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Irish Journal of Applied Social Studies Est Published by Social Care Ireland Volume 7 Issue 1 Summer, 2006 Article Prader Willi Syndrome: A Family Experience Emma Walker Cork Institute
Irish Journal of Applied Social Studies Est Published by Social Care Ireland Volume 7 Issue 1 Summer, 2006 Article Prader Willi Syndrome: A Family Experience Emma Walker Cork Institute of Technology, Recommended Citation Walker, Emma (2006) Prader Willi Syndrome: A Family Experience, Irish Journal of Applied Social Studies: Vol. 7: Iss. 1, Article 8. Available at: Praderw illi8ync1=n e rn rn a W ajker!lja 88 7:l 2006 Pr'1qer willi Synqrome - 'A F'1mily's Experience' Emm'1 W'1lker Dep'1rtment of Soci'1l '1nq Gener'1l Stuqies Cork Institute of Technology Em'1il: Abstr'1ct Pr'1der willi Syndrome - 'A F'1mily's Experience' Genetic rese'1rch h'1s offered, '1nd continues to offer, a medical explanation of chromosomal disorders such '1S Down Syndrome and Asberger Syndwme nd more recently the rare chromosomal disorder Pr der Willi Syndrome. This rese rch gives a pathogenic explan tion of disorders which includes historic'1l b'1ckground, genetic defects '1nd clinic'1l fe'1tures. This study set out to offer n insight into the effects of pws on the child '1nd his/her fumily. It Iso imed to highlight wh t support systems re in plqce in the Co. Louth '1re'1 of Irel'1nd for individuals with PWS. Unfortun'1tely, PWS is not cur ble t this time. Between 1995 nd 2003 there were 39 diagnosed c ses of PWS in Irel nd, '1n venge of 4.3 per ye'1r. On ver ge there re four infunts or children diagnosed in Irel'1nd with PWS per ye r. (Turner, 2004, N tional Centre for Medicql Genetics). This study is n explor tory nd descriptive cqse study. This c se study drew on multiple sources of evidence to construct '1 valid nd unique illustration of PWS. The primary source of d t W'1S derived from in-depth interviews with the p'1~ents of a 3-year-old girl who has PWS. She w s di gnosed during the third week of life. The evidence of this study suggests th t non-speci list medicql st ff re not gener'1lly fumiliar with PWS. Tr ining in rel tion to di gnostic criteri for chromosom,,1 disorders would be extremely benefici,,1 to them nd to fumilies that re ffected by the syndrome. This study highlights the need for p'1rents to be their own child's advoc'1te in obt ining desired support services in their re . Support Services in the North E'1st region h'1ve been gre tly incre sed due to the setting up of the North E'1stern He'1lth Bo rd (now known s Health Service Executive, North E'1st Region) E rly Intervention Services (EIS), in PrcrlerW illisyndn::me.w ajker;ljass 7:1 Surnm er2006 Inttoquction The~e hqs been '1 ve'y g~qquql shift in I~ish society's unqe~tqnqing o( qisqbility. This shift hqs involved the move awqy (rom the institution'll moqel o( ca~e to '1 mme holistic community basecl one. The type o( disability this wo~k is concernecl with is both physic'll qnq intellectuql. The Disqbility Datqbqse (2002) ~epo~ thqt the~e is '1 p~evqlence ~ate o( 7.38 pe~ 1,000 o( the total PoPulqtion effected by intellectuql disqbility, in 1~e1qnd. The Nqtionql Association (m People with Intellectuql Disabilities in I~elqnd NIAMHI (2001) identify five mqin Cquses o( intellectuql disqbility. They include p~enatal, perinatal and postnatql fucto~s, illness m iniu~y to the mothe~ during p~egnqncy, qnd Iqstly genetic flcto~. This piece o( wo~k is concerned with the genetic cause o( intellectual disqbility. Like Down's Syndrome, which is probably the most well known genetic syndrome, PWS is qlso cqused by chromosomal abnmmqlity - a deletion o( pa~ o( chromosome 15. PWS is defined as 'A chromosomql c/isorc/er resulting in 'I sync/tome chqrqdetisec/ by infimttle hypotom~, hypogonqc/ism qnc/ obesity.' 1 The~e is '1 dec~eqse in hypothqlqmus (unction o( the b~ain which ~esults in distu~bqnces in qppetite, satiety and the ~eleqse o( growth hmmone. This is turn leads to an insatiable qppetite (o~ (ood qnd growth deficiency. Individuqls with PWS ~equi~e 'typicqlly only 40-70% of cqlot/e intqke requitec/ by non-obese otherwise heqlthy inc/ivic/uqls'(hqu((q, 2000: 5). 1 Hypo1Drlli. webkm =l2 tone, and fbr:pine;satb:irth.hypo1drlli.:isan EEiIy andpe!sistmt feature_of the f IldIan e. n:m ainjy affects the neck in theneonatalphare. H YrXJ9Qnadisn :in m ature devel:::pn ffitofsexualolljans and,brothersexual dlalacter:istic. obesij apem:m. can redes:iit.e::l asrn oibilly ol:jffew lth abodyrnass i1dex (13M D of42-47 kg,tn 2 ascnnpam::l1d anolrnalbm Iof21-27 kgan2.lh s::rnecares thiswoulim am a perron :is double theiroptin alwe:ghtfbrtheirhe:ght Www IMS3.-ukde:n onrouknzhtm)' 2000, PW SA UK,A -Z ofpia:lerw illisyndjrm e). 115 Pra::1erW illisyndmn e;e. W ajkeriija SS 7:1 Sum m er2006 The epic\emiologicql fucts ot PWS incluc\e qn incic\ence ot 1 in every 15,000 otlive births, compqrec\ to thqt ot 1 in every 600 tor Down Sync\rome. At present there is no CUre or pre-nqtql c\iqgnosis. On qverqge 3-4 chilc\ren qre c\iqgnosec\ per yeqr with PWS in irelqnc\. The Prqc\er willi Sync\rome Associqtion ot irelqnc\, (PWSA, irelqnc\) hqve been in contqct with 64 fumilies qttectec\ by the sync\rome since their estqblishment in The olc\est known person with PWS in irelqnc\ is 39 yeqrs olc\ (source: PWSA irelqnc\). The olc\est known living person with PWS globqlly is yeqr olc\ mqn in the Unitec\ Stqtes. physicql chqrqcteristics ot PWS which qre vqriqble, incluc\e very smqll hqnc\s qnc\ teet, qlmonc\ shqpec\ eyes, clown turnec\ mouth, short stqture (c\ue to growth hormone c\ehciency), hypo pigmentqtion - 'where by chile/ren show (infer skin, hc/ir me/ eye colour tkm theifpc/rents'(hqu(fu, 2000: 4). Seconc\qry c\isorc\ers in PWS qre common. Sleeping c\isorc\ers such 215 sleep qpnoeq - (cessqtion ot breqthing c\uring sleep), which is known to be more prevqlent in obese inc\ivic\uqls with PWS, respirqtory problems (c\ue to hypothqlqmic c\ystunction), c\iqbetes mellitus -The usuc/1 cc/use of e/ic/betes 1/7 PWS is obesity' (PWSA UK) Behqviourql chqrqcteristics in PWS Vqry greqtly in the eqrly qnc\ Iqter stqges. in the eqrly neonqtql phqse ot PWS the infunt is c\esoibec\ 215 sleepy qnc\ pqssive. This is clue to the infunt being hypotonic (weqk muscle tone). The chilc\hooc\ phqse (between 2 qnc\ 3 yeqrs ot qge) is chqrqcterisec\ by the onset ot unconhollec\ hyperphqgiq (insqtiqble qppetite tor tooc\). Chilc\ren Cqn begin to exhibit behqviourql problems, with outbursts ottemper in response to twstrqtion at constqntly oqving tooc\. Support services tor pqrents at 21 chilc\ with PWS qre tunc\qmentql in mqnqging the sync\rome. Hqu(fu (2000: 11) cites qiet 215 the cornerstone at mqnqgement in 116 P:raderw illisyndrun ere. W ajker!(ja SS 7:1 Sum m er2006 PWS This is clue to m,my of the beh~viour~1 clifficulties ~ssoci~tecl with PWS stemming From the const~nt clrive For Foocl.. The multi fucetecl ~ppro~ch which involves sever~1 relev~nt he~lth profession~ls working together on p~rticul~r c~ses h~s slowly become embecle!ecl in E~rly Intervention Services in Irel~ncl. Form~1 est~blishment of such services begun in 2000 ~ncl 2001 ~ncl is still ongoing. At present there is no specific policy Or legisl~tion th~t Focuses solely on E~rly Intervention Services. However it is positecl in the wicler context of clis~bility legisl~tion. The Sh~tegy of E~u~lity (Commission on the St~tus of People with Dis~bilities, 1996) highlightecl the neecl For p~rtnership ~ncl consult~tion with people with clis~bilities. The Government He~lth Str~tegy - Qu~lity ~ncl F~irness, 2001, inhoclucecl the principle of people centree! services ~ncl sought the clevelopment of st~ncl~rcls in clis~bility services. The ~im of e~rly intervention in the context of clis~bility is to minimise the imp~irment effect of clis~bility, ensure people re~ch their potenti~1 ~ncl support fumilies. The E~rly Intervention Te~m in Co Louth w~s Form~lly est~blishecl in This te~m currently work with two chilclren with PWS, ~gecl three ~ncl Four. Di~gnostic criteri~ For PWS were publishecl in 1993 in the University of W~shington School of Meclicine, Se~ttle. Geneticists ~ncl ~lliecl meclic~1 profession~ls in Irel~ncl, Vnitecl Kingclom, C~n~cl~, Vnitecl St~tes ~ncl other countries h~ve ~cloptecl these criteri~. In brief it comprises of m~ior criteri~ such ~s neon~t~1 ~ncl infuntile hypotoni~ ~ncl minor criteri~ such ~s ch~r~cteristic beh~viour~1 problems - temper t~ntrums ~ncl tenclency to be opposition~1. A scoring system is usecl to weigh up v~rious criteri~ to clecicle on cli~gnosis. (Holm, VA etql, 1993) As st~tecl ~bove, PWS is rel~tively r~re in comp~rison with other genetic clisorclers such ~s Down's synclrome. However, m~ny of the beh~viour~1 ~ncl soci~1 117 P:raderW illisyndn::m e,e. W ath:er!ija SS 7:l Sum m er2006 chq~qcteristics of the syndwme q~e simi!q~ to thqt of othe~ diso~de~s thqt sociq[ cq~e wo~ke~ come in contqct with, such qs Autism qnd Aspe~ge~'s syndwme. At p~esent the~e is one ~esidentiq[ unit in I~e[qnd which specihcq[[y cq~es Forqdu[ts with PWS. It is situqted in Leopq~dstown, Dub[ in qnd is Funded by the Eqstem Regionq[ Heq[th Authority. It is stqifed byq Unit Leqde~, Teqm Leqde~ qnd six Cq~e qssistqnts, '1[[ of which hqve ~eceived speciq[ised trqining Fwm the UK P~qde~ willi Synd~ome Associqtion. Since its opening in 2003, th~ee people with PWS hqve tqken up ~esidence the~e. Othe~ qdu[ts with PWS in I~e[qnd ~eside in the ~mi[y home or in stqte/voluntq ~y ~un gwup homes, whe~eby othe~ ~esidents hqve '1 ~qnge of [eqming disqbi!ities. The~e is continuous debqte in the held of pws whethe~qdu[ts with PWS hqve '1 bette~ chqnce of ~eqching thei~ potentiq[ in speciq[ist PWS Cq~e o~ mixed cq~e. Methodology Mu[tip[e sou~ces of evidence we~e used in this study. Semi struct u~ed qnd in-depth inte~iews we~e Cq~ried out. Due to some heq[th p~ofessionq[s involved in the study not being qvqi!qb[e Fo~ inte~view, cor~espondence ensued viq the mediums of emqi!, telephone qnd post. P.'ltTiclP.'l17t5 The subject of this cqse study is q th~ee yeq~ old gi~1. In the inte~e st of conhdentiq[ity q pseudonym, Anne, will be used to ~efe~ to he~ thwughout this pqpe~. Both he~ mothe~ qnd ~the~ we~e the two key Pqrticipqnts in this Cqse study. They will be simply ~efe~~ed to qs F, Fo~ ~the~ qnd M, For mothe~. Othe~ Pqrticipqnts include the InFo~mqtion office~ F~om P~qde~ willi Syndwme Associqtion I~e[qnd, Pqediqtriciqn, Nqtionq[ Chi[d~en's Hospitq[, Tq[[qght, Genetics Counsellor, Nqtionq[ Genetic Centre, ou~ Lqdy's Hospitq[ For Sick Chi[d~en, C~um[in, qnd the Coordinqto~ ofeq~[y Inte~ent ion Se~vices, North Eqstem Heq[th Boq~d. 118 Pra::'lerW illisynd=n e. W ajkert'ija SS 7:1 Sum ill er2006 M:Jfet/~/5 The first interview w~s ~ semi structured in-depth one with Anne's mother ~nd futher. A twenty-five-item schedule w~s used; items such ~s time of di~gnosis, support services ~nd nnge of effects of the syndrome were explored. The second interview w~s ~ semi-structured interview with the I nform~tion officer From Pr~der Willi Syndrome Associ~tion Irel~nd. This interview h~d Four Fixed items, Form~tion of support group, referr~1 procedure, st~tistics of group ~ncl services. The third interview w~s qrried out with ~ P~edi~trici~n, N~tion~1 Children's Hospit~l, T~[[~ght. A seven-item schedule w~s used covering three ~re~s, growth hormone tre~tment, current sleep stud ies with PWS, ~nd current ~nd oncoming tre~tment For individu~ls with PWS. Second~ry d~t~ w~s sourcd From ~ Genetics Counsellor, N~tion~1 Genetic Centre, Our L~dy 's Hospit~1 For Sick Children, Crumlin. A Ave item questionn~ire w~s used covering two ~re~s, genetic counselling ~nd epidemiology of pws. Second~ry d~t~ w~s ~Iso sourced From Coordin~tor of E~rly Intervention Services, North E~stem H e~ lth Bo~rd HSE, North E~st Region. A nine-item questionnqire w~s used covering three ~re~s, Form~tion of Service, st~tistics of PWS service users, ~nd services provided. Procedure Initi~1 permission w~s sought For interviewing ~nd ~udio recording by telephone For the first ~nd second interviews. This w~s Followed by letters of confirm~tion in November A phone interview w~s qrried out with the Respir~tory P~edi~trici~n, N ltion ll Children's Hospit ll, on 3 Febru lry 2004, due to her un~v~ii~bility there llter. InForm ltion W lS sought From the Genetics Counsellor, N ltion ll Genetic Centre lnd From the Coordin ltor of E lrly Intervention Services vi l telephone, em lil lnd in writing. A S~nyo T llk book VAS w~s used to ludio record the First lnd second interviews. 119 P:raderW illisyndran e. W ajker;1ja SS 7:l Sum rn er2006 Ethics A key ethicq[ consiqe~qtion of this stuqy WqS conhqentiq [ity of the ~mi[y concemeq. The ~mily we~e consu[teq p~ i o ~ to the inte~v i ew i ng pwcequ~e qbout how the ~eseq~che~ wou[q ensu~e conhqentiqlity. The pq~ents we~e qeb~iefeq qfte~ i nte~view. They we~e info~meq thqt '1[[ hqnsc~ipts, informqtion given by them wil[ be kept secu~e[y until ~eseq~ch hqs been comp[eteq qnq thqt it will be qiscq~qecl the~eqfte~. Anothe~ ethicq[ concem WqS the possibility of sensitive issues being ~q i secl in inte~ i ew with the ~mily. An dfon WqS mqqe to WO~q questions in qn objective qnq open ~sh i on, e.g. when qttempting to gq in qn insight into whethe~ the Anne hqq chq [[enging behqv i ou~ in ~e[qtion to Fooq, pq ~ents we~e qskeq ' Does Anne helve qny pqrticu/qr {/Jfficu/tfes In re/ejffon to wej!)tfng fooe/i' Resu[ts qnq Discussion whqt is p~esentecl he~e in eqch section is bhef ~esu[ts qnq qiscussion on some of the key Hnqings of this cqse stuqy. The themes se[ecteq Fo~ qiscussion we~e p~om i nent issues thqt p~esenteq quhng the co~e inte~iew with Anne's mothe~ qnq ~the~. Diqgnosis With the inception of qiqgnostic crite~iq For PWS in 1993 the synq~ome is increqsing[y being qetecteq qnq qiqgnoseq in in~ncy qnq chilqhooq. Anne WqS qiqgnosecl qming he~ thi~q week of life in ou~ Lqqy's Hospitq[ Fo~ Sick Chilq~en in C~um[ i n, Dub[in. The Focus of the theme of qiqgnosis he~e is the effect of this time on the pq ~ ents. Both pq~ents we~e qskeq simu [tqneous[y of thei~ expe~iences qt the time of Anne's qiqgnosis. Anne's mothe~, M, stqteq 120 P:t:a:ler:-w illisynd1l:xn e. W ajker:-/da SS 7:l Summ er:-2006 'The nmses were so nice; we were t lught how to use I speci l[ bottle to (eed Anne, I H lberm lnn bottle'. Anne's ( lther F commented -'(rom I medic'll point o( view, the support W lS fine, h ld we been suicid l[, not th lt we were, but... M - 'Yes, we've I[w lYs thought th lt... (or ex lmp[e the w ly we were told lbout the di lgnosis... Dr. _ brought us down to his room, there W lS I nurse sitting behind us, he put the two o( us down on I se lt. He g lve us the di lgnosis lnd then h;:mded us I [o ld o( stuff From the Internet. F - He didn't know lnything lbout it' (Pr lder Wil[i Syndrome). H lu(fu v l[id ltes Anne's p lrents comments by stressing th lt ' 1[[ members o( the immedi lte (qmi[y recjuire support lnd counselling' (H lu(( I, 2000: 12). The key finding o( this theme is th lt med ic'll st l(( m ly not h lve previous knowledge o( PWS prior to I c lse [ike Anne's. This wil[ inevit lb[y effect how they deliver in(orm ltion lnd support p lrents It this time. 2 Genetic Counselling Genetic counselling is gener l[[y provided (or {qmilies when development l[ lnd/or physic l[ problems such IS Down's Syndrome lnd PWS Ire detected (o[lowing the birth 0( 1 child. It is I[so used when I di lgnosis o( I heredit lry dise lse such IS cystic fibrosis or Huntington's dise lse is m lde. Turner, Genetics Counsellor, 2003 st ltes: genetic counselling is now i st indqrd pr icfice, for p irents, who h ive recently received i dt ignosis of iny genetic disorder. We ire h ippy to see /i;mdies If they wish ind for their chddren to be seen ig iin by i clinic il geneticist. 3The AmeriC'ln Society o( Hum ln Genetics (1975) defines genetic counselling IS: :An educ ition i1 counselltng process for individu ils ind /i;mdies who h ive i genetic dise ise or who ire it risk for such i dise ise. Cenetic counselling is designed to provide p itients ind their /i;mdies with InfOrm ition ibout their condition ind help them m ike InfOrmed decisions. '4 2 Hauffu.,DrB., (2000) PraderW illisyncln:xne, A Clitll::aloverv:iEw,Col.voodHEBllhwornUK. 3 Tumer, J, G metn; C o\.ll1.92lbr, N ati: nalg meo::: C mue, C rum lin, an ailoo=ndenoe, 8 N ovan ber m eili::inmet=n er:ican Soc:iely of Hum an G metn;,d efin:itdns, 2001 IA o:::eel3':d 16 FEiJll!alY 2004 J. 121 P:raderW illisynd=n e,e. W a1k:er;1ja SS 7:l Sum m er2006 Feelings of guilt c~n often be ~ssoci~ted with p~rents of children with genetic conditions like PWS. Questions like, Why our /i;mdy! Wh'lt dic/ I do to C'luse this! WIll it h'lppen 'lg'lin! c~n ~rise For p~rents. Anne's mother st~ted e~rly in the interview' I just dic/n't w'lnt to believe this could be genetic~ L~tson (1995) writes: 'Intern'll stress /i;do/ s come f!.om within the kldivic/u'l!. the first thought 15 Wh'lt dic/ I do wrong! TherefOre, p'lrents must le'lrn how to develop re'lltstic exped'ltions 'lnd how to recognize neg'ltive se/~t'llk~ 5 Anne's p~rents did not receive genetic counselling. They were scheduled to meet with ~ genetics counsellor in Crumlin hospit~1 shorl:ly ~Fter di~gnosis but were not cont~cted reg~rding this. Anne's mother seemed to h~ve ~ very cle~r recollection of this time. She expressed the relief she h~d Felt when their locql H e~lth Bo~rd services NEHB (now HSE Norl:h E~st Region) were put inpl~ce ~t this time. This included e~rly intervention services, physiother~py ~nd speech ther~py. The key Anding of this theme of genetic counsell ing is th~t ~Ithough this service is now deemed st~nd~rd pr~ctice ~Fter di~gnosis in Irel~nd, it m~y not ~Iw~ys be provided. This emph~sises th~t the p~rent's of ~ child with PWS need to be strong ~dvoc~tes For their child in rel~tion to ~ccessing services they ~re entitled too. E~rly Intervention Supporl: Services The key concept of e~rly intervention is to intervene e~rly enough to m~ke progr~mmes implemented, into ~ w~y of life For the child. There is prevent~tive work ~s well ~s ther~peutic work c~rried out. Ann Hynes, Co-ordin~tor of E~rly 5 LaiIDn, SR., 0.995) PrevEnting PanntBumOut: M oclel ibr Tfficrung EflEct:iYeCop:ing StratEgie31D PanntsofChillIm w ilh Lffilll:ing D hili:ij:itie3, LEEIILing D :isab:ij:itie3a S3:lCi3.tiJn of Am er:ica. 0 nj:ine. A VailibE fu::m ht!p:/lnww.tlonlinemg/ll :indwthbaimtingblevffifuumouthtm 1 kacxes9al.ll J3n 2004] 122 Praderw illisyndn:m ere. W alker;1ja SS 7:1 Sum m er2006 Intetvention Setvices in the HSE North E~st Region expl~inecl the m~ke up otthei~ EIS te~m ~ncl the process involvecl in wmking with chilcl~en with clis~bilities: 'The tecim consists of myself the Coorc/iflCltot; two physiothercipists, CI socl ;j1 worket; CI speech Clnc/ ICinguCige therclpis( Cln ec/uccitioncii psychologis( Clnc/ CI nurse/counsellor. At present we Clre ClwCliting the Clppointment ofcln occupcltioncii thercipist. After Clssessment the chilc/ will receive the services thclt hclve been Ii:/entifiec/ bclsec/ on our resources. We will Cliso rekr chilc/ren to other services such CiS Cluc/iology, c/entci/ vision within the North ECistem HeCilth BOCirc/ (now known ~s the HSE North E'lst Region) Clnc/ mcly Cliso rekr to other services outsli:/e the NEHB such CIS the kec/ing clinic In Temple Street HospitCiI ' Anne is one ot two chilcl~en with PWS th~t the North E'lst Setvice is cu~~ently wo~king with. Since the e~~ly intetvention setvice is m~cle up ot ~ te lm ot people, both p'l~ents in this c'lse stucly we~e 'lskecl 'lbout who they cont'lct etc with '1uehes. Both p'l~ents ~esponclecl. M /nitl ;j11y it WClS the nurse, then it WClS the physiotherclpis( Clny questions / hclc/ lor the others woulc/ go through her F Bu( we sttll hclc/ to Clsk CI lot of questions.. Inlb ;J11y it WClS Clil very c/ls;dlntec/... / think our contcid with the HeCilth BOCirc/ WClS hclphclzclrc/ unttl the physlotherciplst beccime our point ofcontcid. This theme highlights the v~lue ot'l multi clisciplin~~y ~ppro~ch to tre'ltment ot P
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