform.

ResearchconversationswereconversationsbetweenoneofMSUK’sresearchers andtheparticipant Researchconversationsfollowedapre-determinedintroduction, followedbyconsentquestions Allresearchconversationswererecordedforanalysis Each researchconversationstartedwiththesameconversationseed“Iamverykeentolearn aboutyoureverydaylifeandaboutwhatmatterstoyou.Idonothavealistofquestions thatwehavetogothroughandtherearenorightorwronganswers.”.Subsequently, conversationswereledbytheparticipant.Additionalconversationseedswerepredeterminedincaseconversationsstalled.Attheendoftheresearchconversation,the recorderwasswitchedoffandparticipantswerethankedfortheirtimeandeffortandasked abouttheirexperience.Safe-guardingmeasureswereinplaceincasepatientswere distressedordisclosedconcerninginformation.

THOUGHTS INTO ACTION - Research methodology

Allconversationsweretranscribed andde-identified.Eachtranscriptwas readandcodedbythegrounded theoryresearcher.A‘code’orlabel summarisingatopicwasassignedto eachkeytopicdiscussedbythe participantsandrecordedusingthe Quirkos(TM)analyticsoftware.Codes developedasmoreconversations wereanalysedandweregroupedto formconcepts.Subsequently,broad groupsofconceptsformed categories,whichwereusedasthe basisforthetheorythatwas generated.InlinewithGTmethods, thedifferentactivitiesincludingthe conversationsandanalyseswere conducted“sequentially, simultaneously,serendipitouslyand scheduled”(17).

Thefinaltheoryisbasedondata analysedandcodedfrom57 participants,representingover30 differentIMDswhoaccessed servicesandsupportacrossallfour nationsoftheUK.

Limitations of research

pARTICIPANT BREAKDOWN

List of IMDs represented by participants:

AlexandersDisease,APBD,ASA,CPT, Cystinosis,EPP,FabryDisease,GA1,GSD, HCU,HFI,HHH,HPP,LCFAOD,LCHADD,MADD, MCADD,MPSIV,MSUD,OTC,PDD,PKD, ProlidaseDeficiency,SLOS,TFP, Tyrosinaemia,UCD,SuspectedIMD, UndiagnosedIMD

Werecognisethereareanumberoflimitationsassociatedwithourrecruitment methodfortheresearch.Theseincludetheself-referralrecruitmentmethodforthe research,whichmayhaveexcludedcertaingroups;theuseofthevirtualplatform, Zoom,toconducttheresearchconversations;ourdecisiontonotcollectdataon protectedcharacteristics,andtheinclusionofparticipantsfromthefourUKnations.

Ethical Approval

TheresearchreceivedapositiveethicsopinionfromtheUniversityofPortsmouth Ethicsreference#:23/ETHICS/001onthe31stofMarch2023.

Personliving withIMD(16 yearsofage orover)

Childunder16 yearsofage livingwithIMD

Parentorcarerof personlivingwith IMD 31 2

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Taking Directed Action in Different Contexts of Belief: A Grounded Theory

“Ithinkthat'swherepeopleneedtounderstandinalittlebitmoredepth, thatit'snotjustthemedicalsideofthingsthatpeoplewiththesedisorders [areaffectedby],it’stheirday-to-daylivesthatarebeingaffected.It'sthe socialsideaswell.”(TiAParticipant,2023)

Itmayseemobviousthatpeoplein everydaylifewilltakeactionstoavoid harm.Infact,Hippocrates’famousquote of“FirstdoNoHarm”hasbeenaguiding principleinmedicalethicsforcenturies. However,imaginelivingyoureverydaylife assessingsocialengagements,hospital visits,commutingtowork,feedingyour familyandmanymoreoftheactivitiesthat mostofustakeforgrantedfortheirriskof harmbecauseothersfailtounderstandor believetherisksyouface.Thisisthereality theIMDcommunitylivewith.

Thetheoryderivedthroughourresearchis basedonthesharedandimportant concernofpeoplelivingwithanIMD:the fearoffallingthroughagapandcomingto psychologicalorphysicalharmasaresult ofthisfall.AllpeoplelivingwithanIMD haveacarefullywoven‘net’ofstructures thatnurture,protect,develop,andsustain them.

EachpersonlivingwithanIMDhasa personalnet,whichconsistsofseveral sections.Netsarewovencarefullyfrom themomentsymptomsofanIMDstartto occur.Creatingandmaintaininga‘net’ canbeemotionallyandphysically exhaustingandisanongoingprocess throughoutthelifeofapersonlivingwith anIMD.Ifsymptomsoccurbefore adulthood,parentsand/orcarerstake responsibilityincreatingand maintaininga‘net’,whichinmostcases isslowlytransitionedtothepersonliving withanIMD,astheygrowolder.

Inthisreport,weusethemetaphorof a‘net’toexplainthestructuresthat nurture,protect,developandsustain thoselivingwithanIMD.

PeoplewithanIMDarenotuniqueinhavinga ‘net’.Weareallsupportedinlifebypeople, systemsandstructuresthatallowustolive.We gotoschoolorwork,havefriendships,receive healthcareandweaccessbothfinancialand othersupportfromthestateatvariouspoints inourlives.Thesestructuresarewhatenable peopletoliveafulfillinglifeandtheyforma metaphorical‘net’supportingpeopleliving withanIMD,asidentifiedwithinourresearch.

Taking Directed Action in Different Contexts of Belief: A Grounded Theory

Toovercomechallengesandtoattempttoliveas‘normal’alifeaspossible-withthe strongestsupport‘net’possible-peoplelivingwithIMDsorthosewhoprovidetheir care,willtakeveryspecificanddirectedactions. Theseactionswillbedependent upontheindividual’slevelofphysicalcapacity,theirowncapacitytounderstand, andtheunderstandingandbeliefofotherswithinthestructuresoftheir‘net’ These threeaspectscanbepartofthepersonlivingwithanIMDinvariousways.Asaresult, theresearchtheoryderivedinourstudysuggeststhattheIMDcommunitycanbe definedasspecificgroupsor‘typologies’;Managing,FittingIn,RoutingtoLive,Being HeldandHiddenPeople.Theprogressionandmanagementofaperson’sIMDmeans thatispossibleforthemtotransitionbetweengroupsatdifferentstagesoflife, dependingonhowtheirIMDaffectstheirphysicalcapacity,theircapacityto understandandthebeliefofotherswithintheir‘net’.

typologies

Peoplewithhigherlevelsofphysical capacityandcapacitytounderstandare morelikelytobe‘managing‘andare describedashavingastronger‘net’.They areoftenintheirlateteensorareadults andwillhavehadtheirdiagnosisfora while.Peoplewhoaremanagingare complyingwithdietaryguidanceand adheretomedicationschedules. Generally,theyarelikelytobeinasettled periodand,withtheexceptionoftheirIMD, areconsideredhealthy.Managingtheir IMDallowsthemtotakeholidays,work andsocialise.Nonetheless,theywilloften stillhavetoplan.

Forexample,oneparticipant toldus:

“Ithinkthat'swherepeople needtounderstandinalittlebit moredepth,thatit'snotjustthe medicalsideofthingsthat peoplewiththesedisorders [areaffectedby],it’stheirdayto-daylivesthatarebeing affected.It'sthesocialsideas well.”(TiAParticipant,2023)

Taking Directed Action in Different Contexts of Belief: A Grounded Theory

Whenpeoplehaveanestablishednetthatworkswellitimprovesthequalityoftheir life.Ourparticipantssharedstorieswheretheyare‘managing’andthereforedonot needto‘route’asmuchasothers.However,itisourreflectionthatparticipantswho sharedpositiveaspectsoftheirqualityoflifemorereadilywerethosewhohavehigher physicalcapacityandcapacitytounderstand.Wealsoreflectontheimpactof upbringingandfamilialsupport;childreninheritthenettheirparentsestablish.

Oneparticipant,an11-year-old boyandhismum,sharedtheir experienceofastrongnet supportingagoodqualityoflife:

“We'vegotagoodteamat[the hospital].AndI'vegotthedirect emailforanutritionist…wehave instantaccessto[thehospital].

Wewouldphonethemupand explainthesituationandthenwe gostraightintothechildren's wardwheretheypreparehimfor adripprettyquickly.Wehave quiteapositiveoutlookonlife’’.

(TiAParticipant,2023)

Anotherparticipantexplicitly recognisedtheimportanceof theirupbringingandoutlookof theirparents:

“I'mveryprivilegedtohaveparents thatkindofapproacheditthat way...I'vegotnodoubttheywere worriedsickattimes[but]they've kindofpushedtheboundariesso thatIcouldgoonandhavealife[in which]I'mnotconstrictedbymy IMD.AlthoughIdealwiththings safely,andmakesureI'mnottaking stupidrisksthatIdon'tneedtotake. ButI'mawarethatI'mreallyluckyto havehadthat.”(TiAParticipant, 2023)

Taking Directed Action in Different Contexts of Belief: A Grounded Theory

Ourresearchfoundthatmanychildren undertheageof18wereableto‘fitin’ duetothesupportandmanagement theirparentsandcarersprovideon theirbehalf.Duetotheirage,theyoften havegreaterdegreesofphysical capacity,whilehavinglowerdegreesof capacitytounderstand.Iftheygrowup withastrong‘net’inplacetheymay learntomanagetheirownIMD Nonetheless,thisoftendoescome atanemotionalandphysicalcost, withtheirparent(s)orcarer(s) planningand‘routeing’tomakelife aseasyaspossibleforthem.

Oneparenttoldus:

“Thingsareasnormalasthey canbe,there’sanawfullotgoing oninthebackground.Butfor [ourdaughter],herlifeisnormal. Like,mylife,myhusband’slifeis notnormalinthemanagement ofher.Butfor[mydaughter],it’s asnormalasitcanbeforachild herage.Untilshe’sunwell.”(TiA Participant,2023)

PeoplelivingwithanIMDoftenendupin apositionwheretheyneedto‘routeto live’duetoacrisisorworseningoftheir (possiblyundiagnosed)IMD.Asaresult oftheirIMDcrisisorworsening,they havealowerphysicalcapacity combinedwithahigherdegreeof capacitytounderstand‘route’andplan toavoidgapsandtolive.‘Routeing’ behaviourcaninvolveadaptingplans toconserveenergylevels,planninga routetoensureaccesstodisabled toiletsorchangingcareerstosupport homeworkingandmedication regimens.Successfulmanagementof theirIMD,effectivetreatmentoran organtransplantmaymovethese peoplefrom‘routeing’to‘managing’.

Oneparticipantshared:

"SoIwasmassivelyintohorse riding.SoIcan'tdothat anymore.Soagain,itwaslike, thosethingsstopped.…There's certainthingsIcando.Icango swimming,Icandostufflike that.Butit'snotthesame.Not thesameasgallopingacrossthe field."(TiAParticipant,2023)

Taking Directed Action in Different Contexts of Belief: A Grounded Theory

Those‘beingheld’arereliantonthe supportofothers Theirparentsor carers,healthcare,schoolsorsocial structures,suchassocialservices,can beinvolvedandhaveresponsibilityfor keepingthemsafefromharm.Dueto theirrelianceonothers,these individualswillbeparticularly vulnerableto‘fallingthroughtheirnet’if theirsupportsystemfailsthem.

Oneparticipanthighlighted herpastexperienceof‘being held’:

Theywillexperiencelife‘inthemoment’ withoutmuchthoughtorplanningfor theirfuture.

“Ihadaveryhands-onmother, andIstilldo,whokindoftook careofeverythingwhenIwas younger.Ithinkyeah,[Iwas] probablyfivewhenIreallyknew something'sdifferent,butit's takenmealongtimetoworkout exactlywhat.”(TiAparticipant, 2023)

Forsomepeople,theirIMDmayremain‘hidden’andundiagnosedwithminimal symptoms.Theyoften‘manage’theirsymptomsor‘fitin’,notfully understandingtheimpactithasonthemuntiltheystarttorecognisetheir symptoms.Almosteveryconversationwithinourresearchfeaturedastoryofthe longanddifficultprocessofreceivingadiagnosisandthelackofunderstanding andbeliefthatparticipantsfacedfromallcornersofsocietyabouttheir symptomsanddailyexperiences Onceadiagnosisisconfirmed,these previously‘hiddenpeople’maycontinueto‘manage’or‘fitin’,ormaystart ‘routeingtolive’,astheirdiagnosismayhavebeentheresultofsymptoms worsening.

Regardlessofphysicalcapacityandcapacitytounderstand,thecreationand managementofa‘net’isdependentonmanyvariables.Inparticular,theresearch hasidentifiedthathavingstrongfinancialstructureswillhelptocreateanetwith strongerhealthcareandsocialstructures.Italsofoundthatknowledge ofthedifferentsourcesofinformationthathelpanindividualtocreate,developand restructurea‘net’iscritical.Therefore,thesecurityofanindividual's‘net’andthe actionstheytakewhencreatingtheir‘net’,willdependontheirfinancialsituation, theiraccesstoinformationandtheunderstandingandbeliefofthosewhoare essentialtosupportingtheirnet.

a context of belief and disbelief

Thecontextinwhicha‘net’iscreated ormaintainedhasahighimpacton thestrengthofthe‘net’.Ourresearch foundthatthemaincontextualfactors impactingthestrengthofthe‘net’are beliefanddisbelief.Beliefcanbe definedasanacceptancethat somethingexistsoristrue,especially onewithoutproof(18).Ontheother hand,disbeliefistheinabilityorrefusal toacceptthatsomethingistrueor real(19).

FortheIMDcommunity,beingbelieved meanstheycanfeelacceptedand understood;theyexperiencenurturing andsupportivebehaviourfromothers, and;theyfeelheard.Itmakesthe managementoftheirIMDandany situationswhere‘gaps’arisewithin their‘net’mucheasiertomanage.

Oneparticipantdescribedthe momentthatledtoherdiagnosis, whichhelpedherstrengthenher ‘net’.Thismomentstartedina contextofdisbeliefand transitionedtoacontextofbelief aftertheparticipanttook directedaction:

"Aftermanyhospitalappointments,I justbrokedownandsaid‘Ishouldnot beintheamountofpainI'minfor somebodywhoisofayoungerageat thatparticulartime’.AndIjustsaid‘I feltveryun-listenedtoandverypalmed off'bytheparticulardoctor,Ithinkat thetimeIsaid‘itjustfeelslikeyou're readinganotherreportfromanother doctor,you'renotactuallymakingyour owndecisionbasedonwhatI'm presenting’.Andtheykindoftookastep backandlookedatmeandsaid,‘Okay, that'saveryfaircomment.We'llrun someothertests.’Andifithadn'tbeen forthat,Idon'tknowifI'dhavebeen diagnosed.”(TiAparticipant,2023)

a context of belief and disbelief

Whatbecameclearthroughourresearchis thatourIMDcommunityaremostvulnerable tothenegativeimpactofdisbeliefanda lackofunderstandingwhentheyarefalling throughagapintheir‘net’.Theyhave experiencedavarietyofattitudesincluding ableism,intrusion,apathyand misunderstanding,whichhaveresultedin behavioursincludingrejection,bullying, socialsmoothinganddeprioritising.

Oneparticipantdescribedthe momentthatledtoher diagnosis,whichhelpedher strengthenher‘net’.This momentstartedinacontextof disbeliefandtransitionedtoa contextofbeliefafterthe participanttookdirected action:

“They'veputitonmyrecordthat it'saneatingdisorder.Sothey automaticallyassumeit'sthat whenI'vetoldthemitisn’t,itis this,butyougiveuptellingthem intheend.Yougettoapoint whereyoujustwanttogetbetter andgetoutofthere.Youjust giveup,there'snopointarguing withthembecauseyouknow theydon'tbelieveyouanyway.”

(TiAParticipant,2023)

“Iwaspushingabuggywithmyhandsinagony.Anddoctorswere saying,there'snothingwrongwithyou,becauseIwasstillusingmy hands.Ikeptsaying,Idon'treallyhaveachoice.Iwouldbeinbed withicepacks,hotwaterbottle,handsstretchedoutontwopillows. Thedoctorwhodidtakeitseriouslyrangmetoapologise.Ihadmini fractureseverywhere.Theywereinshockthatthathadbeenjustso badlymissed.It'sveryinterestingseeinghow,overtheyears,various specialistsliterallyjustlookatwhatsomebodyelsehaswritten,andthey don'tlistentousatallastowhatwepresent.”

(TiAParticipant,2023)

MedicalGaslightingisa phrasebeingincreasingly employedbythoseinthe rarediseasecommunity todescribetheir experiencesofbeing dismissedordisbelieved. Examplesofthisin practicewereshared throughoutourresearch.

a context of belief and disbelief

Thetypesofattitudesdescribedareunfortunatelyreflectiveoftheexperiencesof manypeoplewhohavereportedtheirexperiencesofnotbeingbelievedandeven beingaccusedof‘faking’theirneeds,particularlywhentheirimpairmentmaynotbe visible(20).Inarecentresearchproject,ChallengingDisbeliefandDisregardinthe LivesofPeopleLivingwithChronicIllness,theissuesandexperiencesofpeoplewho arelivingwithchronicillnessandenergylimitingchronicillnesswasexplored.The projectidentifiedsimilarexperiencestothosegiveninourresearch,withpeople describingdisbelief,disregardandmedical-gaslighting,whichresultedinchallenges accessingadiagnosis,treatmentandsocialcare,benefitsandwelfaresupport(21).

Throughoutaperson’slifetime,theywillexperiencemanysituationsinwhicha contextofdisbeliefwillbepresent,someofwhichmayhavedirectandirreversible consequencesontheirphysicalorpsychologicalhealth,potentiallyresultingindeath. Thepeopletaskedwithprovidingtheservicesandsupportthatcomprisean individual's‘net’needtobelievethemandsupportthem,or,attheveryleast,not blocktheirattemptsto‘strengthentheirnet’.

“WewenttoA&Eabouteighto'clockontheevening.Andhespentall nightinA&E.Andtheybasicallyjustsaid,‘We'vetestedforeverything, we 'veputhimonantibiotics,he'snotmakingimprovementandwe don'texpecthimtomakeitinthemorning’.Basicallywe'vegotawait forourbabytodie.Theysaid‘hisheartisjustgoingdown.He'sgone intoacomaandwedon'tknowwhy’.Atthreeo'clockinthemorning,a studentdoctorcomesinandsaid,‘Iknowwe'vedoneallthetests[but] there'sonemore.Sowecancalloutthatwe'veliterallydoneeverything I'mgoingtodothistest’anditwasatestforammonia.Andthatone studentdoctorsavedmyson.”

(TiAparticipant,2023)

living well with an imd

Withinthissectionofthereport,wewillexplore thekeyareas,identifiedbytheparticipantsin ourresearch,wheregapsinthe‘net’canimpact ontheireverydayqualityoflife.

Thesesixkeyareasarenotconclusive.Instead,ourfocusreflectstheareas identifiedinourresearch:identity,employmentandbenefits,food,healthcare, transitionsandmentalhealth.

Wehavealsodiscussedaccesstotreatmentsandclinicaltrialsasastandalone issuethat,whilstnotidenfitedasa‘gap’,isanareaofinterestforourcommunities.

Wewillexploretheissuesandopportunitiesineacharea,usingtheexperiencesof ourparticipants,andmakerecommendationstohighlightwhereservicesand supportcanbetterenableourcommunityto‘manage’withoutthefearoffalling. WehopetoprovidesolutionsthatallowpeoplelivingwithanIMDtolivewell,now andinthefuture.

identity - a lived experience

Oneparticipantdescribedthreeissuesthathadimpactedtheirconfidence:lack ofknowledgeabouttheirconditioninmedicalservices,being“wrappedupin cottonwool”bytheirfamilyandhowthe“outsideworldviewed”them.They describedhowchallengingtheseissuesdirectlymadepositivechange;whentold byahealthcareprofessional(HCP)thattheyshouldnotattendamusicfestivalor drinkalcoholtheyreplied,“IsthereanysupportingevidencetosayIcan’tdo this?”.Whentherewasnoevidenceoffered,theywentaheadwiththeir attendance,dancedandhadadrinkatthefestivalandsubsequentlytheirHCP hasbeenaskingthemtosharehowtakingreasonablerisksandhavingnew experiencesaffectstheminordertolearn.Theyalsobelievethattheresulting increaseinpersonalconfidenceandmoreindependencehashadadirectimpact onhowothersperceivethemandsaidnowthatthey“walktall”otherpeopleare friendlier.Forthisparticipantwideningandchallengingthe‘net’thathadbeen designedforthemhasbeenthekeytoincreasedqualityoflife.

identity: rare disease and disability rights

“Youdon'thavetolookdownatme.Like,I'mahumanbeing.I'mstill,you know,livingandbreathing.I'mjustsick.Oryouknow,Ihaveamedicalissue. [That]doesn'tmakemeanylessofahumanbeing”(TiAParticipant,2023)

Thereisagrowinginterestinthe intersectionbetweendisabilityrights andtherightsofthosewithrarediseases –andwhetherpeoplelivingwitharare diseaseidentifyasdisabled Our researchidentifiedthatthereare differentopinionsintheIMDcommunity astowhetherlivingwithararedisease meansalsoidentifyingasadisabled personorpersonwithdisabilities.This topicwasexploredduringMSUK’s2021 RareThinkingFestival.Thepanellists discussedwhether‘consideringoneself’ or‘beinglabelled’asdisabledcan contributetobeingacknowledgedfor theneedforsupportandtheabilityto connectwithpatientorganisationsand thewiderrarediseasecommunity.

Thisreflectsourgroundedtheory–ifIMD communitieshaveapositiveandstrong senseofidentityandsupportive networks,their‘nets’aremoreeffective inachievinggoodqualityoflife.As evidencedinourresearch,manypeople arestymiedinseekingadequate supportbyperceptionsof‘need’andthe onerousburdenofbureaucracythat combinetodelayorcompletelystop peopleapplyingforbenefitsorservices thatmightsupporttheirqualityoflife.

Alongsideindividualidentity,theviews andunderstandingofpeoplewhoform thestructuresofthe‘net’areakey componenttoagoodqualityoflifefor peoplelivingwithanIMD One participant,whobecameunwellintheir thirties,sharedhowotherpeople’s attitudesstoppedthemfromenjoying theirpassionofgoingtothecinema andthetheatre.Theyshared“Ifindalot ofpeoplelookdownonme.Andthey kindoffeelsorryforme,andIdon't wantthat”.

Anotherparticipant,whousesamobility aid,wastold,“you’rewaytooyoungfor that”;oneofmanyexperiencesthat theyfeel“stopsyoufromenjoyinglife”. Itisnotonlythethingsthatpeoplesay thatcanimpactonhowpeoplefeel aboutthemselves;behavioursand actionshavebeenreportedasequally damaging.Oneparticipantexplained, “it’sthewaytheylookatyouaswell”.

identity: rare disease and disability rights

IntheUK,legislationinplaceto supportrarediseasecommunitiesis framedthrough‘disability’(22,23,24).

Disabilityisoneofthenineprotected characteristicscoveredbythe EqualityAct(2010),whichprovides disabledpeoplewithmeasuresto protectthemfromdiscrimination. ThereforepeoplelivingwithIMDswho donotidentifyashavingadisability orbeingdisabledpeoplemaynot accessthefullbenefitsassociated withthisprotectedcharacteristic. Rarediseasespecificpolicydoesnot coverthis‘gap’,theUKRareDisease Frameworkdoesnotconsidersocial andfinancialneedswithinits prioritiessooursisanunderserved community.

ManyadultparticipantslivingwithanIMD livewiththeirparentsandhaveacareror personalassistanttosupporttheirdaily needs.Unfortunately,havingacarerin attendanceallthetimeledoneparticipant inourresearchtofeel“lookeddownupon” fortheirperceivedlackofindependence, whichaffectedtheirconfidenceandquality oflife.Anotherparticipantexplainedthat theyfaceprejudiceassumptionsabout livingwiththeirparents,“Ilookafterthem money-wise,butyouknow,peoplejust lookeddownonme.”

Participantssharedexamplesofhow havingpositivesocietalinteractions improvestheiroutlookandqualityoflife, “It'sreallyeasytofallinthetrapofkind ofexcludingyourself,andgoing‘ohI can'tdothatbecauseI'vegot[anIMD].’

Butwithabitofforethoughtand planningyoucanfindwaystostillget enjoymentandgetthoseexperiences withoutnecessarilyputtingyourselfat risk Andthat'ssomethingthat'skindof,I suppose,camefrombeingakid.And beingtaughtthatactually,everybody's gotsomethingeverybodydealswith thingsdifferently’’.

Thisisnotsimplyanissuefacedbypeople livingwithIMDsorthewiderrarecommunity forthatmatter.TheNationalDisability Strategy“makesacalltoaction”across societywithplansto“buildanational conversationaboutdisabilityanda movementforchange”(25).Thisstrategy recognisestheneedto“transformthelives ofalldisabledpeople”.Changingsocietal viewsand‘levellingup’theopportunitiesfor peoplewithrarediseases-whetherthey considerthemselvestobedisabledornotarecrucial.

Withoutachangeinattitude,peoplefrom theIMDcommunitywillcontinueto experiencenegativeattitudesand discriminationintheireverydaylives.The currentUKRareDiseaseFrameworkgivesa nodtothefactthatrarediseasepolicy mustalignmorecloselywithwiderpolicy.If thereisastrengtheningoftheprotections ofdisabilityequalitypoliciestomore explicitlyincludepeoplewithararedisease -thiswouldbeagoodstart.

Recommendations: IDENTITY

TheIMDcommunityandthewiderrare diseasecommunitymaybenefitfrombeing moreawareofthelegislationthatprotects themandsupportsaccesstoservices, recognisingthattheirownidentityaround disabilitymayimpactonthis.Creating greatercross-sectorengagementbetween organisationsrepresentingrarediseases, disabilityrightsandlong-termchronic conditionswillstrengthenthevoiceof communitieswhoexperiencediscrimination anddisbelieffromallsectorsofsociety

MSUK WIll:

Designanddelivera‘RareDisease&DisabilityEquality’TrainingSessionin2024 fortheIMDandwiderrarediseasecommunity

OfferbespokeadvocacysupporttoallIMDcommunitymemberswhosuffer discrimination

Launchour‘LivingwellwithRareDisease’campaign,focusingoneverydayquality oflifeinpartnershipwithothercharitiesandorganisations

Amplifyandpromotethevoicesof‘livingwell’IMDinfluencersthroughourYouth MetabolicAdvisoryCouncil

We Would Like To See:

Peoplelivingwithrarediseasestobeconsideredasaspecificgrouprequiring considerationinEqualityandImpactAssessments

SpecificreferencetopeoplelivingwithrarediseasestobeaddedtotheEquality Act2010EqualityandHumanRightsCommissionguidance

OpportunitiestoengageandrepresenttheIMDcommunityintheresearch projectImaginingBetterFuturesofHealthandSocialCarewithandforPeople withEnergyLimitingChronicIllnesses

Stakeholdersrepresentingmentalhealth,longtermconditions,disabilityrights andthewiderrarediseasecommunitytoadvocateforanintegratedapproach tothedevelopmentofpolicies

Ableismemphasises discriminationinfavourofnontdisabledpeople(26).Although hislanguagewasnotusedby ourparticipantswewantto encourageourcommunitytobe awareoflanguagethatcan describethethingsthey experiencetofurthertheirability toadvocatefortheirrights

Guestcontribution,Dav

Accessingbenefitsandsupp impactofsocietalviewsand aroundpeoplelivingwithara disease

Ilivewithanultra-raredisease,aswellass disabilities.Iamoneofanestimated20peo withmycondition.Itishardlivingwitharar otherdisability.Everydayisachallengeins

Ihavearealmixofinvisiblehealthaspects Asaresult,Ifeelimpostersyndromeallthe time.Ifeellikepeoplearejudgingmeusingabluebadge,thepriorityseatsonpublic transport,orthespecialassistanceatairports.Sometimesitfeelslikesocietystillthinks youcanonlybedisabledifyouareawheelchairuser.Beingambulatorydisabledlike mecanbeveryfrustratingsometimes.

ImpostersyndromeisfeltevenstrongerwhenclaimingdisabilitybenefitssuchasPIP, ESA,orUniversalCredit.WhenIfillouttheforms,itmakesmefeellikeIamnotasillasI reallyam.Theformsarenotpleasanttocompleteandforcemetobehonestabout howunwellIreallyamandwhatIreallystrugglewith.Itisrough!Societydoesnot understandhowmuchhealthcanfluctuateandformsmostdefinitelydonot understandthis.Plus,thereisalwaystheperceivedscroungingimagethatcomeswith claimingbenefits.Manyforgetthattheyprobablyclaimedchildbenefit–thatisa benefittoo!

Separately,thereisahugeinformationgapwhenitcomestoapplyingforbenefits.For somepeople,thisisbasedonthemanyhorrorstoriestheyhaveheardaboutdisabled peoplebeingrefusedbenefitsthattheyshouldbeentitledto Thesestoriesputpeople off.Inothercases,suchasmyparents,itcomesdowntobeing“intheknow”.They neverclaimedchilddisabilitybenefitforme.Theyneverknewaboutgettingasocial worker.Theyneverseemedtoaccesssomeoftheservicesavailabletothem–becausetheyarenotalwayseasytofind.

Andevenwhenyoudoreceivebenefits,whichinsomecasescanbeclaimed alongsideregularincomefromajob,itisoftennotthatmuchmoney.Nonetheless,the benefityoudoreceivecanbeimmenselyhelpfulfortheextracoststhatcomewith beingdisabled.Especiallyinthecurrentcostoflivingcrisis.

‘’Ineverknowhowexactlysocietyperceiv someonelikeme’’

EMPLOYMENT AND BENEFITS

‘’Idon'tliveoffthestate.AndevenifI did,what'sittodowithyou?”

ItiscommonforpeoplelivingwithanIMD toexperiencefatigueandpain,whichcan makeitdifficulttomaintainajobwithout additionalsupport.Ourcommunity sharedmanyissuesduringourresearch, includingexamplesofworkplacebullying andemployersattemptingtoterminate theiremployment

IntheUKitisagainstthelawfor employerstodiscriminateagainst disabledpeople;anemployermustmake ‘reasonableadjustments’toavoid disabledpeoplebeingputata disadvantagecomparedtonon-disabled peopleintheworkplace(22)However,our participantsdescribedmanysituations wheretheyeitherstruggledtogetthese ‘reasonableadjustments’ortheywere onlygrantedonreceiptofcredentials confirmingtheirIMD.Theseexperiences aresupportedbytheresultsofthe MetabERN’s2021survey(7),whichdrew attentiontothelackofflexibleand suitablerolesintheworkplacewherean IMD‘resultedinadisability’.

Oneparticipantdescribedfeeling “valued”againinlifeoncommencinga jobwithinthehealthcaresector,where flexibleworkingwasinitiallyagreedwith acknowledgmentoftheadditional supporttheywouldrequireperforming theirduties.Withoutaformaldiagnosis,it wasdifficulttoclearlyidentifythe difficultiesexperiencedandthisledto stressandillhealth.

Whenreferredtotheoccupationalhealth team,thelackofsupportledthe participanttofeel“You'vegotnooption, you 'vejustgottogiveup Theyweren't, theyweren'tpreparedtochangethings forme,youknow?”

Alackofemploymentsupportsitsona backgroundoffinancialpressures.The widereconomicimpactoflivingwithan IMDcanbewitnessedthroughMSUK’s CostofLivingReport(March2023)which foundthatlivingwith,orcaringfor someonewith,ararediseaselikeanIMD mayaffecttheemploymentandincome opportunitiesoffamilymembers(26). Over50%ofrespondentshavea householdincomesignificantlylessthan themedianfortheUK.Furthertothis, Scopestatesthatlifeisalreadymore expensivewhenyouaredisabled,with extramonthlycostsofnearly£975on average(27).Thisisexacerbatedbya lackofflexibleandsuitablerolesinthe workplace,creatingfinancialpressuresin familieswhooftenrequireexpensivebut essentialfoodsupplementsanddietary products(7).

EMPLOYMENT AND BENEFITS

Almost82%ofnon-disabledpeople betweentheageof16-64were employedcomparedtojustover50%of disabledpeopleinthesameagegroup (28).

DisabilityRightsUK’sdisability employmentcharterhasninekeyasks oftheGovernment,addressingthe employmentgaps,paygaps,job satisfaction,andworkplacewellbeing thathaveallbeenidentifiedasissues facingdisabledpeople(29)

Without incomefromemployment, manyofourparticipantsdescribed howtheybecamemoresusceptibleto thedevelopmentofgapsin their‘net’.

Accesstobenefitsandfinancialsupport arekeyissuesforourIMDcommunity. Whenaskedabouttheirexperience accessing,orconsideringaccessing, benefitsintheUKsystem,respondentsto MSUK’sCostofLivingreportsaidthat, despitebeingeligibleforbenefits,many theprocesswas"lengthy" , "stressful"and “startling".Duetothelengthofthese processes,andthehighburdenonthose affectedjugglingwork/caring/livingwith thecondition,35%ofrespondentsdidnot claimbenefitsandthosethatdid,didnot receivetheirfullentitlement.One respondentdescribed''dreading’’ receivingtheirchild’sbenefitsrenewal letterbecauseitis‘’veryin-depth,some ofthequestionsareabitstrangeand you’vegottobasetheanswersonyour 'worstday’tobeconsidered’’(26).

Alongsidetheadministrativeburdenand accessibilityissueswithaccessingsupport, manyparticipantsareimpactedbywider societalviewsonpeoplewhoutilisethe benefitssystem.

“I'vehadanotheronewherethey accusedmeoflivingoffthestateand fakingit.Arandompersononthestreet.I waslike,whatyoumeanlivingoffthe state?Iworkfulltime.Isaid,theonly benefitsIgetisPIP.Andthatpaysformy car.Like,Idon'tliveoffthestate.And evenifIdid,what'sittodowithyou?” (TiAparticipant,2023)

Describingtheexperienceof applyingforbenefits,one participanttoldus:

“Itisbecauseofthetypeof questionsthattheyasked.I’mnot sayingmisleading,butthey’re verylike‘canyoudressyourself?’. Becauseit’ssuchaborderline-or notquitethisornotquitethatthequestionissortofnotquite appropriate.Theydidn’thelpyou answerthem.Theylookatthat andreally,theyshouldlookatthe individual.It’snotrighttolookat everybodythesame,theyshould lookateachindividualcaseand dealwithitaccordingly”.(TiA participant,2023)

EMPLOYMENT AND BENEFITS

Thebenefitsapplicationprocessis lengthyandburdensomeforeveryone andparticularlydifficulttonavigateas someonelivingorcaringforsomeone withararedisease.Theprocessinvolves attemptingtocaptureavastspectrumof peopleandneedsintostandardised forms,asnotedbyoneparticipant.They feltthat“[benefitsassessors]don’tfully understandIMDsatall,notatall”.They foundtheformstobe“gearedaround someonewithadisability,asopposedto someonethathasadisorder”

Oneparticipantdiscoveredtheywerenot eligibleforbenefitsfollowingtheadult onsetoftheirIMD,duetotheirprevious financialposition.Priortotheirdiagnosis theyhadawell-paying,physicaljobthey loved,whichallowedthemtopurchasea flatonmortgage.AstheirIMDprogressed, impactingtheirphysicalhealth,theflat becameunfeasibleespeciallywhen combinedwiththedrasticdecreasein incomefromhavingtochangeroles.This meanttheyhadtorestructuretheir‘net’ andmoveinwithapartner.Theywere unabletoaccessaservicethatshould haveformedpartoftheir‘net’atatime whentheywerefallingthroughagap Withoutanyotheroptions,thisparticipant hadtoresorttocrowdfundingtohelp restructuretheir‘net’

Ourparticipantsfeelthatbenefits assessmentprocessesfocusonneeds relatedmainlytophysicalimpairmentand whatqualifiesasneedingextrasupport, whichcompletelyignoresawholesection ofdifficultiesfacedbyourcommunity.It doesnotregisterthelengthoftime,orthe valueofthattime,tomaintainfooddiaries, calculatethefoodforeachmeal,source thenecessaryingredients,manage prescriptionsandappointments,alongside learning,becominganexpertinyourrare condition,andadvocatingforyourselfor yourchildatmedicalappointments.This listofextraconsiderationsthatmanytake forgranted,isnotexhaustive Thereare questionsfortheadministrationof medicationovernight,butnotforthe administrationoffeedsandsupplements overnight;ataskthatcarriestheexact samestrains.

Thestructuralandsocietaldiscrimination associatedwith,andthebureaucracyof, theUKbenefitssystem,combinedwith whethertheIMDcommunityidentifyas disabled,combinetocreategapsinthe financialstructurestheyrelyontosupport their‘net’.

recommendations: EMPLOYMENT AND BEN

Ourresearchshowsthataccesstosupportandfundingandbeingabletodothis withoutemotionalburdenoronerousadministrativelabourarekeytogoodquality oflife Beingvaluedaspartofsocietyregardlessofeconomicoremployment statusisvitaltotherarediseasecommunity.Abetterunderstandingofthesocial caresectorwouldbenefitourcommunities;thesecomplexadministrativesystems donotalwaysworkcloselywiththehealthcaresystemandahighdegreeof personalmotivationandknowledgecanberequiredforsuccess.

SOCIETAL DISCRIMINATION - A LIVED EXPERIENCE

Oneparticipantsharedhowwordsandactionsofothersmadethemfeel“tentimesworse” . Whilstridingtheirmobilityscooter,theyalmostcollidedwithastrangerwhoshouted“get yourselfa[expletive]job,trustoneofyoulottoalmosthitme”.Thisinteractionhighlights anassumptionthatdisabledpeoplemustbeunemployedand,moreimportantly,that havingpaidemploymentisamarkerofsocietal‘value’.Inthiscase,theparticipantdid workbeforetheadultonsetoftheircondition Whensharingthisinformation,peoplehave responded“wellatleastyou’vedonethings”whichmakesthemfeelasthoughothers perceivetheir‘lifetobeover’ . ‘’It'sliketheyjustviewmeashalf,butbecauseyou'renot capabletodosomethingphysical,whichisterrible. ”

Guestcontribution:StephenKingdom, DisabledChildren’sPartnership

Lookingthroughthewronglens: Thefailureofsocialcarefor disabledchildren

“Socialcare”meansdifferentthingsto differentpeople.

Ifyoujustfollowthenews,youcouldbeforgivenfor thinkingitisjustaboutolderpeople;andevenjustgettingthemoutof hospitals.Butthatignoresthecrucialrolethatadultsocialcareplaysin supportingawholerangeofpeopletolivefulfilling,independentlives.

Similarly,ifyouaskedarandompersononthestreetwhatchildren’ssocialcarewas, theywouldsayitisaboutchildabuseandchildrenintocare. Thevitalrolethat children’ssocialcareplays–orshouldbeplaying–tosupportdisabledchildrenand theirfamiliesisrarelydiscussed

Socialcarecanenabledisabledchildren,theirsiblings,andtheirparentstoenjoythe sameopportunitiesasotherfamilies. Thissocialcarecaninclude,forexample,support inthehome;shortbreaks(respite)toenabledisabledchildrentoenjoydifferent activitieswhilstgivingtheirparentsabreakfromcaring;andequipmentorhome adaptations. Sadly,however,thisisnottherealitythatmanyparentsface. OurFailed andForgotten(30)reportfoundthatonlyoneinsevenfamilieshadthesupportthey neededfromsocialcare.

Whyisthisthecase? Almostinevitably,moneyispartoftheissue.Aneconomic analysiswecommissionedfoundapre-pandemicannualfundinggapofastaggering £573million(31). Butitisalsoabouthowthesystemissetup,withassessmentand supporttoooftenbeingseenthroughachildprotectionlens. Thismeansthatparents ofdisabledchildrenfindthesystemhostileand‘blaming’(32);andevenwheresupport isthere,itisinappropriateforthefamily’scircumstancesoronlyprovidedatcrisispoint.

Therearesomepositivesignsonthehorizon BoththeIndependentReviewofChildren’s SocialCare(33)andthegovernment’ssubsequentLong-TermStrategyforChildren’s SocialCare(34)recognisedtheissuesfamiliesface. Andwewerepleasedthatboth tookupourcallforaLawCommissionReviewofthelegalframework. However,without greaterinvestmentandgreaterpriority,childrenandfamilieswillcontinuetostruggleto getthesupporttheydeserve.

ReadmoreabouttheDisabledChildren’sPartnershipat: disabledchildrenspartnership.org.uk

food for thought

“Oneoftheproblemsissometimes with[myIMD],youdon'tfeeltruly humanbecauseyou'resomuch differentfromeverybodyelse.Yougo out.Andthenyouseeanicecream van.Andeverybodyhasicecreams. Andyeah,Ican'thaveanicecream.”

(TiAparticipant,2023)

Thereisapopularnarrativeinsociety aroundfoodbeingmedicine Formany withintheIMDcommunityfoodis actuallymedicine;itisatreatment essentialinmanagingtheircondition. Despitetheimportanceoffoodin supportinghealthneeds,our communityhavehighlightedissuesin accessingthefoodthattheyneed. Theseissuesrangefromchallengesin accessingappropriatemenuswhen eatingouttofundingthehighly specialiseddietsrequiredtomaintain theirIMD.Thissitsonabackgroundofa cost-of-livingcrisisandtheimpactan IMDcanhaveonafamiliesincome Togethertheseaspectsdirectlyimpact thequalityoflifeofourIMDcommunity, causingthemtofallthroughthenetby beingsingledoutinsocialsituations andenduringfinancialhardship.

Despitetherighttoadequatefood beingrecognisedasahumanright(35) accesstoappropriatefoodremainsa challengeformanyofourresearch participants.Thissubsequentlyledto participants‘routeing’and‘fittingin’ .

Whentheyfoundtheywereunableto ‘route‘or‘fitin‘withtheirspecialiseddiet, theyoftenfellthroughgapsintheir‘net‘. ThedifficultiestheIMDcommunityfaceare compoundedbythewiderissueswithin theUK,witharecentreportbyBarnardos suggestingthatoverhalfoffamilieswho havechildrenunder18intheUKhavehad tocutbackontheirfoodspendingasa meansofsavingmoney.Recentyears haveseensignificantincreasesinlevelsof malnutrition,hunger,andfoodbankusage againstthebackdropofthecost-of-living crisis(36).

MSUK’s2023CostofLivingreportshowed thattheIMDcommunityisnotexempt fromdifficultiesinaccessingfood.Over 85%ofrespondentsstatedthattheyhad tomaintainaspecialiseddiettomanage theircondition.Ofthese,morethan90% statedthattheyhadbeendirectly impactedbyrisingcostsofgroceriesand foodneededtomaintainthisdiet.The reporthighlightedthattheseissuesare notlocalisedtothoseintheirownhome, butalsoaffectthoselivingincare:

"Mydaughterlivesinacarehome;we noticetheyusecheapsourcesofprotein likecheese,bacon,sausages,andham. SheneedsalowGI,cholesterollowering, highproteindiet,likeleanmeat,fish, pulses,fruit,andveg.Herseizuresand behaviourareworse;wethinkshe’s sufferedcognitivedeterioration."Quote fromMSUKCostofLivingReport(28)

food for thought

Thesedifficultiesaroundfoodspeakto agreaterissuearoundwhosocietyis invitingin;whoisdeemedworthyof accommodation,change,and awareness.

Anincreaseintime,planning,androuteing hasbeenhighlightedasathemerunning throughthewhole‘net’fortheIMD community Thesedemandsoncapacity canmeandual-incomehouseholdsdropto single-income,whilstadultsmayface financialhardshipthroughneedingto reduce,orleave,employment.

Thesecircumstancesfurthercompoundthe community’seconomicaccesstofood. Someconditionsaremanagedwithlowproteindiets,somewithlow-fat,somelowsugaretc.Eachoftenreliesonthe popularityof“fad”or“diet”foodstomeet theirspecialiseddietaryrequirement.These foods,suchasveganoptions,areoften higherinprice.Relyingon“moreexpensive” free-fromoptions,“assumingyoucanfind [them]becausetheystop[them]quite regularly”,addsadditionalstrainto financesandplanningtime.Factoringin howeasilymanufacturerscanaltertheir recipesalongsidethismeansthosewho relyonspecialiseddietstomanagetheir conditionmayneedtoregularlycheck; labels;worryingaboutthepotentiallossof afavourite,orreliantfoodthroughchanges thatmayseeminconsequentialtoothers.

Oneparticipantsharedtheirexperience oftheeffortrequiredto‘hold’theirchild onaprotein-restricteddiet.Commercially availablebreadisnotaviableoptiondue totheproteincontentsotheyrelyon prescriptionbread;aprovisionintended toincreaseaccesstoadequatefood. However,toensureaccesstobread,the familymustremembertoorderatleast twoweeksbeforeitisneeded,accounting forreturningtheprescriptionandworking withthesingularmanufacturingand deliverydaysperweek.

Oncedelivered,thebreadneedstobe portionedandfrozen“becauseitgoesoff withintwodays”andcanonlybeordered inabatchoffourloaves.Despite thoroughlyresearchingtheIMDupon diagnosis,theyweremetwiththe unexpectedcostofneedingtopurchase asecondfreezertostorethisprescription foodas“breadalone,fourloaves,isone andahalfdrawers”.Thisparticipantled withfeeling“veryfortunatein[their]jobs andlivelihood”thattheycouldaffordto purchaseanadditionalfreezerandbuild aspaceinwhichtohouseit.

Butwhataboutpeoplewhoarenotthat fortunate?Whereistheaccessibilityand availabilityofadequatefoodforpeople whodonothavethedisposableincome tomeettheseneeds,orthetimeand energytoputtowardstheorganisation requiredoftheseprocesses?

obviouslysaidyoucanthaveanice creamyoucanhaveanicelolly.Shewas quitehappywiththat.Aslongasshe's gotsomethinginplace.”Itrequires confidenceinteachingstaff,theirchild’s friends'parents,orfamilymembersto understandtheIMDsrequirementsand theimportanceoffollowingthem.

Thereisawidespreadmisconception thatcertainIMDsareallergiesandthat theycanbemanagedaccordingly.Asa result,eatingoutpresentschallenges, restaurantsoftenlabelcaloriesbutnot nutritiondetailsontheirfoodandstaff arenottrainedtoprovidethis.One participanthighlighted:

“It'snotalegalrequirementintheUKto havenutritionalinformationavailable forfoodsthatarenotpre-packaged.So ifyoufindaplacewiththem,you're doingwell,andhopeit'scorrect.There's alotofplacesthatdon'tevenhave menusavailable[…]Soyoudonothave anyideaifshecaneatanythingthere” (TiAparticipant,2023)

Recommendations: food for thought

Whenwelookatthestrictprovisionsinplacetoallowpositiveexperiencesforthose withallergies,wemustaskwhythisisnotthesameforrarerconditionswithalternative foodrequirements.Thislackofprovisionandunderstanding,againstabackgroundof disbelief,meansourIMDcommunitymustbothdotheworkthemselvesinaccessing information,oracceptthattheycannotjoinin.

MSUK WIll:

Launcha‘LowProteinChallenge’–providingrecipes,ideasandinspirationforour community

Supportourcommunityinasocialcampaigndesignedtonormalisetheirwayof eatingusingsocialmediaandIMDdietspecificimagery

Providecleareradviceaboutaccessingspecialistdietaryfoodsthroughour IndividualSupportworkandouronlineadvicehub.

We Would Like To See:

TheinclusionofmedicaldietaryneedsinassessmentforDisabledFacilities Grants,administeredthroughlocalcouncils

Prescriptionfoodtobeavailablefreeofchargebeyondtheageof18inEngland, akintoWales,Scotland,andNorthernIrelandservices

Mandatoryproteincontentlabellinginallpublicplacesservingfood

AcleareralertsystemtowarnIMDcommunitieswheningredientschangeon manufacturedproducts

“EverytimeIwentouttoeatata restaurant(wewouldaskfor)plain pasta,don'tputanythingonit,just that.Andthentherestaurants comebackandsay,‘Oh,well,that soundsabitboring.Sowe'veput someoilonit,andsomebutter’.My dadwouldgetreallyannoyedat them.IthinkIwasquiteawarethat therewassomethingdifferent.And thattherewasallthisgoingon.”

(TiAparticipant,2023)

Healthwarningsonproducts areusefulforpeoplewhoare bawareoftheirIMDandmay weahelpfulwarningforthose hoarenot.MSUKsupports compulsoryhealthwarnings beingaddedtoprotein shakes.

Gainingaformaldiagnosisfora rarediseasecanbealongand painfulprocess.Forsomepeople itcantakeuptonineyearsto secureaformaldiagnosis(34), withtheirjourneyfraughtwith misdiagnosis,fear,stress, anxiety,frustrationand uncertaintyand,ultimately,a needtobecometheexpertin theirowncare(35).

TheEuropeanCommissionmadea commitmentin2008toimprove awarenessandknowledgeofrare diseaseswithinEurope,identifyingthe needtoimprovethecodingsystemto enablerecognitionofrarediseaseswithin theserviceandcreateEuropean networkstosupporttheexchangeof information(1).

Unfortunately,itisclearthatalltoo oftenadiagnosisisonlymadeon gainingaccesstoaspecialistwho hasknowledgeandunderstanding abouttheirparticularcondition (37,38,39).Theparticipantsinour researchtoldusthattheyhave experiencedfeeling“brokenand defeated”beforetheyhadreceiveda diagnosis,“feelingdesperatefor informationtounderstandthe trajectoryoftheirchild’sillness”or receivingtwopagesprintedfromthe internetastheonlyinformationand knowledgeabouttheircondition.

Theimportanceofawareness, understandingandbeliefarethe threadsthatlinksourtheory together.Howpeoplelive,fitin, routeorareheldareallimpactedby theunderstanding,awarenessand beliefofthosewithinthestructures oftheir‘net’.

Theseactionshaveundoubtedlygone somewaytoaddressingthewayinwhich specialistservicesrecordandshare informationaboutthemorbidityand mortalityofspecificrarediseasesacross Europe.However,ourparticipantshave toldusthatthisknowledgeand awarenessisnotreachingthegeneralist healthcareprofessionalswhotheyare reliantuponfortheireverydaycare duringandaftertheirdiagnosis.

“Iwentlike,yeah,‘soIthinkI've gotthis[IMD]…...Andthisguysaid ‘[ThisIMD]issorare,ofcourse, youdon'thaveit’.Lookedatthe liverfunctiontestsandsaid,How muchdoyoudrink?Ineverdrank anawfullotapartfromoneperiod ofmylife,aboutsixmonths,when Iwasoutwithmateseverynight afterqualifyingbutwhenIwentto seehim,Iwassaying,‘well, possiblyhalfabottleofcoldlager onsummerday’.‘Sohowmuchdo youreallydrink?’asksthis gentleman.”(TiAparticipant, 2023)

MSUKarereassuredthattheUKRare DiseaseFrameworkpublishedin2021 addressesthischallengedirectlyasone offourpriorityareas(14).Eachofthefour Nationshaveproducedactionplans designedtoaddresstheissue,somewith moretangibleandmeasurableactions thanothers.MSUKarepleasedtoseethe announcementofthecollaboration betweenHealthEducationEngland(HEE) andMedics4RareDiseasestocreatea rarediseaseresourcehubtofacilitate informationsharingandtraining resourcesforhealthcareprofessionals (14)

ThecurrentproblemfacedbytheIMD communityistwofold.Gainingaccessto specialistswhounderstandtheir conditionisdifficultandappearstobe duetolimitednumbersofIMDspecialists available.Thisisthenfurtherconfounded bythefactthatthosewhoprovidethe day-to-daycareforpeoplelivingwithan IMDaregeneralhealthcareproviderswith littleornoknowledgeoftheprognosis andclinicalcarerequired.

MSUKwilladdressthisbydevelopingafull understandingoftheIMDspecialist supportavailableintheUK,whilst supportingwiderinitiativesaimedat addressingtheknowledgegapsin generalmedicalcarearoundrare diseases,seekingopportunitiesto improveeducationmorespecificallyfor IMDs.

TheNHSandthededicatedhealthcare professionalswhoserveourcommunity areundoubtedlyontheirkneesafterthe impactofthepandemicandthefinancial crisisthathasfollowed,andweare sympathetictothechallengesof deliveringeducationonrarediseasesto analreadystretchedsystem.However, MSUKbelievesthatourcommunityneed changenow.Itisnotacceptableforour communitytoexperiencescrutinyand misunderstandingbasedonignorance andlackofunderstanding.

Aparamedicdisclosedtousthattheyrelyon‘Google’as theirsourceofinformationwhenattendingan emergencyinvolvingapersonlivingwithanIMD. We wouldliketoseegreaterawarenessofIMDsforall frontlinehealthcareprofessionals.Onekeyissueforthe IMDcommunityisthetimelyundertakingofan ammoniatestattimesofcrisis.Thishasbeenflagged bothinourresearchandbymembersoftheIMD communityandhealthcareprofessionalsasakey concern.

Recommendations: healthcare

Asapatientorganisationworkingwithallstakeholdersinthiscommunity,we understandthatawarenessandinformationaboutIMDssitsalongsidethe needsofmanyothercommunities.Wevalueouropenandpositiverelationships withhealthcareprofessionalsandseektocollaborativelyfindwaystoimprove healthoutcomes,particularlyaroundtimesofcrisisanddiagnosis.

MSUK WIll:

VisitIMDclinicsacrosstheUKtopromoteourpatientservicesandstrengthen relationshipswithhealthcareprofessionals

OurIMDInformationHub,providinginformationonallIMDswillcontinuetobe updatedandexpandedandpubliclyavailable CommissionanddeliverafullUKServiceReviewoftheNHSMetabolicServices in2024/5,providingacleargeographicalpictureofwhatisofferedwhere,who isinvolvedandwhatgapsthereare

DeveloparesourcefortheIMDcommunitytosharewithsocial/healthcare organisationsaboutthedailyimpactoflivingwithanIMD

MSUKwillraiseawarenessoftheRare101educationmodulewithourownIMD communityandprovidesupportmaterialstheycanusetoraiseawarenessof thiswiththehealthcarespecialistswhosupporttheircare

MSUKwillseekinformationontheplanstopromoteandevaluatethenewrare diseaseeducationhubbeingrolledoutaspartofthe2023EnglandRare DiseaseActionPlanandadvocatethatanimpactassessmentshouldbe undertakenbytheDoHSCDepartmentofHealthandSocialCaretounderstand reach

Launchan‘AmmoniaAwareness’campaignwithspecificasksaround ammoniatestingawarenessandtraining

We Would Like To See:

EducationalresourcesaimedatHCPsfundedby,orpartneringwith,anyUK publicbody,havemandatoryevaluationprocessesreportingonengagement andimpactevaluationasaconditionoffunding

TheadoptionofMartha’sRule-acampaignaskingforarulegivingpatients thepowertogetanautomaticsecondmedicalopinionabouthospitalcare AmmoniaTestingGuidelines(createdbyBritishInheritedMetabolicDisease Group)circulatedanddisplayedwithprominenceinallemergencyhealthcare settings

Guestcontribution:DrLucyMcKay,CEO andFounder,Medics4RareDiseases

Practicalrarediseasetrainingfor healthcareprofessionalsis essential

Medics4RareDiseasesisaUKcharitythatprovides andcampaignsforeducationaboutraredisease forhealthcareprofessionals.Theultimateaimisto reducethetimebetweenfirstsymptomsandreceivingafinaldiagnosisand improvethehealthcareexperienceforthoselivingwithrareandundiagnosed conditions.

Modernmedicalcurriculumsarepackedfullofinformationand,becauseofthis, thestigmatisingphrase,‘commonthingsarecommon’,issadlyuniversalrhetoric inmedicaltrainingfromtheverybeginning.

TheM4RDTeamareworkinghardtochangethismindsetandtoempowermedics withbasicrarediseasetraining,helpingthemtothinkoutsidethebox,tothink #DareToThinkRare.Itwouldbeimpossibletoredesignanyhealthcarecurriculumto includeover7,000rarediseases Instead,whatisneededisanincreasedawareness amongsthealthcareprofessionalsthatthattheyshouldexpecttocareforpatients livingwithrareconditions.Rarediseasesareindividuallyrarebutpeoplelivingwith differentrareconditionsarecommon.

WithcliniciansontheTrusteeBoard,StaffTeam,andalongsideourClinical Ambassadors,weunderstandthecrushingchallengesthatNHSstafffaceonadaily basis.M4RDisheretosupporthealthcareprofessionalsandempowerthemwith knowledgeandtoolstohelpcareforandmanagethosepatientswithunusualand puzzlingpresentations,whotakeyearstodiagnoseandareoftenlostnavigatinga confusingmedicalsystemofdifferingmedicalteams.Inessence,toensurepeople withrareconditionsarelookedafterwithclearmanagementplans,treatmentoptions, mentalhealthsupport,opportunitiesforparticipationinstudies,andthesupportof relevantpatientadvocacygroups.

M4RDhasitsownonlinetrainingplatformM4RDLearn.Itprovidesapracticaland flexibleintroductiontorarediseasesformedics,freeofcharge.Thepatientexperience isatthecoreofallofourtraining.M4RDisontheUKRareDiseasesFrameworkForum andisworkingdirectlywiththeWelshImplementationGroupandNHSEngland,aswell aswithmedicalandfoundationschool,hospitalsandprimarycare.Ineverythingwe doweuseanunbiasedapproachandfocusoncommonchallengessothatrare diseaseisconsideredasadistinctdisciplinewithitsownuniqueprofileofneeds.

ReadmoreaboutM4RDat:M4RD.org

TRANSITIONS

Participantstoldusthattheriskof ‘fallingthroughthenet’forpeopleliving withanIMDisheightenedduringtimes oftransition,whetherthatbechanges toemployment,homelife,education,or relationships.Asoneparticipant shared,“Youcan'tjustpausehavingan IMD.Andbelike,‘Oh,well,sorry.Ineed togoanddealwiththis[transition] rightnow,soIcan'thavethis.’Itjust continuedon”.

Formany,growingupandworking throughtransitionscanbringasenseof independence.However,our participantsreportedextra considerationsaroundhealthcare transitionsthatplaceadditional pressureduringexcitingeventssuchas movinghomeorattendinguniversity.

WheretheunderstandingoftheIMD decreasesortheattitudeofthose providingthesupportchanges,therisk tothepersonwithanIMDofbeing ‘dropped’increases.

Ourresearchshowedthisshiftin supportandrisktobeespecially prominentwhenpeoplelivingwithan IMDstarttoreach18yearsofageand begintheirhealthcaretransitionfrom childhoodtoadultservices.Untilthis point,youngpeoplehavebeen‘held’by theirparent(s)orcarer(s),whohave managedtheissuesarisingfromtheir IMD,creatinga‘net’tosupportthem.

Parentsoftenliaisedirectlywith professionalsanddevelopalevelof expertisetoadvocatefortheirchild.They educateservicesandsupportstaffon foodandmedicineneeds,physical indicatorsofdeteriorationinwellbeing andtherequiredactionstotake.The transitiontoself-advocacycanbea rewardingexperienceforayoungperson, butitcanalsobedauntingandrequirea levelofemotionalinvestmentatatime whensomanyotherpartsoftheir‘net‘ requirethesame.

Oneparticipantdescribedthe anxietyoftheirchild transitioningtoadultcare servicesdespitebeing“really prepared”:

“It’squiteatrauma...becauseonceyou gotoadult[services]someofthe doctorswon'tletyouin.You'vebeen doingitfor18yearsandthensuddenly, you 'renotallowedin...it’snotonlya caseofbeinginthereonyourownyou don'thavethatsametime.

Appointmentsaremuchmore condensed”

“Youcan'tjustpausehavinganIMD’’

TRANSITIONS

ArecentreportpublishedbytheNational ConfidentialEnquiryintoPatientOutcome andDeath(NCEPOD),concludedthat clearpathwaysforchildrenwithlongterm, complexhealthconditionstransitioning intoadultservicesdonotexist(40).TheUK RareDiseaseFrameworkgivesthebriefest ofnodstothechallengeofhealthcare transition,withonlytheWelshactionplan producingtangibleactionstoimprovethis anytangibleactionstoimprovethis process(41).

Childrenoftenmovefromsupportundera specialistIMDservicetomanagement withinamoregeneralistservicewithout thespecialistknowledgeand understandingoftheirIMD(11),whichcan oftenbetheresultofalackofspecialists withintheadultservice(11,42).

Atthesetimes,parentsandcarersmaybe excludedfromappointmentsorhospital wards,leavingtheyoungpersonfeeling afraidandvulnerableiftheyhavenot receivedtheappropriatehelpandsupport topreparefortheseexperiences(33).

Participantssharedexperiencesofsupport being‘lost’astheymovedintobeing classedasanadult;prescriptionsforlifelongmedicationandnecessary prescriptionfoodsarenolongerfree.

Differenttransitionswere discussedbyourparticipants: relationshipbreakdowns,new jobs,movingschools,aging,or leavinghome.Foreachtransition changestothe‘net’relateto increasedriskoffallingthrough othergaps.

“It'sonlynowI'mstartingto-kind ofnoweverythingelseisabit moresettled-gettingbackonit withmanagingthecondition.And seeingthatasimportantagain”

Oneparentsharedhowthefinancial supporttheyreceivedtobeabletotravel withtheirchildtohermedical appointmentswasrescindedoncetheir childbecame18.Thesechangesdonot reflectthelivedexperienceoftheIMD community-despitethechildreachingthe ageof18therewerenochangestotheir supportorfinancialneeds.Yettheyand theirfamilymustrespondasthoughtheir circumstanceshavealsochangedbecause theyhaveturned18.

Transitionsoccurthroughoutaperson’s interactionswiththehealthcaresystem. Adultsoftenexperienceregularchange withoneparticipantsharing,

“Everysixmonths...myconsultantsare changing,Igotatexttheotherdaysaying she'smovedtoanothercountry.Soyou're gonnahavesomeoneelse.ThisdoctorI've beenseeingforfiveyears,isgone.Anda textiswhatIget.”

Recommendations: Transitions

Itisconcerningtoseethattransitionsarenotconsideredanareaofpriorityfor policymakers,whenithasbeenidentifiedasakeytimewhenpeople,andespecially youngpeople,withanIMDcan‘fallthroughagapintheirnet’andexperience‘harm’.

ItisalsoconcerningtoMSUKthatthereappearstobeadisconnectbetweenthe deliveryofspecialistIMDservicesinchildrenandadultservices.Asanorganisation whosupportsthewholeIMDcommunity,wearecompelledtounderstandhowand whereourcommunityareengagingwithspecialistIMDservicestoensurethatwe canmoreeffectivelyadvocateforthesewheretheymaynotexist.Ourvisionfor transitionsisthattheynolongerneedspecificattention,insteadanindividual's needswouldbeapproachedholistically,withacontinuationofservicesthatarenot designatedtobefor"children"or‘adults’.

MSUK WIll:

Monitorandreportthedeliveryagainstpriority3.1,whichaddresses transitions,withintheWelshactionplanforrarediseasesanditsimpacton theIMDcommunityspecifically

EngagewithpolicymakersfromScotland,NorthernIrelandandEnglandto understandwhytransitionsarenotaprioritywithintheiractionplansand advocatethatitshouldbe

LeadanddeliveraUKIMDServiceReviewasoutlinedaspartofthe healthcaretheme;thiswillhaveaspecificfocusonunderstandingand sharingtheprocessesaroundtransitionsforUKmetabolicpatients"

Engageactivelyinguidanceandupdatesaroundtransitions

We Would Like To See:

Continuationofservicessoeachservicecurrentlyonlyavailablefor childrenhasanadultcounterpartwiththelong-termaimofcombining services

Published,tangiblemonitoringforanytransitionsguidanceoractionplans thatmeasureagainstoutcomesco-producedwithalargepatient communitypopulation

Theimplementationofthe‘Ready,Steady,Go’transitionsframeworkfor moreyoungpeoplelivingwithanIMD

Guestcontribution:NeilFletcher,RoaldDahl ClinicalNurseSpecialistforTeenagersand YoungAdults,BartsHealthNHSTrust Healthcaretransitionpathways: Whatgoodshouldlooklike

Forallchildrenwithalong-termcondition, transitiontoadultcarewillatsomepointintheir careprocessbecomerelevant.Ideally,planningfor ahealthcaretransitionpathwayisinitiatedbythe ageof13toensureasmoothtransitionoverthefollowing threetofouryears.Thetransitionshouldneverbesuddenorunexpected.Instead, itshouldbeholisticandtailoredtoayoungperson’sindividualneeds,involvingthe multi-disciplinaryteams(MDTs)involvedintheircareandaccountingfor condition-specificsupportandneeds.

Throughouttheprocessofplanningandinitiatingthehealthcaretransitionpathway, severalaspectsshouldbeaccountedfortohelpsupportasmoothtransition.Similarto thepaediatricservices,patient-centricityiskey.Thismeansthattheyoungpersonis morethantheircondition.Conversationsaroundwhatmatterstothemshouldbe encouraged,aspartofwhichemotionalandmentalhealthandwell-beingisjustas importantaphysicalhealth.Iftheyhaveahandheldorelectronichealthpassport,the MDTsinvolvedintheircareandtransitionneedtotaketimetolookatittotryandfully understandtheyoungperson.

Siloedhealthcaretransitionshouldbeavoided.Manyyoungpeoplewillhaveseveral disciplinesinvolvedintheircare,suchasprimaryandsocialcare,butalsoeducation. Insomecases,norecognisedequivalentservicemaybeavailable Close communicationandcollaborationbetweentheseteams,theyoungperson,andtheir families/carerswillleadtoanoverallbetterexperienceinthetransitionpathwayforall involvedparties.

Finally,usingaframeworktodiscussandoutlinethetransitionpathwayencourages andempowerstheyoungpersonandtheirfamilies/carers.Anexampleofsucha frameworkis“ready,steady,go”.Thisframeworkcanbeusedtopromotepositivity aroundthetransition,throughforexampletheencouragementofjointappointments betweenchildrenandadultserviceswherepossiblewhilstnotmakingitdauntingfor theyoungperson.

RoaldDahlNursesworkalongsidetheMDTtoensurethataholistic,individualised healthcaretransitionpathwayisimplementedandevaluated.

ReadmoreabouttheRoaldDahlcharityat:roalddahlcharity.org

mental health in the imd community

Alackofmentalhealthsupportwas highlightedbytheparticipantswithin ourresearchasasignificant‘gap’, impactingtheirqualityoflife. When participantsdescribedsituationsof ‘fallingthroughthegap’intheir‘net’, theyoftenprovidedstoriesabout “traumatic”diagnosticandtreatment pathwaysorongoingmentalhealth issueseithercausedorexacerbatedby livingwithanIMD.Althoughthisgapin thenetmaybeperceivedtoberelated tohealthcare,werecognisethat medical,employment,andsocial needscannotbeconsideredinsilo. Theyimpactoneanotherintrinsically.

Thenegativeimpactonmentalhealth toindividualslivingwithararedisease iswelldocumented(7,43,44).Our researchshowsthatlivingwithanIMD cancausestressandothermental healthproblemsandthatitisinthe intersectionsofaperson’s‘net’where peoplecanbecomemostsusceptible. Theyhavetoldushowthisis exacerbatedbyalackofadequate support.

Oneparticipantsharedhowgaps acrosstheirnetultimatelyledtothe “lowest[they’ve]everbeen”asthey begancreatingaplantotaketheirown life:

“...mylifebecamework,pain,fatigue, youknow,tryingtodosomelifestuff, like,takeyourlaundry,ordobankstuff orsomething.Butitjust,itwasreally bad.Anditimpactedmymentalhealth Andwhenitgotreallybad,Iwasatthe pointwhereIwasplanningmysuicide becauseIwaslike,Ijustcan'tdoit anymore.AndIcouldn'tseeawayout.” (TiAparticipant,2023)

Ourresearchhashighlightedmany situationswhereparticipantsare psychologicallyvulnerable,particularly withincontextsofscepticismor disbeliefabouttheirIMDanditsimpact ontheirdailylives

Oneparticipantdescribedhowhefeltif hehadbeenlivingwithcancer,he wouldhavebeentreatedvery differently:

“I'm34yearsold,andI'veonlybeen offeredanykindofcounsellingnow. AndIbeggedforit.Cancerpatientsget counsellingstraightaway,it'spartof theirtreatment,essentially.”

(TiAParticipant,2023)

mental health in the imd community

Ourresearchsuggeststhathowpeople restructuretheir‘net’toavoidfurther gapscreatedbypoormentalhealth, appearstobedependentonthe services,orlackthereof,intheirarea.Itis alsodependentontheirfinancial abilitiestoaccesssupportprivately, whennoaccessisprovidedontheNHS, orwaitinglistsarelong.

Whenaccessingmentalhealthsupport, participantssharedissuesand frustrationsaroundbeingunderstoodby HCPs.Theyindicatedthattheyfeltthe peoplewhoweresupposedtogivethem supportdidnothaveadequate knowledgeofIMDsortheimpactof livingwithararedisease

Oneparticipantsharedtheirone interactionwithmentalhealthsupport:

“Theysentonceamentalhealth specialisttomybed.Andtheyjust talkedaboutmychildhood.AndIsaid, it'sgotnothingtodowithmy childhood,forGod'ssake.Andthen theyleft.…mychild[hood]hasgot nothingtodowithmymedical problem.Yeah,nohelp.WhenIwas literallyhavingabreakdownin hospital,crying,” (TiAParticipant,2023)

IncontrasttointeractionswithHCPs,some participantstalkedaboutthepositive impactofsocialisingwithotherswhohave anIMDorasimilarlivedexperience, therebyunderstandingthemmoredeeply. Manyspokeaboutthepowerofonline communities,sharingknowledge, understanding,andalivedexperience: “Itcanbeaverylonely,stressfultime.So the[onlinecommunity]sometimesis justtheonlyplacewhereyoucanfeel andjustsitthereandhavearant.”

Nonetheless,otherparticipantswhohad thesamecondition,haddifferent experiencesofmentalhealthandeven everydayqualityoflifeoutsideofthat. Thisissimilartothefindingsreportedina recentreportbyNationalVoices,aleading coalitionofhealthandsocialcare charities.Ithighlightedthatpeoplewith thesamelong-termconditionsmayhave differentmentalhealthexperiences.Thisis duetoanumberoffactors,includingthe financialstructuresoftheir‘net’(45).Thisis averyworryingthemetoemergefromour research,especiallyinthebackdropof datasuggestingahigherrateof depressionwithincommunitiesmost impactedbythecost-of-livingcrisis.

Asasupportorganisation,MSUKreceive anaverageof23mentalhealth-related queriespermonth.Thisisunsurprising, consideringa2019reviewofmentalhealth servicesforpeoplelivingwithIMDsacross EnglandandWales(49),foundthat currentserviceprovisionswerefailingto meetinternationalguidelines,with inequalityacrossthoseservicesthatdo exist.

Recommendations: MEntal Health

GiventhesignificantchallengeofimprovingmentalhealthwithintheUK,itis unsurprisingtofindthatspecificpolicydoesexiststhatwillattempttoaddressthe challengesourcommunityfacedirectly TheNHSLongTermPlaninEnglandhas committedanadditional£2.3billionperyeartoimprovementalhealthservicesin Englandby2024(50).Thereisalsoafocuswithintheactionplansofeachofthefour nationsonimprovingmentalhealthforpeoplelivingwithrarediseasesaspartof theirdeliveryagainsttheUKRareDiseaseFramework(41,48,49,50).

Eachoftheactionplansrecognisestheinterdependenceofmentalhealthandall aspectsofanindividual'slifeandsuggeststheneedforwiderpolicyalignmentin achievingimprovements However,arecentreportsuggeststhatwehavealong waytogoinensuringmentalhealthisgiventhesamepriorityasphysicalhealthby healthcareprofessionalsmanagingtheircare(42).

MSUK WIll:

MonitorthedirectimpactoftheUKRareDiseaseFrameworkactionplansonour IMDcommunitythroughanannualevaluationsurvey

Provideourteamwithongoingprofessionaldevelopmenttrainingonmental healthandrarediseases

Offermentalhealthtrainingtoallourcommunityadvocatesandthroughour peersupportscheme-MetabolicConnect

Continuetodevelopourcommunity-basedprovisions,bothonlineandoffline,to createaccessibleandsupportivespaces

WorkalongsideourMetabolicAdvisoryCouncil(MAC)tocoproducecontenton lesserspokenaboutaspectsoflivingwithanIMD

EngagewithNationalVoicesandwidermentalhealthcharitiestomonitorthe deliveryofnewmentalhealthservicespromisedwithintheNHSLongTermPlanin England.

We Would Like To See:

Anonlinecentralisedmentalhealthreferralandsupportservicespecifictothe IMDcommunity

Alistofavailableprivatementalhealthcarespecialistswithexperienceinrare diseasethatprovidesvariedgeographical,topicalandeconomicoptions

EmotionalSupportpathwaysincludedasstandardarmofpatientpathways

TrainingdeliveredinRareDIseaseforallNHSmentalhealthsupportworkers

access to treatments and clinical trials

Althoughnotidentifiedinourresearchasoneofthekey‘gaps‘inthe‘net’,access toandknowledgeabouttreatmentsandclinicaltrialswassomethingparticipants mentionedinconnectiontoqualityoflife. Theyexpressedadesiretobeinformed abouttreatmentsandtrials,butfound informationwasdifficulttoaccessandor understand.

Thiscanbetrueevenwhenthe personlivingwithanIMD,ortheir parent/carer,haveahighlevelof understanding:

‘I’mascientistandIlovetoknow theresearchbutit'ssohardto findoutwhathasbeendone. Sometimesthingscomeupand youthinkok,they'vedonethisin thiscountry.I'msureother parentswouldwanttoknowwhat otherwhatresearchersaredoing. It'dbereallynicetohavea collectiveplacetohave (information).It'smaybevery, verylittle,butthereisstuffgoing on.Sometimesitisn't.I'vehad informationindifferent languages,andI'vejustGoogle translated!’’(TiAParticipant, 2023)

Betterinformationaboutwhat ishappeningacrosstheworld intreatmentdevelopment andclinicaltrialswasakey issueinimprovingqualityof lifeforourcommunity:

'’Mysonhasabsolutelynofaith inthehealthsystem.He toleratestheappointmentsto basicallyappeaseme.Hejust doesn'tbelieveanyone'sgoing tobeabletohelphim.Ithinkit reallywouldbehelpful(to know)wherearetheplaces aroundtheworldthatpeople aredoingthings?Andarethere opportunitiestobepartof trials?’’ (TiAParticipant,2023)

access to treatments and clinical trials

Itwasimportanttoourparticipantstohighlighttheirsometimescomplexjourney evenwhenthereisanapprovedtreatmentfortheirconditionsorsymptoms.This canimpactqualityoflifeanditisimportantthattheir‘net’offerscontinuoussupport throughoutthisjourney.Participantsreportedontreatmentsnothavingthe expectedimpactandwhathappensthen.

Oneparticipantshowstheimportanceofbeingpreparedfor negativeoutcomessharedabouttheirchild:

‘

’Unfortunately,shewasn'tresponsive(tomedication).Ifshehad respondedshewouldn'tneedhersubstitutesordiet.Butthere's onlyabout30%ofpeoplewhorespondtoit,unfortunately.Itis whatitis.ButI'dalreadydonesomeresearchon(adifferentIMD) asbeingtheclosestconditiontoit.Andthere'smuchmore availablethere’’(TiAParticipant,2023)

Whilstaccesstotreatmentswasnotidentifiedasakey‘gap’inour research,knowledgeandfeelinginformedaboutdevelopmentswas importanttothem.Ourresearchhighlightsthehugeopportunityfor organisationslikeMSUKtodomoretogetinformationabouttreatments andtrialstoIMDcommunitiesmorequickly,andpresentthisina centralisedlocation.Withthecontinuedworkindrugrepurposinghaving potentialimpactacrossdiseases,knowingmoreabou happeningoutsidespecificconditionscanpotentially informationforalloftheIMDcommunity.

WewouldliketosupportourIMDcommunity tobe‘ResearchReady’andtodevelopan interestincontributingtoresearchatall stagesofdevelopmentforindividualand forwidercommunitybenefit.

Recommendations: access to treatmen clinical trials

InaworldwhereveryfewpeoplelivingwithIMDshaveaccesstoeffective treatmentsitisvitalthatwecampaignandadvocateforgreaterinvestment, researchandtreatmentapproval.However,thisneedstobebalancedwiththeneed tosupportqualityoflifeneedsasidentifiedinthisresearchandensurewearedoing enoughtohelpourcommunitylivewellrightnow.MSUKiscommittedto proportionallybalancingbothitsservicesandfundingmodeltobetterreflectthese needs.Therecanbeclustersofinterestinparticulardiseaseareas-particularlywith theriseofAdvancedTherapyMedicinalProductssuchasgenetherapyand,whilst wemustanddosupporttheseadvances,weintendtoalsokeepenergyandfocus inotherareassuchasdrugrepurposing.

MSUK WIll:

Launcha‘ClinicalTrialHub’anonlinehubprovidingacentralplacefor independentinformationonwhatishappening,where,andforwhom,for everyonelivingwithanIMD

Developanddeliverour‘ResearchReady’programmewhichwillinformand educateourIMDcommunityonallaspectsofclinicaltrialsandtreatment access

CommissionandundertakeresearchintounmetneedsinunderservedIMD diseases

We Would Like To See:

Mandatoryinclusionofpatientadvocatesand/orpatientorganisationsinthe developmentofclinicaltrials

QualityofLifemeasuresthatreflecttheneedsoftheIMDcommunitymore specifically

Newguidance,co-producedwithpatientgroupsonfundingfromindustryand declarationsofinterest

DrugRepurposing:Aneffectiverout treatmentinrarediseases

Drugrepurposing,takingadrugthathasbeen approvedforuseinonediseaseandusingitin anentirelynewcondition,isincreasinglygainingmomentumandinterestfromrare diseaseresearchersandpatientgroups. Whilegenetherapiesofferhopeofcurative treatmentinthelong-term;drugrepurposingoffersaquicker,cheaper,andmore accessibleroutetotreatmentsthatslowdiseaseprogressionorimprovesymptoms.

Repurposingadrugenablesstepsinthedrugdevelopmentpathwaytobeshortened orremoved.Researchersalreadyknowthedrug’starget,mechanismofactionand it’soff-targeteffectsandsideeffects.Thismeansrepurposeddrugscanmove quicklyintophaseII/IIIclinicaltrialswhich,ifsuccessful,canseeafasterrouteto regulatoryapprovalandclinicaluse.Newtherapytrialshaverigorouseligibility criteria,meaningmanysubsetsofpatientscannotparticipate.Pre-existingdata relatingtorepurposeddrugsmeansthateligibilitycriteriacanbemoreflexible, loweringbarrierstoparticipationandcreatingmoreinclusivetrials.

Drugrepurposingoftenfocusesonslowingdiseaseprogressionorimproving symptoms.Severalsuccessfulrepurposingprojectshavebeenledbycliniciansor researchersincollaborationwithpatientgroups.Thiscollaborationensuresthedrug targetssymptom(s)thataremostmeaningfultopatientsandfamilies.Successhas beenseeninEMAapprovalforuseofnitisinoneinalkaptonuria(AKU),arepurposed drugthatslowsthedisease’sprogression.Theprojectwasdrivenbypatientgroup, TheAKUSociety,incollaborationwithanenthusiasticandcommittedgroupof researchers.

Usinggenericdrugsforrepurposing,thosecurrentlynotunderpatentandcanbe manufacturedandmarketedbymultiplecompanies,meanstheyarecheaperto source.Thiscreatesamoreattractivereimbursementmodelforhealthcaresystems thanothertreatments,particularlyhigh-costcell-basedtherapies.Despitethis, gettingrepurposeddrugstomarketinthiscontextcanbechallengingthroughlackof interestfrompharmaceuticalcompaniesduetoaseeminglyweakbusinessmodel withpoorfinancialreturn.ProjectslikeREMEDi4ALLbringtogetherexpertstoaddress theseissuesandencouragecollaborativediscussionsacrossstakeholdersonwhy repurposingisaviableoptionforthem

Whileuseofpre-existingdrugs,thatperhapscanevenbepurchasedfromyourlocal supermarket,maynotseeminnovative,thedrugrepurposingjourneyseesthedrug developmentpathwayalteredtobringmoretreatmentstopatientsfaster;surely doingsomethingdifferentlytoimproveoutcomesistheverydefinitionofinnovation?

final thoughts

TheThoughtsintoActionprojectwascreatedwithonekeyquestioninmind;What isqualityoflifeasdefinedbythecommunityofpeoplelivingwithanInherited MetabolicDisorder?Thelivedexperiencesharedinthisresearchcreatedthe theory;“Takingdirectedactiontoliveindifferentcontextsofbelief”.Simplyput,our communityneedtofeelunderstood,believedandhaveaccesstoservicesand supportthatwillimprovetheireverydaylivedexperience.

Theyareacommunitywho,whennotsupported,canfeelemotionallyand physicallyexhaustedfromtheeffortofcreatingandmaintainingasafety‘net’,built fromthesocial,financialandhealthcarestructuresrequiredtostaysafe.Theyhave identifiedsystemsandsocialstructuresthatareinaccessibletotheirneeds, dependentontheviewsofthepeoplethatholdpowerinthosespaces.And importantly,that‘livingwellwithanIMD’isdependentonacombinationofpositive experiencesacrosstheirlives-notsimplyfromthemanagementoftheircondition orthehopeofaneffectivetreatment.

Inthecurrentlandscape,whereonly5%ofrarediseaseshaveadisease-modifying treatmentandveryfewhavea‘cure’,agreatdealofworkremainstochangethe narrativefromdespairandconcerntohowpeoplecanlivewellwithanIMDwhen theyhavetherightsupport.Ourresearchtellsusthatweneedtorebalancethe focusonlivingwithanIMDas‘life-limiting’and‘life-threatening’withno‘cure’and movetowardsafocusonlivingwellwithaccesstosupportthatimprovesthe everydaylivedexperience.

ForMSUKthismeansafrankappraisalofourcurrentworkstreamsandaplanto balanceandevaluatetheareasinwhichweplaceourbestefforts-bothwithand onbehalfofthecommunity.Therealityforpatientorganisationsisthatour opportunitiesforfundingcanimpactourwork.Securingfundingtosupport meaningfulpatientadvocacyisnoteasy;inacontextwherewemustrightly remainindependentofalloutsideinfluencestobeconsideredcredible stakeholders,theopportunitiesforfinancialsupportarefew.Thisisaconversation thatneedstobehadopenlyandrepeatedlysothateveryoneworkinginrare diseasecancontributetothesolutions.

Aswefocusonsupportingourcommunityto‘livewellwithanIMD’,MSUKintendsto strengthenourunderstandingofthecommonalitiesbetweentheover500IMDsto increaseourabilitytoprovidea‘wholeofgovernment’approachtoincreasing qualityoflife.

Acknowledgements

Firstandforemost,wewouldliketothankthe57individualswhoparticipatedinour researchconversations.Theyspokeopenly,candidlyandpassionately.Thoughtsinto Actioncouldnothavebeenrealisedwithoutthemandwewillbeforevergratefulfor thetimetheytooktosharetheirfeelingsandexperienceswithus

ThoughtsintoActionwassupportedbyaSteeringCommittee,consistingof healthcareprofessionals,peopleliving,oradvocatingforthose,withanIMDandother stakeholdersacrossthehealthcareindustry.Theyprovidedinvaluableinputand guidancethroughouttheprojectandgavethoughtfulfeedbacktothedraftThoughts intoActionreport.

ThanksalsotoourpartnersintheIMDandrarediseasecommunityforofferingtheir platformstohelpusrecruitparticipantsanddisseminate(early)results.Aswellas thosefromthesecommunitieswhoagreedtowriteaguestcontributionandare featuredwithinthisreport.

WewouldalsoliketothankHelenScottfromGroundedTheoryOnline,forheranalysis oftheresearchconversations;andMichelleConway,afreelanceconsultantwho managedtheprojectandsupportedinthedevelopmentandwritingofthefinal report.

Thespeciallycommissionedillustrationsthroughoutthisreportwerecreatedby @ElizabethchlwhowasapproachedthroughtheFiverrplatform.

Finally,wewouldliketothankeachofourMetabolicSupportUKteammembers,as wellasourboard,fortheirworkinconceptualisingThoughtsintoAction,conducting researchconversations,writingthisreportandorganisingdisseminationroutes. SpecificthankstoToniMees,whoconductedthevastmajorityoftheresearch conversations,ensuringourparticipantsfeltcomfortableandheard.

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