Metabolic Matters (Issue 14)

Page 1

Travellingthissummer? We’vegotyoucovered,Page12

Catchuponthemostrecent changestotheboard,Page13 Page7-8

2024CommunityConference SavetheDate!Page6

‘ThinkAmmonia!’ReadLucas’sstory,Page4

Y O U R Q U A R T E R L Y M S U K M A G A Z I N E S P R I N G 2 0 2 4 S P R I N G 2 0 2 4
Metabolic Matters Metabolic Matters
Meetthisyear’s#TeamMSUK forthe2024LondonMarathon

CONTENTS

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Page3-5

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Page7-8

Page9-10

CEOForeword:

ThinkAmmonia!Campaign

Lucas’sStory-Page4

SavetheDate!Our2024Commu

MeetourLondonMarathonRunn

WhatElseisNew?

UCDDaySavetheDate!

MeetRhiannon

MonthlyMedicineRoundup

MakeYourVoiceHeard

UpcomingClinicVisits

Page11

Canyouhelp?

ResourceWrangling

MetabolicConnect

Page12

Page13-14

Page17

“Areyougoinganywherenicethisye

AllA-Board-Hearaboutrecentchan

HowCanYouHelp?

EasyFundraising

TaketheLeapwithcharitySkydivin

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GetinTouch&Wordsearch

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

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