Ingabe ingane yakho encane iqale ukuhamba sekwephuzile kunezinye izingane? Noma ingabe iyawa njalo? Uke waphawula ukuthi inenkinga yokuvuka ihlezi noma ikhuphuke izitebhisi? Lezi yizinto ngezinye izikhathi esingazinaki kakhulu njengabazali. Kodwa ngezinye izikhathi lezi kungaba izimpawu zokuqala zesimo esifana ne-Duchenne Muscular Dystrophy. Ngakho ake sixoxe ngalokhu namuhla. Ungesabi, into ebaluleke kakhulu ukuqaphela lokhu.
Kuyini i-Duchenne Muscular Dystrophy (DMD)?
Kalula nje, 'i-muscular dystrophy' yiqembu lezifo ezenza imisipha ibe buthaka ngokuhamba kwesikhathi futhi zinciphise ukuguquguquka kwayo. Uhlobo oluvame kakhulu lwalokhu yi-Duchenne muscular dystrophy, esiyibiza ngokuthi i-DMD ngamafuphi.
Lokhu kungenxa yephutha esakhini sofuzo esiza ukugcina imisipha yethu iphilile. Cabanga ngemisipha yethu njengodonga lwezitini. Udonga oluhlanganisa lezi zitini luyiprotheni ebizwa ngokuthi i-dystrophin . Ezinganeni ezine-DMD, umzimba awukhiqizi le phrotheni ye-dystrophin, noma ukhiqiza okuncane kakhulu kuyo. Ngemuva kwalokho, njengodonga olungenalo udonga, imisipha yonakala kalula futhi kancane kancane iba buthaka.
Lesi simo sivame kakhulu kubafana . Izimpawu zivame ukuvela ebuntwaneni. Ekuqaleni, kungaba nzima ukuma, ukuhamba, nokukhuphuka izitebhisi. Ngokuhamba kwesikhathi, ezinye izingane kungadingeka zisebenzise isihlalo sabakhubazekile. Inhliziyo namaphaphu nakho kungathinteka.
Kodwa kukhona okubalulekile okufanele sikusho lapha. Ngokungafani nesikhathi esidlule, isikhathi sokuphila sanamuhla salezi zingane sikhuphuke kakhulu. Namuhla, zingaphila kahle zize zibe neminyaka engama-30, 40, ngisho naseminyakeni engama-50. Isizathu salokhu ukuthi kunezindlela zokwelapha ezinhle zokulawula izimpawu.
Ziyini izimpawu? Uzibona kanjani?
Uma ingane yakho ine-DMD, uzobona izimpawu zokuqala ngaphambi kokuba ineminyaka engu-6. Imisipha emilenzeni iyathinteka kuqala. Yingakho laba bantwana beqala ukuhamba sekwephuzile kunezinye izingane. Ngemva kokuqala ukuhamba, bawa njalo, babe nobunzima bokuvuka phansi, futhi babe nobunzima bokukhuphuka izitebhisi. Ngemva kwesikhashana, bangase baqale ukuzulazula noma ukuhamba ngezinzwane zabo.
Njengoba ingane ikhula, kungase kuvele izimpawu ezengeziwe.
| Isibonakaliso | Incazelo elula |
|---|---|
| I-Scoliosis | Ukucindezeleka kwe-vertebra, noma umgogodla. |
| Izinkontileka | Imisipha kanye nemisipha, ikakhulukazi emilenzeni, iba mifushane futhi iqine. |
| Ubunzima bokufunda | Ezinye izingane zingase zibe nezinkinga zokufunda noma zenkumbulo. |
| Ubunzima bokuphefumula | Ukuphefumula kanzima ngenxa yobuthakathaka bemisipha esekela amaphaphu. |
| Ikhanda elibuhlungu kanye nokozela | Ubuhlungu bekhanda, ikakhulukazi ekuseni, kanye nokulala emini. |
Kodwa khumbula, i-DMD ngokuvamile ayiyona inkinga ebuhlungu, futhi ayithinti ukuhlakanipha kwengane.
Indlela yokuxilonga lesi sifo ngokunembile?
Uma ubona lezi zimpawu enganeni yakho, into engcono kakhulu ongayenza ukubona udokotela womndeni wakho ngokushesha okukhulu. Uzokubuza ngezimpawu zengane yakho. Uzobe esehlola ingane bese, uma kudingeka, ekuthumelela izivivinyo ezithile.
Ukuhlolwa okufanele kwenziwe uma udokotela enokungabaza
- Ukuhlolwa kwegazi: Lokhu kubheka kakhulu i-enzyme ebizwa ngokuthi i-Creatine Kinase (CK) . Le enzyme ye-CK ikhishwa egazini lapho imisipha yonakele. Ngakho-ke uma izinga le-CK liphezulu kakhulu, kuyinkomba enkulu yokuthi une-DMD.
- Ukuhlolwa kwezakhi zofuzo: Lokhu kuhlolwa, okungenziwa ngesampula yegazi, kunganquma ngokunembile ukuthi kukhona yini iphutha ku-dystrophin gene elibangela i-DMD. Lokhu kuhlolwa kungenziwa ukuze kubonwe ukuthi izihlobo zesifazane nazo zinalo yini lolu gciwane (zingabathwali balesi sifo).
- Ukuhlolwa kwemisipha:Lapha, kuthathwa ingxenye encane kakhulu yomsipha wengane ngenaliti encane kakhulu bese ihlolwa ngaphansi kwe-microscope. Kungaqinisekiswa ukuthi iphrotheni ye-dystrophin iphansi yini ezingeni. Kodwa-ke, ngenxa yokuhlolwa kwezakhi zofuzo okuthuthukisiwe namuhla, lokhu kuhlolwa akudingeki ezimweni eziningi.
Yiziphi izindlela zokwelapha?
Akukho ukwelashwa kwe-DMD okwamanje. Kodwa-ke, kunezindlela eziningi zokwelapha ezisebenzayo zokulawula izimpawu nokuvikela imisipha, inhliziyo, namaphaphu.
- Ama-Corticosteroids: Izidakamizwa ezifana ne-Prednisone ne-Deflazacort zingasiza ekulawuleni ukulimala kwemisipha ngezinga elikhulu. Izingane ezithatha le mithi zingahamba iminyaka emi-2-5 isikhathi eside kunalezo ezingayithathi. Zisiza futhi inhliziyo namaphaphu ukuthi asebenze kangcono.
- Imithi Yanamuhla: Namuhla, kuye kwaziswa izindlela zokwelapha eziningana eziqondiwe kuye ngohlobo lwesici sofuzo esibangela i-DMD. Eminye yemithi ihlanganisa i-Eteplirsen, i-Golodirsen, ne-Casimersen. Lokhu kusiza ukubuyisela iphrotheni ye-dystrophin engekho ezingeni elithile.
- Ukwelashwa ngezakhi zofuzo: (Delandistrogene moxeparvovec - Elevidys) ukwelashwa ngezakhi zofuzo kokuqala okuvunyelwe ngale njongo. Kuhilela ukunikeza umzimba enye iphrotheni ethatha indawo yomsebenzi wephrotheni ye-dystrophin ngokwengxenye. Lokhu kuseyindlela yokwelapha entsha kakhulu futhi ebiza kakhulu.
- Iseluleko Sikadokotela Wenhliziyo: Izingane ezine-DMD zingaba nezinkinga zenhliziyo, ngakho-ke ukuhlolwa njalo nodokotela wenhliziyo kubalulekile. Eminye imithi yokucindezeleka kwegazi ingasiza ekuvikeleni imisipha yenhliziyo.
- Ukwelapha ngokuzivocavoca umzimba: Ukuzivocavoca umzimba kanye nokwelula umzimba kungasiza ekugcineni imisipha namalunga eguquguquka. Kubalulekile ukufuna iseluleko kudokotela wezifo zomzimba ngalokhu.
- Ukuhlinzwa: Kwezinye izimo, ukuhlinzwa kungadingeka ukuze kulungiswe imisipha eqinile (ukugoba) kanye nokulungisa ukugoba komgogodla (i-scoliosis).
Izinto ongazenza njengabazali
Kuvamile ukuzizwa ukhungathekile uma uthola ukuthi ingane yakho inesifo esifana ne-DMD. Kodwa khumbula, ukuba nalesi simo akusho ukuthi ingane yakho ayikwazi ukuya esikoleni, ukudlala nabangani, noma ukujabula. Ngokulandela uhlelo lokwelashwa olufanele, ungasiza ingane yakho iphile impilo esebenzayo.
- Basize bame futhi bahambe ngangokunokwenzeka: Lokhu kusiza ukugcina amathambo abo eqinile nomgogodla wabo uqondile. Uma kudingeka, ungasebenzisa amadivayisi anjenge-'braces' noma 'i-'standing walker'.
- Nikeza ukudla okunempilo:Akukho ukudla okuqondile kwe-DMD. Kodwa-ke, ukudla okunempilo kungasiza ekulawuleni isisindo futhi kuvimbele izinto ezifana nokuqunjelwa. Khuluma nochwepheshe wezokudla ukuze udale uhlelo lokudla olufanela ingane yakho.
- Hlala umatasa: Funa iseluleko kudokotela wezokwelapha umzimba bese uhilela ingane yakho ekuzivocavoceni okuphephile okungayicindezeli imisipha.
- Yiba namandla futhi: Ukukhuluma neminye imindeni enezingane ezinjengalezi nokwabelana ngolwazi kuzoba umthombo omkhulu wamandla kuwe. Joyina amaqembu okusekela ngalokho. Uma kudingeka, ungangabazi ukufuna usizo kudokotela wengqondo.
Ekuphetheni, impilo ene-DMD iyinselele. Kodwa ngokwelashwa okufanele, ukwelashwa ngokomzimba, ukudla okunomsoco, kanye nokunakekelwa ngothando, laba bantwana bangaphila impilo ephumelelayo nejabulisayo njengabo bonke abanye emphakathini wanamuhla. Sonke sinethemba lokuthi ngokuthuthuka kwesayensi, kuzovela ukwelashwa okungcono nakakhulu esikhathini esizayo.
Umlayezo Wokuya Nawe Ekhaya
- I-Duchenne muscular dystrophy (DMD) yisifo esibangelwa izakhi zofuzo esibangela ubuthakathaka bemisipha obuqhubekayo obuthinta kakhulu abafana.
- Izimpawu zokuqala zingase zihlanganise ingane ukuba sekwephuzile ukuhamba, ukuwa njalo, kanye nobunzima bokukhuphuka izitebhisi.
- Uma usola ukuthi unesifo, bona udokotela wakho ngokushesha ukuze uthole iseluleko. Ukuhlolwa kwegazi nokuhlolwa kofuzo kungasiza ekuxilongweni.
- Nakuba lokhu kungelapheki ngokuphelele, imithi yama-steroid, izindlela zokwelapha zesimanje eziqondiwe, kanye nokwelashwa ngokomzimba kungathuthukisa kakhulu ikhwalithi yokuphila kwengane kanye nempilo yayo.
- Kubaluleke kakhulu ukufuna usizo kudokotela wezifo zenhliziyo kanye nodokotela wezifo zomzimba.
- Njengomzali, ukuhlala uqinile engqondweni nokuthola usizo emaqenjini okusekelana kuyisici esikhulu kuwe nakumntanakho.
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