Ukubona umntwana osanda kuzalwa ehlupheka futhi eqala ukuhamba kuyintokozo enkulu kunoma yimuphi umama noma ubaba. Kodwa ngezinye izikhathi, sibona ukuntuleka kwamandla emisipha nokunyakaza kwabanye abantwana. Esinye isizathu salokhu kungaba yisimo esikhuluma ngaso namuhla esibizwa ngokuthi i-Spinal Muscular Atrophy , noma i-SMA ngamafuphi. Nakuba lokhu kuyindaba engathi sína, kubaluleke kakhulu ukuba nolwazi olufanele ngakho.
Kalula nje, kuyini i-Spinal Muscular Atrophy (SMA)?
I-Spinal Muscular Atrophy (SMA) yisifo esibangelwa izakhi zofuzo. Imisipha emzimbeni wethu ilawulwa uhlobo lweseli lemizwa. Sibiza lawa ma-motor neuron . Cabanga ngakho njengobuchopho bakho buyisitshalo sakho samandla esiyinhloko. Ukusuka lapho, lawa ma-motor neuron 'ayizintambo' ezithwala izimpawu zikagesi eziya emisipheni esezingalweni nasemilenzeni yakho. Ku-SMA, lawa ma-motor neuron asentanjeni yomgogodla ayalimala futhi kancane kancane abuthakathaka. Lapho lawa 'ma-motor neurons' ebuthakathaka, izimpawu ezivela ebuchosheni azifinyeleli kahle emisipheni. Ngenxa yalokho, imisipha iqala ukufinyela futhi ibuthakathaka.
Kungathinta kokubili izingane kanye nabantu abadala. Ukuze ingane ibe nalesi sifo, i-gene ebangela lesi sifo kumele itholwe njengefa kubazali bobabili . Cishe umuntu omdala oyedwa kwabangu-50 emphakathini angaba ngumthwali walesi gene. Lokhu kusho ukuthi yize benalesi gene emzimbeni wabo, ababonisi zimpawu. Kodwa-ke, kunethuba lokuthi ingane izozuza lesi sifo kubazali ababili abasithwalayo. Ngokwesilinganiso, cishe umntwana oyedwa kwabangu-10,000 ozelwe angahlakulela lesi simo.
Okubalulekile, ubukhali be-SMA buyahlukahluka kuye ngokuthi izimpawu ziqala ukuvela nini. Ngokuvamile, uma izimpawu ziqala ebuntwaneni, isimo singaba sibi kakhulu.
Izinhlobo eziyinhloko zesifo se-SMA kanye nezici zazo
Odokotela bahlukanisa lesi sifo ngezinhlobo eziningana eziyinhloko ngokusekelwe esikhathini sokuqala kanye nobunzima bezimpawu. Ake sibheke uhlobo ngalunye ngokuningiliziwe.
| Uhlobo lwe-SMA | Isikhathi sokuqala kwezimpawu | Izici eziyinhloko nemininingwane |
|---|---|---|
| Uhlobo 0 | Kusukela ngaphambi kokuzalwa |
|
| Uhlobo 1 (Isifo sikaWerdnig-Hoffmann) | Cishe ezinyangeni ezintathu | |
| Uhlobo 2 | Phakathi kwezinyanga ezingu-7 nezingu-18 | |
| Uhlobo 3 (Isifo saseKugelberg-Welander) | Ebuntwaneni noma ebusheni | |
| Uhlobo 4 | Lapho umuntu esemdala (ngokuvamile ngemva kweminyaka engu-30) |
Kungani kufanele ukhathazeke ngalezi zimpawu?
Njengoba ubona, i-SMA ithinta kakhulu imisipha esiza umzimba ukuthi ushukume. Kodwa ayigcini lapho.
- Ukuphefumula: Imisipha esifubeni sethu isisiza ukuthi siphefumule singene futhi siphume. Uma le misipha iba buthakathaka, asikwazi ukuphefumula kahle. Lokhu kungaholela ezifweni zokuphefumula ezivame ukwenzeka njenge-pneumonia.
- Ukudla: Imisipha emphinjeni nasemlonyeni wethu isisiza ukugwinya nokumunca ukudla. Uma ibuthakathaka, ingane ayikwazi ukumunca noma ukugwinya ukudla kahle. Lokhu kungaholela ekungondleki kahle.
- Ukuma komzimba: Lapho imisipha esiza ukugcina umgogodla uqondile iba buthaka, umgogodla uqala ukugoba (i-scoliosis). Lokhu kungenza ukuphefumula kube nzima kakhulu.
Ingabe kukhona ukwelashwa?
Akukabikho ikhambi le-SMA. Kodwa-ke, eminyakeni yamuva nje, intuthuko kwezesayensi yezokwelapha ilethe izindlela zokwelapha eziningana ezintsha ezingalawula ukuqhubeka kwesifo futhi zilawule izimpawu.
Isibonelo, izindlela ezimbili zokwelapha ezivunyelwe yi-US FDA yilezi:
- I-Nusinersen (i-Spinraza)
- Onasemnogene abeparvovec-xioi (Zolgensma)
Lezi izindlela zokwelapha eziyinkimbinkimbi kakhulu futhi ezibizayo ezisebenza ezingeni lofuzo. Kubalulekile ukukhuluma nodokotela wakho ngokutholakala kwazo kanye nokutholakala kwazo eSri Lanka.
Okubalulekile: Uchwepheshe ohlola wena noma ingane yakho kuphela okufanele anqume ukuthi yikuphi ukwelashwa okungcono kakhulu kuwe noma enganeni yakho. Ungalokothi wenze izinqumo ngokusekelwe olwazini olutholakala ku-inthanethi.
Ngaphezu kwalokho, i-physiotherapy, izivivinyo zokuphefumula, iseluleko sokudla okunempilo, kanye, uma kudingeka, ukuhlinzwa (isb., ukuhlanganiswa komgogodla) kusiza ukuthuthukisa ikhwalithi yokuphila kwesiguli futhi kuvimbele izinkinga.
Umlayezo Wokuya Nawe Ekhaya
- I-Spinal Muscular Atrophy (SMA) yisifo esithinta izakhi zofuzo esithinta amangqamuzana ezinzwa alawula imisipha yethu.
- Lesi sifo sihlukaniswe ngezinhlobo eziningana ngokusekelwe eminyakeni lapho izimpawu ziqala khona. Uma izimpawu ziqala zisencane, isimo singaba sibi kakhulu.
- Uma umzimba wengane yakho "unamaqhubu" futhi unobunzima bokuphakamisa ikhanda layo, ukugingqika, noma ukuhlala phansi, bheka udokotela wezingane oqeqeshiwe ngokushesha.
- Nakuba i-SMA ingelapheki ngokuphelele, izindlela zokwelapha zesimanje ezifana nokwelashwa ngokomzimba zingasiza ekulawuleni lesi sifo futhi zithuthukise ikhwalithi yokuphila.
- Noma yisiphi isinqumo sokwelashwa kufanele senziwe kuphela ngemva kokuxoxisana nodokotela wakho.
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