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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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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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.

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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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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.

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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