Luluphi unyango olufumanekayo kwi-Spinal Muscular Atrophy?

Umxholo

• Unonophelo lwezinto ezininzi
• Unyango ekujoliswe kulo
• Ispinraza
• Zolgensma
• Unyango lovavanyo
• Unyango oluxhasayo
• Impilo yokuphefumla
• Impilo yesondlo kunye nokwetyisa
• Amathambo kunye nempilo edibeneyo
• Inkxaso yeemvakalelo
• Ukuthatha

I-Spinal muscular atrophy (SMA) yimeko enqabileyo yemfuza ebangela ukuba izihlunu zibuthathaka kwaye zibhityile. Uninzi lweentlobo ze-SMA zifunyaniswa kwiintsana okanye kubantwana abancinci.

I-SMA inokubangela ukukhubazeka ngokudibeneyo, ubunzima bokondla, kunye nobungozi bokuphefumla. Abantwana kunye nabantu abadala abane-SMA banokuba nobunzima bokuhlala, ukuma, ukuhamba, okanye ukugqiba eminye imisebenzi ngaphandle koncedo.

Okwangoku akukho lunyango lweSMA. Nangona kunjalo, unyango olutsha ekujoliswe kulo lunokunceda ukuphucula imeko yabantwana kunye nabantu abadala abane-SMA. Unyango oluxhasayo lukwakhona ukunceda ukulawula iimpawu kunye neengxaki ezinokubakho.

Thatha umzuzwana ukuba ufunde ngakumbi malunga nokhetho kunyango lwe-SMA.

Unonophelo lwezinto ezininzi

I-SMA inokuchaphazela umzimba womntwana wakho ngeendlela ezahlukeneyo. Ukulawula iimfuno zabo ezahlukeneyo zenkxaso, kubalulekile ukudibanisa iqela elinamacandelo amaninzi eengcali zononophelo lwempilo.

Ukuhlolwa rhoqo kuya kuvumela iqela lezempilo lomntwana wakho ukuba lijonge imeko yabo kwaye livavanye ukuba lusebenza kakuhle kangakanani na unyango lwabo.

Basenokucebisa utshintsho kwisicwangciso sonyango somntwana wakho ukuba umntwana wakho uvelisa iimpawu ezintsha okanye eziba mandundu. Banokucebisa utshintsho ukuba luyafumaneka unyango olutsha.

Unyango ekujoliswe kulo

Ukunyanga oonobangela be-SMA, uLawulo lokuTya kunye noLawulo lweziyobisi (i-FDA) kutshanje yamkele iindlela ezimbini ekujolise kuzo:

• nusinersen (Spinraza), evunyiweyo ukunyanga ii-SMA ebantwaneni nakubantu abadala
• I-onasemnogene abeparvovec-xioi (iZolgensma), evunyiweyo yokunyanga ii-SMA kubantwana abangaphantsi kweminyaka emi-2 ubudala

Olu nyango lutsha nje, ngoko ke iingcali azikayazi imiphumo yexesha elide yokusebenzisa olu nyango. Izifundo zibonisa ukuba banokunciphisa okanye banciphise ukuqhubela phambili kwe-SMA.

Ispinraza

I-Spinraza luhlobo lonyango olwenzelwe ukonyusa imveliso yeprotein ebalulekileyo, eyaziwa njenge-sensor motor neuron (SMN) protein. Abantu abane-SMA abayivelisi ngokwaneleyo le protein ngokwabo.

Lwamkelwe unyango olusekwe kwizifundo zeklinikhi ezibonisa ukuba iintsana kunye nabantwana abafumana unyango banokuphucula iimoto, njengokukhasa, ukuhlala, ukuziqengqa, ukuma, okanye ukuhamba.

Ukuba ugqirha womntwana wakho umisela iSpinraza, baya kulifaka iyeza kulwelo olujikeleze intambo yomqolo womntwana wakho. Baza kuqala ngokunika iidosi ezine zamayeza kwiinyanga zokuqala zonyango. Emva koko, baya kulawula idosi enye qho kwiinyanga ezi-4.

Iziphumo ebezingalindelekanga ezinokubakho kunyango zibandakanya:

• ukwanda kwengozi yosulelo lwemiphunga
• ukwanda komngcipheko weengxaki zokopha
• umonakalo kwizintso
• ukuqhina
• ukugabha
• intloko ebuhlungu
• umqolo obuhlungu
• ifiva

Nangona iziphumo ebezingalindelekanga zinokwenzeka, gcinani engqondweni ukuba umboneleli wezempilo womntwana wakho uya kuncoma kuphela amayeza ukuba bakholelwa ukuba izibonelelo zingaphezulu komngcipheko weziphumo ebezingalindelekanga.

Zolgensma

I-Zolgensma luhlobo lonyango lonyango, apho intsholongwane eguqulweyo isetyenziselwa ukuhambisa ukusebenza I-SMN1 zemfuza kwiiseli zemithambo-luvo. Abantu abane-SMA abanalo olu hlobo lusebenzayo.

Amayeza avunyiweyo asekwe kuvavanyo lweklinikhi olubandakanya kuphela iintsana ezine-SMA ezingaphantsi kweminyaka emi-2 ubudala. Abathathi-nxaxheba kwizilingo babonisa ukuphucuka okubonakalayo kwizigaba zophuhliso, ezinje ngokulawulwa kwentloko kunye nokukwazi ukuhlala ngaphandle kwenkxaso, xa kuthelekiswa noko bekulindelekile kwizigulana ezingalufumani unyango.

I-Zolgensma yonyango lwangexesha elinye olulawulwa nge-infravenous (IV) infusion.

Iziphumo ezinokubakho zibandakanya:

• ukugabha
• ukwanda kwee-enzymes zesibindi
• umonakalo omkhulu wesibindi
• ukwanda kwamanqaku okonakala kwentliziyo yemisipha

Ukuba ugqirha womntwana wakho ubeka iZolgensma, baya kufuna uku-odola iimvavanyo zokujonga impilo yesibindi somntwana wakho ngaphambi, ngexesha kunye nasemva konyango. Banokubonelela ngolwazi oluthe kratya malunga nezibonelelo kunye nobungozi bonyango.

Unyango lovavanyo

Oososayensi bafunda ezinye iindlela zonyango ezinokubakho kwi-SMA, kubandakanya:

• yenyusa
• Yiyixinan
• reodesemiv
• I-SRK-015

I-FDA ayikazamkeli ezi zonyango zonyango. Nangona kunjalo, kunokwenzeka ukuba umbutho unokuvuma olunye okanye nangaphezulu kolu nyango kwikamva.

Ukuba unomdla wokufunda ngakumbi malunga nokukhetha kokulinga, thetha nogqirha womntwana wakho malunga novavanyo lweklinikhi. Iqela lakho lokhathalelo lwempilo linakho ukukunika ulwazi ngakumbi malunga nokuba umntwana wakho angathatha inxaxheba na kuvavanyo lweklinikhi, kunye nezibonelelo ezinokubakho kunye nomngcipheko.

Unyango oluxhasayo

Ukongeza kunyango ekujolise kulo ukunyanga i-SMA, ugqirha womntwana wakho unokucebisa ngezinye iindlela zonyango ukunceda ukulawula iimpawu okanye iingxaki ezinokubakho.

Impilo yokuphefumla

Abantwana abane-SMA bavame ukuba nezihlunu ezibuthathaka zokuphefumula, ezenza kube nzima ukuphefumla. Uninzi lukwakhula neziphene, ezinokubangela ubunzima ekuphefumleni.

Ukuba umntwana wakho kunzima ukuphefumla ngokunzulu okanye ekhohlela, kubabeka emngciphekweni omkhulu wenyumoniya. Olu lusulelo lobungozi bemiphunga.

Ukunceda ukucoca umoya womoya womntwana wakho kunye nokuxhasa ukuphefumla kwakhe, iqela labo lezempilo linokumisela:

• Isifuba somzimba somzimba. Umboneleli wezempilo ubetha esifubeni somntwana wakho kwaye usebenzisa ezinye iindlela zokukhulula nokucoca i-mucus kwiindlela zabo zomoya.
• Ukutsala nge-Oronasal. Umbhobho okhethekileyo okanye isirinji ufakwa empumlweni okanye emlonyeni womntwana wakho kwaye usetyenziselwa ukususa i-mucus kwiindlela zabo zomoya.
• Ukuchaphazeleka koomatshini / ukunyuka kwamaxabiso. Umntwana wakho uxakeke kumatshini okhethekileyo ofanisa ukukhohlela ukucoca i-mucus kwiindlela zabo zomoya.
• Ukungenisa umoya ngoomatshini. Imaski yokuphefumla okanye ityhubhu yetracheostomy isetyenziselwa ukudibanisa umntwana wakho kumatshini okhethekileyo obanceda baphefumle.

Kukwabalulekile ukulandela ishedyuli yokugonywa komntwana wakho ukunciphisa umngcipheko wosulelo, kubandakanya umkhuhlane kunye nenyumoniya.

Impilo yesondlo kunye nokwetyisa

I-SMA inokwenza kube nzima ukuba abantwana bancancise kwaye baginye, nto leyo inokunciphisa amandla abo okondla. Oku kungakhokelela ekukhuleni okungalunganga.

Abantwana kunye nabantu abadala abane-SMA banokufumana ubunzima bokugaya ukutya, njengokuqhinwa okungapheliyo, i-gastroesophageal reflux, okanye ukulibaziseka kokukhupha isisu.

Ukuxhasa impilo yesondlo kunye nokwetyisa komntwana wakho, iqela labo lokhathalelo lwempilo banokucebisa:

• utshintsho kwindlela abatya ngayo
• iivithamini okanye iiminerali ezongezelelweyo
• ukondla okungaphakathi, apho kusetyenziswa ityhubhu yokondla ukuhambisa amanzi kunye nokutya kwisisu
• amayeza okunyanga ukuqhina, i-reflux yegastroesophageal, okanye eminye imiba yokwetyisa

Iintsana nabantwana abancinci abane-SMA basemngciphekweni wokutyeba. Kwelinye icala, abantwana abadala kunye nabantu abadala abane-SMA basemngciphekweni wokutyeba kakhulu okanye ukutyeba kakhulu ngenxa yamanqanaba asezantsi omzimba.

Ukuba umntwana wakho utyebile, iqela labo lokhathalelo lwempilo linokucebisa ngotshintsho kwindlela abatya ngayo okanye kwimikhwa yokusebenza komzimba.

Amathambo kunye nempilo edibeneyo

Abantwana kunye nabantu abadala abane-SMA banemisipha ebuthathaka. Oku kunokunciphisa umda wokuhamba kwabo kwaye kubabeka emngciphekweni wokudibana ngokudibeneyo, njenge:

• uhlobo lokukhubazeka ngokudibeneyo okwaziwa njengeekhontrakthi
• Ukujikeleza okungaqhelekanga komqolo, okwaziwa ngokuba yi-scoliosis
• Ukugqwethwa kweembambo
• ukususwa kwenyonga
• amathambo aqhekekile

Ukunceda ukuxhasa nokwolula izihlunu kunye namalungu, iqela lezempilo lomntwana wakho linokuyalela:

• imithambo yonyango lomzimba
• iziqwenga, izihlangu zezilima, okanye ezinye izifo zamathambo
• ezinye izixhobo zenkxaso yangasemva

Ukuba umntwana wakho uneziphene ezidibeneyo okanye uqhekeko, banokufuna utyando.

Njengoko umntwana wakho ekhula, banokufuna isitulo esinamavili okanye esinye isixhobo sokumnceda ukuba ajikeleze.

Inkxaso yeemvakalelo

Ukuhlala unempilo enzulu kunokuba luxinzelelo kubantwana, nakubazali babo nakwabanye abanonophela.

Ukuba wena okanye umntwana wakho unengxaki yoxinzelelo, uxinzelelo, okanye olunye ucelomngeni lwempilo yengqondo, mxelele ugqirha wakho.

Banokukuthumela kwingcali yezempilo yengqondo ngengcebiso okanye olunye unyango. Banokukukhuthaza ukuba unxibelelane neqela lenkxaso labantu abahlala ne-SMA.

Ukuthatha

Nangona okwangoku lungekho unyango lwe-SMA, lukhona unyango olufumanekayo ukunceda ukucothisa ukukhula kwesi sifo, ukukhulula iimpawu, kunye nokulawula iingxaki ezinokubakho.

Isicwangciso sonyango somntwana ocetyiswayo siya kuxhomekeka kwiimpawu ezithile kunye neemfuno zenkxaso. Ukufunda ngakumbi ngonyango olufumanekayo, thetha neqela labo lokhathalelo lwempilo.

Unyango lwakwangoko lubalulekile ekukhuthazeni ezona ziphumo zibalaseleyo kubantu abane-SMA.