CEO Foreword
Reading through this edition I was reminded of the sheerbreadthofyourexperiences;ourThinkAmmonia! Campaignreflectsboththegriefandthehopethatwe canallfeelaspartofthiscommunity.Thesweat,tears, and love that go into your lives and our work are blended through our fantastic fundraisers out making change for their (and other) families, our events and research opportunities that bring people together to sharestories,laughsandfears.
WewanttoremindyouallthatMSUKisyourMSUKand it’s vital that you feel part of it, in whatever way works bestforyou. Joining Our Metabolic Advisory council is a great way to help co-produce our services, fundraising to help your and other families, sharing yourstoryorattendingourevents.
Weareinagreatplaceasacharity,wehaveastrong and stable team, a refreshed board, and our recent national lottery funding success But without our communitythis
Think Ammonia! Campaign:Hyperammonaemia
Findoutmoreaboutourrecentlypublished ThinkAmmonia!Campaignandhowtogetinvolved.
Onthe11thofMarch2024,weofficially launchedour“ThinkAmmonia!” campaignwhichisdesignedtoimprove outcomesforpeopleexperiencinghigh ammonia.
Thiscomesafterwehavereceived reportsovertheyearsofpeopleinour communityexperiencingsevere negativeconsequencesincluding disabilityanddeathduetothiscondition notbeingdiagnosedandtreatedquickly enough.
Thiswasonceagainreiteratedthrough thehigh-profilecaseofRohanGodhania, whosadlydiedaged16inAugust2020 andwasposthumouslydiagnosedwith Ornithinetranscarbamylase(OTC) deficiencywhentherecipientofhis donatedliverbecameseriouslyill.
CampaignAims
Thiscampaignhasbeeninformed throughengagingwithourincredible communitieswhohaveprovidedunique insightintothelivedexperienceofhigh ammonia,throughour hyperammonaemiasurvey,our roundtableheldatourannual communityconference,andthe interviewsbetweenourPolicyandPublic AffairsOfficer,JonathanGibson,and membersofthecommunity.
Collaborationiskeytothesuccessof thiscampaignandinthisspirit,we’ve alsobroughttogetheraworkinggroup ofexpertsconsistingofconsultants specialisingininheritedmetabolic disorders(IMDs),seniorlabstaffandan advancednursespecialist.Itisthrough theseuniquecollaborationsthatwe havecreatedthefollowingaims.
Toachieveanincreaseinammoniatestingforunwellneon andpeopleexperiencingunexplainedcomaorencephalop Toachieveadecreaseinammoniatestsamplerejectionfro laboratories.
Toraiseawarenesswithhealthcareprofessionalssothatth recognisethesymptomsandtestearlier. Toincreaseawarenessaroundthesymptomsofhighamm ensurepeoplecanrecognisethesigns. Todevelopresourcesforhighammonia. Toensureclearerlabellingisinplacearoundthepotentialr associatedwithhigh-proteinproductsandconditionscaus highammonia.
Nowthisisnosmalltask,butweareworking hardtoensuretheseaimsareachieved!
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Attheheartofourcampaignarethe numerous,andemotionalstoriesfromour community.Thankyoutoeveryonesharing theirvoicestohighlighttheimportance andneedforhyperammonaemia awareness.
Here,wehighlightLucas’sstory,astory whichsharesmanysimilaritieswiththose sharedbyothers.InheritedMetabolic Disordersmayberare,butstorieslikethis aresadlyalltoocommon
Lucas’sStory
Lucaswasbornfull-termfollowinga healthypregnancy,butafterbirthhe startedtoexperienceissuesthat progressivelyworsened,leadingtoalifeor-deathsituation.
MumCharlotteinitiallybecameworried whenLucaswasstrugglingtofeed, vomitingclearfluid,andbecomingmore andmoresleepy.
“Theyweresayinghewasn’tsleepy;he wassettled,hewascontent.”
Stillworryingabouthispresentation Charlotteraisedconcernsagainand LucaswastransferredtotheNeonatal IntensiveCareUnit(NICU)wherehis healthcontinuedtodeclineandhestarted toexperienceseizures.
“Nooneknewwhatwasgoingon.Noone knewanything”
Charlottetalksaboutthefirstmentionof Ammonia;
“Thedoctorthatspoketoussaidthey’d runanammoniatestandthathis ammoniawashigh.Ihadnoideawhathis ammoniawas.Ididn’tknowanything aboutitatthispointandneitherdidthe doctorthatwastalkingwithmereally.
Shekindofsaid,Idon’treallyknowwhat thismeans.Itmeansthatheprobablyhas somesortofmetabolicconditionbutI don’tknowwhatone,Idon’tknow anythingaboutitreally.
Shetoldusthatsomechildrenwith metabolicconditionsdie,somechildren withmetabolicconditionssurvive,and somechildrenwithmetabolicconditions areseverelydisabled.Thatwastheextent ofwhatshetoldus.”
LucashasCitrullinemia,aUreaCycle Disorderthatcausesthebuildupof ammoniaandothertoxicsubstancesin theblood.
Today,Lucasisalmost6yearsold.Heis non-verbal,partiallytubefed,andcan walkindependently,thoughhe experiencessomephysicaldelays.
WatchthefullvideoofLucas’s storytoldbyhismumCharlotte.
Campaign:Hyperammonaemia Page4
Campaign:Hyperammonaemia
Howareweachievingouraims?
We'reworkingtoeducatehealthcareprofessionalsbypresentingatevents,writing forpublications,influencingguidelines,andincreasingawarenessonhowto diagnose,test,andtreathyperammonaemia.We'realsoincreasingvisibility amongstthepublic,producingresourcesforpeoplewithaconfirmeddiagnosis, developingane-moduleandengagingwithMPstoensureoutcomesareimproved forhyperammonaemia.
Takealookatsomeofthematerialswe’veputtogethertohelpachievethesegoals
PosterforHealthcare Professionals
Weareworkingcloselywith healthcareprofessionals andsettingsincluding hospitalsandGPs, displayingposterstohelp thetimelydiagnosis,testing andtreatmentofhigh ammonia.
Wanttogetinvovled?
Posterforthepublic
Highammoniaisarare conditionandbecauseof this,thereisalackof awarenessmeaningthis conditioncanbemissedor misdiagnosed.Withthisin mind,wecreatedaposter forthepublictoensure peoplecanspotthesigns, empoweringpeoplewith knowledgesotheycan advocateforammonia testinguponpresentingto healthcaresettings.
SocialMedia
Whilstsocialmediaisnot themainfocusofthis campaign,wewillbe sharingpostsaboutthe campaignacrossour channelstobothraise awarenessbutalsoto documentwhatwe’redoing aspartofthecampaign.By doingso,wehopeto galvaniseourcommunities, thepublicandotherpeople tosupportthecampaign.
Thiscampaigniseverevolving,andwewantcollaborationtobeattheheartofthis. Ifyou'dliketosupport,thenpleasecontactJonathanatjonathan@metabolicsupportuk.org
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Interestedinlearningmore?Visitourwebsite
Page6 SAVE THE DATE MSUK’s2024Annual CommunityConference Friday8th-Saturday9th November,London Moreinformationand registrationcomingsoon
Meet Team MSUK
Meettheteamrunningthe2024London Marathon,supportingMSUK
TheLondonMarathonisjustaroundthecornernowforourmighty
TenrunnersaredonningtheirMetabolicSupportUKrunningvests totakeontheLondonMarathonintheculmination,andcelebratio
Eachrunnerhasbeentraininghardandraisingvitalfundsforus,e motivation.Canyousparesometimeandsomepenniestosuppo
Chris
Crichton
Danny
VisitChris’pagetooffery
LearnaboutCrichton’sreason
SupportDanny’s4in4wee g
Helen CheerHelenonassherunsforherlittleboywithMCADD
Kieron
Lara
Paul
Robert
Shaun
Tasleem
VisitKieron’spagetoshowyoursupport
HelpLarachaseanewPB
Meetournewco-chairPaul
ShowyoursupportforRobert
CanyoubeShaun’sfirstdonation?
Tasleemhasbigfundraisinggoals,visitherpagetohelp
CommunitySpotlight Page7
Findoutmoreaboutjustahandfulofthewonderfulteam!
Danny
Dannydecidedonemarathonwasn’tenoughforhim.He’s takingpartinhisownchallengeof4marathonsin4months! What’smotivatingDannythroughallthisrunning?
“Iamraisingmoneyforacausethat'sverypersonaltomyself andmyfamily-MetabolicSupportUK.Thecharityhave supportedmyfiancé,Sally,withalifelongrarediseaseandI’d liketodowhatIcantosupportandhelpcontinuetheirwork foryearstocome.”
Helen’ssonOscarwasdiagnosedwithMCADDwhenhewas just7daysold.Whiletryingtolearneverythingtheycould aboutthisnewworldandwhatitmeantitmeantfortheir family,theyfoundusatMetabolicSupportUK.
“ThisisahugechallengeIwishtotakeontoraiseasmuch moneyaspossibleforsuchanincrediblecause,anysupport bigorsmallwouldbehugelyappreciated!”
Paul
Helen
Ourveryownco-chairPaulistickingofftheirbucketlistby takingpartintheLondonMarathon.He’sbeentraininghard sinceNovemberoflastyear,withrunningtakingoverhis weekends,earlymornings,anddarkevenings.
“Ireadthat"themarathonisactuallyalltheworkandtraining -theracedayitselfisjustacelebrationofallthehardwork". Iamcertainlylookingforwardtocelebratingon21stApril.”
TheLondonMarathonhasalwaysbeenanultimategoalfor Tasleem.Aninjurymeantsheneverhadthechancetotake part,untilnow!ThisistheyearandTasleemhasbig fundraisinggoalstomatch.
“Nomatteryourage,orbackground,youcandoanything. There’renolimitationswithagoalandmotivation.”
Tasleem
CommunitySpotlight Page8
What else is new?
Hearaboutotherthingswehavebeenbusilyworking awayonrecentlyorupdatesyoumayhavemissed.
see you At our UCD Day?
Communityandconnectingwithothers livingwiththesameorsimilarrare conditionshasalwaysbeenattheheart ofourworkandthedesiresofthosewe support.
Inasteptowardsofferfurthersupportfor theseneeds,wearetryingsomething new!OurfirstUCDDayonSaturdaythe 29thofJune2024.
SowhatisaUCDDay?
Adaydedicatedtobringingtogetherthe wholeUreaCycleDisorderCommunityin personforconnecting,sharing,and learning.
LikeourCommunityConference,theday willbepackedwithsessionsfrom socialisingtotacklingtopicsofspecific importanceandrelevancetothe community.Thedifferenceisthatthese topicswillbefocusedonUCDs,rather thanIMDsasawhole.
Registernowtoletusknowyou’re comingandsecureyourplace!More informationtocomesoon.
RegisterNow
volunteering opportunities
MeetRhiannon,ournewestvolunteerto jointheteam:
“Hi,IamRhiannon!Iamastudentat universitystudyingbiologyandIam volunteeringwithMetabolicSupportUK. Iamverypassionateaboutmystudies andpromotingahealthyandhappy lifestyletothecommunity.
InmytimeatMSUKIwillberesearching andworkingonproducinginformative resourcesforfamiliesandpeopleliving withIMDs.Ilookforwardtoworkingwith theteamandtheopportunitytousemy knowledgeandskillstohaveapositive impactonthecommunity.”
Interestedinvolunteeringwithus?Email usatcontact@metabolicsupportuk.org toexpressyourinterest.
MSUKNews Page9
Didyouknowwepublishamonthly medicinesroundup?
Everymonth,wesharedetailsonthe latestmedicinesapprovedbyAWSMG (Wales),HealthNI(NorthernIreland), NICE(England),andSMC(Scotland).
Wealsosharedetailsaboutwhich medicinesarecurrentlyundergoing review.Thiswayyoucanstayupdated onthelatestdevelopmentsand approvalsacrosstheUK.
Weareawaitingnewsforthefollowing:
Niemann-Pick(OlipudaseAlfa)
Phenylketonuria(Sapropterin)
Clickheretofindoutmore.
Make your voice heard
Wearealwaysworkinghardto ensureyourvoiceandexperiences areleadingtheconversationsaroundyour conditionsandanysubsequentchanges.
Canyouaddyourvoicetoupcoming conversationsfor:
Arginase1Deficiency(ARG1d)
MolybdenumCofactorDeficiency(MoCD) TypeA
TherewillbeNICEcommitteemeetingslater thisyeardiscussingpotentialnewtreatments forARG1dandMoCDTypeA.
Helpusbetterunderstandtheday-to-daylife ofpeoplelivingwithARG1d andMoCDTypeA sowecanbetteradvocateforyouandyour lovedones.
Shareyourexperiencestoshapethese conversationbytakingtherelevantsurvey.
Feelingunsure?Contactusforachat!
We want to be where the people are
MoCDSurvey
ARG1d Survey
Weknowlifecanbebusy.Betweenwork,family,friends,school,errands,appointments andeverythinginbetweenitcanbehardtofindtimetofindsupport.Whichiswhywe arecomingtoyou!We’reattendingMetabolic Clinicsthisyear,tomeetyou,answerquestions, andprovidesomecompanyandentertainment whilstyouwait.
OurcurrentupcomingMetabolicClinicsare:
Monday13thofMay-Evelina
Thursday6thofJune-GOSH
Willweseeyouthere?Besuretosayhi!
Pleasenotealldatesaresubjecttochange
MSUKNews Page10
Findoutaboutsomeofthewaysyoucanget involved,supportingourworkandothers.
Resource Wrangling
Wewouldloveyourinsighttohelpexpand theresourcesavailableinourAdviceHub!
Doyouhaveanyexperienceofanyofthe followingtopicsthatyouwouldbehappyto share?
Portacaths
Transplants
Applyingfordeputyshipforsomeone withanIMD
Travelinsurancetips
Ifthere’sanothertopicyou’repassionate aboutandwouldliketocontributeto,do getintouchtoo.
Metabolic Connect
Doyoulivewith,orsupportsomeoneliving with,oneoftheconditionslistedbelow?
Considerjoiningourpeersupport programmetobematchedwithanother individualorfamilylookingtomeetothers whounderstand.
CobalaminCDeficiency
Fructose1,6bisphosphatasedeficiency
Hyperprolinaemiatype1
Klippel-FeilSyndrome
LP1NDeficiency
Triosephospha deficiency
inhowyoucanhelp?Wewouldlovetohe mailing contact@metabolicsupportuk.o
KeenonworkingmorecloselywithMetabolic SupportUK?Weneedyou!Yourvoiceisalwaysv inourwork. Andin2024wewillbeactivelyrecruitingforpa andvolunteerpositions. Clickheretoexpressyourinterestnowandwew beintouchoncepositionsgolive!
Notsureyet?Followoursocialmediatoseewh weareuptoandanynewannouncements.
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GetInvolved
Can you help?
“Are
Acommonquestioninsmalltalkyettravellingcan feellikenosmallfeat.We’vegotyoucovered!
Itmaynotfeellikeitwiththedreary weather,butwithsummerisjustaround thecorner!Andformanythatmeans beingoutsidemore,travelling,andeven goingonholiday.
Whetheryou’remakingplansorfeeling abitunsureofnavigatingtravelwithan inheritedmetabolicdisorder,or medication,we’vegotyoucoveredwith ourTravelResources.
Whetheryou’rehopingtotravelabroad orlookingabitclosertohome,our resourceswillhelpyoutotravelwith confidence. Visitourtraveladvicehub forhelpwith:
AccessibleTravelDestinations intheUK
AccessiblePublicTransportin theUK
TravelInsurance TravellingAbroad
Someofourcommunityhaveshared theirexperiencestravellingandthetips andtrickstheyfollowtohelpthemenjoy theirwonderfulholidays.
Learnsometriedandtestedtipsand tricksfromMel’smanytripswith medication,includingtemperature controlledinterjectablemedication.
OrfollowPoppyandherfamilythrough theirIbizaholidayfromtheearly planningandthroughtheir10daystay.
Resourcescurrentlyinclude:
Poppy’sIbizaHoliday!-Travelling withHHHSyndrome
Livingwithalong-termcondition–Mel’sTravelTips
Travellingwithmedication–Mel Williams
Clickheretoexplore!
Lookingforsupportwithsomething notmentionedhere?
Neverfear!Reachoutandwe’llsee howwecanbesthelpyou.
Intheferryqueue!
AdviceSpotlight Page12
you going anywhere nice this year?”
All a-board!
Catchuponrecentchangestoourboardof trusteesandsomenewmembers.
Ourboardcurrentlyhassevenmembers,eachwitharange ofpersonalandprofessionalexperienceconnectedtoIMDs.
Recentchangessawusmovetoaco-chairmodelwith CarlLanderandPaulCoxtakingupthemantle.This changebetterreflectsourongoingprioritisationofour communityandlivedexperienceattheheartofourwork.
MeetourCo-Chairs
Carl Lander
Hi,I’mCarlandIamreallyexcitedtobecome aCo-ChairofMetabolicSupportUKandhelp leadthenextstepsforMSUK.
Havingbeendiagnosedwithararefromof anaemia(PyruvateKinaseDeficiency)atthe ageoffour,Ihaveexperiencedawiderange oftreatmentsovertheyears.Havingspent mycareerinnursingandhealthservice management.Iampassionateabout advocatingforthelivedexperienceofpeople withararediseaseandtheircarers.
Inmyroleasco-chair,Iparticularlylook forwardtohelpingempowerpeoplewithan InheritedMetabolicDiseaseandtheirfamilies toadvocateforthebest,evidence-based care.Ialsowishtoensurethatpeoplehave accesstothewidestsupport,including emotionalandpsychologicalsupportand financialwellbeingadvice.
Paul Cox
Hello,I'mPaulandIamdelightedtobe electedco-chairforMetabolicSupportUK.
Mybackgroundisascientificeducation, followedbynow30years(gulp!)experience withinthePharmaceuticalindustry,firstly workinginclinicalresearchandclinicaltrials andthenwithinavarietyofcommercial functions.Mostofthatcommercial experienceandlaunchinghasbeeninrare, geneticandinalotofcases,metabolic conditionsandIhaveoftenbeenemployee number1inanewgrouporindeedanew company,soamwellusedtorollingupmy sleevestodowhateverisnecessary!
Currently,IamtheGeneralManagerfor ApellisPharmaceuticals,establishingthe companyacrosstheUK,Irelandandthe Nordicsinpreparationforlaunchofa therapyinacurrentlyuntreatedophthalmic condition.Ihopetobeabletosupportand guideKirstyandherteamwithmyown knowledgeandbusinessexperience,plus directhandsonhelpasneededand appropriate.Asastart,Ihavesignedupto oneoftheLondonMarathonplacesfor2024 sowillbepoundingthestreetstoraisesome fundsforMSUK.
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TeamSpotlight
Catchuponrecentchangestoourboardof trusteesandsomenewmembers. All a-board!
Puttingfacestothenames!
Weareexcitedtotheseewhatwecanachievetogetheroverthecomingyears.Whilstwe arelookingforwardwithanticipation,wemustalsotakesometimetolookbackand thankeveryonewhohasplayedapartingettinguswherewearetoday.Thankyoutoour community,partners,andsponsors.AndthankyoutootoourpreviousChairoftheBoard, DrElinHafDavies.
IthasbeenanhonourtoleadMSUKoverrecent years,andespeciallytomark40yearssincewe werefoundedtoserveourIMDcommunity.MSUKis nowreadyforthenextchapterwithastrongteam, dedicatedBoard,andasoundfinancialfooting. Iamexcitedtoseewhatcomesnext.
DrElinHafDavies(Chair,MSUK,2019-2024)
PleasejointheMSUKteaminsayingthankyouandgoodbyewiththesewordsfromour CEO,KirstyHoyle:
“DrElinHafDaviesisaforceofnatureforIMD,andallrare,communitiesandweareso gratefulforherleadershipandsupport.Welookforwardtoabrightfuture-which wouldn'thavehappenedwithoutElin'svisionandkindness.Thankyouforeverything”
d l b h i i h b d b h
TeamSpotlight
Dr Robert Pugh DR Roshni Vara Paul Roper
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Clickheretofindoutmoreabouteachmember!
Fundraising
How can you help?
Wecouldn’texistwithoutyou.Wearealwaysworkingtoensureanyone affectedbyanInheritedMetabolicDisorderisseen,heard,andsupported
Whetheryourplanningyourholidaysorjustshoppingonline,make sureyouareusingeasyfundraisingtosupportMSUKatnoextracost!
Over7,000brandswilldonatetouswhenyouuseeasyfundraisingto shopwiththem–atnoextracosttoyourself!Allyouneedtodoissign upandremembertouseeasyfundraisingwheneveryoushoponline.
It’seasyandcompletelyFREE!Thesedonationsreallyaddup,so pleasesignuptosupportusandmakeyouronlineshoppingcount:
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Youarealwayswelcometoreachouttotheteam atMetabolicSupportUK,inawaythatsuitsyou.You cancallourfreephonehelplineMonday-Friday,10am-4pm, fillinthecontactformonourwebsite,orsendusanemail.
www.metabolicsupportuk.org
contact@metabolicsupportuk.org
GetInvolved Page18
@MetabolicSupportUK U E B X S T E S T U W T D J F K G O C R E F X K H R O H T U L N D E O R C I Y O I S Q R N A A Z R V N H R P Z C N L A D O H A A M E F P U I Z O K N R A C L H N C U E N O T E C S A N I Q S J S M I R T S C D P I I P N U J V L F E E W E R L S D X A O O C A R G O N H R A I A D Y I M N Y S I F V C Q N N X F C O M M U N I T Y K E T G W C H O C J A G F U L S K J A N O H T A R A M M K W O V T M H P Q X R E E T N U L O V J C T L K S P Q C L L X X Y W B U
in touch
@MetabolicSupportUK @weareMSUK
Get
Metabolic Support UK is a charity registered in England and Wales (1089588) in Scotland (SCO44634) and a Company Limited by Guarantee (04267454).
Change Clinics Community Conference Fundraising Lottery Marathon Resources Share Support Test Think Transplant Volunteer
08006523181 Ammonia
