Ngaba luvavanywa njani i-Spinal Muscular Atrophy ngexesha lokukhulelwa?

Umxholo

• Kufuneka ucinge nini ukuvavanya?
• Loluphi uhlobo lovavanyo olusetyenzisiweyo?
• Zenziwa njani iimvavanyo?
• Ngaba bukhona ubungozi bokuba kwenziwe olu vavanyo?
• Imfuza ye-SMA
• Iindidi ze-SMA kunye nokhetho lonyango
• Uhlobo lweSMA 0
• Uhlobo lwe-SMA 1
• Uhlobo lweSMA 2
• Uhlobo lwe-SMA 3
• Uhlobo lweSMA 4
• Izinketho zonyango
• Ukuthatha isigqibo sokuba uza kuvavanywa ngaphambi kokubeleka
• Ukuthatha

I-Spinal muscular atrophy (SMA) yimeko yemfuza eyenza buthathaka izihlunu kuwo wonke umzimba. Oku kwenza ukuba kube nzima ukuhamba, ukugwinya, kwaye kwezinye iimeko ukuphefumla.

I-SMA ibangelwa kukutshintsha kwemfuza okudluliselwa kubazali kuye ebantwaneni. Ukuba ukhulelwe kwaye wena okanye iqabane lakho linembali yosapho ye-SMA, ugqirha wakho unokukukhuthaza ukuba uqwalasele uvavanyo lwemfuza ngaphambi kokubeleka.

Ukuvavanywa kofuzo okwenziwe ngexesha lokukhulelwa kunokuba noxinzelelo. Ugqirha wakho kunye nomcebisi ngemfuza unokukunceda uqonde ukhetho lwakho lokuvavanya ukuze wenze izigqibo ezifanelekileyo.

Kufuneka ucinge nini ukuvavanya?

Ukuba ukhulelwe, unokuthatha isigqibo sokufumana uvavanyo lwe-SMA ngaphambi kokubeleka ukuba:

• wena okanye iqabane lakho linembali yosapho ye-SMA
• wena okanye iqabane lakho ngumthwali owaziwayo wohlobo lweSMA
• Uvavanyo lokuvavanywa kokukhulelwa kwangoko lubonisa ukuba amathuba okuba nosana onesifo semfuza aphezulu kunomyinge

Isigqibo malunga nokuba ungalufumana na uvavanyo lwemfuzo sesomntu. Unokuthatha isigqibo sokuba ungalwenzi uvavanyo lofuzo, nokuba ngaba ii-SMA zibaleka kusapho lwakho.

Loluphi uhlobo lovavanyo olusetyenzisiweyo?

Ukuba uthatha isigqibo sokufumana uvavanyo lwangaphambi kokubeleka lwe-SMA, uhlobo lovavanyo luya kuxhomekeka kwinqanaba lokukhulelwa kwakho.

Isampulu ye-chorionic villus (i-CVS) luvavanyo olwenziwe phakathi kweeveki ezili-10 ukuya kwezi-13 zokukhulelwa. Ukuba ulufumana olu vavanyo, kuya kuthathwa isampulu ye-DNA kwi-placenta yakho. Indawo yomkhaya yi ilungu elikhoyo kuphela ngexesha lokukhulelwa kwaye libonelela umntwana ongekhoyo kwizakhamzimba.

I-Amniocentesis luvavanyo olwenziwe phakathi kweeveki ezili-14 ukuya kwezingama-20 zokukhulelwa. Ukuba ulufumana olu vavanyo, kuya kuqokelelwa isampulu ye-DNA kulwelo lwe-amniotic esibelekweni sakho. Amniotic fluid lulwelo olujikeleza usana olungekazalwa.

Emva kokuba kuqokelelwe isampulu ye-DNA, iya kuvavanywa elebhu ukufumanisa ukuba ngaba umntwana ongekazalwa une-gene ye-SMA. Kuba i-CVS yenziwa kwangoko xa ukhulelwe, uya kufumana iziphumo kwinqanaba lokuqala lokukhulelwa kwakho.

Ukuba iziphumo zovavanyo zibonisa ukuba umntwana wakho unokuba nefuthe le-SMA, ugqirha wakho unokukunceda uqonde ukhetho lwakho lokuqhubela phambili. Abanye abantu bathatha isigqibo sokuqhubeka nokukhulelwa kwaye baphonononge ukhetho kunyango, ngelixa abanye banokuthatha isigqibo sokuphelisa ukukhulelwa.

Zenziwa njani iimvavanyo?

Ukuba uthatha isigqibo sokuya kwi-CVS, ugqirha wakho unokusebenzisa enye yeendlela ezimbini.

Indlela yokuqala yaziwa njenge-CVS engaphaya komzimba. Ngale ndlela, umboneleli wezempilo ufaka inaliti ebhityileyo esiswini sakho ukuqokelela isampulu kuvavanyo lwakho. Banokusebenzisa i-anesthetic yendawo ukunciphisa ukungonwabi.

Olunye ukhetho kukudlula kweCVS. Kule ndlela, umboneleli wezempilo ubeka ityhubhu ebhityileyo kwilungu lakho lobufazi kunye nomlomo wesibeleko ukufikelela kwi-placenta yakho. Basebenzisa ityhubhu ukuthatha isampulu encinci kwi-placenta kuvavanyo.

Ukuba uthatha isigqibo sokuba kwenziwe uvavanyo ngokusebenzisa i-amniocentesis, umboneleli wezempilo uya kufaka inaliti ende ende esiswini sakho kwisangqa se-amniotic ejikeleze umbungu. Baza kusebenzisa le naliti ukuzoba isampulu ye-amniotic fluid.

Kuzo zombini i-CVS kunye ne-amniocentesis, imaging ye-ultrasound isetyenziswa kuyo yonke inkqubo ukunceda ukuqinisekisa ukuba yenziwe ngokukhuselekileyo nangokuchanekileyo.

Ngaba bukhona ubungozi bokuba kwenziwe olu vavanyo?

Ukufumana olunye lolu vavanyo lwe-SMA ngaphambi kokubeleka kunokunyusa umngcipheko wokukhulelwa kwesisu. Nge-CVS, kukho i-1 kwi-100 ithuba lokuphuma kwesisu. Nge-amniocentesis, umngcipheko wokukhulelwa kwesisu ungaphantsi kwe-1 kuma-200.

Kuqhelekile ukuba ube ne-cramping okanye ukungonwabi ngexesha lenkqubo kunye neeyure ezimbalwa emva koko. Unokufuna ukuba umntu eze nawe kwaye akuqhubele ekhaya ukusuka kwinkqubo.

Iqela lakho lokhathalelo lwempilo lunokukunceda uthathe isigqibo sokuba ngaba umngcipheko wokuvavanywa ungaphezulu kwezibonelelo ezinokubakho.

Imfuza ye-SMA

I-SMA sisifo esibuhlungu semfuza. Oku kuthetha ukuba imeko yenzeka kuphela kubantwana abaneekopi ezimbini zemfuza echaphazelekayo. Inkqubo ye- I-SMN1 Iikhowudi zemfuza zeprotheyini ye-SMN. Ukuba zombini iikopi zolu hlobo zinesiphene, umntwana uya kuba ne-SMA. Ukuba inye kuphela ikopi enesiphene, umntwana uya kuba sisiphatho, kodwa akasayi kuyiphucula imeko.

Inkqubo ye- I-SMN2 Imfuza ikwakhowudi yeprotein ye-SMN, kodwa hayi kangako kule protein njengoko kufuneka emzimbeni. Abantu banekopi engaphezulu kwesinye yefayile ye- I-SMN2 Uhlobo, kodwa ayinguye wonke umntu onenani elifanayo leekopi. Iikopi ezingakumbi zempilo esempilweni I-SMN2 Uhlobo lwe-gene oluhambelana ne-SMA engaphantsi kakhulu, kunye neekopi ezimbalwa ezinxibelelana ne-SMA eqatha.

Phantse kuzo zonke iimeko, abantwana abane-SMA bazuze njengelifa iikopi zohlobo oluchaphazelekayo kubazali bobabini. Kwiimeko ezinqabileyo kakhulu, abantwana abane-SMA bazuze njengelinye ikopi yohlobo oluchaphazelekayo kwaye banokutshintsha okuzenzekelayo kwenye ikopi.

Oku kuthetha ukuba ukuba ngumzali omnye kuphela ophethe ufuzo lwe-SMA, umntwana wabo unokuyiphatha imfuza nayo- kodwa mancinci kakhulu amathuba okuba umntwana wabo aphuhlise ii-SMA.

Ukuba omabini amaqabane ephethe uhlobo oluchaphazelekayo, kukho:

• Ipesenti ezingama-25 zokuba zombini zidlule kwimfuza ngexesha lokukhulelwa
• Iipesenti ezingama-50 zamathuba okuba inye kuphela kubo eya kudlulisa uhlobo ekukhulelweni
• Iipesenti ezingama-25 zinethuba lokuba kungabikho namnye kubo oya kudlulisa uhlobo ekukhulelweni

Ukuba wena neqabane lakho nobabini niphethe imfuza ye-SMA, umcebisi wemfuza unokukunceda uqonde amathuba akho okudlulisa.

Iindidi ze-SMA kunye nokhetho lonyango

I-SMA yahlulwa ngokusekwe kwiminyaka yokuqala kunye nobukhali beempawu.

Uhlobo lweSMA 0

Olu luqalo lokuqala kunye nolona hlobo lubalulekileyo lwe-SMA. Kwakhona ngamanye amaxesha kuthiwa yi-SMA yaphambi kokubeleka.

Kolu hlobo lwe-SMA, ukwehla kwentshukumo yemveku kuhlala kuqatshelwa ngexesha lokukhulelwa. Iintsana ezizalwe zinohlobo lwe-SMA 0 zinobuthathaka obukrakra bezihlunu kunye nengxaki yokuphefumla.

Iintsana ezinolu hlobo lwe-SMA zihlala zingadluli kwiinyanga ezi-6 ubudala.

Uhlobo lwe-SMA 1

Olu lolona hlobo luxhaphakileyo lwe-SMA, ngokweThala leLizwe le-U.S. Kwakhona kwaziwa ngokuba sisifo seWerdnig-Hoffmann.

Kwiintsana ezizalwa zine-SMA yohlobo 1, iimpawu zihlala zivela ngaphambi kweenyanga ezintandathu ubudala. Iimpawu zibandakanya ubuthathaka obukhulu bemisipha kwaye kwiimeko ezininzi zinemiceli mngeni ngokuphefumla nokuginya.

Uhlobo lweSMA 2

Olu hlobo lwe-SMA luhlala luchongwa phakathi kweminyaka yeenyanga ezi-6 kunye neminyaka emi-2.

Abantwana abanohlobo 2 lwe-SMA banakho ukuhlala kodwa bangahambi.

Uhlobo lwe-SMA 3

Le fomu ye-SMA ihlala ifunyaniswa iphakathi kweminyaka emi-3 ukuya kweli-18.

Abanye abantwana abanolu hlobo lwe-SMA bafunda ukuhamba, kodwa banokufuna isitulo esinamavili njengoko isifo siqhubeka.

Uhlobo lweSMA 4

Olu hlobo lwe-SMA aluqhelekanga kakhulu.

Kubangela iimpawu ezinqabileyo ezingabonakali de zibe mdala. Iimpawu eziqhelekileyo zibandakanya ukungcangcazela kunye nobuthathaka bemisipha.

Abantu abanolu hlobo lwe-SMA bahlala behlala iminyaka emininzi.

Izinketho zonyango

Kuzo zonke iintlobo ze-SMA, unyango ngokubanzi lubandakanya indlela eyahlukeneyo yoqeqesho kunye neengcali zononophelo lwempilo ezinoqeqesho olulodwa. Unyango lweentsana ezine-SMA lunokubandakanya unyango oluxhasayo lokunceda ngokuphefumla, isondlo kunye nezinye iimfuno.

Ulawulo lwezoKutya kunye noLawulo lweziyobisi (i-FDA) kutshanje luphumeze iindlela zonyango ezimbini ekujolise kuzo ukunyanga ii-SMA:

• INusinersen (Spinraza) yamkelwe yabantwana kunye nabantu abadala abane-SMA. Kwezilingo zeklinikhi, ibisetyenziswa kwiintsana ezisencinci njenge.

• I-Onasemnogene abeparvovec-xioi (i-Zolgensma) lunyango lwenzala oluvunyiweyo ukuba lusetyenziswe kwiintsana ezine-SMA.

Olu nyango lutsha kwaye uphando luyaqhubeka, kodwa zinokutshintsha umbono wexesha elide kubantu abazelwe nge-SMA.

Ukuthatha isigqibo sokuba uza kuvavanywa ngaphambi kokubeleka

Isigqibo malunga nokuba ungalufumana na uvavanyo lwangaphambi kokubeleka lwe-SMA lolwakho, kwaye kwabanye kunokuba nzima. Unokukhetha ukungalwenzi uvavanyo, ukuba yile nto uyithandayo.

Inokukunceda ukudibana nomcebisi ngemfuza njengoko usebenza kwisigqibo sakho kwinkqubo yovavanyo. Umcebisi ngemfuzo yingcali yesifo somngcipheko kunye novavanyo.

Inokukunceda nokuthetha nomcebisi ngempilo yengqondo, onokuthi akunike kunye nosapho lwakho ngenkxaso ngeli xesha.

Ukuthatha

Ukuba wena okanye iqabane lakho unembali yosapho ye-SMA okanye ungumphathi owaziwayo wemfuza ye-SMA, unokucinga ngokufumana uvavanyo lwangaphambi kokubeleka.

Oku kunokuba yinkqubo yeemvakalelo. Umcebisi ngemfuza kunye nabanye abaqeqeshi bezempilo banokukunceda ufunde malunga nokhetho lwakho kwaye wenze izigqibo oziva ulunge ngakumbi kuwe.