Gomez 1 Lisa Marie Gomez December 9, 2013 ENG 102 Professor Mary Petty Huntington Disease Leanne gre

u! "a#ing no orries in t"e or$% unti$ one %ay "er mom !asse% a ay from a %isease t"at "as no cure& 's Leanne gre o$%er s"e $earne% t"at t"e %isease "er mot"er !asse% a ay from is ca$$e% Huntington(s %isease& Leanne starte% rea%ing information on t"is %isease& Leanne t"en gets "er se$f teste% an% fin%s out t"at s"e as e$$ "as t"is "orrib$e %isease& No Leanne is in "er mi% t"irties s"e is marrie% an% "as t"ree beautifu$ c"i$%ren& )"e is no starting to s"o sym!toms of t"is "orrib$e %isease an% is becoming orrie% about e#en $i#ing to atc" "er c"i$%ren gro u!& *"is %isease is one t"at is not ta$+e% about as muc" an% many %on(t e#en +no t"ey "a#e it unti$ t"ey are o$%er& Li#ing it" Huntington(s %isease is #ery %ifficu$t& )ince t"ere are no current cures t"ere "as been se#era$ stu%ies an% researc" %one& *"is "as a$$o e% "o!e an% !ro#i%es a "an%fu$ o!tions to "e$! one $i#e an% co!e it" t"is %isease& Huntington(s %isease is a %isor%er t"at is !asse% %o n t"roug" fami$y& ,t affects t"e ner#e ce$$s an% certain !arts of t"e brain "ic" t"en causes t"e brain to %egenerate& Huntington %isease is cause% by a genetic %efect on t"e c"romosome -& *"is %efect t"en causes !art of DN', ca$$e% .'G to re!eat& *"ere are t o %ifferent ty!es of Huntington(s %isease& *"e first ty!e is t"e most common/ it is +no n as a%u$t0onset Huntington(s %isease& *"e secon% ty!e is +no n as ear$y0onset Huntington(s %isease& '%u$t0onset

Gomez 2 usua$$y %e#e$o!s sym!toms at t"e age of 300-0 "ere as ear$y0onset begins in ear$y c"i$%"oo%& *"ere are many sym!toms t"at you may e1!erience if you are %iagnose% it" Huntington(s %isease& *"e first ty!es of c"anges you may e1!erience are be"a#iora$& 2"at you may e1!erience is moo%iness, "a$$ucinations, rest$essness, !aranoia an% !syc"osis& *"e ne1t ty!e of sym!toms you may e1!erience is abnorma$ mo#ements& )ome e1am!$es of t"ese mo#ements ou$% be facia$ mo#ements, "ea% turning to s"ift eye !osition, an% 3uic+ su%%en 4er+ing mo#ements of t"e arms, $egs, an% face& Dementia i$$ a$so occur an% s$o $y !rogress& 5ou may notice %isorientation, $oss of 4u%gment, $oss of memory an% s!eec" c"anges& ' %octor cou$% !erform mu$ti!$e tests to try to %iagnose someone it" Huntington(s %isease& )ome tests t"e %octor may !erform are "ea% .* scans, "ea% M6, scans, an% genetic tests& 7ecause Huntington(s %isease "as many sym!toms it is common$y mis%iagnose%& *"ere as a 4ourna$ artic$e ritten by Lefauc"eur, 6omain& *"is artic$e ta$+s about an 83 year o$% oman "o as mis%iagnose%& Doctors "a% %one mu$ti!$e tests in t"e !ast an% not one %octor ran a genetic test on t"e oman& 9nce t"ey ran a genetic test t"e %octors t"en rea$ize% t"at s"e "a% Huntington(s %isease& *"is 4ust goes to s"o t"at not a$$ t"e test(s i$$ te$$ you t"at you "a#e Huntington(s %isease unti$ you "a#e a genetic test %one& )ince t"is %isease is !asse% %o n by fami$y an% genes, t"ere is a !ossibi$ity t"at c"i$%ren can be %iagnose% it" Huntington:s %isease $ater in $ife& ;Eac" c"i$% of an aff$icte% !arent "as <0= c"ance of in"eriting t"e %isease&> ?)ti!e, @eanA *"ere is a ay t"at omen can %etect "et"er t"eir unborn c"i$% i$$ be born it" t"is %isease& ' sim!$e

Gomez 3 !renata$ screening i$$ te$$ t"e mot"er if "er c"i$% cou$% "a#e Huntington(s %isease at a $ater age& 2it" t"is +no $e%ge mot"ers "a#e a %ecision to ma+e "et"er or not to abort t"e !regnancy or carry to fu$$ term& ;B Cse$ecti#e abortion( for HD ?Huntington(s %iseaseA an% "at "e ca$$s Ct"e !arenta$ %esire to a#oi% bringing suffering into t"is or$%(B> ?Post, )te!"en G&A 7eing ab$e to %etect if t"e c"i$% can "a#e Huntington:s %isease before t"e baby is born is goo% but can a$so cause ot"er issues& *"ere "a#e been many stu%ies %one aroun% Huntington(s %isease& Peo!$e are becoming more curious about Huntington(s %isease an% are %oing more c$inica$ researc" an% stu%ies& 9ne stu%y t"at as %one in )erbia $aste% 22 years it consiste% of men an% omen "o ere %iagnose% it" Huntington(s %isease& *"e goa$ of t"is stu%y as to see "at t"e sur#i#a$ rate of t"e %isease is in bot" t"e men an% omen& 's a resu$t, ;Hig"er sur#i#a$ !robabi$ities ere registere% in fema$e !atients as e$$ as in t"ose it" o$%er age onset an% $o er number of .'G re!eat $engt"&> ?Pe+mezo#ic, *at4anaA ' fe ot"er stu%ies t"at "a#e been %one ere inter#ie sty$e& 9ne of t"ese inter#ie sty$e stu%ies consiste% of 1- !eo!$e an% t"e stu%y as to e#a$uate t"e %ifferent co!ing stages one as e1!eriencing& *"ere ere t"ree t"emes unco#ere%/ !rimary contro$ co!ing, secon%ary contro$ co!ing an% socia$ com!arison& ,n !rimary contro$ t"ey ou$% get teste% for HD an% try to use so$utions t"at ou$% "e$! suc" as !ro!er %ieting& *"e secon%ary contro$ ou$% be trusting in science an% see+ing "e$! an% su!!ort from ot"ers an% acce!ting t"e fact t"ey "a#e HD& 2it" socia$ com!arison t"ey com!are% t"em se$#es to ot"ers t"at maybe suffering of t"e same t"ing& ;,t is not meant to suggest t"at t"ese are t"e on$y co!ing strategies a#ai$ab$e to !eo!$e $i#ing at ris+ for, or it", HD& 6at"er, t"ese ere t"e centra$ t"emes t"at

Gomez emerge% in t"e current stu%y& Lazarus an% Do$+man ?198-A suggeste% t"ere as no sing$e res!onse to a stressorE!eo!$e i$$ usua$$y try se#era$ a$ternati#es, an% outcomes i$$ be fe% bac+ to a$ter "ic" ot"er co!ing res!onses mig"t be ma%e& *"e current resu$ts i$$ustrate t"is e$$& No !artici!ant re$ie% on one, an% on$y one, co!ing res!onse& 6at"er, se#era$ co!ing strategies ere em!$oye% as t"e sa$ience of genetic ris+ a1e% an% ane% o#er t"e $ife course&> ?Etc"egary, Ho$$yA 'not"er stu%y t"at as %one as to ca$cu$ate t"e morta$ity rates of fami$ies t"at ere %iagnose% it" Huntington(s %isease& *"e stu%y as %one on 10 fami$ies t"at "a#e a "istory of Huntington %isease& *"ey starte% t"e stu%ies on fami$y members ages 20 an% o$%er& *"is stu%y s"o e% t"at t"e im!act of t"e %isease is rising& *"e stu%y a$so re#ea$e% t"at men "a#e fi#e !ercent c"ance of $i#ing $onger t"an omen t"at "a#e Huntington %isease& *"is %isease a$so re#ea$e%, ;*"e morta$ity rate for an in%i#i%ua$ as s$ig"t$y "ig"er if t"e HD gene as transmitte% t"roug" t"e fat"er, but t"is as not true for a$$ fami$ies> ?Hi$$e, E$ysFeA )ince t"ere is no rea$ cure for Huntington(s %isease t"ere are many ot"er treatment o!tions to "e$! s$o %o n t"e sym!toms& )ome of t"e me%ications gi#en can #ary %e!en%ing on t"e sym!tom one may be e1!eriencing& )ome me%ications common$y use% is %o!amine "ic" "e$!s re%uce abnorma$ be"a#iors, amanta%ine an% tetrabenazine "ic" are use% to try to contro$ e1tra mo#ements& *"e use of !"ysica$ t"era!y, s!eec" t"era!y, occu!ationa$ t"era!y, an% !syc"ot"era!y are too$s t"at one can a$so use to "e$! $i#e it" t"is %isease& E#en t"oug" t"ere are treatment o!tions to "e$! s$o %o n t"is %isease, it sti$$ %oes not c"ange t"e ay one may fee$& )ince many s"o sym!toms of t"is %isease at a

Gomez < $ater age it causes ot"er stresses an% orries one may "a#e& ' stu%y as %one to 31 !eo!$e "o ere $i#ing it" %ifferent stages of Huntington(s %isease an% "at t"ey %i% as inter#ie e% t"ese !eo!$e& *"ey con%ucte% t"ey se!arate% %iscussions into t"emes suc" as !"ysica$G functiona$, emotion, socia$, se$f an% Lega$& Dor eac" stage of t"e %isease t"e !eo!$e being inter#ie e% "a% %ifferent orries& ;P"ysica$ acti#ities an% functiona$ abi$ity ?i&e& %ifficu$ty in s$ee!ing e$$, s a$$o ing foo% an% %rin+, an% e1!eriencing t itc"es an% 4er+sA, .ogniti#e issues ?e&g& %ifficu$ty in concentrating, organizing, %eci%ing, s$o er in getting t"ings %one, an% !articu$ar$y %ifficu$ty in remembering e#ery%ay informationA, Emotiona$ issues?$o moo%, $o moti#ation, an% !articu$ar$y an1iety about t"e emergence of signs an% sym!toms associate% it" HDA ere fre3uent$y re!orte%& )ocia$ ?com!$icate% fami$y re$ations"i!s in t"e conte1t of HD, $ac+ of su!!ort an% a areness of HD from t"ose aroun% t"em, as e$$ as concerns regar%ing going out to socia$izeA an% )e$f ?fu$fi$$ing !ersona$ is"es an% c"anges in se$f0confi%enceA t"emes a$so a!!eare%&> ?Ho, '& H&,A '$t"oug" $i#ing it" Huntington:s %isease is #ery %ifficu$t an% can cause stress, t"ere are many o!tions to "e$! one $i#e an% co!e& *"ere are many stu%ies t"at "a#e been com!$ete%& 2it" t"e gro t" of tec"no$ogy an% me%icine it is sti$$ $ea%ing to more stu%ies an% "o!efu$$y one %ay a cure to sto! t"is %isease& 2e 4ust nee% to %o our !art an% raise a areness to "e$! teac" ot"ers about t"is %isease an% raise money so t"at researc"ers can continue %oing stu%ies to fin% a cure&

Gomez L 2or+s cite% Etc"egary, Ho$$y& I.o!ing 2it" Genetic 6is+J Li#ing 2it" Huntington Disease ?HDA&I Current Psychology 28&- ?2009AJ 28-0301& Academic Search Premier& 2eb& 2< No#& 2013& Hi$$e, E$ysFe *& M&, )abine )ies$ing, Maria Kegter0#an Der K$is, @an P& Kan%enbrouc+e, 6aymun% '& .& 6oos, an% Drits 6& 6osen%aa$& I* o .enturies of Morta$ity in *en Large Dami$ies it" Huntington DiseaseJ ' 6ising ,m!act of Gene .arriers"i!&I Epidemiology 10&L ?1999AJ M0L010& JSTOR& 2eb& 2< No#& 2013& "tt!JGG &4stor&orgGstab$eG3M03<11

Ho, '& H&, an% M& 7& Hocaog$u& I,m!act 9f Huntington:s 'cross *"e Entire Disease )!ectrumJ *"e P"ases 'n% )tages 9f Disease Drom *"e Patient Pers!ecti#e&I Clinical Genetics 80&3 ?2011AJ 23<0239& Academic Search Premier& 2eb& 22 No#& 2013& Lefauc"eur, 6omain, et a$& I."orea ,n 'n 8305ear09$% 2omanJ Don:t Dorget Huntington:s Disease&I Journal Of The American Geriatrics Society L0&< ?2012AJ 983098-& Academic Search Premier& 2eb& 2< No#& 2013& Pe+mezo#ic, *at4ana, Marina )#ete$, @e$ena Maric, ,rena Du4mo#ic07asuros+i, Natasa Dragase#ic, Mi$ica Hec+are#ic, )tan+a 6omac, an% K$a%imir )& Hostic& I)ur#i#a$ of Huntington:s Disease Patients in )erbiaJ Longer )ur#i#a$ in Dema$e Patients&I European Journal of Epidemiology 22&8 ?200MAJ <2302L& JSTOR& 2eb& 23 No#& 2013& "tt!JGG &4stor&orgGstab$eG2M82280< &

Post, )te!"en G& IHuntington:s DiseaseJ Prenata$ )creening for Late 9nset Disease&I Journal of Medical Ethics 18&2 ?1992AJ M<0M8& JSTOR& 2eb& 2< No#&

Gomez M 2013& "tt!JGG &4stor&orgGstab$eG2MM1M1<8 &

)ti!e @ean, Dort"y 2"ite, an% E$eanor Kan 'rs%a$e& IHuntington:s Disease&I Huntington s !isease M9&8 ?19M9AJ 1-280-33& JSTOR& 2eb& 2 Dec& 2013& "tt!JGG &4stor&orgGstab$eG3-2-L18