Metabolic Matters (Issue 17)

metabolic Mat

Whatdoe meantol wellwith raredisea

Learnmoreabout ourLivingWell movement! Getinvolved Explore opportunitiesto getinvolvedwith MSUK’swork!

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page 1: page 1: pages 2-3: pages 2-3: page 4: page 4: get involved sun, sea and Imds meet our new team member out and about get in touch

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