Metabolic Matters Y O U R M O N T H L Y M S U K M A G A Z I N E A U G U S T 2 0 2 2 Glut1 deficiency syndrome A D E E P D I V E I N T O T H E S I G N S , S Y M P T O M S , D I A G N O S I S A N D D I E T
KnowyourIMD:GLUT1 deficiencysyndrome(Pages 4-5) Strongertogether:GLUT1 DeficiencyUK(Pages6-7) Weworkforyou(Pages8-9) CystinosisFoundationUK (Pages10-11) TheLondonMarathon:Support ourrunners(Page12) Getinvolved(Page13) C O N T E N T S
Whatisit? Glucosetransportertype1deficiencysyndrome(Glut1DS)isarare geneticmetabolicdisordercharacterisedbydeficiencyofaprotein thatisrequiredforglucosetocrosstheblood-brainbarrierandother tissuebarriers. Symptoms
Diagnosis Ifthisconditionissuspected,diagnosisofthisconditionisconductedby lumbarpuncturewhichtakesasampleofthecerebrospinalfluid(CSF) thatsurroundsyourspine.Abloodsampleisalsotaken. Thesesamplesarethenanalysedinaclinicalbiochemistrydepartmentin thehospital'slabs,aimingtoinvestigatetheratioofglucosebetweenthe bloodsampleandtheCSF.Thisleveltellsmedicalprofessionalswhether thisconditionislikelysofurtheranalysiscantakeplace. Furtherinvestigationmayinvolvegenetictesting,aimingtofinda mutationinthegeneresponsibleforthiscondition. Treatment Thereisnocureforthisconditionbutthoseaffectedfollowa ketogenicdiet(high-fatandlow-carbohydrates)whichhelps preventseizures. Glut1DeficiencyUK ForinformationandsupportforthisconditionintheUKplease visittheGlut1DeficiencyUKwebsite:
Aboutthecharity
Ourwork
Thesummerisnearlyover,andithasbeenaproductivesummerforthe MSUKteam. Someofourteammembershavebeenenjoyingtimewiththeirfamiliesduring thesummer,exploringdifferentcountriesorareasoftheUK.We’vealsoreally enjoyedhearingaboutallofyoursummerholidayadventuresandactivities.The UKheatwavehasalsobeenauniqueexperienceformanyofusandwehopeyou managedtostaycoolandsafeduringthesummer.Augusthasinvolvedalotof ‘workingbehindthescenes’fortheMSUKteam,readontofindoutwhatwehave beenuptothissummer. Continuingtodevelopourresources OurPatientCommunitiesManagerHelenhasbeenbusydevelopingourmental healthandschools’resources.Helenhasbeenbusyresearchingthebesttoolkits, workingwithprofessionalsandspeakingtomembersofourcommunitytogather feedbackandadvice.Helenisputtingthefinishingtouchestotheseresources, andtheywillsoonbeavailableonournewwebsite. ReviewingourData OurHeadofInsightJess,MarketingandCommunicationsCoordinatorJonathan andProjectAssistantMegan,havebeenworkingwithpartnerstocollatedataon HospitalEpisodeStatistics.DidyouknowthateachInheritedMetabolicDisorder hasitsowncodecalledanICD10code?Thiscodeisusedtocollatedatasuchas thenumberoftimesyouattendhospitaleitherinanemergencyorforan appointment.Jess,JonathanandMeganhavebeengatheringdataontheICD10 codestoinformourfutureworkandactivities. Puttingthefinishingtouchestoourwebsite Jonathanhasbeenbusyworkingwithanindependentwebsitedeveloper andputtingthefinishingtouchestoourwebsite.Ournewwebsite includesaresourcehub,disorderhub,policyandpositioningstatements areaandmuchmore.Wecan’twaittoshareitwithyou!Keepaneyeon ourcommunicationsthroughoutSeptemberfordetailsofthelaunch.
Cystinosisisararemetabolicgeneticconditioninwhichtheaminoacid, cysteine,buildsupandformscrystals,damagingcellsthroughoutthebody. Thereareapproximately200casesintheUKwith2-3diagnosedeachyear. Organsfirstaffectedarethekidneysandeyes,followedlaterbymuscles, pancreasandotherpartsofthebody.Althoughthereisnocure,thecelldamage canbeslowedwithapunishingregimeofmedication.Childrendiagnosedwith cystinosisultimatelyrequireakidneytransplant,usuallybeforetheirearly20s. Strongertogether: CystinosisFoundationUK Aboutthecharity CFUKwasfoundedin1998(charitystatusin1999)byJonathanTerry,whohad cystinosis.CFUKTrusteesareallvolunteerswhoworktodeliverthekeyaims of: IMPROVINGpatientsoutcomes,treatmentsandresearch INFORMINGpatients,familiesandhealthcareprofessionals SHARINGstories,experienceandanswers. WhatisCystinosis? Fundingresearch
Covidhasbeenespeciallyisolatingforthosewithararecondition.Overthe past2yearsCFUKhasrun‘CystinosisConnect’onlinemeetingsandonline updatesessionsincludingresearchersandclinicians.
Althoughwehope thesewilltranslatetofacetofacemeetingsinthefuture,theonline experiencehasmadethegeographicalchallengeofbringingpeople togethermuchsimpler.CFUKhasalsolauncheditsfirstemailnewsletterthis yearandweareencouragingeveryoneconnectedwithCystinosistosign up.Notonlywillthismakeitmucheasiertocommunicatewithour communitybutitcanhelpustargetmorelocalsupport.
Tillthenwecontinuetofundraiseto supportallouractivitiesforbetter treatments,betterunderstandingand bettercarecoordination.
Althoughcystinosispatientsarefortunatetohaveamedication,the treatmentregimeispunishing-oralcysteamine(every6hours)andeye drops(everyhourwhenawake).Delayedreleasetreatmentsthatcan relievethisburdenandimproveadherencehaveonlybeenapprovedfor routineprescriptioninsomeUKregions.CFUKworkswithothercharities (includingMSUK)toimproveaccesstomedicationsforallUKpatients.The NHShasfinallyagreedtosupport3specialistcentresforCystinosis (locationstobeannouncedlaterthisyear)whichshouldvastlyimprove thecareforcystinosiscommunity.
Connectingwiththeworld
Accesstomedicinesandtreatment
TheworldwidecystinosiscommunityisveryactiveandCFUKis partofCystinosisNetworkEuropeandtheworldwideCommunity AdvisoryBoard,helpingtobringthepatientvoicetoresearchers andpharmaceuticalcompanies.
Ourdream
Likeeverycharitysupportingmetabolic conditionsourultimategoalisforacure.
Connectingwiththecommunity
Getinvolved
