Ingane Yami Ine-Spinal Muscular Atrophy: Izokuba Njani Impilo Yabo?

-Delile

• Ukubuka konke
• Ukufunda ngohlobo lwe-SMA yengane yakho
• Thayipha 1 (Isifo seWerdnig-Hoffman)
• Thayipha 2 (SMA ephakathi)
• Thayipha i-3 (isifo se-Kugelberg-Welander)
• Ezinye izinhlobo
• Ukuzulazula
• Ukwelashwa
• Ukuphatha izinkinga
• Ukuphefumula
• I-Scoliosis
• Eskoleni
• Ukuzivocavoca kanye nezemidlalo
• Ukwelashwa emsebenzini nasemzimbeni
• Ukudla
• Isikhathi sokuphila
• Okubalulekile

Ukubuka konke

Ukukhulisa ingane ekhubazekile kungaba yinselele.

I-Spinal muscular atrophy (SMA), isimo sofuzo, singathinta zonke izici zempilo yansuku zonke yengane yakho. Ingane yakho ngeke nje ibe nesikhathi esinzima sokuhamba, kodwa futhi izoba sengozini yezinkinga.

Ukuhlala unolwazi ngalesi simo kubalulekile ukunikeza ingane yakho lokho ekudingayo ukuze iphile impilo egculisayo nenempilo.

Ukufunda ngohlobo lwe-SMA yengane yakho

Ukuqonda ukuthi i-SMA izokuthinta kanjani impilo yengane yakho, okokuqala kudingeka ufunde ngohlobo lwayo oluthile lwe-SMA.

Izinhlobo ezintathu eziyinhloko ze-SMA zikhula ngesikhathi sobuntwana. Ngokuvamile, lapho ingane yakho iqala ukuba nezimpawu, isimo sayo siyoba sibi ngokwengeziwe.

Thayipha 1 (Isifo seWerdnig-Hoffman)

Uhlobo lwe-1 SMA, noma isifo se-Werdnig-Hoffman, luvame ukutholakala ezinyangeni eziyisithupha zokuqala zokuphila. Luhlobo lwe-SMA oluvame kakhulu, futhi olunzima kakhulu.

I-SMA ibangelwa ukuntuleka kokusinda kweprotheni ye-motor neuron (SMN). Abantu abane-SMA bashintshile noma abalahlekile I-SMN1 izakhi zofuzo namazinga aphansi we I-SMN2 izakhi zofuzo. Labo abatholakala benohlobo lwe-1 SMA ngokuvamile banezimbili kuphela I-SMN2 izakhi zofuzo.

Izingane eziningi ezine-type 1 SMA zizophila iminyaka embalwa kuphela ngenxa yezinkinga zokuphefumula. Kodwa-ke, umbono uyathuthuka ngenxa yentuthuko ekwelashweni kwezokwelapha.

Thayipha 2 (SMA ephakathi)

Thayipha i-2 SMA, noma i-SMA ephakathi, ivame ukutholakala iphakathi kweminyaka engu-7 nengu-18 ubudala. Abantu abane-type 2 SMA ngokuvamile banezintathu noma ngaphezulu I-SMN2 izakhi zofuzo.

Izingane ezine-type 2 SMA ngeke zikwazi ukuzimela futhi zizoba nobuthakathaka emisipheni yezingalo nemilenze yazo. Kungenzeka futhi babe nemisipha yokuphefumula ebuthakathaka.

Thayipha i-3 (isifo se-Kugelberg-Welander)

Uhlobo lwe-3 SMA, noma isifo se-Kugelberg-Welander, luvame ukutholakala ngeminyaka engu-3 kepha kwesinye isikhathi lungavela kamuva empilweni. Abantu abane-type 3 SMA ngokuvamile bane ezine kuya kweziyisishiyagalombili I-SMN2 izakhi zofuzo.

Uhlobo lwe-3 SMA luncane kunezinhlobo 1 no-2. Ingane yakho ingaba nenkinga yokuma, ukulinganisa, ukusebenzisa izitebhisi, noma ukugijima. Bangalahlekelwa namandla okuhamba kamuva empilweni.

Ezinye izinhlobo

Yize kungavamile, kunezinye izinhlobo eziningi ze-SMA ezinganeni. Enye indlela enjalo i-spinal muscular atrophy enesifo sokuphefumula (SMARD). Ihlolwe ezinganeni, i-SMARD ingaholela ezinkingeni zokuphefumula ezinzima.

Ukuzulazula

Abantu abane-SMA kungenzeka bangakwazi ukuzihambela noma bazimele bodwa, noma bangahle balahlekelwe yikhono labo lokwenza kanjalo kamuva empilweni.

Izingane ezine-type 2 SMA kuzofanele zisebenzise isihlalo esinamasondo ukuzulazula. Izingane ezine-type 3 SMA zingakwazi ukuhamba kahle ziye ebudaleni.

Kunamadivayisi amaningi okusiza izingane ezincane ezinokuqina kobuthakathaka ukuma nokuhambahamba, ezinjengezihlalo ezinamasondo ezinamasondo ezinamandla noma ngesandla. Eminye imindeni yaze yakhela izingane zayo izihlalo ezinamasondo ezijwayelekile.

Ukwelashwa

Kukhona izindlela ezimbili zokwelapha ezitholakala kubantu abane-SMA.

INusinersen (Spinraza) ivunyelwe yi-Food and Drug Administration (FDA) ukuthi isetshenziswe ezinganeni nakubantu abadala. Imithi ijojowe kuketshezi oluzungeze umgogodla. Ithuthukisa ukulawula ikhanda nekhono lokukhasa noma lokuhamba, phakathi kwezinye izigaba zokuhamba ezinganeni nakwezinye izinhlobo ezithile ze-SMA.

Enye indlela yokwelashwa evunyelwe yi-FDA yi-onasemnogene abeparvovec (Zolgensma). Yenzelwe izingane ezingaphansi kweminyaka engu-2 ngezinhlobo ezivame kakhulu ze-SMA.

Umuthi ofakwa ngaphakathi, usebenza ngokuletha ikhophi elisebenzayo le- I-SMN1 zofuzo kumaseli wezinhloso zemoto ezibhekiswe enganeni. Lokhu kuholela ekusebenzeni okungcono kwemisipha nasekuhambeni.

Imithamo emine yokuqala yeSpinraza iphathwa esikhathini esiyizinsuku ezingama-72. Ngemuva kwalokho, imithamo yokugcinwa kwemithi inikezwa njalo ezinyangeni ezine. Izingane ze-Zolgensma zithola umthamo wesikhathi esisodwa somuthi.

Khuluma nodokotela wengane yakho ukuze unqume ukuthi ngabe umuthi ubalungele yini. Ezinye izindlela zokwelashwa ezingaletha ukukhululeka ku-SMA zifaka ukuphumula kwemisipha kanye nomoya owenziwe ngomshini, noma osiziwe.

Ukuphatha izinkinga

Izinkinga ezimbili okufanele wazi ngazo yizinkinga zokuphefumula nokugobeka komgogodla.

Ukuphefumula

Kubantu abane-SMA, imisipha yokuphefumula ebuthakathaka yenza kube inselele emoyeni ukungena nokungena emaphashini abo. Ingane ene-SMA nayo isengozini enkulu yokuthola izifo ezinzima zokuphefumula.

Ubuthakathaka bemisipha yokuphefumula imvamisa kuyimbangela yokufa ezinganeni ezinohlobo 1 noma 2 SMA.

Ingane yakho ingadinga ukuthi ihlolwe ukucindezeleka kokuphefumula. Kuleso simo, i-oximeter ye-pulse ingasetshenziswa ukukala izinga lokugcwaliswa komoya-mpilo egazini labo.

Abantu abanezinhlobo ezingaphansi kakhulu ze-SMA bangazuza ekusekelweni kokuphefumula. Ukuphefumula okungavumelekile (i-NIV), okuletha umoya wasekamelweni emaphashini ngomlomo noma ngesifihla-buso, kungadingeka.

I-Scoliosis

I-Scoliosis kwesinye isikhathi iba nabantu abane-SMA ngoba imisipha esekela umgogodla wayo ivame ukuba buthakathaka.

I-Scoliosis kwesinye isikhathi ingangakhululeki futhi ingaba nomthelela omkhulu ekuhambeni. Ilashwa ngokuya ngobukhulu bejika lomgogodla kanye namathuba okuba isimo sithuthuke noma sibe sibi ngokuhamba kwesikhathi.

Ngoba zisakhula, izingane ezincane zingadinga kuphela isibopho. Abantu abadala abane-scoliosis bangadinga imithi yezinhlungu noma ukuhlinzwa.

Eskoleni

Izingane ezine-SMA zikhula ngokujwayelekile ngokomqondo nangokomzwelo. Abanye baze babe nokuhlakanipha okungaphezu kwesilinganiso. Khuthaza ingane yakho ukuthi ibambe iqhaza emisebenzini efanele iminyaka yobudala ngangokunokwenzeka.

Igumbi lokufundela liyindawo lapho ingane yakho ingaphumelela khona, kepha isengadinga usizo ekulawuleni umthwalo wayo wokusebenza. Cishe bazodinga usizo olukhethekile ngokubhala, ukudweba, nokusebenzisa ikhompyutha noma ifoni.

Ingcindezi yokungena ungaba yinselele uma ukhubazekile emzimbeni. Ukwelulekwa nokwelashwa kungadlala indima enkulu ekusizeni ingane yakho ukuthi izizwe ikhululeke kakhudlwana ezindaweni zomphakathi.

Ukuzivocavoca kanye nezemidlalo

Ukuba nokukhubazeka ngokomzimba akusho ukuthi ingane yakho ayikwazi ukubamba iqhaza kwezemidlalo nakweminye imisebenzi. Eqinisweni, udokotela wengane yakho cishe uzobakhuthaza ukuthi bahlanganyele ekuzivocavoca umzimba.

Ukuzivocavoca umzimba kubalulekile empilweni ejwayelekile futhi kungakhuphula izinga lempilo.

Izingane ezine-type 3 SMA zingenza imisebenzi yomzimba kakhulu, kepha zingakhathala. Ngenxa yokuthuthuka kwezobuchwepheshe besihlalo sabakhubazekile, izingane ezine-SMA zingayijabulela imidlalo ehambisana nezihlalo ezinamasondo, njengebhola likanobhutshuzwayo noma ithenisi.

Umsebenzi odume kakhulu wezingane ezinezinhlobo 2 no-3 SMA ubhukuda echibini elifudumele.

Ukwelashwa emsebenzini nasemzimbeni

Ekuhambeleni nodokotela osebenza emsebenzini, ingane yakho izofunda ukuzivocavoca ukubasiza benze imisebenzi yansuku zonke, njengokugqoka.

Ngesikhathi sokwelashwa ngokomzimba, ingane yakho ingafunda izindlela ezahlukahlukene zokuphefumula ukusiza ukuqinisa imisipha yabo yokuphefumula. Bangase futhi benze izivivinyo zokunyakaza ezivamile.

Ukudla

Ukudla okunempilo okufanele kubaluleke kakhulu ezinganeni ezine-1 SMA yohlobo. I-SMA ingathinta imisipha esetshenziselwa ukuncela, ukuhlafuna nokugwinya. Ingane yakho ingadla kalula futhi ingadinga ukondliwa ngepayipi le-gastrostomy. Khuluma nesazi sokudla ukuze ufunde kabanzi ngezidingo zokudla kwengane yakho.

Ukukhuluphala ngokweqile kungakhathaza izingane ezine-SMA ezihlala ngaphezu kobuntwana, njengoba zingakwazi ukusebenza kakhulu kunezingane ezingenayo i-SMA. Kube nezifundo ezimbalwa kuze kube manje ukuphakamisa ukuthi noma yikuphi ukudla okuthile kuyasiza ekuvimbeleni noma ekwelapheni ukukhuluphala kubantu abane-SMA.Ngaphandle kokudla kahle nokugwema amakhalori angenasidingo, akukacaci ukuthi ukudla okukhethekile okubhekise ukukhuluphala kuyasiza yini kubantu abane-SMA.

Isikhathi sokuphila

Isikhathi sokuphila se-SMA ebuntwaneni siyahlukahluka.

Iningi lezingane ezine-type 1 SMA zizophila iminyaka embalwa kuphela. Kodwa-ke, abantu abaphathwe ngemithi emisha ye-SMA babone ukuthuthuka okuthembisayo kwikhwalithi yabo yempilo - kanye nesikhathi sokuphila.

Izingane ezinezinye izinhlobo ze-SMA zingaphila isikhathi eside ziye ebudaleni futhi ziphile impilo enempilo, nenelisayo.

Okubalulekile

Abekho abantu ababili abane-SMA abafana ncamashi. Ukwazi ukuthi yini ongayilindela kungaba nzima.

Ingane yakho izodinga usizo oluthile ngemisebenzi yansuku zonke futhi kungenzeka idinge ukwelashwa ngokomzimba.

Kufanele usebenze ekuphatheni izinkinga futhi unikeze ingane yakho ukwesekwa abakudingayo. Kubalulekile ukuhlala unolwazi ngangokunokwenzeka futhi usebenze kanye neqembu lokunakekelwa kwezokwelapha.

Khumbula ukuthi awuwedwa. Izinsizakusebenza eziningi ziyatholakala ku-inthanethi, kufaka phakathi imininingwane ngamaqembu okusekela nezinsizakalo.