Cabanga nje, ingane yakho encane iyamomotheka, igijima futhi idlala. Ubuka ngenjabulo zonke izinyathelo zokukhula kwayo. Lapho nje ucabanga ukuthi konke kuhamba kahle, ngokuzumayo indlela ehamba ngayo iyashintsha, iqala ukuwa njalo. Ukubona into efana naleyo kungathusa noma yimuphi umama noma ubaba, akunjalo? Lokhu kumayelana nemindeni embalwa engazange ilahle ithemba naphezu kokubhekana nesipiliyoni esibuhlungu kangaka. Izindaba zabo zisifundisa okuningi.
Indaba ka-"Will's": Usuku Konke Kwashintsha
UWill ungumfana omncane othanda ukuganga, okhuthele, nokhululekile. Ngokusho kukanina, uCasey, yonke intuthuko ekukhuleni kwakhe yenzeka ngesikhathi esifanele. Lapho uWill eneminyaka emibili ubudala, wayehamba futhi edlala kahle, kodwa ngaphandle kwesizathu esibonakalayo, waqala ukuwa njalo. Ngolunye usuku, wawa ngokuzumayo.
Kusukela ngalolo suku kuqhubeke, impilo kaWill yaqala ukuwohloka ngokushesha. Ngemva kokuhlolwa okuningi, odokotela bagcina bethole ukuthi uWill wayenesifo esingavamile kakhulu. Lesi sifo sabizwa ngokuthi i-'Leigh syndrome' .
Kalula nje, iseli ngalinye emzimbeni wethu linezitshalo zamandla ezincane ezibizwa ngokuthi i-mitochondria ezinikeza amandla. Kulesi sifo esingavamile esibizwa ngokuthi i-Leigh syndrome, lezi zikhungo ezikhiqiza amandla azisebenzi kahle ngenxa yokuguquka kwezakhi zofuzo. UWill waba nokuguquka kwenye yalezo zakhi zofuzo, ebizwa ngokuthi i-SURF1. Lesi simo singeseqembu elikhulu lezifo ezibizwa ngokuthi izifo ze-mitochondrial.
UCasey ukhumbula leso sikhathi ngemizwa emikhulu. "Kwakuyisikhathi esinzima kakhulu empilweni yethu. Ngenkathi omunye wabantwana bami engakwazi ukuhamba, omunye umntwana wami wayefunda ukuhamba." Cabanga ukuthi lowo mama kumelwe ukuba wazizwa kanjani.
Impi edlula ubuzali
Lapho lokhu kwenzeka enganeni yabo, uCasey nomyeni wakhe, uDoug, abazange bahlale phansi babukele. Baqala ukucwaninga konke okwakumelwe bakwazi ngalesi sifo. Njengoba uCasey esho, "Uma uzwa ngesifo esingavamile njengalesi, kuzwakala sengathi impilo yakho yonke iyawa phambi kwakho... bese kufanele ufunde konke okwakumelwe ukwazi ngesifo sengane yakho. Kufana nokuya esikoleni sezokwelapha bese uthatha inkambo entsha ngokuphelele."
Lapho beqaphela ukuthi ulwazi nezinsizakusebenza ezincane kangakanani ngalesi sifo, bahlangana neminye imindeni enezingane ezinesimo esifanayo futhi baqala i- "Cure Mito Foundation." Umgomo walesi sisekelo kwakuwukusiza ekutholeni ukwelashwa noma ukwelashwa kwe-Leigh syndrome.
"Umndeni wengane enesifo esingavamile, ngaphezu kokunakekela ingane, singabameli abayinhloko bayo, siba abahlengikazi ebusuku, siqoqa izigidi zamaRandi. Asazi nokuthi lezi zinto zizosebenza yini. Kodwa, siyazama." - Casey Wollaben
Bheka izinselele abazali abafana nalaba ababhekene nazo kanye nendima enkulu abayidlalayo.
| Izinselele ezibhekene nabazali bengane enesifo esingavamile | Izindima ezahlukene abazidlalayo |
|---|---|
| Ukuntuleka kolwazi olunembile kanye nezinsiza mayelana nalesi sifo. | Umcwaningi: Ukufunda ngalesi sifo ngokwakho. |
| Izindleko zezimali eziphakeme zezinsizakalo zokwelashwa nokusekela. | Umqoqi wemali: Ukufuna imali yocwaningo. |
| Ukucindezeleka okukhulu ngokomzwelo kanye nokuhlukaniswa nabantu. | Ummeli: Ummeli wamalungelo nezintshisekelo zengane. |
| Ukunakekelwa kwezokwelapha okukhethekile okudingeka amahora angama-24 ngosuku. | Umhlengikazi: Ukunikeza ingane ukunakekelwa kwezokwelapha okudingekayo ekhaya. |
"USophia" owaguqula ubuhlungu baba amandla
Indaba kamama ogama lakhe linguSophia Silber nayo ihlobene nalokhu. Uphinde abe sebhodini labaqondisi be-'Cure Mito' Foundation. Eminyakeni eyisithupha edlule, indodakazi yakhe encane uMiriam, emasontweni ambalwa ngemva kokuzalwa, washona ngenxa ye-'Leigh syndrome'. Ukushaqeka kwalowo kufa okungazelelwe, okungalindelekile kwakukhulu kangangokuthi uSophia uthi lesi sigameko sahlukanisa izimpilo zabo zibe izingxenye ezimbili: 'ngaphambi' kanye 'nangemva'. "Wonke amazwi, umzuzu ngamunye waleyo sikhathi uhlala usezinhliziyweni zethu," usho kanje.
Kodwa akagcinanga lapho. Wasebenzisa ulwazi lwakhe lobuchwepheshe (ukuhlaziywa kwedatha yesilingo somtholampilo) ukudala irejista yeziguli eyayizoqoqa ulwazi mayelana neziguli ezinalesi sifo emhlabeni wonke. Uzinikele ngamahora amaningi kulokhu.
Kungani irejista yeziguli enje ibaluleke kangaka?
Cabanga nje, ngoba lezi zifo azivamile, akekho udokotela oyedwa ozohlangana nenani elikhulu leziguli ezinjengalezi. Ngakho-ke ulwazi olungcono kakhulu mayelana nendlela lesi sifo esikhula ngayo, indlela esihamba ngayo, nokuthi izimpawu zishintsha kanjani lusezigulini kanye nemindeni yazo. Uma lolu lwazi luqoqwa endaweni eyodwa, luba umthombo obalulekile kubacwaningi abafuna imithi emisha. Luvula indlela yokwelashwa okusha.
Ifa Lethemba
Ake sibuyele endabeni kaWill. Namuhla, uWill uneminyaka eyi-11 ubudala. Nakuba engakwazi ukuhamba, ukukhuluma, noma ukudla ngomlomo, isimo sakhe sizinzile. Okubaluleke kakhulu, amakhono akhe engqondo asese mahle kakhulu. Unina uthi unesithakazelo esikhulu kwisayensi. Ngesikhathi socingo lwevidiyo lwakamuva, wamomotheka futhi waphakamisa isithupha ukuqinisekisa lokhu.
I-Cure Mito Foundation, eyaqalwa ngabazali bakaWill, manje ixhasa ukwelashwa kwezakhi zofuzo kanye nocwaningo lokusebenzisa imithi ukuze kubonakale ukuthi eminye imithi ekhona ingasetshenziswa yini ukwelapha lesi sifo.
Lokho kusho ukuthi lokho esikwenzayo egameni likaWill kungasindisa impilo yomunye umntwana onalesi sifo esikhathini esizayo. Lelo yifa alishiya ngemuva. Lezi zindaba zisitshela ukuthi kungakhathaliseki ukuthi isimo sinzima kangakanani, uma sihlangana futhi sisebenza ngethemba, singenza umehluko omkhulu. Impi laba bazali abayilwelayo ngengane yabo iwukudala ikusasa lezinkulungwane zezinye izingane.
Umlayezo Wokuya Nawe Ekhaya
- Ukutholwa unesifo esingavamile akusikho ukuphela kokuphila. Ulwazi, ubunye, nethemba yizona zinto ezikukhandlayo kakhulu.
- Uma ubona noma yiziphi izinguquko ezingavamile nezingaqondakali ekukhuleni noma ekuziphatheni kwengane yakho, ungakuzibi. Funa iseluleko kudokotela oqeqeshiwe ngokushesha.
- Ukusekela kwethu nokuqonda kwethu kubaluleke kakhulu emindenini ephila nalezi zimo. Ungababeki eceleni, kodwa yiba amandla abo.
- Okuhlangenwe nakho nolwazi lweziguli nemindeni yazo luyinsiza ebalulekile yocwaningo lokuthola izindlela zokwelapha ezintsha.
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