Yiziphi Izindlela Zokwelapha Ezitholakalayo Ze-Spinal Muscular Atrophy?

-Delile

• Ukunakekelwa kweMultidisciplinary
• Izindlela zokwelashwa ezihlosiwe
• Spinraza
• Zolgensma
• Ukwelashwa kokuhlola
• Izindlela zokwelapha ezisekelayo
• Impilo yokuphefumula
• Impilo yokudla okunempilo kanye nokugaya ukudla
• Amathambo nempilo ehlangene
• Ukusekelwa ngokomzwelo
• Ukuthatha

I-Spinal muscular atrophy (SMA) yisimo sezakhi zofuzo esingajwayelekile esenza ukuthi imisipha ibe buthakathaka futhi ikhuluphale. Izinhlobo eziningi ze-SMA zitholakala ezinganeni noma ezinganeni ezincane.

I-SMA ingadala ukukhubazeka ngokuhlanganyela, ubunzima bokudla, nezinkinga zokuphefumula ezisongela impilo. Izingane nabantu abadala abane-SMA bangaba nobunzima bokuhlala, ukuma, ukuhamba, noma ukuqeda eminye imisebenzi ngaphandle kosizo.

Okwamanje alikho ikhambi elaziwayo le-SMA. Kodwa-ke, izindlela zokwelashwa ezintsha ezihlosiwe zingasiza ekuthuthukiseni umbono wezingane nabantu abadala abane-SMA. Ukwelashwa okusekelayo kuyatholakala futhi ukusiza ukuphatha izimpawu nezinkinga ezingaba khona.

Thatha isikhashana ufunde kabanzi mayelana nezindlela zokwelashwa ze-SMA.

Ukunakekelwa kweMultidisciplinary

I-SMA ingathinta umzimba wengane yakho ngezindlela ezahlukene. Ukuphatha izidingo zabo ezahlukahlukene zokusekelwa, kubalulekile ukuhlanganisa iqembu lezinhlobonhlobo zochwepheshe bezokunakekelwa kwezempilo.

Ukuhlolwa njalo kuzovumela ithimba lezempilo lengane yakho ukuthi liqaphe isimo salo futhi lihlole ukuthi uhlelo lwalo lokwelashwa lusebenza kahle kangakanani.

Bangancoma ushintsho ohlelweni lokwelashwa kwengane yakho uma ingane yakho iqala izimpawu ezintsha noma eziba zimbi. Bangancoma nezinguquko uma kutholakala ukwelashwa okusha.

Izindlela zokwelashwa ezihlosiwe

Ukwelapha izimbangela eziyisisekelo ze-SMA, i-Food and Drug Administration (FDA) isanda kuvumela izindlela zokwelashwa ezimbili eziqondisiwe:

• nusinersen (Spinraza), evunyelwe ukwelapha ama-SMA ezinganeni nakubantu abadala
• i-onasemnogene abeparvovec-xioi (iZolgensma), evunyelwe ukwelapha i-SMA ezinganeni ezingaphansi kweminyaka emibili

Lezi zindlela zokwelapha zintsha, ngakho-ke ochwepheshe abazi okwamanje ukuthi kungaba yini imiphumela yesikhathi eside yokusebenzisa lezi zindlela zokwelapha. Izifundo ziphakamisa ukuthi zinganciphisa kakhulu noma zinciphise ukuqhubeka kwe-SMA.

Spinraza

I-Spinraza wuhlobo lwemithi olwenzelwe ukukhulisa ukukhiqizwa kweprotheni ebalulekile, eyaziwa njenge-sensor motor neuron (SMN) protein. Abantu abane-SMA abazikhiqizi ngokwanele le phrotheni ngokwabo.

Ukwamukelwa kokwelashwa okususelwa ezifundweni zokwelashwa eziphakamisa ukuthi izinsana nezingane ezithola ukwelashwa kungenzeka zibe nezinyathelo ezithuthukisiwe zezimoto, njengokukhasa, ukuhlala, ukuzigingqa, ukuma noma ukuhamba.

Uma udokotela wengane yakho eyalela iSpinraza, bazofaka umuthi kuluketshezi oluzungeze umgogodla wengane yakho. Bazoqala ngokunikeza imithamo emine yomuthi ezinyangeni ezimbalwa zokuqala zokwelashwa. Ngemuva kwalokho, bazonikeza umthamo owodwa njalo ezinyangeni ezine.

Imiphumela emibi engaba khona yomuthi ifaka:

• ingozi eyengeziwe yokutheleleka ngokuphefumula
• ingozi eyengeziwe yezinkinga zokopha
• ukulimala kwezinso
• ukuqunjelwa
• ukuhlanza
• ikhanda
• ukuhlungu obusemhlane
• imfiva

Yize imiphumela emibi ingenzeka, khumbula ukuthi umhlinzeki wezokunakekelwa kwezempilo wengane yakho uzoncoma kuphela umuthi uma bekholelwa ukuthi izinzuzo zidlula ubungozi bemiphumela emibi.

Zolgensma

I-Zolgensma uhlobo lokwelashwa kofuzo, lapho igciwane eliguquliwe lisetshenziselwa ukuletha ukusebenza I-SMN1 zofuzo kumaseli ezinzwa. Abantu abane-SMA abanalo lolu hlobo olusebenzayo.

Ukwamukelwa kwemithi kususelwa ekuhlolweni kwemitholampilo okubandakanya kuphela izinsana ezine-SMA ezingaphansi kweminyaka engu-2 ubudala. Abahlanganyeli ezivivinyweni bakhombise ukuthuthuka okuphawulekayo emigudwini yentuthuko, njengokulawulwa kwekhanda kanye nokukwazi ukuhlala ngaphandle kosizo, uma kuqhathaniswa nalokho obekulindelekile ezigulini ezingakutholi ukwelashwa.

I-Zolgensma iyindlela yokwelashwa yesikhathi esisodwa enikezwa ngomjovo we-intravenous (IV).

Imiphumela emibi engaba khona ibandakanya:

• ukuhlanza
• ukwanda kwama-enzyme wesibindi
• ukulimala kwesibindi okungathi sína
• izimpawu ezengeziwe zokulimala kwemisipha yenhliziyo

Uma udokotela wengane yakho enquma iZolgensma, kuzodingeka ba-oda izivivinyo zokuqapha impilo yesibindi yengane yakho ngaphambi, ngesikhathi nangemva kokwelashwa. Bangaphinde banikeze imininingwane ethe xaxa mayelana nezinzuzo nezingozi zokwelashwa.

Ukwelashwa kokuhlola

Ososayensi bacwaninga ezinye izindlela zokwelashwa ezingaba khona ze-SMA, kufaka phakathi:

• busisiwe
• i-branaplam
• reldesemtiv
• I-SRK-015

I-FDA ayikazamukeli lezi zindlela zokwelapha zokuhlola. Kodwa-ke, kungenzeka ukuthi inhlangano ingavuma eyodwa noma ngaphezulu yalezi zindlela zokwelashwa esikhathini esizayo.

Uma unentshisekelo yokufunda kabanzi mayelana nezinketho zokuhlola, khuluma nodokotela wengane yakho mayelana nokuhlolwa kwemitholampilo. Ithimba lakho lezokunakekelwa kwempilo lingakwazi ukukunikeza imininingwane ethe xaxa mayelana nokuthi ngabe ingane yakho ingabamba iqhaza esivivinyweni sasemtholampilo, kanye nezinzuzo nezingozi ezingaba khona.

Izindlela zokwelapha ezisekelayo

Ngaphezu kokwelapha okubhekiswe ekwelapheni i-SMA, udokotela wengane yakho angancoma ezinye izindlela zokwelapha ukuphatha izimpawu noma izinkinga ezingaba khona.

Impilo yokuphefumula

Izingane ezine-SMA zivame ukuba nemisipha yokuphefumula ebuthakathaka, okwenza kube nzima ukuphefumula. Abaningi baba nezimbambo, ezingadala ubunzima bokuphefumula.

Uma ingane yakho inenkinga yokuphefumula ngokujulile noma ukukhwehlela, kuyibeka engcupheni yokwanda kwe-pneumonia. Lokhu ukutheleleka kwamaphaphu okungasongela impilo.

Ukusiza ukusula imigwaqo yomoya yengane yakho nokusekela ukuphefumula kwayo, iqembu lazo lezempilo linganquma:

• I-Manual physiotherapy yesifuba. Umhlinzeki wezokunakekelwa kwempilo ushaya esifubeni sengane yakho futhi usebenzisa ezinye izindlela ukukhulula nokusula amafinyila ezindleleni zawo zomoya.
• Ukudonswa kwe-Oronasal. Ishubhu ekhethekile noma isirinji kufakwa emakhaleni noma emlonyeni wengane yakho futhi kusetshenziselwe ukususa amafinyila ezindleleni zawo zomoya.
• Ukuncishiswa kwemishini / ukweqa ngokweqile kwemishini. Ingane yakho ixhunywe emshinini okhethekile olingisa ukukhwehlela ukukhipha amafinyila ezindleleni zawo zomoya.
• Ukungenisa umoya ngomshini. Isigaxa sokuphefumula noma ithubhu ye-tracheostomy isetshenziselwa ukuxhuma ingane yakho emshinini okhethekile oyisiza ukuba iphefumule.

Kubalulekile futhi ukulandela uhlelo lokugoma olunconyelwe ingane yakho ukwehlisa ubungozi bokutheleleka, okubandakanya umkhuhlane nenyumoniya.

Impilo yokudla okunempilo kanye nokugaya ukudla

I-SMA ingenza kube nzima ezinganeni ukuncela nokugwinya, okunganciphisa amandla azo okudla. Lokhu kungaholela ekukhuleni okungekuhle.

Izingane kanye nabantu abadala abane-SMA nabo bangabhekana nezinkinga zokugaya ukudla, njengokuqunjelwa okungapheli, i-reflux yesisu, noma ukubambezeleka kokukhipha isisu.

Ukwesekela impilo yokudla okunempilo nokugaya ukudla kwengane yakho, iqembu labo lezempilo lingancoma:

• izinguquko ekudleni kwabo
• amavithamini noma amaminerali
• ukondla okungaphakathi, lapho kusetshenziswa khona ithubhu yokondla ukuletha uketshezi nokudla esiswini
• imithi yokwelapha ukuqunjelwa, i-reflux ye-gastroesophageal, noma ezinye izingqinamba zokugaya ukudla

Izingane nezingane ezincane ezine-SMA zisengozini yokukhuluphala. Ngakolunye uhlangothi, izingane ezindala nabantu abadala abane-SMA basengozini yokukhuluphala ngokweqile noma ukukhuluphala ngokweqile ngenxa yamazinga aphansi okusebenza komzimba.

Uma ingane yakho ikhuluphele ngokweqile, iqembu lazo lezempilo lingancoma ushintsho ekudleni noma emikhubeni yabo yokusebenza ngokomzimba.

Amathambo nempilo ehlangene

Izingane kanye nabantu abadala abane-SMA banemisipha ebuthakathaka. Lokhu kunganciphisa ukunyakaza kwabo futhi kubabeke engcupheni yezinkinga ezihlangene, njenge:

• uhlobo lokukhubazeka ngokuhlanganyela okwaziwa ngokuthi izivumelwano
• ukugobeka okungavamile komgogodla, okwaziwa nge-scoliosis
• ukuhlanekezelwa kwezimbambo
• ukukhipha inyonga
• ukuphuka kwamathambo

Ukusiza ukweseka nokwelula imisipha namalunga, ithimba lezokunakekelwa kwempilo yengane yakho linganquma:

• ukwelashwa ngokomzimba
• izingcezu, izinsimbi zokubopha, noma amanye ama-orthoses
• amanye amadivayisi wokusekela ngemuva

Uma ingane yakho inokukhubazeka okuhlangene okuqinile noma ukuphuka, kungadinga ukuhlinzwa.

Njengoba ingane yakho ikhula, ingadinga isihlalo sabakhubazekile noma enye insiza yokusiza ukuzisiza.

Ukusekelwa ngokomzwelo

Ukuphila ngesimo sempilo esibi kungacindezela izingane, kanye nabazali bazo nabanye abanakekeli.

Uma wena noma ingane yakho nibhekene nokukhathazeka, ukudangala, noma ezinye izinselelo zempilo yengqondo, yazisa udokotela wakho.

Bangakudlulisela kuchwepheshe wezempilo yengqondo ukuthola ukwelulekwa noma okunye ukwelashwa. Bangakukhuthaza futhi ukuthi uxhumane neqembu lokusekela labantu abaphila ne-SMA.

Ukuthatha

Yize okwamanje lungekho ikhambi le-SMA, kunezindlela zokwelashwa ezitholakalayo ukusiza ukubambezela ukukhula kwesifo, ukuqeda izimpawu, nokuphatha izinkinga ezingaba khona.

Uhlelo lokwelashwa olunconyelwe ingane yakho luzoya ngezimpawu zalo ezithile kanye nezidingo zokusekelwa. Ukuze ufunde kabanzi ngemithi yokwelashwa etholakalayo, khuluma nethimba labo lokunakekelwa kwezempilo.

Ukwelashwa kusenesikhathi kubalulekile ekukhuthazeni imiphumela engcono kakhulu kubantu abane-SMA.