Ngaba ukhe waphawula ukuba umntwana wakho omncinci uyasokola kwaye uhambisa amalungu akhe ngaphantsi kwabanye abantwana? Ngaba kunzima kuye ukubamba intamo yakhe ithe tye? Okanye ngaba umntwana wakho omdala ubonakala enengxaki yokuhamba, ukubaleka, okanye ukutsiba, kwaye umzimba wakhe uya usiba buthathaka ngakumbi? Kuqhelekile kuwe, njengomama okanye utata, ukuziva uloyiko kunye nexhala xa ubona ezi zinto. Namhlanje sithetha ngesifo esinokubangela iimpawu ezinjalo, kodwa akuthethwa kakhulu ngaso kwilizwe lethu, kodwa kubaluleke kakhulu ukuqaphela. Leyo yi -Spinal Muscular Atrophy , esibizwa ngoogqirha (SMA) ngamafutshane.
Kalula nje, yintoni le SMA?
I-Spinal Muscular Atrophy (SMA) sisifo esibangelwa lufuzo (esizuzwe njengelifa) . Oko kukuthi, yinto edluliselwa kubazali ukuya ebantwaneni. Esi sifo sichaphazela inkqubo yemithambo-luvo yomzimba wethu, sibangela ukuba izihlunu zethu zibe buthathaka kwaye ziphele kancinci kancinci. Kwizonyango, sibiza oku ngokuthi yi-atrophy .
Masiyiqonde le nto ngokulula. Khawucinge ukuba izihlunu zomzimba wethu zifana neebhalbhu zokukhanya. Ukuze ezi bhalbhu zikhanyise, umbane kufuneka uphume kwiswitshi udlule kwintambo. Ngendlela efanayo, imiyalezo evela kwingqondo yethu (njengombane) kufuneka iye kwimisipha (iibhalbhu) ngohlobo oluthile lweseli yemithambo-luvo (ezi zifana nentambo) kwintambo yomqolo. Ezi seli zemithambo-luvo ezikhethekileyo sizibiza ngokuba zii-neurons ezisezantsi ze-motor .
Kwi-SMA, iiseli zemithambo-luvo (ii-motor neurons) kwi-spinal cord ziyafa kancinci kancinci. Emva koko, imiyalezo evela engqondweni ayifikeleli kwimisipha. Isiphumo? Imisipha ayifumani imiyalezo yokusebenza, ngoko ke iyancipha kancinci kancinci.
Olu buthathaka ludla ngokuchaphazela izihlunu ezikufutshane nombindi womzimba. Umzekelo, izihlunu emagxeni, ezinqeni, nasemathangeni zinokuba buthathaka ngokukhawuleza kunezihlunu ezikude, njengeminwe neenzwane.
Ziziphi iintlobo eziphambili ze-SMA?
I-SMA ayifani yonke. Oogqirha bayahlulahlula ibe ziintlobo ezi-5 eziphambili ngokusekwe kubudala apho iimpawu ziqala khona, ubukhali besifo, kunye nobude bobomi. Ukuqonda olu luhlu kunokukunceda ukuba usiqonde ngcono esi sifo.
| Uhlobo lwe-SMA | Ubudala bokuqala kweempawu | Uhlobo kunye neempawu eziphambili zesifo |
|---|---|---|
| Uhlobo 0 | Ngaphambi kokuzalwa (kwinqanaba lokukhulelwa) | Olu lolona hlobo lunqabileyo nolunzima kakhulu. Ukushukuma komntwana kuyancipha xa esesesibelekweni sikanina. Ubuthathaka obukhulu bemisipha kunye nobunzima obukhulu bokuphefumla kwenzeka xa ezalwa. Umntwana udla ngokufa xa ezalwa okanye kwinyanga yokuqala. |
| Uhlobo 1 (Isifo sikaWerdnig-Hoffman) | kwiinyanga ezi-6 ezidlulileyo | Malunga nama-60% ezigulane ezine-SMA zikulolu hlobo. Intamo ayinakulungiseka kakuhle. Umzimba ubonakala ungenabomi (hypotonia). Kunzima ukuginya nokuphefumla. Akunakwenzeka ukuhlala phantsi ngaphandle koncedo. Ngaphandle kwenkxaso yokuphefumla, uninzi lwabantwana lufa ngaphambi kokuba babe neminyaka emibini. |
| Uhlobo 2 (Isifo saseDubowitz) | Phakathi kweenyanga ezi-6 ukuya kwezi-18 | Ubuthathaka bemisipha buyanda kancinci kancinci. Buchaphazela imilenze ngaphezu kweengalo. Nangona aba bantwana bekwazi ukuhlala phantsi, abakwazi ukuhamba. Iingxaki zokuphefumla zezona ngxaki ziphambili. Ngonyango olufanelekileyo, banokuphila iminyaka emalunga nama-25-30. |
| Uhlobo 3 (Isifo sikaKugelbert-Welander) | Emva kweenyanga ezili-18 | Olu hlobo luthambileyo. Lubangela ubunzima bokuhamba ngenxa yobuthathaka bemisipha yemilenze. Ngokuqhelekileyo akukho ngxaki yokuphefumla. Ixesha lokuphila alichaphazeleki. |
| Uhlobo 4 (Omdala) | Emva kweminyaka engama-21 | Olu lolona hlobo lulula kakhulu. Iimpawu zikhula kancinci kakhulu. Nangona kukho ubuthathaka bemisipha, uninzi lwabantu luyaqhubeka nokukwazi ukuhamba. Ixesha lokuphila alichaphazeleki. |
Kutheni le nto esi sifo se-SMA senzeka?
Oku kupheleleIsifo esibangelwa yimfuza . Oko kukuthi, asibangelwa yimeko-bume okanye usulelo.
Uhlobo oluthile lweproteni lubalulekile ukugcina ii-motor neurons emizimbeni yethu ziphilile. I-gene ephambili eyalela ukuveliswa kwale proteni yi -gene ethi `SMN1` (survivor motor neuron 1) . Umntwana one-SMA unesiphako kule gene ethi `SMN1`. Ke ngoko, iproteni efunekayo ayiveliswa emzimbeni.
Kodwa, ngethamsanqa, sinesinye isini 'somncedisi' emzimbeni wethu esenza intwana yale protein, isini 'se-SMN2' . Kodwa senza isixa esincinci kakhulu saso. Ubunzima besi sifo buyahluka ngokuxhomekeke kwinani leekopi zesini 'se-SMN2' umntu anaso. Ukuba inani leekopi 'ze-SMN2' liphezulu, iimpawu zinokuba zincinci kakhulu. Yiyo loo nto abanye abantu benemeko enzima efana nohlobo 1, ngelixa abanye benemeko encinci efana nohlobo 4.
Esi sifo sizuzwa njani njengelifa?
I-SMA izuzwe njengelifa kwi- autosomal recessive pattern. Oku kunokuvakala ngathi ligama elinzima, kodwa lihamba ngolu hlobo:
- Ukuze umntwana abe ne-SMA, umntwana kufuneka azuze i-gene enesiphako ethi `SMN1` kumama nakutata.
- Kwiimeko ezininzi, bobabini abazali 'bangabathwali' bale jini inesiphako. Oku kuthetha ukuba abanazo iimpawu, kodwa banekopi enye yale jini inesiphako emzimbeni wabo.
- Ngalo lonke ixesha abazali ababini abathwala umntwana benomntwana, kukho amathuba angama-25% okuba umntwana abe ne-SMA.
Ifunyaniswa njani i-SMA?
Ukuba ucinga ukuba umntwana wakho unokuba neempawu ze-SMA, into yokuqala ekufuneka uyenze kukubona ugqirha ofanelekileyo. Ugqirha uza kukubuza ngeempawu zomntwana wakho aze amhlole ngononophelo umntwana wakho.
Eyona ndlela iphambili nechanekileyo yokuqinisekisa i-SMA kukuvavanya i-genetic.
- Uvavanyo lwemfuza: Olu luvavanyo lwegazi olulula olunokuchonga ngokuchanekileyo i-95% yezigulane ze-SMA ngokuchonga isiphene kwi-gene ye-`SMN1`.
- Ezinye iimvavanyo: Ngamanye amaxesha, ukuba iimpawu zifana nezinye izifo zemithambo-luvo, ugqirha unokucebisa ezinye iimvavanyo.
- Uvavanyo lwegazi lweCreatine kinase (CK): Le enzyme iphezulu kwezinye izifo ezonakalisa izihlunu. Nangona kunjalo, kwi-SMA, kudla ngokuba yinto eqhelekileyo.
- I-Electromyogram (EMG): Uvavanyo olulinganisa umsebenzi wombane wezihlunu kunye nemithambo-luvo.
- I-biopsy yemisipha: Kunqabile kakhulu ukuba kuthathwe iqhekeza elincinci lemisipha ukuze lihlolwe.
Ngaba oku kungafunyanwa ngexesha lokukhulelwa?
Ewe. Ukuba kukho imbali ye-SMA kusapho lwakho okanye ukuba wena neqabane lakho niyaziwa ukuba ningabathwali besifo, ningayivavanya imveku yakho ukuze niyibone ngexesha lokukhulelwa.
- I-Amniocentesis: I-Amniocentesis:Emva kweeveki ezili-14 zokukhulelwa, inaliti encinci kakhulu idluliselwa esiswini sikamama kwaye isampuli encinci yolwelo lwe-amniotic olujikeleze usana olungekazalwa ithathwa ukuze ivavanywe.
- I-Chorionic villus sampling (CVS): Inkqubo ebandakanya ukuthatha iqhekeza elincinci lesicwili kwi-placenta kwaye livavanywe kwasekuqaleni kweeveki ezili-10 zokukhulelwa.
Ungafunda okungakumbi ngezi mvavanyo ngokuthetha nogqirha wakho.
Ziziphi iindlela zonyango ze-SMA?
Ngelishwa, akukho nyango lwe-SMA okwangoku. Kodwa ungalahli ithemba. Izinto zahluke kakhulu namhlanje kunakwiminyaka eli-10 eyadlulayo. Zininzi izinto onokuzenza ukulawula iimpawu, ukuphucula umgangatho wobomi bomntwana wakho, kunye nokuthintela iingxaki. Ukongeza, unyango olutsha nolusebenzayo kakhulu luye lwafumaneka kutshanje olunokutshintsha indlela esi sifo.
1. Ulawulo lweempawu kunye neenkonzo zenkxaso
Ezi zenza ubomi bemihla ngemihla bube lula kumntwana kwaye zimnceda ahlale eqinile.
- Unyango lomzimba: Lunceda ukuqinisa izihlunu, luthintele ukuqina kwamalungu, kwaye lugcine ukuma okufanelekileyo.
- Unyango lomsebenzi: Lunceda umntwana ukuba enze imisebenzi yemihla ngemihla eyedwa, njengokutya nokunxiba.
- Izixhobo zokuncedisa: Izinto ezifana nee-walker, izitulo ezinamavili, kunye nee-braces zokugcina umqolo wakho uthe nkqo.
- Unyango lokuthetha nokuginya: Lunceda abantwana abanengxaki yokuginya ukuba bafunde ukutya ngokukhuselekileyo.
- Ukondla: Ukuba kunzima kakhulu ukuginya, kufakwa ityhubhu yokufunza ngempumlo okanye ngesisu ngqo esiswini.
- Inkxaso yokuphefumla: Kusetyenziswa oomatshini abakhethekileyo (abancediswa kumoya) xa kukho ubunzima bokuphefumla.
2. Unyango lwanamhlanje lwezonyango
Ezi zizinto ezitshintshe unyango lwe-SMA. Zijongana nonobangela wesifo, ukungabikho kweproteni.
- Unyango oluguqula izifo: La mayeza avuselela i-helper gene ebizwa ngokuba yi-`SMN2`, nto leyo ebangela ukuba ivelise i-SMN protein engaphezulu.
- I-Nusinersen (i-Spinraza®): Eli liyeza elifakwa kulwelo olujikeleze umqolo.
- I-Risdiplam (Evrysdi®): Eli liyeza elithathwa imihla ngemihla.
- Unyango lokutshintsha iijini:
- I-Onasemnogene abeparvovec-xioi (Zolgensma®): Eli lelinye lamayeza abiza kakhulu emhlabeni. Lisebenza ngokutshintsha i-gene ye-SMN1 enesiphako nge-gene ye-SMN1 esempilweni nesebenzayo. Liyi-infusion ye-intravenous (IV) efakwa kube kanye kubantwana abangaphantsi kweminyaka emi-2 ubudala.
Olu nyango lutsha luye lwabonakala lusebenza kakhulu, ingakumbi ukuba lunikwe ngaphambi okanye kumanqanaba okuqala eempawu.
Imibuzo omele uyibuze ugqirha wakho
Kuqhelekile ukuba nemibuzo emininzi engqondweni yakho xa ufumanisa ukuba umntwana wakho une-SMA. Musa ukumbambela nantoni na, buza ugqirha wakho.
- Luhlobo luni lwe-SMA umntwana wam analo?
- Luhlobo luni lwemeko esinokuyilindela kwixesha elizayo ngokwale hlobo?
- Zeziphi iindlela zonyango ezilungele umntwana wam?
- Ngaba kukho naziphi na iziphumo ebezingalindelekanga kwezi ndlela zonyango?
- Ngaba amanye amalungu osapho lwethu okanye umntwana wethu olandelayo usemngciphekweni wokufumana esi sifo? Ngaba kufuneka sivavanywe ngokwemfuza?
- Luluphi unyango oluqhubekayo umntwana aludingayo?
- Zeziphi iimpawu zeengxaki ekufuneka ndiziqaphele ngokukodwa?
Ukujongana nokuxilongwa kwe-SMA kunokuba nzima. Kodwa khumbula, awuwedwa. Ngeengcebiso zonyango ezifanelekileyo, unyango, nothando nenkxaso yosapho, ungamnika umntwana wakho ubomi obumnandi kangangoko.
Umyalezo Wokuya Ekhaya
- I-Spinal Muscular Atrophy (SMA) sisifo semfuza esizuzwe ngabazali. Sichaphazela iiseli zemithambo-luvo kwi-spinal cord, sisenza izihlunu zibe buthathaka kancinci kancinci.
- Kukho iintlobo ezahlukeneyo ngokuxhomekeke kubukhulu besifo. Uhlobo 1 lolona hlobo lunzima kakhulu kwaye uhlobo 4 lolona luncinci.
- Ukuba ubona iimpawu ezinjengokuncipha kokunyakaza, ubunzima bokubamba intamo, okanye ukudinwa kumntwana, funa ingcebiso kagqirha ngokukhawuleza.
- Uvavanyo lwemfuza lunokuqinisekisa ngokuchanekileyo esi sifo.
- Nangona esi sifo singenakunyangwa ngokupheleleyo, unyango lwanamhlanje olufana neZolgensma® kunye neSpinraza® lunokutshintsha phantse ngokupheleleyo indlela esi sifo siqhubeka ngayo, nto leyo ephucula kakhulu ixesha lokuphila komntwana kunye nomgangatho wobomi.
- Iinkonzo zenkxaso ezifana nonyango lomzimba kunye nonyango lomsebenzi zibalulekile ekulawuleni umntwana.
- Thetha ngokukhululekileyo nogqirha onyanga umntwana wakho uze ubuze yonke imibuzo.
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