Ngaba wakha waqaphela ukuba umntwana wakho uyatyibilika kancinci, okanye ukuba ucotha kancinci ukuphakamisa intloko yakhe okanye ukuqengqeleka njengabanye abantwana? Ngamanye amaxesha, kuyinto eqhelekileyo kuthi njengabazali ukuba sikhathazeke kancinci xa sibona umntwana omncinci ebaleka, ewa, okanye enengxaki yokunyuka izinyuko. Nangona ezi mpawu zingasoloko ziluphawu lwento enzulu, ngamanye amaxesha kukho imeko engaqhelekanga emva kwazo esifanele siyiqaphele. Oko kukuwohloka kwemisipha yomqolo, okanye oko sikubiza ngokwezonyango ngokuthi ' i-Spinal Muscular Atrophy (SMA)'.
Kalula nje, yintoni le SMA?
I-Spinal Muscular Atrophy (SMA) yimeko engaqhelekanga yemfuza ebangela ukuba izihlunu eziziintlobo ngeentlobo, eziziimisipha esizilawulayo ukuba zishukume, zibe buthathaka kancinci kancinci. Ichaphazela kakhulu iiseli zemithambo-luvo ezikwinxalenye esezantsi yomqolo wethu.
Cinga ngale ndlela. Ingqondo yethu kunye nomqolo wethu zithumela isignali yombane, okanye umyalezo, kwimisipha yethu ukuze "ishukume." Lo myalezo uthwalwa ziiseli zemithambo-luvo ezikhethekileyo ezibizwa ngokuba zii-motor neurons. Ukuze ezi seli zemithambo-luvo zihlale ziphilile, iproteni ebizwa ngokuba yi-"Survival Motor Neuron" (SMN) eveliswa yijini ebizwa ngokuba yi-SMN1 ibalulekile.
Kumntu one-SMA, ngenxa yesiphene kwi-gene ethi `SMN1`, iproteni ethi `SMN` ayiveliswa ngomlinganiselo ofunekayo. Xa le proteni ilahlekile, iiseli zemithambo-luvo (ii-motor neurons) ezithwala loo miyalezo ziyafa kancinci kancinci. Emva koko izihlunu azifumani zimpawu zifunekayo. Izihlunu ezingasetyenziswayo ziyancipha kancinci kancinci zibe buthathaka. Oku sikubiza ngokuba yi-muscle atrophy .
Into ebalulekileyo kukuba i-SMA ayichaphazeli ingqondo yomntwana, ukuqonda, okanye uvelwano . Bayaqonda kwaye bayaliqonda ihlabathi elibangqongileyo ngokugqibeleleyo. Yimisipha kuphela ebuthathaka.
Ziziphi iimpawu kunye neentlobo ze-SMA?
Iimpawu ze-SMA ziyahluka kumntu nomntu. Zixhomekeke ekubeni ingakanani iproteni ye-'SMN' eveliswa emzimbeni. Ukongeza kwi-gene ephambili ebizwa ngokuba yi-'SMN1', sikwanayo ne-'helper' gene ebizwa ngokuba yi-'SMN2'. Le gene ye-'SMN2' ikwavelisa isixa esithile seproteni ye-'SMN'. Okukhona umntu enekopi ezininzi ze-gene ye-'SMN2', kokukhona iimpawu ziba lula.
I-SMA yahlulwe yaba ziintlobo ezi-5 eziphambili ngokusekwe kwiminyaka apho iimpawu zibonakala khona.
| Uhlobo lwe-SMA | Ubudala bokuqala kweempawu | Iimpawu eziqhelekileyo |
|---|---|---|
| Uhlobo 0 | Ngaphambi kokuzalwa (kwinqanaba lokukhulelwa) | Ukuncipha kokushukuma kosana olusandul’ ukuzalwa, ubuthathaka obukhulu bemisipha xa luzalwa, ukuphelelwa ngamandla emzimbeni, ubunzima bokuphefumla, kunye nesifo sentliziyo esizalwa naso. Olu lolona hlobo lungaqhelekanga nolunzima. |
| Uhlobo 1 (Isifo sikaWernig-Hoffman) | Ukususela ekuzalweni ukuya kwiinyanga ezi-6 | Ukungakwazi ukubamba intloko ime nkqo, ukungakwazi ukuhlala ngaphandle koncedo, amalungu abuthathaka, ubunzima bokuncanca nokuginya, ukukhala okubuthathaka, ubunzima bokuphefumla (isifuba esimile okwentsimbi). |
| Uhlobo 2 (Isifo saseDubowitz) | Ukususela kwiinyanga ezi-3 ukuya kwezili-15 | Ukukwazi ukuhlala phantsi nokuba uncediswa okanye awuncediswa (kodwa unokulibaziseka), ukungakwazi ukuma okanye ukuhamba ngaphandle koncedo, ukuba nomqolo ogobileyo (i-scoliosis), ubunzima bokuphefumla. |
| Uhlobo 3 (Isifo saseKugelberg-Welander) | Ukususela kwiinyanga ezili-18 ukuya kutsho ekubeni ngumntu omdala | Ukukwazi ukuhamba, kodwa kunzima ukubaleka, ukunyuka izinyuko, ukuwa rhoqo, kufuna uncedo lokuphuma esitulweni. Isihlalo esinamavili sinokufuneka njengoko ukhula. |
| Uhlobo 4 | Ebudaleni (emva kweminyaka engama-30 ubudala) | Zonke iziganeko zokukhula ziqhelekile, ubuthathaka obuncinci bemisipha (ingakumbi emilenzeni), kunye nokuziva ngathi imisipha iyashukuma. Akufuneki ukuba nesihlalo esinamavili. |
Yintoni ebangela i-SMA?
I-SMA yimeko yemfuza edluliselwa kwizizukulwana ngezizukulwana. Ngokuchanekileyo, izuzwa njengempawu 'ye-autosomal recessive'. Kuthetha ukuthini oko?
Ngamafutshane, ukuze umntwana abe ne-SMA, bobabini abazali kufuneka bafumane ikopi ye-gene ye-SMN1 enesiphene. Ukuba ngumzali omnye kuphela ofumana i-gene enesiphene, umntwana akayi kuba ne-SMA. Nangona kunjalo, umntwana uya kuba "ngumthwali" wesifo. Oku kuthetha ukuba umntwana akayi kuba nazimpawu, kodwa uya kukwazi ukudlulisela i-gene enesiphene kubantwana bakhe kwixesha elizayo.
Indlela yokuxilonga ngokuchanekileyo isifo?
Njengamazwe amaninzi namhlanje, iintsana ezisandul’ ukuzalwa ngamanye amaxesha ziyahlolwa izifo zemfuza ezifana nezi eSri Lanka. Nangona kunjalo, ngamanye amaxesha, ingakumbi ezo zineempawu ezingephi, zifunyanwa kamva.
Ukuba unenkxalabo ngomntwana wakho, ugqirha unokubuza imibuzo efana nale xa umbona:
- Ingaba umntwana wakho uphumelele emva kwexesha elingakanani kwimiba yokukhula efana nokuphakamisa intloko yakhe aze aqengqeleke?
- Ngaba kunzima kumntwana ukuhlala okanye ukuma yedwa?
- Ngaba ukhe waqaphela ukuba kukho ubunzima bokuphefumla?
- Uqale nini ukuqaphela ezi mpawu?
- Ngaba kukho umntu oye waba nezi mpawu kusapho lwakho ngaphambili?
Ukongeza kule mibuzo, kunokwenziwa ezi mvavanyo zilandelayo ukuqinisekisa isifo:
- Uvavanyo lwemfuza: Kuthathwa isampuli yegazi kwaye i-`SMN1` gene ivavanywa ngqo ukuze kubonwe ukuba ayinaziphene okanye ayikho. Olu lolona vavanyo luphambili lokuqinisekisa isifo.
- Uvavanyo lwegazi lweCreatine Kinase (CK): Xa izihlunu ziba buthathaka, i-enzyme ebizwa ngokuba yi-CK iyaqokelelana egazini. Ukuba oku kuphezulu, kunokucingelwa ukuba kukho umonakalo kwizihlunu.
- Uvavanyo lweMithambo : Uvavanyo olufana ne-Electromyogram (EMG) lujonga indlela imithambo-luvo ethumela ngayo imiyalezo kwimisipha.
- I-MRI okanye i-CT scan: Fumana imifanekiso eneenkcukacha zangaphakathi lomzimba, ingakumbi umqolo kunye nezihlunu.
- I-Biopsy yeMisipha: Ngamanye amaxesha, iqhekeza elincinci lemisipha liyathathwa lize lihlolwe phantsi kwe-microscope ukuqinisekisa uhlobo lomonakalo.
Ziziphi iindlela zonyango ze-SMA?
Kwiminyaka elishumi ukuya kwelishumi elinesihlanu eyadlulayo, i-SMA yayinonyango oluxhasayo kuphela olwalulawula iimpawu. Nangona kunjalo, namhlanje, ngokuhambela phambili kwesayensi yezonyango, kukho unyango oluninzi olusebenzayo kakhulu kwihlabathi olujolise kwingxaki yemfuza ebangela i-SMA.
1. Inkathalo Exhasayo
Nangona ezi zinto zingasinyangi esi sifo, zibalulekile ekuphuculeni umgangatho wobomi bomntwana.
- Inkxaso yokuphefumla: Ingakumbi kwiintlobo 1 kunye nezesi-2, njengoko izihlunu zokuphefumla ziba buthathaka, imaski ekhethekileyo okanye, kwiimeko ezinzima, umatshini (i-ventilator) wokunceda ekuphefumleni unokufuneka.
- Isondlo kunye nokuginya: Ngenxa yokuba izihlunu zokuginya zibuthathaka, uncedo lwengcali yesondlo luyadingeka ukuqinisekisa ukuba umntwana ufumana isondlo esifanelekileyo. Abanye abantwana kufuneka bondliwe ngetyhubhu yokondla.
- Ukushukuma kunye noNyango lweMithambo: Ukuzilolonga ngonyango lomzimba kunokunceda ukukhusela amalungu kunye nokugcina izihlunu ziqinile. Ukuba kuyimfuneko, ungasebenzisa izixhobo zokuxhasa imilenze, isixhobo sokuhamba, okanye isitulo esinamavili esisebenza ngombane.
- Iingxaki zomqolo: Kubantwana abane-scoliosis, ugqirha unokucebisa ukunxiba i-corset ekhethekileyo (i-back brace) ukuze umqolo uthe tye.
2. Unyango olujolise kwiZizakhi zofuzo
La ngamayeza atshintshe indlela esetyenziswa ngayo i-SMA.
- I-Nusinersen (iSpinraza): Eli yeza linikwa njengenaliti kulwelo lomqolo. Lisebenza ngokuvuselela i-"helper" gene, i-SMN2, esithethe ngayo ngaphambili, kwaye ibangele ukuba yenze iproteni ye-SMN engaphezulu. Kufuneka ithathwe rhoqo kwiinyanga ezimbalwa.
- I-Onasemnogene abeparvovec-xioi (Zolgensma): Olu lunyango lwezakhi zofuzo olunikwa ngemithambo kube kanye. Luthatha indawo yezakhi zofuzo ze-SMN1 ezinesiphako ngekopi ephilileyo yezakhi zofuzo ze-SMN1. Ngokuqhelekileyo lunikwa abantwana abangaphantsi kweminyaka emi-2 ubudala.
- I-Risdiplam (Evrysdi): Eli liyeza lolwelo elithathwa imihla ngemihla elikwasebenza ngokunyusa imveliso yeproteni ye-`SMN` evela kwi-`SMN2` gene.
Nangona olu nyango lubiza kakhulu, lubonakalisile ukuba luphucula kakhulu imigangatho yokukhula kwabantwana (ukubamba intloko, ukuhlala phantsi) kwaye lulawula ukuqhubela phambili kwesifo. Kufuneka uxoxe nogqirha wakho ukuba loluphi unyango olulungele umntwana wakho.
Umyalezo Wokuya Ekhaya
- I-SMA sisifo semfuza esenza izihlunu zibe buthathaka. Nangona kunjalo, ayichaphazeli ingqondo yomntwana .
- Ubunzima beempawu buyahluka ngokweentlobo ngeentlobo. Abanye abantwana baba neempawu xa bezalwa, ngelixa abanye bengabonakali benazo de babe badala.
- Ukuze umntwana abe ne-SMA, kufuneka azuze ilifa le-gene enesiphene kumama nakutata wakhe .
- Namhlanje, kukho iindlela zonyango zanamhlanje ezijolise kwingxaki yemfuza ebangela esi sifo. Ezi zinokulawula esi sifo kwaye ziphucule umgangatho wobomi.
- Ukunyamekela umntwana one-SMA ngumzamo weqela. Kufuna inkxaso yeqela leengcali , kuquka iingcali zemithambo-luvo, iingcali zemiphunga, iingcali zonyango lomzimba, kunye neengcali zesondlo.Kubalulekile. Awuwedwa, kwaye ungoyiki ukucela uncedo.
- Ukuba unenkxalabo malunga nokukhula okanye iintshukumo zomntwana wakho, thetha nogqirha wakho ngoko nangoko . Okukhona isifo sifunyanwa ngokukhawuleza, kokukhona unyango lunokuba nempumelelo.
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