Facing Huntington’s Disease · 2017-11-06 · Huntington’s Disease Organisations. It has been edited by the Huntington’s Disease Association of Ireland with contributions from
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FacingHuntington’sDisease
FacingHuntington’sDiseaseA Handbook for families and friends
Huntington’s DiseaseAssociation of Ireland
Coronal section of a normal brain
c = Caudate Nucleus p = Putamen
Coronal section of a HD brain
CONTENTS
1 INTRODUCTION
Thepurposeofthisbook 2
HDoverview 2
AboutHDAI 3
History 4
2 THE FACTS
WhathappensInthebrain 5
Symptoms 5
JuvenileHuntington’sDisease 5
Diseaseprogression 5
Psychologicalaspects 6
Managementoptions 7
Selfmanagement 7
Cognitivechanges 7
Mentalcapacityandlegalissues 8
Insummary 8
3 GENETIC ASPECTS OF HD
InheritanceofHD 9
Thegenetictest 9
Geneticclinics 10
Geneticcounselling 11
AtriskofHD-Tellingthechildren 11
Copingwithbeingatrisk 12
Relationships 13
Whetherornottohavechildren 13
4 PRACTICAL PROBLEMS
Rolechanges 14
Sexualandmaritalissues 14
Familytensions 14
Stoppingwork 15
Incomeandfinancialmatters 15
Otherworries 15
5 CARE OF THE PERSON WITH HD
Dietandnutrition 16
Eating 16
Tipsforgoodcommunication 17
Tipstowardsavoidingproblems 17
Carersupport 17
Healthprofessionals 18
Otherservices 19
6 TIPS TO COPE
Carerswellbeing 20
TheImportanceofrationalthinking 20
Financialsupport 21
Sourcesofinformation 22
Othervoluntaryorganisations 22
Howyoucanhelp 23
Donations 23
Informingothers 24
1
INTRODUCTION
THE PURPOSE OF THIS BOOK
ThisbookletisintendedtogiveanintroductiontoHuntington’sDisease(HD)andtheissuesthatthisconditionraisesforthesymptomaticindividual,thoseatrisk,familymembers,familycarersandprofessionalsworkingwithpeopleaffectedbyHD.
Itisnotareplacementformoredetailedtextsorprofessionalinformationbutpresentsthefactsinwhatishopedisastraightforwardandhelpfulway.FurtherinformationisavailableintheHDHandbooks:
Caregivers Handbook, Physicians Guide and Understanding Behaviour.
Various Thank You’s
Thecontentsofthisbookowemuchtootherpublications,especiallymaterialkindlymadeavailablebyInternationalHuntington’sDiseaseOrganisations.IthasbeeneditedbytheHuntington’sDiseaseAssociationofIrelandwithcontributionsfromProfessorAndrewGreen,NationalCentreforMedicalGenetics,DrNiallPender,Neuropsychologist,BeaumontHospitalandHDfamilymembers.The2012editionisprintedwithfinancialassistancefromtheHospitalSaturdayFund.
Feedback Invited
Huntington’sDiseaseisaconditionwithmanyfacetsandinattemptingtodescribethesefacets,theauthorsdonotunderestimatetherangeofproblemsthattheconditionbrings;itisafeatureofHD
thattherearemanyexamplesofdifferencesfromthenorm,andthusreadersmayhavedirectexperiencewhichdiffersfromthatdetailedinthispublication.Huntington’sDiseaseAssociationofIreland(HDAI)welcomesyourfeedback.
HD OVERVIEW
Huntington’sDiseaseisahereditaryneurodegenerativedisorderthatcausesprogressivedeteriorationofthephysical,cognitiveandemotionalself.MostpeoplewithHDdevelopthesymptomsbetweentheagesof30and50,althoughtheremaybesubtlechangesmuchearlier.About5-10%ofpeopleaffectedhaveonsetofsymptomsbeforeage20(JuvenileHD)and10%haveonsetafterage60.InthisbookletapersonwithHDsymptomsisreferredtoasapwHD.
HDisageneticconditionwitheachchildofanaffectedparenthavingaoneintwochanceor50%likelihoodofinheritingthegene.Bothmenandwomenhaveequalchancesofbeingaffected.Peoplewiththeabnormalgenewillalmostalwaysdevelopthedisease,unlesstheydieofothercausespriortodevelopingsymptoms.
PeoplewhodonotinherittheHDgenewillnotdevelopthedisease,neitherwilltheirchildren,ortheirchildren’schildren.Thediseasedoesnotskipageneration.
Theaveragesurvivaltimeafterdiagnosisisabout15-20years,butsomepeoplehavelived30or40yearswithHD.
Maintaininggeneralhealthandwell-being,willbringaboutimprovementsinthepwHD’squalityoflife.
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1
3
HDisacomplexdiseaseandrequiresamultidisciplinaryapproach,involvingarangeofservicesthatarerequiredateach,differingstageofaperson’slifewiththedisease.
Clinicalassessmentofmotor,cognitive,emotionalormentalhealthsymptomsshoulddetermineservicesrequired.Rehabilitativetherapyincluding:physio,occupational,speech&languageanddiet&nutritionexpertisecanhelpmaintainphysicalfunction.Supportandinformation,psychological,neuropsychologicalorpsychiatricservicescanhelpwithcognitiveandpsychiatricchanges.
Maintainingahealthybodyweightisessentialbecausepeoplewhoareunderweightlosemusclemassandthereforefeelweaker,becomemoreapatheticanddepressedaremorepronetocatchinfections,developpressureulcersandtakelongertorecoverfromillness.
Anecdotalevidencesuggeststhatprovidingahighcalorieintakecanhelptoreducechoreamovements,improvecognitionandimprovespeechandswallowing.
Absent family history of HD
SomeindividualsdevelopHDwithouteverknowingtheywereatrisk,becausetheyhavenoknownfamilymemberswiththecondition.Thisoccursin2-5%ofallcases.Sometimesthiscanbeexplainedbyearlydeathofaparentwhocarriedthegene,butdidnotlivelongenoughtomanifestthesymptoms,byadoption,orbymistakenpaternity.Othersrepresent“new mutations,”causedbyrareexpansionsofparentalgeneswithahigh-normalCAGrepeatnumber(27-35repeats)intothe
affectedrangeinthechild.Ageneticcounsellorcanprovideinformationonthis.
Finding a Cure or Treatment
Huntington’sDiseaseisaneurodegenerativedisordercausedbyanexpansionintheIT-15,orhuntingtin,geneonchromosome4,whichencodestheproteinHuntington.AlthoughthereiscurrentlynocureforHD,manyofthesymptomscanbetreated.Researchcontinues,bringinghopeforthefutureintermsoffindingbettertreatmentsordelaying/reversingtheprogressionofsymptoms.
Delaying onset
Recentresearchsuggeststhatleadingamoreactivephysicalandintellectuallifestylecandelaytheonsetofsymptoms.Keepingphysicallyandmentallyactivefromanearlyagecanhaveapositiveimpactforpeopleatrisk.
Prevalence of HD
ProfessorPatrickMorrisonconductedasurveyinNorthernIrelandwhichestimatestheprevalencefor2001of10·6peopleper100000(LancetNeurology).BasedontheRepublicofIrelandpopulationof4,670,976(July2011)thiswouldindicateapproximately500withtheconditionwithafurther2500atrisk.WhileHDisrelativelyrare,over9000familymembersinIrelandmayrequiresupportandinformation.
ABOUT HDAI
HDAIisanationalvoluntaryorganisationestablishedtoprovideconsultation,informationandindividualisedsupporttothosediagnosedwithHuntington’s
Disease,theirfamiliesandtheirhealthandsocialcareteams.HDAIisaregisteredcharityincorporatedin1998.
InformationisregularlyupdatedthroughlinkswithInternational,EuropeanandotherNationalAssociations.BecauseHDAIhasbeendealingspecificallywithHDinIrelandforover25years,theAssociationhasextensiveexpertiseandknowledgeinsupportingindividualsandfamiliesaffected.
HDAIexiststoprovideauniqueserviceofferingunderstanding,informationandsupporttoallthoseaffectedbyHD.Confidentialityisrespected.
Services include:
• Anationalinformation,supportand advocacyservicebasedinDublin whichprovidesinformationand supporttofamilies;individualsatrisk ofHD;carersandhealthandsocialcare professionalsthroughoutthecountry
• AFamilySupportOfficeravailableto meetfamilymembersincrisis
• Accesstocounsellingforthoseinneed
• Supportgroupmeetings/carers workshopsregionally
• Anannualinformationmeetingand respiteweekendavailabletopeople withHDandtheirfamilies
• Publicationsincludingleaflets, booklets,andarticlescovering themanyissuesspecifictoHD availableforfamilies,socialcare andhealthprofessionalsonrequest
• Aquarterlynewsletterandannual magazine
• LoanofspecialisedHDaidsand equipment
• Talksandinformationseminarson request
• Therapeutictreatmentsforpeoplein themidstagesofHD
• HDIDcardsprovidedonrequest
InformationisavailablebycontactingtheHDAIofficeorreferringtothewebsitewww.huntingtons.ie
HISTORY
Huntington’sDiseasewasfirstdescribedin1872whenanAmericandoctor,GeorgeHuntington,hadhispaperpublishedintheMedicalandSurgicalReporterofPhiladelphiaandthehereditarydisorderhedescribedbecameknownasHuntington’sChorea.Theword“chorea”isderivedfromLatinandGreekwordsmeaningchorusorgroupofdancers.TodaythetermHuntington’sDiseaseratherthanHuntington’sChoreaismorecommonbecausewehavelearnedthatsomepatientsdisplayamorerigidformofthediseaseandsomemayshowmoreintellectualandbehaviouraldeteriorationratherthanphysicalsymptomsespeciallyintheearlierstagesoftheillness.
Today,earlierdiagnosisandbettermanagementprovidesanimprovedqualityoflifeforpeoplewiththiscondition.Ongoingresearchprovidesgreaterhope
forthefuture.
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THE FACTS
WHAT HAPPENS IN THE BRAIN
Huntington’sDiseaseiscausedbythe
destructionofbraincells,particularlyin
thosepartsofthebrainknownasthebasal
gangliaandthecerebralcortex.
(See diagram of HD brain on inside cover).
Thedisordermanifestsasatriadofmotor,
cognitive,andpsychiatricsymptomswhich
begininsidiouslyandprogressovermany
years.IfyoufearthatHDmaybepresent
thebestwaytoresolveworryingquestions
istoseeaspecialistwhoisexperienced
inthediagnosisandtreatmentof
neurologicaldisorders.AskyourGPtorefer
youtoaNeurologist.
SYMPTOMS
Themovementdisorderischaracterised
bytheemergenceofinvoluntary
movements,orchoreaandbyimpairment
ofvoluntarymovements.Symptoms
includereducedmanualdexterity,
slurredspeech,swallowingdifficulties,
problemswithbalance,andfalls.Both
choreaandimpairmentofvoluntary
movementsprogressinthemiddlestages
ofHuntington’sdisease,butlater,chorea
oftendeclinesaspatientsbecomerigidand
unabletoinitiatevoluntarymovements.
Aminorityofpeopledevelopaformof
muscularrigidityratherthanchorea.
Thecognitivedisorderischaracterised
initiallybyalossofspeedandflexibility.
Thismaybeseenfirstincomplextasks,
whenthepersonisunabletokeepupwith
thepaceandlackstheflexibilityrequired
toalternatebetweentasks.
Cognitivelossesaccumulateandindividuals
developmoreglobalimpairmentsinthe
laterstagesofthedisease.Themost
commonspecificpsychiatricdisorder
inHuntington’sdiseaseisdepression.
Individualsmayalsosufferfrommaniaor
obsessivepreoccupations.
Othersymptoms(whichmaynot
fitaspecificpsychiatriccategory)
includeirritability,anxiety,agitation,
impulsivity,apathy,socialwithdrawaland
obsessiveness.Symptomsvaryoverthe
courseofthedisorder.Symptomsalsovary
fromindividualtoindividual,evenwithin
afamily.SomesymptomsmaynotbeHD
related.IndividualswithHDcandevelop
otherunrelatedillnessesthereforeifin
doubtitisbesttodiscusswiththe
person’sGP.
JUVENILE HUNTINGTON’S DISEASE
InJuvenileHuntington’sDisease(JHD)
symptomsmanifestinpeoplebeforethe
ageoftwentyyears.JHDoccursinabout
5-10%ofcasesofHD.JHDcanpresent
withsomewhatdifferentfeaturestoadult
onset.Choreaisamuchlessprominent
feature.
DISEASE PROGRESSION
Thediseasecanberoughlydivided
intothreestages.Earlyinthedisorder,
individualsmaycontinuetowork,drive,
andliveindependently.
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2
Symptomsmayincludeminorinvoluntary
movements,subtlelossofcoordination,
difficultiesinproblemsolving,andperhaps
adepressedorirritablemood.
Inthemiddlestage,individualswill
probablynotbeabletoworkordrive,
managefinancesorperformhousehold
chores,butwillbeabletoeat,dress,and
attendtopersonalhygienewithassistance.
Theremaybeproblemswithswallowing,
balance,falls,andweightloss.Problem
solvingbecomesmoredifficultbecause
individualscannotsequence,organise,or
prioritiseinformationastheydidbefore.
IntheadvancedstageofHD,patientswill
requireassistanceinallactivitiesofdaily
living.
Regularrespitebreaksandcommunity
supportcanhelpkeepthepwHDathome
forlonger.Itisimportanttodiscussissues
relatingtoendoflifecarebeforethe
personlosestheirabilitytocommunicate.
PSYCHOLOGICAL ASPECTS
By Dr Niall Pender, Principal Clinical
Neuropsychologist, Beaumont Hospital,
Dublin
AdiagnosisofHDinafamilyisa
devastatingandconfusingtimefor
everyone,whetheryouareaparent,
spouse,siblingorchild,thediagnosis
bringsagreatdealofemotions.These
rangefromfear,anxiety,anger,sadness
andguiltwhetheryouareunaffected,
positivewiththegeneorhavenothadthe
test.Gettinghelpandinformationisthe
firststageintryingtomanagethedisease.
Forthepersonwiththegeneitcanbe
difficulttoliveanormallifeasonewaits
fortheinitialsignsofthedisease.This
isverynormalbutveryoftenpeople
misinterpretnormaleverydaylapses
inthinkingandbehaviourorsimple
clumsinessassignsoftheonsetofthe
condition.Familymemberswatchthe
personanditcanbedifficulttoforget
aboutthedisease.
Manypeoplefeelthattheybecome
definedbythedisease.Unfortunately,
HDcanslowlyaffectone’sabilityto
managerelationshipsandcontrol
emotions.Peoplecanbecomemore
irritableandattimesirrational.Thisis
becauseHDaffectspathwaysfromthe
frontallobesofthebrain(whichcontrol
andmanagebehaviourandemotion)to
otherpartsofthebrain.
Thepersonthemselveshasnocontrolover
thesechangesandtheyareasconfusingto
themaseveryoneelse.Thebrainchanges
canaffectthinkingskillssuchasmemory
recall,learning,understandingemotion,
planningandmentalflexibility.Theseare
oftenveryearlychangesforpeople.As
HDprogressesitcanalsobeassociated
withhighratesofdepressionandmood
changesandtheseareterriblydisablingfor
manypeople.
Sometimesthesechangesinemotionand
thinkingcanresultinpeoplestopping
workoreducationandfallingoutwith
theirfamily.Duetothemannerinwhich
thebrainchangesoccur,manypeoplewith
thediseasehavelittleawarenessofthe
severityoftheirsymptoms.
6
Thiscan,ofcourse,beprotectiveforthe
personthemselvesbutcancausegreat
heartacheforfamilyandfriends.
MANAGEMENT OPTIONS
IhaveworkedwithpeoplewithHDfor
manyyearsatvariousstagesofthedisease.
Oneofthemanyquestionsaskedis“What
can be done about these changes”?Well
theinitialpointistobegintogethelp.The
HDAIisafirstportformanypeopleand
knowledgeisvitaltoaclearunderstanding
ofthecondition.Formanypeopleitishard
totalktoother’saboutthedisease.Iwould
encourageyoutoattendyourGPandseek
helpandadvice.
Oftenmanydifficultiescanbemanaged
withaclearmulti-disciplinarytreatment
plan.Whilespecialistservicesforpeople
withHDandtheirfamiliesaresorely
lackinginIrelandthereareattempts
toimprovethese.Thereisaneedfor
symptomaticmanagementofthinking
changes,moodchangesandbehavioural
treatment.Thesegotogetherwiththe
ongoingmedicaltreatment.Itisvitalthat
thecareofpeoplewithHDandtheir
familiesisseenasamulti-disciplinary
experience.Throughthisplannedinput,a
goodqualityoflifecanbemaintainedfor
manyyears.
SELF MANAGEMENT
Self-managementistheideathateach
personplaysaroleinmanagingtheir
ownconditioninsofarasthatispossible
forthem.Therearemanyfactorsthat
canhelpapersonmangetheircondition
bettersuchasgettingbetterinformed
(fromreliablesources)abouttheillness,
gettingassistanceandsupportfrom
familymembers,andregularsupportfrom
specialistsaboutmedication,dietand
fitness.
Byputtingplansintoplacetomanage
difficultiesonecanoffsetthedevelopment
ofthesymptomsforalong-time.Iwould
alsourgecarersandfamilymembersto
seekhelptoaddresstheirconcernsand
worries.Theextentofdistressexperienced
bycarersissignificantandcanalsoresult
inpsychologicaldifficulties.Manygene
negativefamilymemberssufferfrom
terribleemotionaldifficultiesandcan
benefitfromsupportivepsychological
treatment.
COGNITIVE CHANGES
CognitivechangesarethosethatIsee
mostoftenasaneuropsychologist
andtheseincludechangesinmemory,
understandingemotions,poor
concentrationandpoorplanning,mental
flexibilityandmulti-tasking.Hereissome
adviceformanagingtheseonadaytoday
basis.
1. Anychangestothebraincanslow
downbrainfunction.Therefore,do
notoverloadthepersonwithlotsof
demands
2. Rememberthe“little and often”rule
formemory.Smallamountsof
informationdeliveredfrequentlyare
morelikelytoberemembered
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3. Donotrushthepersontoprovide answersormakedecisions
4. Fatigueisverycommoninneurological conditions.Takeregularrests
5. Trytoreducedistractionwhenlearning informationorpreformingtasksasthis willhelpconcentration
6. Remembertousediaries,memory aids,calendars,phonesorcomputers toremember.Promptinghelps. Recognitioniseasierthanrecall
7. Taketimetoplanyourdayand activities.Reviewthedayattheend andmakelistsofactiviesandtasksto complete
8. Ifyouhaveworriesandconcerns pleaseaskyourdoctorortheHDAI foradviceandreferraltospecialists. Sometimestheworryaboutsymptoms
canbeeasedwithhelpandadvice
MENTAL CAPACITY AND LEGAL ISSUES
FollowingfromthefactthatHDaffects
thinkingandintellectualabilityovertime
itisimportanttoconsiderthelegalissues
involvedindecisionmaking.Importantly,
asHDisassociatedwithaknownpattern
ofthinkingdifficultieswhichcanaffect
insight,awareness,planningandmemory
itisalwayswisetoconsidertalkingto
asolicitoraboutissuesarounddecision
making.Thiscouldbeaboutfinancial
planning,treatmentdecisions(which
shouldalsobediscussedwithyourdoctor)
andissuesaboutlivingarrangements
andpalliativecare.Itisbesttobeginto
thinkofthese(eventhoughitcanbe
upsetting)earlyinthediseasecourseso
thatyourownwishesandfeelingscanbe
considered.Yoursolicitorcanhelpwith
theseissues.
IN SUMMARY
HDisassociatedwitharangeof
behavioural,thinkingandemotional
changesbutduetotheverynatureof
thedisease,thereisnouniformpattern
ofcognitiveimpairment.Variationwithin
andbetweenfamiliesiscommonandit
isveryhardtopredicttheexactchanges
thatwillhappentoeachperson.Iwould
urgecarefulplanning,seekingtreatment
forbothaffectedandunaffectedfamily
membersandtryingtoavoidwatching
forsymptomstooclosely.Manyeveryday
lapsesinthinkingandchangesinmood
arenormalandnotsinistersignsofthe
disease.
1. Cognitivedifficultiesarecommonin HDbuttheirpatternisvariablewithin andbetweenfamilies
2. Thesedifficultiescomefrom inefficienciesinhowthebrain processesinformation
3. Themostfrequentchangesarein attention/concentration,memoryand planning
4. Aneuropsychologicalassessmentwill identifywhichaspectsareweakand whicharewellmaintainedforeach individual
5. Depression,worry,andbehavioural difficultiesareallcommonsymptoms andpsychologicalhelpiseffectivein
managingthesedifficulties
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GENETIC ASPECTS OF HUNTINGTON’S DISEASE
INHERITANCE OF HD
HDispassedfromonegenerationtothe
nextbecauseofanalterationinoneof
themanygeneseachofusinheritsfrom
ourparents.ThegenethatcausesHDis
calledIT15.Itisinheritedinanautosomal
dominantmanner.Thismeansthatifeither
parenthasthealteredHDgene,eachson
anddaughterhasa50%or1in2chance
ofinheritingornotinheritingHuntington’s
Disease.
Afiftypercentchancedoesnotmeanthat
exactlyhalfthechildrenwillgetthedisease
inafamilywherethealteredHDgeneis
knowntobepresent.Eachindividualchild
ofapersonwithanalteredHDgenestands
a50%or1in2chanceatthemoment
ofconceptionofinheritingthealteredHD
gene.Thiscouldmean,forexample,that
onechildinafamilyoffourchildrenwill
developHD,ortwomaygetit,orthree,
orperhapsallfour,ornone.Eachperson
faceshisorherownfiftypercentchance
irrespectiveofwhetheranyofhisorher
brothersorsistersisaffectedornot.An
alteredHDgeneneverskipsageneration.
Itdoesnotappearinonegeneration,
skipthenext,thenreappearinathirdor
subsequentgeneration.Ifapersondoes
nothaveanalteredHDgene,theycannot
passHDontotheirchildren.
However,noteverybodywithHDwillhave
aclearlyaffectedparent.Sometimesa
parentwhohasanalteredHDgenecandie
fromsomethingunrelatedtoHD,before
evershowingsignsofHD.Inthatcase,
theirsonordaughtercouldbeaffected,
withoutanapparentlyaffectedparent.
THE GENETIC TEST
Discovery of the HD gene
ThegenewhichwhenalteredcausesHD
wasisolatedinMarch1993.TheIT15gene
islocatedonthetipoftheshortarmof
chromosome4.Theabnormalitywhich
causesHDisanexpansionoftheDNA
sequenceofanotherwisenormalgene.
Normalhuntingtingenescontain10-35
“CAG repeats”.Repeatsizesof27-35are
attheupperendofthenormalrange,
andwillnotresultinHuntington’sdisease,
butsometimesincreaseintotheabnormal
rangeinfuturegenerations.
36-39repeatsareatthelowendofthe
abnormalrange;anindividualwiththis
resultmaydevelopHDormaylivea
normallifespanwithoutdevelopingthe
condition.Peoplewith40ormorerepeats
willdevelopHuntington’sdiseaseifthey
liveanormallifespan.
What is a diagnostic and a predictive test?
Adiagnostictestisusedtoconfirmthe
diagnosisofHDinapersonshowing
symptomsandsignsofthedisease.The
testiscarriedouttoconfirmaclinical
likelihoodthatapersonalreadyhasHD.
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3
ApredictivetestforHDiscarriedoutin
ahealthyperson,whohasnosignsor
symptomsofHD,butwhohasafamily
historyofHD.Thepredictivetestwill
determinewhetherthatpersonhasaHD
genealteration.IfthepersonhasaHD
genealteration,theywillalmostcertainly
developtheconditionintheirlifetime.
Noteveryonewithafamilyhistoryof
HDwishestopursueapredictivegenetic
HDtest,andhavingthetestremainsan
individualchoice.
The results of the test would be one of
the following three possibilities:
1. Apersonhasinheritedanaltered
HDgene
2. Apersonhasinheritedanormal
HDgene
3. Rarely,thetestsresultisuninformative
Why have genetic counselling?
Geneticcounsellinggivespeoplewho
wishtohaveapredictiveHDgenetest
theopportunitytodiscusstheissues
involvedintesting,tohavetheirquestions
answered,andtoconsiderthepossible
consequencesofapredictiveHDgenetest
result.
Onceapersonstartsonthepredictive
testprogramme,apartner,closefriend
orfamilymembershouldcometothe
appointments.Atleastthreeappointments
areusuallynecessarybeforetesting.A
referraltoapsychiatristismade,tomake
surethatapersonisabletodealwithan
unfavourableresult,andalsoforfollow-up
ifnecessarywhenaresultisunfavourable.
Apersonreceivingtheirtestresult,needs
tobeaccompaniedtothatappointment.
Why are partners or close friends asked to attend?
Itisextremelyimportantthatapartner
closefriendorrelativeaccompaniesthe
individualtotheirappointments.
Theresultmayhaveimplicationsfor
membersofthefamily,thereforethey
shouldhavetheopportunitytoconsider
theimplicationsoftheresultfor
themselves.Individualsaccompanyinga
personshouldunderstandtheanxietiesthe
personmaybeexperiencing.
Can children have a predictive test for HD?
No.Usuallyonlyadultsareoffered
predictivetesting.Thisisbecausethetest
isvoluntary,andchildrenusuallycannot
understandthecomplexissuesinvolvedin
thedecisiontotakethepredictivetest.In
addition,childrencannotlegallythemselves
giveconsentforthetest.
GENETIC CLINICS
IfanypersonatriskofHDisinterestedin
findingoutmoreaboutthegeneticaspects
ofHD,oraboutthepredictivegenetic
test,theycantalktoaclinicalgeneticistor
geneticcounsellor.TheNationalCentrefor
MedicalGeneticsholdsgeneticclinicsin
Dublin,Cork,GalwayandLimerick.More
detailsareavailablefromtheNational
CentreforMedicalGenetics(014096739)
www.genetics.ieortheHDAssociation
(018721303)www.huntingtons.ie
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GENETIC COUNSELLING
Thedefinitionofgeneticcounsellingis
“the process by which patients or relatives
at risk of a disorder that may be hereditary
are advised of the consequences of the
disorder, the probability of developing
or transmitting it, and of the ways in
which this may be prevented, avoided or
ameliorated”
(P.Harper-1983).
Geneticcounsellingismainlyan
educationalprocessthatseekstohelp
thoseaffectedbyHDoratriskofHD
tounderstandthegeneticsofthe
disorder,thewayinwhichitmayhave
beeninherited,andtheoptionsthatare
availabletotheminmanagementand
furtherreoccurrence.
TALKING TO CHILDREN
Therearetwomainissuestoconsider
whentalkingtochildrenabout
Huntington’sDisease.Thefirstrelatesto
talkingtothemaboutanaffectedparent,
relativeorfriend,inordertoexplainthe
effectsoftheillness.Thesecondconcerns
thegeneticandhereditarynatureofthe
illnessandtheimplicationsforthechild.
IfsomeoneinthefamilyhasHD,itwillbe
difficulttoavoidgivingachildsomesort
ofexplanation.Smallchildrenaremore
acceptingthanadultsare,butbecome
lesssoastheygrowolderandtherefore
needtoknowthatsomeoneisactuallyill
inordertounderstandandacceptcertain
behaviour.
Childrenarealsoverysensitiveto
atmosphere,andiftheyrealisethat
somethingisnotbeingdiscussed,can
imagineallkindsofthingsasthecauseof
thefamily‘secret’.Theymayfeeltheyare
insomewaytoblameandthisanxietyand
guiltcanbemoreharmfulthanknowing
thefacts.
Ideallythetellingshouldbeagradual
sharingsothatchildrencangrowintoan
understandingmadepossiblebyparents
actingopenlyandansweringquestionsas
truthfullyaspossibleappropriatetothe
childoryoungperson’sage.Itmayhelpto
thinkaboutthetypeofquestionsthatyour
childmayaskandtohavepreparedsome
answers.
Parentsshouldbeasreassuringaspossible
withoutdenyingtherisks.Asthechild
getsolderitisimportantthattheycan
discusstheirworriesandfeelingsinan
environmentwheretheirfeelingsare
acceptedandunderstood.
Allfamiliesaredifferentsohow,and
when,maybedependentonthefamily
andtheindividualchilde.g.isitafamily
whotalksaboutthingsoverthedinner
tabletogether?Ordoesoneparent(oron
occasiongrandparent)usuallytakethelead
intalkingaboutthings?Dosomechildren
needtobetoldmoreinformationthan
others(e.g.oldersiblingsversusyounger
siblings)?
Someparentsmaybeabletofacethistask
ontheirown,butmanywillfinditdifficult
andmayneedtofindsomeonewithwhom
totalkovertheirownfeelingsandthe
needsofthechild.
11
Thiscouldbearelativeorclosefriend,
doctor,socialworker,HDAIstafforother
professional.Theimportantthingistofind
someonewithanunderstandingbothof
HDandofchildren,whowillassistyouto
workoutthebestapproach.
Moodinessandirritabilitycanmakelife
verydifficultforthecarerandchildren.
Thefirstandprobablymostdifficult
steptofaceisthetruth,thatafamily
memberisaffected.Thesecondstepis
tospeakopenlyaboutthesituation.This
won’tcomeeasilybutitisimportantto
worktowardit.Thewholefamilymust
understandwhatishappening.
Truthandhonestywithinthefamilyhelps
friendsandrelativesfeelmorecomfortable
intheirrelationshipswiththepersonwith
HDandmakesiteasiertolendmuch
neededhelpandsupport.
COPING WITH BEING AT RISK
Studiesofpeopleatriskhaveshownthat
eachindividualreactstothischallengeina
varietyofways.Eventhoughthereisjust
asgreatamathematicalchancethatthe
personwillescapethediseaseasthereis
thattheywillgetit,forsomepeoplebeing
atriskmeansaconstantstruggletomaster
theoddsandtheymaylivelivesofdread,
denial,fear,emotionaldisarrayandgloom.
Understandablyattimesthisstruggle
makestheirsituationseemmuchworse
butatothertimestheycanlivewithit.
Somepeoplerespondtotherisksituation
bytryingtoignorethedisease.Pretending
thatiteitherdoesnotexistorcouldn’t
possiblytouchthem,theypushthereality
ofthediseaseoutoftheirminds.They
donottalkaboutitnordotheyseriously
consideritwhentheycontemplate
marriageandafamily.Unfortunately,the
diseaseitselfmaynotco-operatewiththis
attitudeofdenial.Itcannotbewished
away.
Families may be helped by recognising
a five step coping process we may all
experience:
1. Denial ThepersonatrisktoHDmayrefuse
toaccepttheinformationand
says“No, it couldn’t happen to
me.”Sometimesthepersonaccepts
theinformationwell,butlatercannot
recallthedetailsofwhatwassaid.
2. Anxiety
Thepersoncansufferheadaches,
fatigue,insomniaandirritabilityasa
responsetofear.Theymaybenefit
fromemotionalsupportatthistime.
3. Anger Thepersonseeshis/hermisfortuneas
“the act of a cruel and uncaring world”
andmaybeopenlyhostiletofriends,
relativesandhealthprofessionals.
Theremaybeagreatdealofangry
behaviour.Resentmentbuildsbetween
familymembers.Counsellinghelpsto
channeltheguiltandredirecttheanger
inconstructiveways.
12
4. Depression
Thisisacriticalphase,necessaryfor
eventualreadjustment.Thepersonwill
needsupporttoacceptchanges,try
newbehavioursandplanforanew
wayoflife.
5. Stability
Thepersonatrisk“cycles”backand
forthbetweenthesefivephasesbut
withfamilyandprofessionalsupport
andreinforcement,canbehelpedto
livewiththethreatofHD.
RELATIONSHIPS
Ifyouhaveneverseenorevenheardof
HD,youmaytrytoignoretherisksand
possibleconsequences.Someofyouwill
feelsofrightenedthatyoubreakoffthe
relationshipalmostimmediatelywithout
goingfurtherintothesubject.Learning
therealfactsandweighinguptherisks
andwhattheymeantoyou,againstthe
qualityoftherelationship,istheonly
wayaproperdecisioncanbetaken.If
youunderstandtheimplicationsandcan
workoutplansforthepossibilitythatyour
partnereithermayormaynotgetHD,
thenyourrelationshipcanbehappyanda
successwhateverhappens.
Thisisanextremelycomplexareabutthe
rightofallindividualstomakedecisions,
providedtheyarewellinformed,should
berespected.Ifpeoplehavesufficient
informationitwillhelpthemtomakean
informeddecision.
Ifyouareinarelationshipwithsomeone
atrisktheymaynothavetoldyoubecause
theymayneverhave“told”themselves.
WHETHER OR NOT TO HAVE CHILDREN
ThehereditarynatureofHD,makesthe
prospectofstartingafamilyparticularly
difficult.However,manyindividuals
atrisktoHDhavealreadyestablished
familiesbeforetheylearnaboutHDor
fullyunderstandthehereditarynatureof
it.SomewhofullyunderstandHDandits
hereditaryimplicationsmaychoosetohave
theirownchildren.Othersatriskmay
decidenottohavechildrenoftheirown
inordertoavoidpassingthediseaseonto
anothergeneration.
Throughgeneticcounsellingthefull
implicationsofthegeneticcharacteristics
ofHDandreproductiveoptionsshouldbe
discussedandallthealternativesavailable
shouldbeconsidered.Inotherwords
peopleatrisktoHDshouldknowallthe
factsbeforemakingdecisionsappropriate
totheirindividualsituations.
13
PRACTICAL PROBLEMS
ROLE CHANGES
Roleswithinthefamilyarelikelyto
changeasthepersonwithHDisunableto
completealltheirprevioustasks.Carers/
partnersmayrequiresupporttoadaptto
increasedresponsibilities.
They may also need financial
assistance due to:
• Lossofincome
• Costofcare
• Childcare
• Additionalfoodandclothing
Overtimetherelationshipwillbecome
altered,andthepwHDwillbelessofa
friend,companionandlover.Thisadds
personalgrieftoacomplexsituationand
bothindividualsmayneedsupporttodeal
withthesechallenges.
Althoughworkingoutsidethehomebrings
it’sownproblemsandworriesaboutwhat
ishappeninginyourabsence,itcanalso
bearelieffromthedemandsofhomeand
infactcanhelpyoucopewiththephysical
andemotionalproblemsbecauseyouare
notsubjectedtothemallthetime.
SEXUAL AND MARITAL ISSUES
Problemsrelatedtosexualadjustment
forpeoplewithalengthyillnessareof
greatconcernbothtothepatientandthe
spouse/partner.
Theseanxietiesareoftenhidden.Even
inthemidstofthecurrentabundanceof
informationaboutsexuality,onecanfind
littleaboutsexualadjustmentinconditions
suchasHD.
Hopefullyeachpartnerwillfeelfreeto
discusstheirneedswiththeother.In
thewordsofsomeoneinthissituation-
“thoughtfulness and consideration can
work wonders”.Professionalguidance
mayalsobesoughtthroughthefamily
doctor.
FAMILY TENSIONS
Commonexperiencesofpeoplewith
neurologicalconditionsandtheirfamilies
includelackofappropriateinformation,
socialisolation,highlevelsofstress,
financialstrainandchangesinfamily
roles.ThehereditaryaspectofHDhas
implicationsfortheextendedfamily.This
cancausefurthertensionasindividuals
copeindifferentways.Someuseexercise
asameansofreducingstress,othersprefer
tokeepitprivateandthinkthingsthrough
forthemselveswhereasothersneedtotalk
tofamilyandfriends.
Somemayfindithurtfuliftheyarenot
gettingthesupporttheyexpectedfrom
otherfamilymembers.Thereisnoright
orwrongwaytocopebutithelpsifyou
knowwhatworksbestforyouandfor
yourfamilymembers.Goodpsychological
supportscanreducestressanduncertainty.
GetintouchwithHDAIortalktoyourGP
ifyouneedsupport.
14
4
STOPPING WORK
Theperson’sabilitytocontinueworking
isfrequentlyacriticalissue.Thelengthof
timesomebodycanworkwilldependon
theprogressionofthediseaseandthekind
ofjob.Itmaybedifficultfortheperson
concernedtoadmitthatheorshecanno
longerdothejob.Theymayneedsome
helptoacceptthatthereisaproblem.
Occupationswhicharepotentially
dangeroussuchaswelding,orintellectually
demandingsuchasaccountancy,mayhave
tobegivenupearlierthanothers.Some
employerscanbesympatheticandmaybe
abletoofferalternatives,thoughthismay
notbeacceptabletothepersonintermsof
incomeorstatus.
Itmaybebeneficialtoseekindependent
advicebeforemakingadecision.
Yourdoctorcouldinterveneif,forinstance,
youwereworriedabouttheperson
drivingorwheretheiractionscouldput
themselvesorothersindanger.
INCOME AND FINANCIAL MATTERS
Theemploymentofthecarerisalsoan
importantfactor.Youmayalreadyhave
beenthemainearnerinwhichcaseyou
willhavetodecidewhethertocarryonas
beforewhilebearingtheextrastressesof
organisingthehomeandbeingacarer.
Ifyouwerethesecondaryorpart-time
earnerbefore,youwillhavetothinkabout
whetheryourincomewillbesufficient
tomaintainthefamily,orhowyoucan
supplementit.Ifyouwerenotgoingout
toworkatall,youmayconsiderwhether
ajobisanoptionorwhetherfamily
demandsaretoogreat.Itisadvisable
toconsultyoursolicitoratanearlystage
intheillnesstodiscusslegalandrelated
issues,e.g.themakingofwills,palliative
careoptionsetc.
Normaloutgoingscanbesetagainst
expectedincome.Newexpensesmayhave
tobetakenintoaccount,forexample,
extrafood,extraheatingifthehouse
hasnotbeenusedinthedaytimebefore.
Somepeoplemovetoahouseorground
floorflatwhichisphysicallymorepractical
andcheapertorun,thoughthiscanbe
disruptivetoneighbourhoodsociallife.
Probablysomefinancialsacrificeswillhave
tobemade,thoughdifferentpeoplehave
differentprioritiesastowhichtheyshould
be.
OTHER WORRIES
OtherimportantworriesaboutHDexistin
relationtoinsurance,mortgagesandso
on.
Ifyouneedinformationinrelationtothese
orotherissues,contacttheHDAIoffice.
15
16
CARE OF THE PERSON WITH HUNTINGTON’S DISEASE
DIET AND NUTRITION
PeoplewithHDneedawellbalanceddiet,
whichincludesalltheessentialnutrients,
topreventorminimiseweightloss.A
higherthannormalcalorieintakeisoften
requiredtomaintainnormalbodyweight.
Maintainingahealthybodyweight
isessentialbecausepeoplewhoare
underweight(i.e.BMIoflessthan18.5)
losemusclemassandthereforefeel
weaker,becomeapatheticanddepressed,
andaremorepronetocatchinfections.
Evidencesuggeststhatprovidingahigh
calorieintakecanhelptoreducechorea
movements,improvecognitionand
improvespeech&swallowing.
• Goodnutritionalcareisessentialinthe
managementofHD
• Theindividual’sweightshouldbe
monitoredregularlyandcalorieintake
adjustedappropriately
• Earlyindividualassessmentandregular
reviewingofnutritionalcareplansare
vital
• Manyindividualshaveveryincreased
energyrequirementsanditisessential
toprovideadequatenutrients
• Nutritionalassessmentandcare
planningwillvarywiththestageof
thediseaseandtheindividual’seating
difficulties
AsHDprogresses,foodwillneedtobecut
insmallpiecesorliquidisedtofacilitate
chewingandswallowing.Theperson
shouldeatslowlyandwithoutdistractions.
Hungerandlackofhandcontrolcanlead
to“cramming”atatimewhenthepatient
canleastcopewithsuchlargeamounts.
Mealsshouldbesmallerbutmoreregular
(5-6perday)withnourishingdrinksin
between.Manyfoodsupplements,richin
proteinandcaloriesareavailable.They
canbetakenontheirownoraddedtothe
person’sfavouitefood.
EATING
Earlyreferraltoaspeechandlanguage
therapistwillhelpidentifyswallowing
difficulties.Periodicreassessmentcan
identifychangesinswallowingabilityand
suggestinterventionssuchasachangein
foodconsistency,environmentetc.Eating
aidssuchasenlargedgripsforsilverware
andnonslipplateswithraisededgesto
preventspillingmayprolongindependent
eating.PeoplewithHDshouldbe
encouragedearlyinthedisease,toeat
slowlyanddeliberately,tositinanupright
positionduringandaftermeals,totake
smallbites,andtoclearthemouthoffood
aftereachbitebytakingsipsofliquid.
Individualsshouldavoiddoingother
activities(suchastalkingorwatching
television)whileeating,inorderto
concentrateonchewingandswallowing.
Speechandlanguagetherapyhasan
importantroleinthemanagementofHD.
5
Swallowingdifficultiesaffectmost
individualsandrequiremanagement
withtimelyandeffectivetherapeutic
intervention.
TIPS FOR GOOD COMMUNICATION
• Reducedistractions
• Offerprompts
• Don’tchangetopicstooquickly-
askonequestionatatime
• Allowtimeforananswer,Giveyour
fullattention
• Keepquestionssimple-Offerchoices
(Doyouwantmilkorjuice?)
• Don’tpretendtounderstand-
Askifyouareunsure
TIPS TOWARDS AVOIDING PROBLEMS
Dentalcareisimportantasthepatient
willhavedifficultyusingdentures.
Incontinenceoccursinthelaterstagesof
HDbecausecontrolislostoverthemuscles
ofthebladderandbowels.Aregulartoilet
routine(atwohourlypattern)shouldbe
observed.Pads,protectivemattressesand
absorbentbedsheetsprovidecomfortfor
thepatientandeasestheworkloadofthe
carer.
Clothesshouldbecomfortableandeasy
towashanddry.Itemsofclothingwhich
areeasilyworn(e.g.fewbuttonsorhooks)
allowthepatientgreaterindependence.
Anyprospectivehazardsinthehouseetc.
shouldberemoved,guardsplacedinfront
offiresetc.Ensureallelectricappliances
aresafe.
Thereisavarietyofequipmentand
adaptationstothehomewhichcanoften
behelpfultopeoplewithHDsuchas
specialistseating,bedsandadaptations
tothebathroom.Fallsarecommonand
canbeasourceofsevereinjury.The
Occupationaltherapist(OT)cangiveadvice
onseatingandwalkingaidsandcan
assessthepersonathomeandarrangefor
railsandbanisterstobeputin.OTsand
Physiotherapistscaninstructpeopleinhow
tosit,standandwalkmoresafely.
ThePrimaryCareTeamcanhelpinthe
managementofchoking,infections,
chiropodyandstress.Theycanprovide
adviceoncommunication,recreation,
respitecareanddaycentres.
Ifthepersonisunwelldonotalways
assumeitisHD.Itmaybeanother
problem,e.g.digestiveorchestinfection.
ItisbesttocontacttheGP.
CARER SUPPORT
PeoplewithHDandtheircarerswilloften
needsupport.Caresupportchoicesare
dependentonindividualcircumstancesbut
canincludehomecare,daycentreservices,
respitecareandresidentialcare.Referrals
toasocialworkercanhelpinexploring
options.TalktoyourG.P.regarding
referralstotheappropriatehealthorsocial
careprofessional.
17
CaringforapersonwithHDcanbeahuge
challenge.Theprogressionofthecondition
combinedwiththechangingphysical,
cognitiveandemotionalsymptomsrequire
hugeresiliencefromcarers.Itishurtful
whenyourlovedonedirectstheiranger
atyouandhardnottotakeitpersonally.
Figuringouthowtoavoidorredirecta
person’sanger,discoveringanewway
toapproachanoldproblemorgetting
supportfromfriendsandfamilyorfrom
othersinasimilarsituationcaneasethe
burden.
Youneedtotakecareofyourself-not
onlyforyoubutforthepersonyoucare
for.Ifyouaretoodrained,tooexhausted
ortoodisillusionedyouareputtingyour
ownhealthatrisk.Taketimeouttorelax
andtorest.Trytofocusonthepresent
andyourdailyachievementsratherthan
stressingaboutafuturewhichisbeyond
ourcontrol.
HEALTH PROFESSIONALS
APrimaryCareTeam(PCT)isateamof
healthprofessionalswhoworkclosely
togethertomeettheneedsofthepeople
livinginthecommunity.Theyprovidea
singlepointofcontacttothehealthsystem
forthepersonincluding:
• GPandPracticeNurse
• CommunityNursingService-Public
HealthNurse,CommunityRegistered
Nurse
• OccupationalTherapist
• Physiotherapist
• HomeHelp/supportstaff
ThePrimaryCareTeammembersalsolink
withothercommunity-baseddisciplines
toensureallhealthandsocialneedsare
providedfor.
These include:
• SpeechandLanguageTherapy
• Dieticians
• MentalHealthServices
• Counsellor/Psychologist
• Podiatry
• Socialwork
• Dental
• OphthalmicServices
YourGPorPublicHealthNurseshould
providesupportinaccessingotherhealth
professionals.
ThePublicHealthNursecangiveadvice
andsupportonmanyaspectsofdaily
livingsuchasprovidingnursingcare(e.g.
helpwithbathing,dressing,skinandbasic
care).She/hecanadvisethefamilyon
nutrition,incontinenceorsupportreferrals
tootherprofessionals.
Occupational Therapist (O.T)
Willprovideadviceonaidstodailyliving
andcanassesswhataidsorevenstructural
alterations(e.g.homeextensions)maybe
needed.
Physiotherapist
Physiotherapycanhelpreducebalance
andco-ordinationdifficultiesandmayalso
increasemusclepowerandendurance
allowinggreaterindependenceforthe
individual.
18
Speech Therapist
Speechtherapistscanadviseonmethods
ofmaintainingcommunicationskillsand
canassessswallowing.
Mental Health Services
Seekareferraliftheindividualhas
behaviouralorpsychologicalproblems.
Social Workers
Socialworkerscanofferinformation
andadvicetohelpyougetthemost
appropriatecommunityservice.Theycan
assistwithaccommodationneedsbothfor
housingorresidentialcareandassistwith
complexwelfarerightsorlegalissues.They
cansetupandmonitorfamilysupport
servicesifyouareincrisisordifficulty.
Home Help
Homehelpsworkwithvulnerablepeople
inthecommunitywho,throughillnessor
disability,areinneedofhelpwithdayto
daytasks.Ahomehelpmightvisitfora
coupleofhoursperdaytohelpwithlight
housework,shopping,ormayprovide
morepersonalcaresuchashelpwith
dressing,bathing,etc.Youcanaccessthis
servicethroughyourPublicHealthNurse.
The Home Care Package scheme
Thisschemeprovidesenhancedhomecare
servicesforpeoplewhorequireadditional
andspecialistsupportinahomecare
setting.Theseenhancedservicesmay
includenursing,alliedtherapyservices,day
care,respitecareandadditionalhomehelp
support.
Community Welfare Officers
Communitywelfareofficersworkfor
theDepartmentofSocialProtectionbut
provideclinicsfromHSEhealthcentres.
CommunityWelfareOfficersadministerthe
SupplementaryWelfareAllowanceScheme.
Thetypesofpaymentsmadeunderthis
schemeinclude:weeklySupplementary
WelfareAllowance,RentSupplement,
MortgageInterestSupplement,Dietand
HeatingSupplements,BacktoSchool
ClothingandFootwearSchemeand
exceptionalneedspaymentsforitemssuch
asbuggies,clothing,funeralcostsetc.
OTHER SERVICES
Meals-on-Wheels
Thisisavoluntaryserviceavailableinmost
areas.Theserviceisforpeoplewhocannot
cookforthemselves.Ifaspecialdietis
requireditshouldberequested(e.g.-a
minceddietorahighcaloriediet).
ContactyourLocalHealthOfficeorpublic
healthnurseformoreinformation.
Day Centres
Manyvoluntaryorganisationshaveday
carecentres,clubsandvariousfacilities
throughoutthecountrywhichcanbe
accessedbypatientsorcarers.Askyour
CitizensInformationCentreorHealth
Centreforrelevantinformation.
19
TIPS TO COPE
CARERS WELLBEING
Caringforasickorelderlypersoncan
beveryrewardingbutitisalsovery
demandingattimes.Benefitsinclude:
knowingyouaredoingsomething
meaningful,learningtoliveinthepresent
andappreciatethesimplethingsinlife,
re-thinkingprioritiesandvalues,andan
increasedinsightintoyourownstrengths
andlimitations.Caringhowevercanbe
physically,psychologically,emotionally
andevenfinanciallydraining.Youwill
experienceacertainamountofstressbut
itisessentialtomanagestresssuccessfully
andavoidburnout.Chronicexhaustion,
significantweightgainorlossandfrequent
illnessesarephysicalsignsofhighstress
levels.Frequentcrying,frequentirritation,
feelingsofhopelessnessandinadequacy
anddifficultycontrollingonestemperare
emotionalsigns.
In order to prevent being overwhelmed
by stress you should:
• Lookafteryourownphysicalhealth:
eatnutritiouslyandgetadequate
exerciseandrest
• Taketimedailytorelaxbydoing
somethingyouenjoye.g:read
somethinguplifting,listentomusic
youenjoy,takeawalkorphonea
friendetc
• Stayconnectedtofriendsandoutside
activities
• Avoidwastingtimeandenergyon unimportantthings
• Acknowledgewhenyouneedsome helpandaskforit
• Findatleastonepersonclosetoyou whowilllistenandunderstand
• Findoutaboutrespitefacilitiesinyour area
• Takethingsonedayatatime
THE IMPORTANCE OF RATIONAL THINKING
Fearandpanicarenormalreactionstostress.
If you experience this it is important to STOP and ask yourself:
• WhatamItellingmyselftomakeme feelthisway?• DoIreallywanttodothistomyself?• DoIreallywanttostayupset?
Relax or distract
• Dosomethingphysical,walk,talk,read orlistentomusic.
Question the negative belief
• Whatistheevidenceforthis?• Isthisalwaystrue?• Hasthisbeentrueinthepast?• Whataretheoddsofthishappening?• Whatistheworstthatcouldhappen?• WhatwouldIdoifthathappened?• AmIlookingatthewholepicture?• WhatwouldIsaytoafriendinthis situation?
Worrying has no effect on solving problems, taking action does.
ContactHDAIoryourGPifyouneedsupport.
20
6
FINANCIAL SUPPORT
Entitlements And Benefits
YourlocalHealthOffice,SocialWelfare
OfficeorCitizensInformationCentrecan
provideyouwithrelevantinformationon
entitlementsandbenefits.Entitlements
mayinclude:
A Medical CardissuedbytheHSEallows
theholdertoreceivecertainhealthservices
freeofcharge.Thisisameanstested
benefitbutspecialconsiderationisgivenin
thecaseofHD.
Invalidity Pensionisapaymentfor
peoplewhoarepermanentlyincapable
ofworkbecauseofillnessorincapacity
andwhosatisfythePayRelatedSocial
Insurance(PRSI)contributionconditions.
Illness Benefitisapaymentforpeople
whocannotworkduetoillnessandwho
satisfyPRSIcontributionconditions.
Disability Allowanceisaweekly
allowancepaidtopeoplewithadisability
whoareaged16oroverandunderage
66.Youmustpassamedicalexam,a
meanstestandbehabituallyresidentin
Irelandtogettheallowance.
Carer’s Allowanceisameans-tested
paymentforcarerswholookafterpeople
inneedoffull-timecareandattention
onafulltimebasis.Ifyouareinreceipt
ofanothersocialwelfarepaymentyou
mayqualifyforareducedrateofcarer’s
allowance.
Carer’s Benefitisapaymentfor
peoplewhohavemadesocialinsurance
contributionsandwhohaverecentlyleft
theworkforcetolookaftersomebodyin
needoffull-timecareandattention.You
cangetcarer’sbenefitforatotalof2years
foreachpersonbeingcaredfor.Youmay
beeligibleforcarer’sleave.
The Respite Care Grantisanannual
paymentforfull-timecarers.Thepayment
ismaderegardlessofthecarer’smeansbut
issubjecttocertainconditions.
Domiciliary Care Allowanceisamonthly
paymentforaseverelydisabledchildwho
isunderage16andneedsfull-timecare
andattentionfarbeyondwhatisnormally
requiredbyachildofthesameage.
Mobility Allowanceisameans-tested
monthlyallowancepaidtopeoplewho
areunabletowalkandwouldbenefit
fromachangeinsurroundings.Forfurther
information,contactyourlocalofficeof
theHealthServiceExecutive.
Dietary Supplement -Anypersonwhois
receivingaSocialWelfareorHSEpayment
andwhohasbeenprescribedaspecialdiet
asaresultofaspecifiedmedicalcondition,
andwhosemeansareinsufficientto
meethis/herneeds,mayqualifyforadiet
supplementunderthesupplementary
welfareallowancescheme.
Heating Supplementisapaymentto
helppeoplewhohaveextraheatingneeds
withthecostofheatingtheirhome.For
example,peoplethatareillorhavea
disability.
21
The Bereavement Grantisasocial
insurancebenefitwhichispayable,subject
tocertainPRSIcontributionconditions.
Theobjectiveoftheschemeistoprovide
financialassistancetoalleviatefuneraland
otherpost-bereavementexpensesbyway
ofaonce-offgrantonthedeathofan
insuredperson.Theschemecoversboth
theinsuredpersonandtheirspouseand
dependentchildren.
SOURCES OF INFORMATION
TheCitizensInformationBoardprovides
information,adviceandadvocacyona
broadrangeofpublicandsocialservicesin
aneasy-to-understandway.Informationis
availablevia:
• Website:
www.citizensinformation.ie
• CitizensInformationCentres
• CitizensInformationPhoneService
0761074000.
It also funds and supports:
TheMoneyAdviceandBudgetingService
(MABS)-afreeandconfidentialservicefor
peoplewithdebtandmoneymanagement
problems.Theirservicesinclude:help
indealingwithdebtsandmakingouta
budget,examiningyourincometomake
sureyouarenotmissingoutonanyof
yourentitlementsandcontactingcreditors
onyourbehalfwithoffersofpaymentif
youarenotabletodoityourself.
Tel:0761072000.
Website:www.mabs.ie
Email:helpline@mabs.ie
TheNationalAdvocacyServiceforpeople
withdisabilities.Formoreinformationsee:
http://www.citizensinformationboard.ie/services/advocacy_services/
TheDepartmentofSocialProtection
providesinformationontherelevant
supportsandservicesprovidedbythe
Department.Thereisanationwide
networkofsocialwelfarelocalandbranch
offices.Forgeneralenquiries:Telephone
01-8748444,Emailinfo@welfare.ie
Website:www.welfare.ie
TheDepartmentofHealthhasoverall
responsibilityforthedevelopmentof
healthpolicyandfortheplanningof
healthservices.Theirwebsiteprovides
informationandlinkstotheirservices:
www.doh.ie
Informationisalsoavailablebyphone:
016354000orbywritingtoDepartment
ofHealth&Children,HawkinsHouse,
HawkinsStreet,Dublin2.
OTHER VOLUNTARY ORGANISATIONS
TheIrishWheelchairAssociationworks
with,andprovidesservicesto,peoplewith
limitedmobility.
Their services include:
AssistedLivingServices,Resource&
OutreachCentres(ROCs),Motoring
Advice,AssessmentAndTuition,Parking
Permits,Transport,WheelchairSales,
Rental&RepairandRespite&Holidays.
22
TheCarersAssociationprovidesanumber
ofservicesnationwide,tofamilyCarers,
whichareaimedathelpingtoincreasethe
qualityoflifefortheCarerandtheperson
receivingcareathome.Theirservices
include:AdvocacyandLobbying,Care
Line,HomeRespiteService,Information,
Membership,ResourceCentre,Support
GroupsandTraining.
HOW YOU CAN HELP?
Ifyouhavetime,energyandskillsto
contribute,orifyouknowofafriendor
familymemberwhohas,pleaseconsider
volunteeringforHDAI.Perhapsyou
havegovernance,financial,planningor
promotionskillstocontributetoourboard.
Allqueriesarewelcome.
Governmentfundingassistswithstaffing
andofficecostswhilefundraisinghelps
ustocoverthecostofoutreach,support
meetings,carersandyouthsupport,
publications,informationseminarsand
awareness.
Thankyoutoallourwonderfulvoluntary
fundraisersandtothosewhosupport
them.Ourmembersandfriendshave
beenremarkableinparticipatingincharity
runs/walks/cycles/dances,linedancing,
parachutejumps,schoolfundraisers,bag
packing,charityswims,coffeemornings
andsocialnights.
Youhaveadirectimpactonimprovingthe
qualityoflifeforpeoplewithHD,thoseat
risk,carersandfamilymembers.
Ifyouwouldlikeinformationonmakinga
donationorsupportingafundraiserplease
seeourwebsiteorcontacttheHDAIoffice.
DONATIONS
f100.00 provides a therapeutic day for a person with HD.
f300.00 provides counselling for someone at risk.
Youcansupportourvoluntary
fundraisersormakeadonation
onlineat:
www.huntingtons.ie
If you would like to donate by
Cheque or Postal Order:
Youcanforwardachequeor
postalordermadepayableto
The Huntington’s Disease Association of Irelandand
sendto:
HDAI, Carmichael Centre, North Brunswick Street, Dublin 7.
Or by Direct Debit to:
Huntington’s Disease Association of Ireland Account
BankofIreland,Smithfield,
Dublin7.
Account No: 54757711 Branch Code: 90-00-92
23
INFORMING OTHERS
FamilycarershavepracticaldaytodayexperienceoflookingaftersomeonewithHD.Theybecomeexpertsincaringfortheirlovedonesandknowingtheirlikesanddislikes.IfapersonwithHDisavailingofrespitecareorneedscontinuingcareremembertoupdaterelevantstaffwithappropriateinformation:
• Tipsonmanagingcommunication• Diet-foodlikesanddislikes,how much,howoften• Chokingdifficulties-usefulstrategies• Ishelprequiredwheneating• Presentemotionalstate-tipsfor managingemotionalproblems• Degreeofmobility-associatedrisks• Degreeofcognitiveimpairmentand capacity-needstimetoprocess?• DegreeofIncontinence-toiletroutine, useofaids• Sleeppattern
• Medication
Patient’s name:
Nextofkin:
Maincarer:
Information:
Communication:
Diet:
Chokingdifficulties:
Eating:
Emotions:
Mobility:
Cognition:
Toiletroutine:
Sleeppattern:
Medication:
24
sample list only
Huntington’s Disease Association of Ireland
Carmichael CentreNorth Brunswick Street
Dublin 7Tel: 01 872 1303
FreeFone: 1800 393939Email: info@huntingtons.ie
hdai@indigo.ie
www.huntingtons.ie
INFORMATION REQUEST
If you need further information on any issues mentioned in this booklet please contact:
Huntington’s Disease Association of Ireland
Carmichael CentreNorth Brunswick Street Dublin 7Tel: 01 872 1303 FreeFone: 1800 393939Email: info@huntingtons.iehdai@indigo.ie
www.huntingtons.ie
FacingHuntington’sDisease
FacingHuntington’sDiseaseA Handbook for families and friends
Huntington’s DiseaseAssociation of Ireland
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