metabolic Mat
Whatdoe meantol wellwith raredisea
Learnmoreabout ourLivingWell movement! Getinvolved Explore opportunitiesto getinvolvedwith MSUK’swork!
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a word from our ceo the living well symposium our annual community conference
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Whatayearit’sshapinguptobe.Fromeventstoconferencesto conversationswithourcommunity,there’sbeennoshortageofmovement, andallofitgroundedinwhatmattersmost:connection.
We’vebeenoutandabout,meetingmanyofyou,listeningtowhat’sneeded andsharingspacethat’sfullofenergy,honestyandwarmth.Ihopeyou’re beginningtofeelmoreconnectedtousasateam,andtoeachother.There reallyisnothingbetterthanalaughaboutsomethingyouwereonce worriedabout,orareassuringsqueezeontheshoulderfromastrangerwho justgetsit
Thisissuecapturessomeofthatspirit.You’llfindreflectionsfromourLiving WellSymposium,detailsaboutour2025CommunityConference,practical waystogetinvolved,travelstories,andalookatwhat’scomingnext.
Thankyouforbeingwithus.Here'stoanexcitingyearaheadaswetake stepstowardsarealityinwhichpeoplelivingwithrarediseasescanlive well!
kirsty hoyle, ceo metabolic support uk
the living well symposium
TakeasneakpeakintotheLivingWell Symposiumonthe7thofMarch2025
Wewelcomedover120peoplelivingwith andaffectedbyraredisorders,advocates, patientorganisations,policymakers, healthcareprofessionals,serviceproviders, andpharmaceuticalrepresentativestoour LivingWellSymposiuminStoke-on-Trent
ThiseventwaspartoftheLivingWell Movementwhichcallsonallraredisease stakeholderstoprovidethesupport neededforourcommunitytolivewell everyday.Our2023researchproject, ThoughtsintoActiontolduswhatmatters mosttoyoutohaveagoodqualityoflife andwhatbarriersyouface.Sothisisyour movement,andwewanttoworktogether tohelpyoulivewell.
Theatmosphereonthedaywaselectric, wefeltthepassionintheairandfrom everyoneintheroom,andweren'talone;
"Suchagreatpositiveatmosphere,s manygreattalks,arealsenseof momentumandaction!"
Peoplelivingwithrareconditionssat attheheartoftheday.Ourcommuni postershighlightingwhattheyneedt wellcoveredthewalls,creatingthepe backdropfortheday
Childrenasyoungaseighttalkedabout theireverydaychallengesand successes,alongsideadultswho exploredtheirexperiencesoffinancial support,barrierstoemployment,the impactofclinicaltrialsandhope, throughtohospicecareandtheconcept ofdyingwell.
“Therewasn'tafeartotackle"difficult" issuesheadon.”
Eachsessionwasuniqueandpersonal, andyeteachshowedthesamething:life witharareconditiondoesnothappenin isolation.Weneedtoaddressthe systems,services,andpoliciesthat shapeoursocietytoensuretherare communityisunderstood,considered, andsupported.
“[TheSymposium]hasconfirmedmy understandingthatpeoplelivingwith MetabolicDisordershavetofightfor thingsthatotherstakeforgranted.”
tedmillerwholiveswith xerodermapigmentosum(xp) speakingatoursymposium.
the living well symposium
life’s like a box of chocolates: glenn stafford who lives with X-Linked
Adrenoleukodystrophy (ALD)
Glenn’sstorybeganatagefivewhenhe andhisbrotherwerediagnosedwith Adrenoleukodystrophy(ALD),arare conditionaffectingthenervoussystem andadrenalglands.Thefamilytravelledto Americaseekinganswers,whereGlenn wasofficiallydiagnosed.“Wedidn'trealise howitwouldshapeourlives,”Glenn reflected.Despitehisdiagnosis,Glenn showednophysicalsignsofALD,requiring onlystrictdietarymanagement,whilehis brotherwas“severelydisabled.”This contrastledGlenntofeellikehewas “masqueradingasanormalperson,” especiallyduringsocialeventswherehis foodwasalwaysseparate.
Thefamilywasselectedforahigh-profile clinicaltrialfor‘Lorenzo’sOil,’bringing hopetoALDcommunities.“Wewerethe trialfamily,”Glennstated,reflectingonthe mediaattention.Hepainfullyremembered singingWhitneyHouston’s“IWillAlways LoveYou”tohisbrotherforthenews.“I couldn’tunderstandwhyIhadtoprove howmuchIlovedhim.”
Glennlongedforthemediatounderstand therealpain:“Thislittleboyhastowatch hisbrotherdeteriorateanddie,knowing hehasthesameillness.”
WhenGlenn’sbrotherpassedaway,the trialendedquietly,andthecameras disappeared Feelingforgotten,Glenn stoppedtakinghismedicationsevenyears later,drivenbysilenceandgrief. Symptomsfinallyemergedat35, shatteringtheillusionofnormality.“Ilook likea95-year-oldgoingdownthestairs,” hereflected.Counsellingeventuallyhelped himprocessyearsofsilenceandunspoken pain,revealingtheweightofsuppressed trauma.
Living well movement learnmoreabouttheliving wellmovementbyclicking thebutton,below:
HeldfortnightlyonWednesdaysfrom3–4pm,thisinformalmeet-upisforpeople livingwithIMDsandtheirfamiliestochat,shareexperiences,andconnect.There’sno agenda,justarelaxedhourtotalkaboutanythingfrombloodtestsandeatingoutto daysout,LEGO,androllercoasters!
Toregister,emailhelen@metabolicsupportukorg
OpentoindividualsandfamiliesaffectedbyIMDs.
metabolic connect
MetabolicConnectisourpeersupport programmethatbringstogetheracommunityof peoplewithlivedexperienceofIMDs.Thisincludes individualslivingwithanIMD,aswellasparents, carersandfamilymembers.
MetabolicConnectoffersonetoonesupportbylinking peoplewithotherswhounderstandthechallengesof livingwithorcaringforsomeonewithasimilarIMD.It’s aspacetoshareexperiences,exploreoptionsor simplyconnectwithsomeonewhogetsit.
Tofindoutmore,email helen@metabolicsupportuk.org
Abigthankyoutoallourfundraisers,supportersandcommunity Yoursupportmeans theworldandhelpsusraiseawarenessforIMDs.Gettinginvolvedisn’tjustabout fundraising,it’salsoaboutsharingyourtime,experiencesandvoice.Together,wecan helpmorepeopleandfamilieslivewelltoday.
multi-dale challenge
TheRivettfamilyandfriendslaceduptheirbootsonce againforthe16thbiennialMulti-DaleChallenge,thistime trekkingthroughthebeautifulDerbyshiredalesinmemory oftheirdaughterClaire.
Thankstotheireffortsthisyear,theteammanagedto raisenearly£1500forMetabolicSupportUK!
Readmoreabouttheirchallengethisyearonourwebsite.
true faces of rare
Youtoldusthatauthenticimagesofrealpeople livingwithIMDsmattertoyou,inpostsand informationaboutyourcondition.Canyouhelpus growourcollectionoflovelycommunitypicturesso wecanmakesuretheimagesweusereflectand representourcommunity?
Getintouchtofindoutmore.
easy-fundraising
Didyouknowyoucanraisefreedonationsforusjustbyshopping online?Over8,000retailerswilldonatewhenyoushopvia EasyFundraising,whetherit’sholidays,groceriesorbargains.It’s freeforyouandmakesarealdifferencetothoselivingwith IMDs.
fancy fundraising?
There’ssomanywaystofundraiseforus!
Getintouchwithustochataboutitvia soushian@metabolicsupportuk.org
sun, sea and imds
What'sthat,coulditbesomesunshine?Unheardof!
Withthewarmermonthshere,manymaybethinkingofholidays.Whetheryou're contemplatingastay-cationorventuringabroad,therecanbelotsofextrathingsto considerwhenyou'relivingwithanIMD.Butthatdoesn'tmeantravelisn'tforyou,as provenmanytimesoverbyourcommunity!
considering Cruising?
Fromplanningandcoststowhatcruisingcan offerforthosewithanIMD,Nickisharesinsights fromyearsofexperiencewithhersonBrandon. AfterhisdiagnosisofArgininosuccinicAciduria (ASA),traveloncefeltoutofreach
ButadvicefromGreatOrmondStreetHospitalstuckwithher:“Tryandliveyour lifeasbestyoucan,likeyouwouldhaveanyway.“
Readytoexplore?DiveonintoNicki’sresourceallaboutcruising.
Mind my Medications!
Travellingwithmedicationcantakesomeextra planningandconsideration.Butitisdoable.
Ourcommunityhavesharedtheirexperiencesof travellingsafelywithIMDsandmedicationinour traveladvicehub
support us by travelling
Grab£125offwithyourmyTUIaccountonholidaysnextMay* Plus,raiseuptoa25% donationforMetabolicSupportUKwitheasyfundraising.Booknow
meet our new team member meet our new team member
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out and about out and about
out and about
FromtheRareDisease2025attheEuropeanParliamentinBrusselsandtheRare DiseaseResearchEventinManchester,totheWorldEPACongress2025inAmsterdam, theFestivalofGenomics&BiodatainLondon,andevenasunnydayatTwycrosszooin collaborationwithTango2UK,we’vebeenatawholerangeofeventsalreadythisyear, advocatingforandwithyou.
OurCEO,Kirsty,gracedtheradiowaveswithBBCRadioStoketalkingallthingslivingwell, andourCampaignsLead,Jonathan,joinedawebinarinGreecetoshareourimpactful ThinkAmmonia!campaign.
Rare Disease Day 2025, European Parliament
BySoushianSamadi
IhadtheprivilegeofattendingtheRare DiseaseDay2025eventattheEuropean Parliament,hostedbyMEPsStineBosse andAdamJarubas Titled"ImpactofRare Diseases:Morethanyoucanimagine,"it gatheredpolicymakers,researchers, patientadvocates,andindustryleaders todiscussstandardisedpolicies, accessibility,andawarenessacrossthe EU.
Panellistshighlightedtheeconomiccost ofrarediseases,theimportanceof newbornSMEscreening,andtheneedfor holisticcarethatincludessocialand psychologicalsupport Hearingpersonal storiesunderscoredtheurgencyfor action,makingtheeventbothinspiring andacallformeaningfulpolicychange.
Twycross Zoo with Tango2UK
ThedayafterourLivingWell Symposium,wewereatsunnyTwycross ZooforaTango2Communityday alongsidethenewUK-basedcharity, Tango2UK.
Wearereallypleasedtobeworking alongsideTango2UK,likesomanyother disorder-specificorganisations Togetherwecanmakesureallinherited metabolicdisordercommunitieshave thesupporttheyneedtolivewell.
ThiseventwasthefirsttimetheTango2 communityhadbeenabletocome together,anditwon’tbethelast.
FindoutmoreaboutTango2and Tango2UK
YouarealwayswelcometoreachouttotheteamatMetabolicSupportUK,inawaythat
www.metabolicsupportuk.org
