Ngaba umntwana wakho unazo ezi mpawu? Masithethe ngeSifo saseCanavan

Ngaba unawo amathandabuzo okanye uloyiko malunga nokukhula komntwana wakho? Ngamanye amaxesha, xa iintsana zethu ziziphatha ngendlela eyahlukileyo kunezinye iintsana, okanye xa ukukhula kwazo kulibaziseka, sizibuza ngezinto ezahlukeneyo. Kubaluleke kakhulu ukuqaphela ngamaxesha anje. Namhlanje, siza kuthetha ngesifo esingaqhelekanga, kodwa esinzulu semfuza. Esi sibizwa ngokuba yiCanavan Disease.

Yintoni iCanavan Disease? Ngamafutshane...

Isifo iCanavan sisifo esingaqhelekanga kakhulu esibangelwa yimfuza . Sichaphazela ngqo ingqondo yethu. Ngokuchanekileyo, sisifo esibangela ukuwohloka kwemithambo-luvo. Oko kukuthi, ngokuhamba kwexesha, iingxaki zengqondo ziyanda kancinci kancinci kwaye zibe nzima ngakumbi. Cinga nje, ingqondo yethu ifuna iikhemikhali ezithile ezibalulekileyo ukuze isebenze kakuhle, akunjalo? Kaloku, xa esi sifo sikhula, ingqondo iyasilela kwikhemikhali ebalulekileyo. Ngenxa yoko, ingqondo iba njengesiponji kancinci kancinci, njengephepha. Emva koko ingqondo ayikwazi ukwenza umsebenzi wayo ngokufanelekileyo.

Isifo saseCanavan sikwiqela lezifo ezibizwa ngokuba yi-"leukodystrophies." Ezi zizifo ezingaqhelekanga kakhulu, ezifuzekileyo. Zichaphazela ingqondo yethu, umqolo (oko kukuthi, imithambo-luvo engaphakathi komqolo), kunye neminye imithambo-luvo. Into ebuhlungu kukuba, ezi mpawu ziya ziba mandundu ngokuhamba kwexesha.

Ziziphi iintlobo eziphambili zeSifo saseCanavan?

Esi sifo saseCanavan singabonwa kwiindidi ezimbini eziphambili. Oko kukuthi, sahlulwe ngokwexesha lokuqalisa kwaso kunye nobunzima baso.

1. Isifo seentsana zaseCanavan:

Olu lolona hlobo luxhaphakileyo , kwaye lukwalona lunzima kakhulu . Uninzi lweentsana ezinesifo saseCanavan zinolu hlobo. Okubuhlungu kukuba, iintsana ezizalwa zinesi sifo zihlala zifa ebuntwaneni okanye zisebancinci.

2. Isifo seCanavan yoLutsha:

Olu hlobo aluxhaphakanga kangako kwaye alubi kakhulu kunolo lwangaphambili. Iimpawu azibi kakhulu. Eyona nto ingcono kukuba olu hlobo alubonakali lunciphisa ixesha lokuphila komntu.

Ngubani osengozini enkulu yokufumana isifo iCanavan Disease?

Enyanisweni, isifo saseCanavan sinokuchaphazela nabani na . Sisifo semfuza. Nangona kunjalo, sixhaphake kakhulu kumaqela athile eentlanga. Ngokukodwa, sixhaphake kakhulu kumaJuda aseAshkenazi, avela kwiindawo ezifana nempuma yePoland, iLithuania, kunye nentshona yeRashiya. Phakathi kwabo, kuqikelelwa ukuba umntwana omnye kwi-6,400 ukuya kwi-13,500 ozelweyo uchatshazelwa sesi sifo.

Kodwa eyona nto ibalulekileyo ekufuneka uyikhumbule kukuba ekubeni esi sisifo semfuza, ukuba bobabini abazali bane-gene ebangela esi sifo, umntwana walo naluphi na uhlanga, naliphi na ilizwe, unokufumana esi sifo.

Kutheni iCanavan Disease isenzeka? Yintoni unobangela?

Ngamafutshane, isifo saseCanavan sisifo esidluliselwa kwilifa . Oko kukuthi, sidluliselwa kubazali ukuya ebantwaneni.

Isizathu esiphambili soku kukuguquka kwenye yezakhi zofuzo zethu. Le jini ivelisa i-enzyme ebizwa ngokuba yi-aspartoacylase (ASPA) . Cinga ngale enzyme ye-ASPA njengomsebenzi okhethekileyo engqondweni yethu. Umsebenzi wayo kukuqhekeza ikhemikhali ebizwa ngokuba yi-N-acetyl-aspartate (NAA) . Le khemikhali ifumaneka engqondweni.

Ngoku, kumntu onesifo saseCanavan, umzimba awuvelisi ngokwaneleyo le enzyme ye-'ASPA'. Kwenzeka ntoni ke ngoko? Loo khemikhali ethi 'NAA' iqala ukuqokelelana kwizicubu zobuchopho. Ifana nenkunkuma evela kumzi-mveliso. Xa i-'NAA' iqokelelana ngolu hlobo, yonakalisa umaleko wamafutha obizwa ngokuba yi-'myelin' ofana nesigqubuthelo esikhuselayo esijikeleze imithambo-luvo ebuchotsheni bethu nakwintambo yomqolo. Le myelin ifana neplastiki ejikeleze ucingo lombane, inceda imiyalezo yemithambo-luvo ukuba ihambe kakuhle, kwaye iyondla imithambo-luvo.

Ngoko ke, xa le myelin yonakele, ngokuhamba kwexesha ingqondo iba yi-sponge kwaye ibe liquefies . Oko kukuthi, kukho izithuba ezininzi ezincinci ngaphakathi kwengqondo ezizaliswe lulwelo. Kwaye ingqondo ayikwazi ukuthumela okanye ukufumana imiyalezo yemithambo-luvo ngokufanelekileyo. Uyaqonda ukuba oku kwenzeka njani?

Zithini iimpawu zeSifo iCanavan? Sifunyaniswa njani?

Isifo seCanavan yosana sidla ngokuqala ukubonisa iimpawu phakathi kweenyanga ezi-3 nezi-6 ubudala . Ezi mpawu azibonakali ngequbuliso, kodwa zibonakala kancinci kancinci. Njengabazali, kufuneka nikwazi oku.

Iimpawu eziphambili ezibonakalayo zezi:

• Ukungaqheleki kwemisipha: Oku kuthetha ukuba ngamanye amaxesha umzimba womntwana unokuba mkhulu kakhulu okanye uqine ngokungaqhelekanga . Ngokukodwa, amandla emisipha ayancitshiswa. Ngamanye amaxesha, umntwana unokuziva "njengelaphu elikrazukileyo" xa uliphakamisa.
• Intloko enkulu ngokungaqhelekanga (i-macrocephaly): Intloko yomntwana iba nkulu ngokungaqhelekanga ngokweminyaka yakhe. Kwakhona, umntwana unobunzima bokulawula intloko yakhe ngokufanelekileyo. Akakwazi ukubamba intamo yakhe ngokufanelekileyo.
• Ukulibaziseka kokukhula: Olu luphawu lokuqala olubonwa ngabazali abaninzi. Basenokungakwazi ukwenza izinto ezenziwa ngabanye abantwana, njengokuqengqeleka , ukuhlala, ukukhasa, ukuhamba, nokuthetha.Aba bantwana banokwenza izinto emva kwexesha kakhulu, okanye basenokungazenzi ezinye izinto kwaphela. Umzekelo, ngelixa abanye abantwana bezama ukuhlala phantsi kwiinyanga ezi-6-7, aba bantwana basenokungakwazi ukukwenza.
• Ubunzima bokutya nokuginya: Umntwana usenokuba nobunzima bokusela ubisi nokuginya ukutya. Usenokuziva ngathi uhlala ekrwitshwa.
• Ukunqongophala kwezakhono zokunyakaza: Amandla okulawula iintshukumo zomzimba ayancitshiswa. Ngokukodwa, ukungakwazi ukulawula amalungu ngokufanelekileyo. Oku ngamanye amaxesha kubizwa ngokuba yi- "floppiness," oko kuthetha ukuba umzimba uziva ubuthathaka.
• Ukuziphatha okuthuleyo nokungaphenduliyo: Usana luthule kakhulu. Nokuba umnika ithoyizi, akanamdla kuyo. Akabonisi mvakalelo okanye umdla . Akancumi kakhulu, akakhali kakhulu, okanye uhlala enjalo.

Abantwana abaninzi abanezi mpawu baya besiba mandundu ngokukhawuleza . Xa beneminyaka eli-10 ubudala, iingxaki ezisongela ubomi zinokuvela. Ukongeza, ezinye iingxaki zinokwenzeka xa benesifo esinjalo.

• Ukulahlekelwa kukuva
• Ukukhubazeka kwengqondo
• Ukuqaqamba kwemisipha
• Ingxaki yokuginya iyanda
• Ukulahleka kombono

Nangona kunjalo, abo banesifo seCanavan solutsha esikhankanyiweyo ngaphambili, esibonakala besebancinci, ababonisi zimpawu zinzima kangako. Basenokuba nokulibaziseka okuncinci kokukhula. Basenokuba nobunzima bokuthetha, okanye basenokuba semva kancinci kwabanye abantwana emsebenzini wesikolo. Nangona kunjalo, iimpawu azikho nkulu kangako.

Ungazi njani ngokuqinisekileyo ukuba unesifo saseCanavan?

Ukuba ugqirha wakho urhanela ukuba isifo saseCanavan sibangelwa ziimpawu zomntwana wakho, angenza iimvavanyo ezininzi ukuqinisekisa ukuba sikhona.

• Uvavanyo lwegazi okanye lomchamo: Olu vavanyo lunokulinganisa amanqanaba e-'NAA' yekhemikhali ekhankanyiweyo ngaphambili (i-N-acetyl-aspartate) okanye i-enzyme `ASPA` (i-aspartoacylase). Lunokufumanisa nokuba utshintsho lwemfuza olubangela esi sifo lukhona na.
• Uvavanyo lweeseli zesikhumba (ii-fibroblasts ezikhuliswe kwisikhumba): Ngamanye amaxesha, uhlobo oluthile lweseli (olubizwa ngokuba zii-fibroblasts ezikhuliswe kwisikhumba somntwana lukhuliswa kwilebhu kwaye luvavanywe ukungabikho kwe-enzyme ASPA.

Okumangalisayo kukuba kunokwenzeka ukubona ukuba kukho isifo saseCanavan ngaphambi kokuba umntwana azalwe .

• I-Amniocentesis: Oku kuquka ukuthatha isampuli encinci yolwelo (i-amniotic fluid) olujikeleze umntwana ngexesha lokukhulelwa kwaye uluvavanye ukuze ubone amanqanaba e-NAA. Olu vavanyo ludla ngokwenziwa nguwe.Phakathi kweeveki ezili-15 nezingama-20 zokukhulelwa.
• I-Chorionic Villus Sampling (CVS): Olu vavanyo lufumaneka kubazali abasengozini enkulu yokufumana isifo saseCanavan okanye abaziyo ukuba kukho umntu kusapho lwabo one-gene mutation. Kolu vavanyo, kuthathwa isampuli yezicubu ezivela kwi-placenta yomntwana kwaye kuvavanywa i-gene mutation. Oku kudla ngokwenziwa phakathi kweeveki ezili-10 ukuya kwezili-12 zokukhulelwa.

Ungathetha nogqirha wakho ngezi mvavanyo ukuze ufunde okungakumbi.

Ngaba ikho indlela yokunyanga isifo saseCanavan?

Enyanisweni, akukho nyango lwesifo saseCanavan okwangoku . Le yeyona nto ibuhlungu kakhulu. Ke ngoko, injongo ephambili yonyango lwangoku kukulawula iimpawu kunye nokugcina umntwana ekhululekile ixesha elide kangangoko kunokwenzeka.

Iindlela zonyango ezikhoyo ngoku zingabandakanya:

• Iityhubhu zokutyisa: Ezi tyhubhu zisetyenziselwa ukubonelela ngesondlo esifunekayo kunye nolwelo xa umntwana enengxaki yokuginya ukutya. Oku kunika umntwana amandla awadingayo.
• Amayeza okulwa nokuxhuzula: Abanye abantwana banokuba nokuxhuzula. Kwiimeko ezinjalo, oogqirha banika amayeza okubalawula.
• Unyango lomzimba: Oku kunceda ukulungisa ukuma komntwana, ukuqinisa izihlunu, nokuphuhlisa izakhono zonxibelelwano.

Kwakhona, uvavanyo lwemfuza kunye neengcebiso ngemfuza zibaluleke kakhulu kusapho lonke. Ngale ndlela, ukuba kuza kuzalwa omnye umntwana kwixesha elizayo, kuya kuba lula ukuqonda umngcipheko wokuba loo mntwana naye afumane esi sifo.

Liza kuba njani ikamva lomntwana onesifo iCanavan?

Xa kufikwa kwikamva lomntu onesifo saseCanavan, kuxhomekeke kuhlobo lwesifo. Oko kukuthi, nokuba luhlobo losana okanye uhlobo lolutsha.

• Abantwana abanesifo saseCanavan esisebancinci badla ngokuphila de babe neminyaka eli-10 ubudala. Abanye abantwana basenokuphila baze bafikelele kwiminyaka yabo yeshumi elivisayo okanye bafikelele kwiminyaka engamashumi amabini.
• Nangona kunjalo, ubomi obulindelekileyo kwabo banesifo saseCanavan esincinci nesiselula buqhelekile.

Iindaba ezimnandi zezokuba izazinzulu zichonge i-gene ebangela isifo saseCanavan. Ukongeza, kuqhutywa izifundo ezininzi zokufumana unyango lwesi sifo. Ezinye zazo ziquka:

• Unyango lwe-gene: Oku kuzama ukulungisa i-gene enesiphene.
• I-enzyme ye-ASPA eyenziweyo: Le enzyme yenzelwe ukufakwa egazini.
• Unyango lweeseli zesiqu:Eli lithemba elitsha.

Ukuba olu phando luphumelele, izigulane ezinomhlaza ziya kuba nethuba lokuphila ubomi obungcono kwixesha elizayo.

Ngaba isifo saseCanavan singathintelwa?

Enyanisweni, isifo saseCanavan asinakuthintelwa kuba sisifo semfuza. Nangona kunjalo, iintsapho zinokufumana uvavanyo lwe-DNA ukuze kufunyaniswe ukuba zinayo na i-gene mutation ebangela esi sifo. Into ebalulekileyo kukuba kuphela xa abazali bobabini benayo i-gene mutation apho umntwana wabo aza kuba nesifo.

Ngoko ke, ukufumana iimvavanyo ezinje kubanceda ukuba benze izigqibo ezisekelwe kulwazi ngaphambi kokuba babe nabantwana.

Buza ugqirha ngezi zinto.

Xa ufumanisa ukuba umntwana wakho unesifo iCanavan, kuyinto eqhelekileyo ukuba nemibuzo emininzi engqondweni yakho. Kubalulekile ukubuza ugqirha wakho ngezinto ezifana nezi:

• "Gqirha, loluphi uhlobo lokukhubazeka umntwana wam aza kuba nalo? Ndingalindela nini?"
• "Gqirha, ungandixelela ntoni ngobomi bomntwana wam?" (Nangona lo mbuzo kunzima ukuwubuza, kunokuba kubalulekile ukuba nombono othile.)
• "Ndingenza ntoni ukuze umntwana wam azive ekhululekile kwaye ekhuselekile?"
• "Luhlobo luni lweengcali umntwana wam afanele azibone? Zifanele zibonwe kangaphi?"
• "Ingaba licebo elihle ukuba lonke usapho lwethu luye kuvavanyo lwemfuza?"

Ukongeza kule mibuzo, ungathandabuzi ukubuza ugqirha nantoni na onayo, nokuba incinci kangakanani na.

Nina bazali nijamelana njani nomntwana wenu xa enesifo iCanavan Disease?

Xa ujongene nemeko enzima efana nale, kubalulekile ukukhumbula ukuba awuwedwa. Kukho izinto ezimbalwa ezinokukunceda:

• Unyango lwengcebiso/lokuthetha: Ukuthetha nomntu onokuthetha naye ngeemvakalelo zakho, ezinje ngosizi noloyiko, kunokuba luncedo kakhulu.
• Amaqela enkxaso: Ukuthetha nabanye abazali abaye badlula kwiimeko ezifanayo nawe kunokuba ngumthombo omkhulu wamandla. Kukunika uluvo lokuba "asisodwa esidlula kule meko."
• Joyina imibutho exhasa izigulane kunye nophando: Le mibutho ikunika ulwazi, isikhokelo, kunye nethuba lokunxibelelana nabanye.

Khumbula, impilo yakho yengqondo ibaluleke kakhulu. Kuphela xa unamandla apho uya kukwazi ukumnyamekela kakuhle umntwana wakho.

Okokugqibela, ezona zinto zibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Isifo iCanavan sisifo esingaqhelekanga nesinzulu semfuza esichaphazela izinto ezimhlophe zobuchopho. Kuqhelekile ukuba uzive uxinezelekile xa usiva oku. Kodwa awuwedwa.Thetha nogqirha wakho malunga nonyango umntwana wakho aludingayo. Buza nokuba uvavanyo lwe-DNA lufanelekile na kusapho lwakho.

Nangona esi sifo sidla ngokuba sibi kwaye sisongela ubomi, lithemba elincinci lokuba izazinzulu ziyaqhubeka nokuphanda unyango olutsha. Musa ukuphelelwa lithemba. Sikunqwenelela wena nomntwana wakho amandla abawadingayo.

Isifo saseCanavan , Izifo zofuzo, Izifo zobuchopho, Izifo zobuntwana, Izifo ze-Neurological, Ukulibaziseka kophuhliso, i-ASPA, i-NAA, i-Myelin, Uvavanyo lwe-Genetic