Akukho ntlungu inkulu kumama okanye kutata njengokubukela umntwana wabo esiba mandundu phambi kwamehlo abo. Umntwana obebaleka edlala ngequbuliso uqala ukungcangcazela enesimo esifana nokuxhuzula, okanye ebona indlela acinga ngayo nokufunda kwakhe kuncipha kancinci kancinci, kunzima ukuchaza uloyiko kunye nokothuka okuzivayo. Eso sisifo esinzima kakhulu nesingaqhelekanga esiza kuthetha ngaso namhlanje. Esi sifo sisifo se-Alpers, okanye `(iSifo se-Alpers)`.
Ngamafutshane, yintoni isifo se-Alpers?
Isifo se-Alpers sisifo esingaqhelekanga semfuza esichaphazela i-mitochondria, ezizizityalo zamandla ezincinci ezinika amandla iiseli zethu. Cinga ngaso ngathi kukho iibhetri ezininzi ezincinci ngaphakathi kwiseli nganye emzimbeni wethu, kwaye ezo bhetri zezona zinika ezo seli amandla eziwadingayo ukuze zisebenze. Okwenzekayo kwisifo se-Alpers kukuba ezi bhetri, i-mitochondria, azisebenzi kakuhle.
Oku kulahlekelwa ngamandla konakalisa kakhulu amalungu amathathu abalulekileyo emzimbeni wethu.
1. Ubuchopho: I-Dementia inokwenzeka ngenxa yokusebenza kwengqondo okungasebenzi kakuhle, nto leyo ekhokelela ekulahlekelweni yinkumbulo.
2. Isibindi: Ukusebenza kwesibindi kunokuyeka ngokupheleleyo, nto leyo ekhokelela ekungasebenzi kakuhle kwesibindi.
3. Izihlunu: Ukuxhuzula kungenzeka ngenxa yokusebenza okungaqhelekanga kombane engqondweni.
Iimpawu zesi sifo zihlala zibonakala nakweyiphi na iminyaka, ukusuka kwinyanga enye ukuya kwiminyaka engama-36. Nangona kunjalo, sibonakala kakhulu ebuntwaneni, ingakumbi phakathi kweminyaka emi-2 ne-4. Ngamanye amaxesha, esi sifo sinokubonakala nakwasebuntwaneni, oko kukuthi, phakathi kweminyaka eli-17 nengama-24. Okubuhlungu kukuba, esi sisifo esibi kakhulu, kwaye sidla ngokuphelela ekufeni.
Esi sifo sibangelwa sisiphene semfuza esisifumana njengelifa ekuzalweni. Oku kuthetha ukuba nokuba umntwana unezakhi zofuzo zesi sifo emzimbeni wakhe ekuzalweni, kungathatha iiveki, iinyanga, okanye iminyaka ukuba iimpawu zibonakale.
Isifo sika-Alpert saziwa ngamagama amaninzi:
- Isifo se-Alpers-Huttenlocher
- Isifo se-Alpers
- I-poliodystrophy yosana oluqhubekayo
Ngubani ofumana esi sifo? Sixhaphake kangakanani?
Nabani na ofumana ilifa le-gene enesiphene ebangela isifo se-Alpers unokufumana esi sifo. Sichaphazela zombini izini ngokulinganayo, kungakhathaliseki ukuba sisini na.
Kodwa ungakhathazeki, esi sisifo esingaqhelekanga. Ukwanda kwesi sifo kumalunga nomntu omnye kwabayi-100,000 . Kuthiwa sixhaphake kancinci kubantu baseMantla Yurophu.
Kutheni isifo sika-Alper senzeka? Yintoni unobangela?
Isizathu esiphambili soku kukutshintsha, okanye utshintsho, kwijini ebizwa ngokuba yi-'POLG1' emizimbeni yethu. Le yinto edluliselwa kwizizukulwana ngezizukulwana.
Ngamafutshane, kunje. Ukuze umntwana abe ngumntwana, kufuneka ufumane ijini kumama wakho kunye nejini kutata wakho. Ukuze umntwana abe nesifo se-Alpers, kufuneka afumane ijini enesiphako ethi 'POLG1' kumama nakutata. Nokuba bobabini abazali bangabathwali bejini enesiphako, basenokungabi nazimpawu. Kodwa ukuba umntwana ufumana ijini enesiphako kuzo zombini, umntwana uya kuba nesifo se-Alpers.
Njengoko besixoxile ngaphambili, esi siphene kwi-'POLG1' gene sibangela ukuba i-DNA ekwi-mitochondria, iziko lamandla eeseli zethu, ingasebenzi kakuhle. Yiyo loo nto amalungu afuna amandla amaninzi, njengengqondo, isibindi kunye nemisipha, echaphazeleka kakhulu.
Abanye abaphandi bakholelwa ukuba ukuba into ethile engqongileyo, njengentsholongwane, ichaphazela umntu ofumana ezi mfuza zinesiphene, inokubangela ukuba esi sifo sikhule.
Zithini iimpawu zesi sifo?
Iimpawu zesifo sika-Alpert zingahluka ngokuhamba kwexesha. Zinokwahlulwa zibe ziimpawu zokuqala kunye nezo zibonakala njengoko isifo siqhubeka.
Uphawu lokuqala oludla ngokubonakala sisifo sokuwa esinganyangekiyo, esinzima ukusilawula ngonyango.
Masiziqonde ngokucacileyo ezi mpawu kwitheyibhile engezantsi.
| Uhlobo lwempawu | Izinto onokuzibona |
|---|---|
| Iimpawu eziphambili neziphambili |
|
| Ezinye iimpawu zokuqala | |
| Iimpawu ezenzekayo njengoko isifo siqhubeka |
Oogqirha bayixilonga njani le sifo?
Ugqirha wakho uhlala ehlola ngononophelo iimpawu zomntwana wakho, enika ingqalelo ekhethekileyo kwiimpawu ezintathu eziphambili esixoxe ngazo ngaphambili : ukulahlekelwa yinkumbulo, isifo sesibindi, kunye nokuxhuzula .
Ukongeza, kwenziwa ezinye iimvavanyo ezininzi ukuqinisekisa ukuxilongwa.
| Uvavanyo | Indlela yokwenza oko kunye noko ukwaziyo |
|---|---|
| Uhlalutyo lolwelo lwe-cerebrospinal | I-spinal tep ibandakanya ukufaka inaliti encinci kakhulu emqolo wakho ongezantsi kunye nokususa inani elincinci lolwelo olujikeleze ubuchopho bakho. Olu lwelo luvavanywa ukuze kubonwe ukuba kukho naziphi na iziphene kwiikhemikhali ezithile zobuchopho. |
| Uvavanyo lwe-EEG `(i-Electroencephalography)` | Iipleyiti ezincinci zesinyithi (ii-electrode) zincamatheliswe ekhayeni ukuze kulinganiswe umsebenzi wombane wengqondo. Uvavanyo lwe-EEG lungabonisa ukuba umsebenzi wengqondo womntu onesifo sika-Alpers uyacotha. |
| Uvavanyo lwemfuza | Kuthathwa isampuli yegazi kwaye kuvavanywa ulandelelwano lweejini. Oku kunokuchonga ngokuchanekileyo ukuba kukho utshintsho kwijini ye-`POLG1`. |
| Iskeni se-MRI `(Umfanekiso weMagnetic Resonance)` | I-MRI scan yobuchopho inokubonisa ukwanda kwe-grey matter engqondweni yomntu onesifo se-Alpers. |
Ngaba ikhona indlela yokunyanga oku?
Okubuhlungu kukuba, akukho nyango lufunyenweyo ukuza kuthi ga ngoku lokunyanga isifo sika-Alpert okanye ukuthintela ukuqhubeka kwaso.
Nangona kunjalo, kukho iintlobo ngeentlobo zonyango oluxhasayo olunokunceda ukulawula iimpawu, ukunciphisa ukungonwabi, kunye nokuphucula umgangatho wobomi. Ugqirha wakho unokucebisa unyango olufana nolu:
- Amayeza okulawula iimeko zokuxhuzula: Amayeza okuxuzula anikwa ukunciphisa ukwenzeka kokuxhuzula.
- Ukondla kunye nokugcina amanzi emzimbeni: Ukuba unengxaki yokuginya ukutya, unokufakwa ityhubhu (i-percutaneous endoscopic gastrostomy) esiswini sakho ukuze ufumane ukutya kunye nolwelo.
- Ukutya: Ukutya okuneproteni ephantsi, ukutya okuncinci rhoqo.
- Unyango lomzimba: Ukuzilolonga kunye nonyango lokunciphisa ukuqina kwemisipha kunye nokuqinisa imisipha.
- Unyango lomsebenzi: Uqeqesho lokwenza imisebenzi yemihla ngemihla ngokuzimela.
- Unyango lokuthetha: Lunceda kwiingxaki zokuthetha.
- Izithomalalisi zentlungu kunye neziphumzi zemisipha: Kunikwa amayeza okunciphisa iintlungu kunye nokuqina kwemisipha.
- Inkxaso yokuphefumla: Ukuba kuvela ubunzima bokuphefumla, ukuphefumla kuxhaswa ngoomatshini abanjengo `CPAP` okanye `BiPAP®`, okanye ukuba kuyimfuneko, `(tracheostomy)`.
Kwakhona, ugqirha wakho uza kwenza uvavanyo lwegazi olwahlukeneyo (olufana `nobalo lwegazi olupheleleyo - i-CBC`, `uvavanyo lomsebenzi wesibindi`) rhoqo emva kweenyanga ezimbalwa ukujonga imeko yesigulana kunye nokulungisa unyango njengoko kufuneka.
Ukuba unyamekela umntwana ogulayo...
Siyazi ukuba olu luhambo olunzima kakhulu. Njengoko isifo siqhubeka, wena nomntwana wakho nisenokufuna inkxaso eyongezelelweyo. Kukho iingcali ezininzi kunye neenkonzo ezinokukunceda kolu hambo.
- Iingcali: Ungacela uncedo kwiingcali zesisu, iingcali zesibindi, iingcali zesondlo, kunye neengcali zengqondo.
- Inkonzo Yokonga Ekhaya: Kwimeko yokugula kakhulu, abasebenzi abaqeqeshiweyo bokonga banokubizwa ukuba beze ekhayeni lakho baze banyamekele umntwana wakho.
- Amaqela okhathalelo lwentlungu: La maqela anceda ekunikeni inkxaso namandla engqondo afunekayo ukugcina umntwana ekhululekile kwaye engenantlungu ngexesha lokugqibela lesi sifo.
Khumbula, awuwedwa. Kukho amaqela enkxaso kubazali babantwana abanesifo i-Alpers kunye nezinye izifo ze-mitochondrial. Ungabelana ngamava, wabelane ngezixhobo, kwaye ufumane iingcebiso ozifunayo.
Isifo sika-Alpert sisifo esiqhubekekayo esidla ngokuvela phakathi kweminyaka emi-4 neli-10 emva kokuqala kweempawu.
Ukuba uyazi ukuba olu jini lusebenza kusapho lwakho kwaye ulindele umntwana, kubaluleke kakhulu ukudibana nomcebisi wezemfuza uze uthethe naye. Baza kukunika iingcebiso kunye nenkxaso oyifunayo.
Umyalezo Wokuya Ekhaya
- Isifo se-Alpers sisifo esingaqhelekanga nesinzima kakhulu esichaphazela i-mitochondria.
- Oku kuchaphazela kakhulu ingqondo, isibindi kunye nemisipha, kwaye iimpawu eziphambili zisifo sokuwa, ukungasebenzi kakuhle kwesibindi kunye nokulahlekelwa yinkumbulo.
- Nangona kungekho nyango lwesi sifo, kukho unyango oluninzi oluxhasayo olufumanekayo lokulawula iimpawu kunye nokubonelela ngentuthuzelo kumguli.
- Ekubeni le yimeko yemfuza, akukho ndlela yokunciphisa umngcipheko. Ukuba kukho imbali yosapho, iingcebiso ngemfuza zibaluleke kakhulu.
- Ukunyamekela umntwana ogulayo ngolu hlobo ngumsebenzi onzima kakhulu, ngoko ke ukufumana inkxaso koogqirha, iinkonzo zokonga, kunye namaqela enkxaso kuya kukunceda.
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