Umntwana wam une-Spinal Muscular Atrophy: Buza kuba njani uBomi babo?

Umxholo

• Ushwankathelo
• Ukufunda ngohlobo lomntwana wakho lwe-SMA
• Uhlobo lwe-1 (isifo seWerdnig-Hoffman)
• Uhlobo lwe-2 (i-SMA ephakathi)
• Uhlobo lwe-3 (isifo se-Kugelberg-Welander)
• Ezinye iintlobo
• Ukuba sekujikelezeni
• Unyango
• Ukulawula iingxaki
• Ukuphefumla
• Scoliosis
• Esikolweni
• Ukuzivocavoca kunye nemidlalo
• Unyango emsebenzini nasemzimbeni
• Ukutya
• Izinto ozilindile emhlabane
• Umgca wezantsi

Ushwankathelo

Ukukhulisa umntwana onesiphene emzimbeni kunokuba lucelomngeni.

Umqolo we-muscular atrophy (SMA), imeko yemfuza, inokuchaphazela yonke imiba yobomi bemihla ngemihla bomntwana wakho. Umntwana wakho akazukufumana kuphela ixesha elinzima lokuhamba, kodwa uya kuba semngciphekweni weengxaki.

Ukuhlala unolwazi malunga nemeko kubalulekile ukunika umntwana wakho into ayifunayo ukuze aphile ubomi obanelisayo nobusempilweni.

Ukufunda ngohlobo lomntwana wakho lwe-SMA

Ukuqonda indlela i-SMA eya kubuchaphazela ngayo ubomi bomntwana wakho, kufuneka uqale ufunde ngohlobo oluthile lwe-SMA.

Iindidi ezintathu eziphambili ze-SMA zikhula ngexesha lobuntwana. Ngokubanzi, kwangoko umntwana wakho eqala ukuba neempawu, kokukhona imeko iya kuba nzima.

Uhlobo lwe-1 (isifo seWerdnig-Hoffman)

Uhlobo lwe-1 SMA, okanye isifo se-Werdnig-Hoffman, sihlala sifunyaniswa kwiinyanga ezintandathu zokuqala zobomi. Yeyona ixhaphakileyo, kwaye eyona inzima, uhlobo lwe-SMA.

I-SMA ibangelwa kukusilela kokusinda kweprotein ye-motor neuron (SMN). Abantu abane-SMA batshintshile okanye balahlekile I-SMN1 zofuzo kunye namanqanaba asezantsi I-SMN2 zofuzo. Abo bafunyaniswe benohlobo lwe-1 SMA bahlala babini kuphela I-SMN2 zofuzo.

Uninzi lwabantwana abane-1 SMA baya kuphila iminyaka embalwa kuphela ngenxa yeengxaki zokuphefumla. Nangona kunjalo, imeko iyaphucuka ngenxa yenkqubela phambili kunyango.

Uhlobo lwe-2 (i-SMA ephakathi)

Uhlobo lwe-2 SMA, okanye i-SMA ephakathi, ihlala ichongwa phakathi kweminyaka eyi-7 ukuya kwi-18 yeenyanga. Abantu abane-2 SMA banesithathu okanye nangaphezulu I-SMN2 zofuzo.

Abantwana abane-2 SMA abayi kukwazi ukuzimela kwaye baya kuba nobuthathaka kwiimisipha zeengalo zabo kunye nemilenze. Kananjalo banokuba buthathaka nezihlunu zokuphefumla.

Uhlobo lwe-3 (isifo se-Kugelberg-Welander)

Uhlobo lwe-3 SMA, okanye isifo se-Kugelberg-Welander, sihlala sifunyaniswa sineminyaka emi-3 kodwa ngamanye amaxesha sinokuvela kamva ebomini. Abantu abane-3 SMA banesine ukuya kwisibhozo I-SMN2 zofuzo.

Uhlobo lwe-3 SMA lungaphantsi kuneentlobo 1 no-2. Umntwana wakho unokuba nengxaki yokuma, ukulungelelanisa, ukusebenzisa izinyuko, okanye ukubaleka. Banokuphulukana namandla okuhamba kamva ebomini.

Ezinye iintlobo

Nangona kunqabile, zininzi ezinye iindlela ze-SMA ebantwaneni. Enye yezo fom ye-spinal muscular atrophy enexinzelelo lokuphefumla (SMARD). Ifunyenwe kwiintsana, i-SMARD inokukhokelela kwiingxaki zokuphefumla ezinzima.

Ukuba sekujikelezeni

Abantu abane-SMA abanakho ukuhamba okanye ukuzimela, okanye baphulukane namandla abo okwenza oko kamva ebomini.

Abantwana abane-2 SMA kuya kufuneka basebenzise isitulo esinamavili ukuhamba. Abantwana abanohlobo lwe-3 SMA banakho ukuhamba kakuhle ebudaleni.

Zininzi izixhobo zokunceda abantwana abancinci ukuba beme kobuthathaka bemisipha kwaye bajikeleze, ezinje ngezitulo ezinamavili ezinamandla okanye ezenziwa ngesandla. Ezinye iintsapho zide zenzele izitulo zabakhubazekile zabantwana bazo.

Unyango

Zimbini iindlela zonyango ezifumanekayo ezikhoyo kubantu abane-SMA.

INusinersen (Spinraza) yamkelwe nguLawulo lokutya kunye noLawulo lweziyobisi (FDA) ukuba isetyenziswe ebantwaneni nasebantwini abadala. Iyeza lifakwe kulwelo olujikeleze intambo yomqolo. Iphucula ulawulo lwentloko kunye nokukwazi ukukhasa okanye ukuhamba, phakathi kwezinye izinto ezihamba phambili kwiintsana nakwabanye abaneentlobo ezithile ze-SMA.

Olunye unyango oluvunyiweyo lwe-FDA luyi-onasemnogene abeparvovec (iZolgensma). Yenzelwe abantwana abangaphantsi kweminyaka emi-2 ubudala kunye neentlobo eziqhelekileyo ze-SMA.

Iyeza elifakwa ngaphakathi, lisebenza ngokuhambisa ikopi esebenzayo ye I-SMN1 yemfuza ekujolise kuyo kwiiseli zemoto ye-neuron. Oku kukhokelela ekusebenzeni okungcono kwemisipha kunye nokuhamba.

Iidosi ezine zokuqala zeSpinraza zilawulwa ngaphezulu kweentsuku ezingama-72. Emva koko, iidosi zolondolozo lwamayeza zenziwa rhoqo kwiinyanga ezine. Abantwana kwi-Zolgensma bafumana idosi yexesha elinye lamayeza.

Thetha nogqirha womntwana wakho ukufumanisa ukuba ingaba iyeza lilungile na kubo. Olunye unyango kunye nonyango olunokuzisa isiqabu kwi-SMA lubandakanya ukuphumla kwemisipha kunye noomatshini, okanye ukuncediswa, komoya.

Ukulawula iingxaki

Iingxaki ezimbini ekufuneka uzazi yimicimbi yokuphefumla kunye nokujika komqolo.

Ukuphefumla

Kubantu abane-SMA, buthathaka imisipha yokuphefumla yenza ukuba kube nzima ukuba umoya wenze indlela yawo ngaphakathi nangaphandle kwemiphunga yabo. Umntwana one-SMA ukwasemngciphekweni omkhulu wokufumana izifo ezosulelayo zokuphefumla.

Ubuthathaka bemisipha yokuphefumla ngokubanzi ngunobangela wokufa kwabantwana abanohlobo 1 okanye 2 SMA.

Umntwana wakho unokufuna ukuba abekwe esweni ukuphefumla. Kwimeko apho, i-oximeter yokubetha ingasetyenziselwa ukulinganisa inqanaba lokugcwalisa ioksijini egazini labo.

Abantu abaneendlela ezincinci ze-SMA banokuzuza kwinkxaso yokuphefumla. Ukungenisa umoya okungafunekiyo (i-NIV), ehambisa umoya wegumbi emiphungeni ngomlomo okanye imaski, kunokufuneka.

Scoliosis

I-Scoliosis ngamanye amaxesha ikhula kubantu abane-SMA kuba izihlunu ezixhasa umqolo wazo zihlala zibuthathaka.

I-Scoliosis ngamanye amaxesha inokungonwabi kwaye inokuba nefuthe elibonakalayo ekuhambeni. Iyaphathwa ngokusekwe kubukrakra begophe lomqolo kunye nokuba nokwenzeka kwimeko yokuphucula okanye ukuwohloka ngokuhamba kwexesha.

Ngenxa yokuba bekhula, abantwana abancinci banokufuna kuphela isihlangu. Abantu abadala abane-scoliosis banokufuna amayeza entlungu okanye uqhaqho.

Esikolweni

Abantwana abane-SMA banengqondo eqhelekileyo kunye nophuhliso lweemvakalelo. Abanye banobukrelekrele obungaphezulu komndilili. Khuthaza umntwana wakho ukuba athathe inxaxheba kwizinto ezininzi ezifanelekileyo ngokweminyaka.

Igumbi lokufundela yindawo apho umntwana wakho anokugqwesa, kodwa basenokufuna uncedo ekulawuleni umthwalo wabo. Ngokuqinisekileyo baya kufuna uncedo olukhethekileyo ngokubhala, ukupeyinta, kunye nokusebenzisa ikhompyuter okanye umnxeba.

Uxinzelelo lokufuna ukwamkeleka kunokuba lucelomngeni xa unesiphene emzimbeni. Ukucebisa kunye nokunyanga kungadlala indima enkulu ekuncedeni umntwana wakho ukuba azive ekhululekile kwiindawo zentlalo.

Ukuzivocavoca kunye nemidlalo

Ukuba nesiphene emzimbeni akuthethi ukuba umntwana wakho akanakuthatha inxaxheba kwezemidlalo nakweminye imisebenzi. Ngapha koko, ugqirha womntwana wakho uya kubakhuthaza ukuba babandakanyeke kwimithambo yomzimba.

Ukuzilolonga kubalulekile kwimpilo ngokubanzi kwaye kunokuphucula umgangatho wobomi.

Abantwana abane-3 SMA banokwenza ezona zinto zibalulekileyo zomzimba, kodwa banokudinwa. Enkosi ngokuhambela phambili kubuchwephesha bezitulo zamavili, abantwana abane-SMA banokonwabela imidlalo ehambelana nezihlalo ezinamavili, njengebhola ekhatywayo okanye intenetya.

Umsebenzi odumileyo wabantwana abaneentlobo ze-2 kunye ne-3 ze-SMA ziqubha echibini elishushu.

Unyango emsebenzini nasemzimbeni

Xa undwendwele ugqirha osebenza emsebenzini, umntwana wakho uya kufunda imithambo ukuze abancede benze imisebenzi yemihla ngemihla, enjengokunxiba.

Ngexesha lonyango lomzimba, umntwana wakho angafunda iindlela ezahlukeneyo zokuphefumla ukunceda ukomeleza izihlunu zokuphefumla. Banokwenza nokusebenza okuqhelekileyo kokunyakaza.

Ukutya

Isondlo esifanelekileyo sibalulekile kubantwana abane-1 SMA yohlobo. I-SMA inokuchaphazela izihlunu ezisetyenziselwa ukuncanca, ukuhlafuna kunye nokuginya. Umntwana wakho unokungondleki ngokulula kwaye unokufuna ukondliwa ngombhobho wegastrostomy. Thetha nesondlo ukuze ufunde okungakumbi malunga neemfuno zokutya komntwana wakho.

Ukutyeba kakhulu kunokuba yinkxalabo yabantwana abanee-SMA ezihlala ngaphaya kobuntwana, kuba banako ukungasebenzi kunabantwana abangenazo ii-SMA. Kukho izifundo ezimbalwa ukuza kuthi ga ngoku ukucebisa ukuba naluphi na uhlobo oluthile lokutya luncedo ekuthinteleni okanye ekunyangeni ukutyeba kakhulu kubantu abane-SMA. Ngaphandle kokutya kakuhle kunye nokuphepha iikhalori ezingafunekiyo, akukacaci ukuba ukutya okhethekileyo okujolise ekutyebeni kuyanceda kubantu abane-SMA.

Izinto ozilindile emhlabane

Ixesha lokuphila kubuntwana-ukuqala kweSMA kuyahluka.

Uninzi lwabantwana abane-1 SMA baya kuphila iminyaka embalwa. Nangona kunjalo, abantu abaye baphathwa ngamachiza amatsha e-SMA babone ukuphucuka okuthembisayo kumgangatho wabo wobomi-kunye nexesha lokuphila.

Abantwana abanezinye iintlobo ze-SMA banokuphila ixesha elide ebudaleni baze baphile ubomi obusempilweni nobonelisayo.

Umgca wezantsi

Akukho bantu babini bane-SMA abafanayo ngokuchanekileyo. Ukwazi ukuba ulindele ntoni kunokuba nzima.

Umntwana wakho uya kufuna iqondo elithile loncedo kwimisebenzi yemihla ngemihla kwaye uya kufuna unyango lomzimba.

Kuya kufuneka uthathe inxaxheba ekulawuleni iingxaki kwaye unike umntwana wakho inkxaso abayifunayo. Kubalulekile ukuhlala unolwazi ngangokunokwenzeka kwaye usebenze kunye neqela lonyango.

Gcina ukhumbule ukuba awuwedwa. Uninzi lwezixhobo ziyafumaneka kwi-Intanethi, kubandakanya ulwazi ngamaqela enkxaso kunye neenkonzo.