Ingabe ingane yakho inalezi zimpawu? Ake sixoxe ngesifo iCanavan

Ingabe unakho ukungabaza noma ukwesaba ngokukhula kwengane yakho encane? Ngezinye izikhathi, lapho izingane zethu ziziphatha ngendlela ehlukile kunezinye izingane, noma lapho ukukhula kwazo kulibaziseka, sizibuza ngezinto ezahlukene. Kubaluleke kakhulu ukuqaphela ngezikhathi ezinjengalezi. Namuhla, sizokhuluma ngesifo esingavamile kodwa esibi kakhulu sofuzo. Lokhu kubizwa ngokuthi i-Canavan Disease.

Iyini i-Canavan Disease? Kalula nje...

Isifo iCanavan isifo esingavamile kakhulu esithinta izakhi zofuzo . Sithinta ngqo ubuchopho bethu. Uma sikhuluma iqiniso, kuyisimo sokuwohloka kwemizwa. Okusho ukuthi, ngokuhamba kwesikhathi, ukukhubazeka ebuchosheni kuyakhula kancane kancane futhi kube kubi kakhulu. Cabanga nje, ubuchopho bethu budinga amakhemikhali athile abalulekile ukuze busebenze kahle, akunjalo? Nokho, lapho lesi sifo sikhula, ubuchopho buntula ikhemikhali ebalulekile. Ngenxa yalokho, ubuchopho kancane kancane buba njengesiponji , njengephepha. Khona-ke ubuchopho abukwazi ukwenza umsebenzi walo kahle.

Isifo iCanavan singeseqembu lezifo ezibizwa ngokuthi "i-leukodystrophies." Lezi futhi ziyizifo ezingavamile kakhulu, ezihambisana nofuzo. Zithinta ubuchopho bethu, umgogodla (okungukuthi, intambo yemizwa engaphakathi komgogodla), kanye neminye imizwa. Into edabukisayo ukuthi lezi zimpawu ziya ziba zimbi ngokuhamba kwesikhathi.

Yiziphi izinhlobo eziyinhloko zesifo iCanavan?

Singabona lesi sifo saseCanavan ngezinhlobo ezimbili eziyinhloko. Okusho ukuthi, sihlukaniswa ngokwesikhathi sokuqala kwalesi sifo kanye nobunzima baso.

1. Isifo Sezinsana SaseCanavan:

Lolu uhlobo oluvame kakhulu , futhi lubuye lube lubi kakhulu . Iningi lezingane ezinesifo iCanavan zinalolu hlobo. Ngokudabukisayo, izingane ezizalwa nalesi simo zivame ukufa zisencane noma zisencane.

2. Isifo Sezingane ZaseCanavan:

Lolu hlobo aluvamile futhi alubi kakhulu njengohlobo lwangaphambilini. Izimpawu azibi kakhulu. Ingxenye engcono kakhulu ukuthi lolu hlobo alubonakali lufinyeza isikhathi sokuphila komuntu.

Ubani osengozini enkulu yokuthola isifo iCanavan Disease?

Empeleni, isifo saseCanavan singathinta noma ubani . Kuyisifo esibangelwa izakhi zofuzo. Kodwa-ke, sivame kakhulu emaqenjini athile ezinhlanga. Ikakhulukazi, sivame kakhulu kumaJuda ase-Ashkenazi, avela ezindaweni ezifana nempumalanga yePoland, iLithuania, kanye nentshonalanga yeRussia. Phakathi kwabo, kulinganiselwa ukuthi ingane eyodwa kwezingu-6,400 kuya kwezingu-13,500 ezizalwayo ithinteka yilesi sifo.

Kodwa into ebaluleke kakhulu okufanele uyikhumbule ukuthi njengoba lesi kuyisifo sofuzo, uma bobabili abazali benaso isakhi sofuzo esibangela lesi sifo, ingane yanoma yiluphi uhlanga, noma yiliphi izwe, ingasithola lesi sifo.

Kungani kwenzeka i-Canavan Disease? Iyini imbangela?

Kalula nje, isifo iCanavan siyisifo esidluliselwa ngofuzo . Okusho ukuthi, sidluliselwa kubazali kubantwana.

Isizathu esiyinhloko salokhu ukuguquka kwesinye sezakhi zofuzo zethu. Lesi sakhi sofuzo sikhiqiza i-enzyme ebizwa ngokuthi i-aspartoacylase (ASPA) . Cabanga ngale enzyme ye-ASPA njengesisebenzi esikhethekile ebuchosheni bethu. Umsebenzi wayo ukuphula ikhemikhali ebizwa ngokuthi i-N-acetyl-aspartate (NAA) . Lesi sakhi sofuzo sitholakala ebuchosheni.

Manje, kumuntu onesifo iCanavan, umzimba awukhiqizi ngokwanele le enzyme ethi 'ASPA'. Kwenzekani-ke? Leyo khemikhali ethi 'NAA' iqala ukuqongelela ezicutshini zobuchopho. Kufana nokungcola okuvela efektri. Uma i-'NAA' iqongelela kanje, ilimaza ungqimba lwamafutha olubizwa ngokuthi 'myelin' olufana nesivikelo esizungeze imizwa ebuchosheni bethu kanye nomgogodla. Le myelin ifana nesigxobo sepulasitiki esizungeze ucingo lukagesi, isiza imiyalezo yemizwa ukuthi ihambe kahle, futhi yondla imizwa.

Ngakho-ke, uma le myelin yonakele, ngokuhamba kwesikhathi ubuchopho buba yi-sponge futhi bube uketshezi . Okusho ukuthi, kunezikhala ezincane eziningi ngaphakathi kobuchopho ezigcwele uketshezi. Futhi ubuchopho abukwazi ukuthumela noma ukwamukela imiyalezo yezinzwa kahle. Uyaqonda ukuthi lokhu kwenzeka kanjani?

Ziyini izimpawu zesifo iCanavan? Sitholakala kanjani?

Isifo Sezingane Ezincane iCanavan sivame ukuqala ukukhombisa izimpawu phakathi kwezinyanga ezintathu neziyisithupha ubudala . Lezi zimpawu aziveli ngokuzumayo, kodwa zibonakala kancane kancane. Njengabazali, kufanele nikwazi lokhu.

Izici eziyinhloko ezibonakalayo yilezi:

• Ukukhubazeka kwemisipha: Lokhu kusho ukuthi ngezinye izikhathi umzimba womntwana ungase ukhululeke kakhulu noma uqine ngendlela engavamile . Ngokukhethekile, amandla emisipha ayancipha. Ngezinye izikhathi, umntwana angase azizwe "njengendwangu edabukile" uma uyiphakamisa.
• Ikhanda elikhulu ngokungavamile (i-macrocephaly): Ikhanda lomntwana liba likhulu ngokungavamile ngokweminyaka yakhe. Futhi, umntwana uba nobunzima bokulawula ikhanda lakhe ngendlela efanele. Akakwazi ukubamba intamo yakhe ngendlela efanele.
• Ukulibaziseka kokukhula: Lesi yisibonakaliso sokuqala abazali abaningi abasiqaphelayo. Bangase bangakwazi ukwenza izinto ezenziwa abanye abantwana, njengokugingqika , ukuhlala, ukukhasa, ukuhamba, nokukhuluma.Lezi zingane zingase zenze izinto sekwephuzile kakhulu, noma zingase zingazenzi nhlobo ezinye izinto. Isibonelo, ngenkathi ezinye izingane zizama ukuhlala phansi ezinyangeni ezingu-6-7, lezi zingane zingase zingakwazi ukukwenza.
• Ubunzima bokudla nokugwinya: Ingane ingaba nobunzima bokuphuza ubisi nokugwinya ukudla. Ingase izizwe sengathi ihlale iklinywa.
• Ukuntuleka kwamakhono okunyakaza: Amandla okulawula ukunyakaza komzimba ayancipha. Ngokukhethekile, ukungakwazi ukulawula izitho zomzimba kahle. Lokhu ngezinye izikhathi kubizwa ngokuthi "ukungaguquguquki," okusho ukuthi umzimba uzizwa ubuthakathaka.
• Ukuziphatha kokuthula nokungaphenduli: Ingane ithule kakhulu. Ngisho noma uyinika ithoyizi, ayinasithakazelo kulo. Ayibonisi mizwa noma isithakazelo . Imomotheka kancane, ayikhali kakhulu, noma ihlale injalo.

Izingane eziningi ezinalezi zimpawu ziba zimbi ngokushesha . Lapho zineminyaka eyi-10, izinkinga ezisongela ukuphila zingavela. Ngaphezu kwalokho, ezinye izinkinga zingavela ngalesi simo.

• Ukulahlekelwa ukuzwa
• Ukukhubazeka kwengqondo
• Ukuqaqamba kwemisipha
• Ubunzima bokugwinya buyanda
• Ukulahlekelwa umbono

Kodwa-ke, labo abanesifo se-Canavan esishiwo ngaphambilini, esibonakala besebancane, ababonisi izimpawu ezinzima kangaka. Bangase babe nokubambezeleka okuncane kokukhula. Bangase babe nobunzima bokukhuluma, noma bangase babe ngemuva kancane kwezinye izingane emsebenzini wesikole. Kodwa-ke, izimpawu azizimbi kangako.

Wazi kanjani ukuthi unesifo iCanavan Disease?

Uma udokotela wakho esola ukuthi une-Canavan isifo ngokusekelwe ezimpawini zengane yakho, angenza izivivinyo eziningana ukuze asiqinisekise.

• Ukuhlolwa kwegazi noma komchamo: Lokhu kuhlolwa kungalinganisa amazinga ekhemikhali eshiwo ngaphambilini ethi `NAA` (N-acetyl-aspartate) noma i-enzyme ethi `ASPA` (aspartoacylase). Kungaphinde kubone ukuthi ngabe kukhona yini ukuguquka kwezakhi zofuzo okubangela lesi sifo.
• Ukuhlolwa kwamaseli esikhumba (ama-fibroblast akhuliswe): Ngezinye izikhathi, uhlobo olukhethekile lweseli (olubizwa ngokuthi ama-fibroblast akhuliswe) oluthathwe esikhumbeni somntwana luyakhuliswa elabhorethri futhi luhlolwe ukuntuleka kwe-enzyme i-ASPA.

Okumangalisayo ukuthi kungenzeka ukubona ukuthi kukhona isifo iCanavan ngaphambi kokuba umntwana azalwe .

• I-Amniocentesis: Lokhu kuhilela ukuthatha isampula encane yoketshezi (i-amniotic fluid) oluzungeze umntwana ngesikhathi sokukhulelwa bese uluhlola amazinga e-NAA. Lokhu kuhlolwa kuvame ukwenziwa nguwe.Phakathi kwamasonto ayi-15 nama-20 okukhulelwa.
• Ukusampula Kwe-Chorionic Villus (CVS): Lokhu kuhlolwa kuyatholakala kubazali abasengozini enkulu yokuthola isifo iCanavan noma abaziyo ukuthi othile emndenini wabo une-gene mutation. Kulokhu kuhlolwa, kuthathwa isampula yezicubu ezivela ku-placenta yengane bese kuhlolwa ukuthi i-gene mutation ikuphi. Lokhu kuvame ukwenziwa phakathi kwamasonto ayi-10 kuya kwayi-12 okukhulelwa.

Ungakhuluma nodokotela wakho ngalezi zivivinyo ukuze ufunde kabanzi.

Ingabe ikhona indlela yokwelapha isifo iCanavan?

Eqinisweni, alikho ikhambi lesifo saseCanavan okwamanje . Lena yingxenye edabukisayo kakhulu. Ngakho-ke, umgomo oyinhloko wokwelashwa kwamanje ukulawula izimpawu nokugcina ingane ikhululekile isikhathi eside ngangokunokwenzeka.

Izinketho zokwelapha zamanje zingafaka:

• Amapayipi okondla: Lawa mapayipi asetshenziselwa ukunikeza ukudla okunomsoco kanye noketshezi oludingekayo lapho ingane inenkinga yokugwinya ukudla. Lokhu kunikeza ingane amandla ayidingayo.
• Imithi Yokulwa Nokuxhuzula: Ezinye izingane zingase zibe nokuxhuzula. Ezimweni ezinjalo, odokotela banikeza imithi yokulawula.
• Ukwelashwa ngokomzimba: Lokhu kusiza ukulungisa ukuma kwengane, ukuqinisa imisipha, nokuthuthukisa amakhono okuxhumana.

Futhi, ukuhlolwa kwezakhi zofuzo kanye nokwelulekwa kwezakhi zofuzo kubaluleke kakhulu emndenini wonke. Ngale ndlela, uma kuzalwa omunye umntwana esikhathini esizayo, kuzokwazi ukuqonda ingozi yokuthi lowo mntwana naye athole lesi sifo.

Lizoba yini ikusasa ngengane enesifo iCanavan Disease?

Uma kukhulunywa ngekusasa lomuntu onesifo iCanavan, kuncike ohlotsheni lwesifo. Okusho ukuthi, kungakhathaliseki ukuthi uhlobo losana noma uhlobo lomntwana.

• Izingane ezinesifo saseCanavan ezisacathula zivame ukuphila zize zibe neminyaka engaba yi-10 ubudala. Ezinye izingane zingase ziphile zize zibe neminyaka yobusha noma ziqale eminyakeni engamashumi amabili.
• Kodwa-ke, isikhathi sokuphila salabo abanesifo saseCanavan esincane nesisebancane ngokuvamile sivamile.

Izindaba ezinhle ukuthi ososayensi bathole i-gene ebangela isifo i-Canavan. Ngaphezu kwalokho, kuqhutshwa izifundo eziningi zokuthola ukwelashwa kwalesi sifo. Ezinye zazo zifaka:

• Ukwelashwa ngezakhi zofuzo: Lokhu kuzama ukulungisa izakhi zofuzo ezinephutha.
• I-enzyme ye-ASPA yokwenziwa: Le enzyme yenzelwe ukufakwa egazini.
• Ukwelashwa ngamaseli e-stem:Lokhu futhi kuyithemba elisha.

Uma lolu cwaningo luphumelela, iziguli ezinomdlavuza zizoba nethuba lokuphila impilo engcono esikhathini esizayo.

Ingabe isifo saseCanavan singavinjelwa?

Empeleni, isifo saseCanavan asinakuvinjelwa ngoba siyisimo sofuzo. Kodwa-ke, imindeni ingathola ukuhlolwa kwe-DNA ukuthola ukuthi ngabe ine-gene mutation ebangela lesi sifo. Into ebalulekile ukuthi ingane yabo iyoba nalesi sifo kuphela uma bobabili abazali benayo i-gene mutation.

Ngakho-ke, ukuthola izivivinyo ezinjengalezi kubasiza ukuba benze izinqumo ezinolwazi ngaphambi kokuba babe nezingane.

Buza udokotela ngalezi zinto.

Uma uthola ukuthi ingane yakho inesifo iCanavan, kuvamile ukuba nemibuzo eminingi engqondweni yakho. Kubalulekile ukubuza udokotela wakho ngezinto ezifana nalezi:

• "Dokotela, hlobo luni lokukhubazeka ingane yami ezobhekana nalo? Kufanele ngikulindele nini?"
• "Dokotela, ungangitshelani ngokuphila komntwana wami?" (Nakuba lo mbuzo unzima ukuwubuza, kungaba yinto ebalulekile ukuthola umbono othile.)
• "Yini engingayenza ukuze ingane yami ikhululeke futhi iphephe kakhudlwana?"
• "Hlobo luni lochwepheshe okufanele ingane yami ilubone? Kufanele lubonwe kangaki?"
• "Ingabe kuwumqondo omuhle ukuthi wonke umndeni wethu uthole ukuhlolwa kofuzo?"

Ngaphezu kwale mibuzo, ungangabazi ukubuza udokotela noma yini onayo, kungakhathaliseki ukuthi incane kangakanani.

Nina njengabazali nibhekana kanjani nesimo lapho ingane yenu ine-Canavan Disease?

Uma ubhekene nesimo esinzima njengalesi, kubalulekile ukukhumbula ukuthi awuwedwa. Kunezinto ezimbalwa ezingakusiza:

• Ukwelulekwa/Ukwelashwa ngenkulumo: Ukukhuluma nomuntu ongakhuluma naye ngemizwa yakho, njengokudabuka nokwesaba, kungaba impumuzo enkulu.
• Amaqembu okusekelana: Ukukhuluma nabanye abazali abadlule ezintweni ezifanayo nawe kungaba umthombo omkhulu wamandla. Kukunika umuzwa wokuthi "asisibodwa esidlula kulokhu."
• Joyina izinhlangano ezisekela iziguli kanye nocwaningo: Lezi zinhlangano zikunikeza ulwazi, isiqondiso, kanye nethuba lokuxhumana nabanye.

Khumbula, impilo yakho yengqondo nayo ibaluleke kakhulu. Uma unamandla kuphela lapho uzokwazi ukunakekela kahle ingane yakho.

Okokugcina, izinto ezibaluleke kakhulu okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Isifo iCanavan siyisifo esingavamile nesingathi sína esithinta izinto ezimhlophe zobuchopho. Kuvamile ukuzizwa ukhungathekile uma uzwa lokhu. Kodwa awuwedwa.Khuluma nodokotela wakho mayelana nokunakekelwa kanye nokwelashwa ingane yakho ekudingayo. Buza futhi ukuthi ukuhlolwa kwe-DNA kufaneleka yini emndenini wakho.

Nakuba lesi sifo sivame ukuba sibi futhi sisongela ukuphila, kuyinhlansi encane yethemba lokuthi ososayensi bayaqhubeka nokucwaninga izindlela ezintsha zokwelapha. Ungalilahli ithemba. Sifisela wena nengane yakho amandla abawadingayo.

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Isifo saseCanavan , Izifo Zofuzo, Izifo Zobuchopho, Izifo Zobuntwana, Izifo Zezinzwa, Ukulibaziseka Kokukhula, i-ASPA, i-NAA, i-Myelin, Ukuhlolwa Kofuzo