Kuyini i-Batten Disease? Okudingeka ukwazi ngengane yakho

Ngezinye izikhathi sizizwa sesaba kakhulu uma sibona izifo ziza ezinganeni zethu ezincane, akunjalo? Ikakhulukazi uma singazi okuningi ngaleso sifo. Namuhla sizokhuluma ngesimo esingavamile kancane, kodwa okufanele thina njengabazali sisiqaphele. Lokhu kubizwa ngokuthi iBatten Disease.

Kalula nje, i-Batten Disease iyiqembu lezimo zofuzo ezibangela ukunqwabelana kwemikhiqizo engcolile emangqamuzaneni obuchopho bezingane zethu. Njengodoti oqongeleleka emakhaya ethu uma singawukhiphi ngesikhathi, yilokhu okwenzeka emangqamuzaneni obuchopho. Lo mkhiqizo ongcolile wonakalisa isakhiwo kanye nomsebenzi wamaseli obuchopho, odokotela abakubiza ngokuthi ukuwohloka kwemizwa. Ekugcineni, la maseli ayafa. Lesi yisimo esidabukisayo kakhulu, ngoba i-Batten Disease iyabulala.

Udokotela wakho angase futhi abize lesi sifo ngokuthi ``Neuronal Ceroid Lipofuscinosis (NCL)``. Lelo igama lezokwelapha laso.

Kunezimpawu ezithile ezivamile ezivamile kuzo zonke izinhlobo zesifo sikaBatten. Isibonelo, ukuquleka, ukulahlekelwa umbono kancane kancane, kanye nezinguquko endleleni ingane ecabanga futhi icabanga ngayo (izinkinga zokuqonda). Lezi zimpawu zingase ziqale ebuntwaneni, ebuntwaneni, noma ebudaleni. Lezi zimpawu zivame ukuba zimbi kakhulu njengoba iminyaka ikhula.

Akukho ukwelashwa okuphelele kwalokhu okwamanje, ngakho odokotela bazama ukulawula izimpawu futhi banikeze ingane impilo engcono kakhulu.

Ingabe kunezinhlobo ezahlukene zesifo sikaBatten?

Yebo, okwamanje kunezinhlobo ezingu-14 ezaziwayo zesifo sikaBatten. Lezi zihlukaniswa ngokweminyaka lapho izimpawu ziqala khona. Ezinye izingane ziqala ukukhombisa izimpawu zisencane, ezinye zisencane, ezinye zisencane, noma ngisho nasebusheni bokuqala.

Igama lalolu hlobo ngalunye liqala ngezinhlamvu ezintathu ezithi `CLN`. Lokho kusho ukuthi `(Ceroid Lipofuscinosis, Neuronal)`. Lelo igama lejini elithintekile. Bese kufakwa inombolo kusukela ku-1 kuya ku-14.

Okuvame kakhulu kulezi uhlobo olubizwa ngokuthi `CLN3`. Lokhu kubizwa nangokuthi `(isifo se-juvenile Batten)`. Izimpawu ze-`CLN3` zivame ukuqala phakathi kweminyaka emi-5 neyi-15.

Kungavamile kangakanani lesi sifo?

Empeleni lesi yisifo esingavamile kakhulu. Ngokusho kodokotela, ezweni elifana neMelika, ingozi yalesi sifo cishe ingama-3 kwangu-100,000 asanda kuzalwa. Lokhu kusho ukuthi akuvamile kakhulu ukubona lesi sifo naseSri Lanka.

Ziyini izimpawu zesifo sikaBatten?

Njengoba sishilo ekuqaleni, nakuba kunezinhlobo ezahlukene zesifo sikaBatten, isikhathi esiningi izimpawu zivamile. Kodwa-ke, iminyaka lapho lezi zimpawu ziqala khona ingahluka. Izimpawu zokuqala ezingase zivele yilezi:

• Ukubona kuncipha kancane kancane.Mhlawumbe ingane yakho inenkinga yokubona izinto, noma uyaqaphela ukuthi ihlala ingqubuzana nezinto.
• Izinguquko ezingazelelwe ekuziphatheni nasekubuntwini kwengane. Bangase babe nenkani kakhulu kunangaphambili, bathukuthele kalula, noma baphelelwe yisithakazelo ezintweni ababezijabulela ngaphambili.
• Ukulahlekelwa ibhalansi kanye nobunzima bokulawula izitho zomzimba lapho uhamba noma ugijima (ukungakhululeki). Ingane ingase ibonakale sengathi iyawa njalo.
• Ukuquleka.

Ngaphezu kwalokhu, kungase kuvele ezinye izimpawu. Lezi yizi:

• Ukwehla kwekhono lokucabanga, ukucabanga, nokuqonda okuthile (umsebenzi wokuqonda)
• Ubunzima bokukhuluma. Bangase bephuze ukuqala ukukhuluma, bangase bangingizi, noma bangase baphinde amagama noma imishwana efanayo.
• Ukuthuthumela, ukufinyela kwemisipha okungahleliwe (ukushukuma, ukuqaqamba kwemisipha), noma ukugxumagxuma okungazelelwe kwengxenye yomzimba (i-myoclonus).
• Ubunzima bokukhumbula izenzakalo zesikhathi esidlule, njengokulahlekelwa inkumbulo ekugugeni (dementia).
• Ukubona noma ukuzwa izinto ezingekho ngempela (ukuphupha izinto ezingekho) noma ukwenza izinto ngendlela engahambisani neqiniso (i-psychosis).
• Izinkinga zokulala. Ungase ube nenkinga yokulala noma ukuvuka njalo.
• Ukuqina kwemisipha nokuqina, ubunzima bokugoba nokwelula (ukuqaqamba kwemisipha nokuqina).
• Ukuncipha kwamandla ezingalweni nasemilenzeni.
• Isifo senhliziyo, njengokushaya kwenhliziyo okungajwayelekile (i-arrhythmia), singavela, ikakhulukazi kubantu abasha kanye nabasha.

Cabanga nje, izingane ezinesifo sikaBatten ziqala ukukhula njengezinye izingane. Zidlula kuzo zonke izigaba zokukhula, njengokukhasa, ukuhamba, ukukhuluma, nokudla zodwa. Kodwa-ke, ngokuzumayo, leyo ntuthuko iyama, bese zikhohlwa futhi zingakwazi ukwenza lokho ezikufundile. Ikakhulukazi ezinganeni eziqala izimpawu zazo zisencane, lesi simo siba sibi kakhulu ngokushesha okukhulu.

Kungani kwenzeka i-Batten Disease? Iyini imbangela?

Kalula nje, lokhu kubangelwa ushintsho kumajini ethu, ukuguquka kwezakhi zofuzo. Le jini ethi "CLN" inesibopho sokubhidliza nokususa imfucuza enqwabelana ngaphakathi kwamaseli ethu. Njengomuntu okhipha udoti endlini yethu.

Ngakho-ke, uma kukhona iphutha noma ukuguquka kwezakhi zofuzo ze-'CLN', umzimba wengane awukwazi ukususa kahle le mfucuza yamangqamuzana. Khona-ke le mfucuza - lawa ama-lipid, ushukela, amaprotheni, njll. - iqala ukuqongelela ngaphakathi kwamangqamuzana. Iningi lale mfucuza liqongelela emaseli obuchopho.

Uma lokhu kungcola kuqongelela, izingxenye zomzimba wengane ziyayeka ukusebenza kahle. Isimiso sezinzwa ikakhulukazi asikwazi ukwenza umsebenzi waso phakathi kwale nqwaba yokungcola. Yingakho kuvela lezi zimpawu ezisongela ukuphila.

Ingabe lesi isifo esizuzwe njengefa?

Yebo, isifo sikaBatten sikhonaIsifo sokuguquguquka kwezakhi zofuzo esizuzwe njengefa. Lokhu kusho ukuthi ukuze ingane ibe nalesi sifo, bobabili abazali kumele babe ngabathwali bokuguqulwa kwezakhi zofuzo okubangela lesi sifo. Abathwali basho ukuthi yize abazali benokuguqulwa kwezakhi zofuzo, ababi nezimpawu ngoba banekhophi eyodwa kuphela yezakhi zofuzo.

Kwezesayensi yezokwelapha, lokhu kubizwa ngokuthi ifa elithi "autosomal recessive". Lokhu kusho ukuthi ingane izoba nezimpawu kuphela uma izuza ifa lesakhi sofuzo esingalungile kunina nakuyise. Kufana nokuthi izinhlangothi zombili zethikithi lelotho ziyafana.

Yiziphi izinkinga ezingaba khona ngenxa yalesi sifo?

Lokhu kuyiqiniso elidabukisayo ngempela. Izinsana, izingane, ngisho nabantu abadala abasebasha bangafa ngokushesha ngenxa yesifo sikaBatten. Izimpawu ziya ziba zimbi kancane kancane. Isibonelo, ingane eqala ukulahlekelwa umbono kancane ingagcina isiyimpumputhe ngokuphelele. Futhi, imisipha ingase ibe buthakathaka, kwenze kube nzima ukuhamba, futhi ekugcineni kungaba nokukhubazeka.

Okwenzekayo ukuthi lapho amaseli efa, imfucuza iyanqwabelana ngaphakathi kwawo, futhi lawo maseli awakwazi ukwenza imisebenzi yawo. Lokhu kuthinta nendlela izitho zangaphakathi zengane ezisebenza ngayo. Uma izitho zingatholi ukwesekwa ezikudingayo kumaseli, izimo ezingathi sína njengokwehluleka kwezitho zingase zenzeke.

Odokotela bahlonza kanjani isifo sikaBatten?

Uma udokotela esola ukuthi unesifo sikaBatten, uzoqala ngokuyihlola ngokucophelela ingane yakho. Bazokubuza nangezimpawu zengane yakho nokuthi ngabe kukhona yini emndenini wakho oke waba nezimo ezifanayo. Ngemuva kwalokho, bangenza izivivinyo ezilandelayo:

• Ukuhlolwa kwezakhi zofuzo: Lokhu kuhilela ukuthatha inani elincane legazi noma amathe engane bese ulithumela elabhorethri ukuze lihlolwe. Lapho, bafuna noma yiziphi izinguquko noma izinguquko ezakhiweni zezakhi zofuzo ze-CLN okukhulunywe ngazo ngaphambilini ku-DNA yengane. Lokhu kuhlolwa kwezakhi zofuzo kuyindlela kuphela yokuqinisekisa ukuthi isifo sikaBatten sikhona.
• I-Biopsy: Kulolu vivinyo, udokotela uthatha ingxenye encane yezicubu esikhumbeni sengane yakho ayibuke ngaphansi kwesibonakhulu. Bangabheka ukunqwabelana okungavamile kwezinto ezibizwa ngokuthi ama-lipofuscins (ama-deposit aphuzi ansundu akhiwe ngamafutha namaprotheni) emaseli esikhumba.
• Ukuhlolwa kwamehlo: Ukuze kuhlolwe impilo ye-retina kanye ne-optic nerve yengane, kwenziwa ukuhlolwa okubizwa ngokuthi i-Electroretinography (ERG). Lokhu kulinganisa indlela i-retina esabela ngayo ekukhanyeni.

Ngaphezu kwalokho, kungase kwenziwe okunye ukuhlolwa kwegazi kanye nokuhlolwa kwezithombe ukuze kukhishwe ezinye izimo ezingase zibangele izimpawu ezifanayo.

Ingabe ikhona indlela yokwelapha lokhu?

Njengoba sesishilo ngaphambili, akukabikho ikhambi eliphelele lesifo sikaBatten.Ngakho-ke, umgomo oyinhloko wodokotela ekwelapheni ukulawula izimpawu, ukunikeza induduzo enganeni, nokunikeza wena nomndeni wakho ukwesekwa abakudingayo phakathi nalesi sikhathi esinzima.

Lokhu akwelashwa udokotela oyedwa, kodwa yithimba lochwepheshe abavela emikhakheni ehlukene. Bangase basebenzise izinto ezifana nalezi:

• Imithi: Isibonelo, imithi inganikezwa ukulawula ukuxhuzula noma ukunciphisa izinto ezifana nokubona izinto ezingekho esikushilo.
• Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi: Lokhu kwelashwa kungasiza ekunciphiseni ukuqina kwemisipha, kusize ingane ukuba yenze izinto yodwa isikhathi eside ngangokunokwenzeka, futhi kuyisize ihambe.
• Ukwelulekwa kanye nokwelashwa ngempilo yengqondo: Ukuthola ukuxilongwa okufana nalokhu kungaba nzima kakhulu enganeni nakubazali ukubhekana nakho. Ngakho-ke, kubaluleke kakhulu ukuthola ukwesekwa kwengqondo.

Cabanga nje, uma uthola ukuthi ingane yakho izoshona maduze ngenxa yalesi sifo, ingakanani ithonya lengqondo elizoba nalo kuwe nomndeni wakho? Ngakho-ke, ukwelulekwa ngokwengqondo kubalulekile ngesikhathi esinjengalesi. Futhi, kunezinhlangano zokusekela lapho ungajoyina khona nabanye abaye baba nokuhlangenwe nakho okufanayo. Bangakunika amandla amaningi.

Okwamanje, abacwaningi bayaqhubeka nokuthola izindlela ezintsha zokwelapha isifo sikaBatten. Baphenya ngemithi emisha, ukufakelwa kwamaseli e-stem, kanye nokwelashwa kwezakhi zofuzo, okuthatha indawo yezakhi zofuzo ezinephutha ngezakhi zofuzo ezinhle. Udokotela wakho angase asikisele ukuthi ingane yakho ihlanganyele kolunye lwalezi zivivinyo zemitholampilo.

Kuze kube yilapho ukwelashwa okusha kutholakala, odokotela bagxila kakhulu ekulawuleni izimpawu.

Ingabe kukhona ukwelashwa okuvunyelwe njengamanje?

Yebo, okwamanje kukhona umuthi owodwa ovunyelwe yi-US FDA ukuthi usetshenziswe ezinganeni ezinesifo se-CLN2 sohlobo lwe-Batten. Ubizwa ngokuthi i-Cerliponase alfa (Brineura®). Lona umjovo onikezwa ngqo oketshezini oluzungeze ubuchopho bengane yakho njalo emavikini amabili. Lo muthi ungasiza ekubambezeleni ikhono lengane lokunyakaza (isb., ukukhasa, ukuhamba). Kodwa-ke, awulawuli ezinye izimpawu.

Iyini inkomba yokubikezela lesi sifo?

Uma sikhuluma iqiniso, umbono wesifo sikaBatten awumuhle neze. Njengoba sesishilo kakade, yisifo esibulalayo. Izimpawu ziya ngokuya ziba zimbi kakhulu esikhathini esingamasonto, izinyanga, noma ngisho neminyaka. Ekugcineni, ingane ingase ibe yimpumputhe ngokuphelele, ingakwazi ukukhuluma, ukuhamba, ukuhlala yodwa, noma ukuxhumana nabanye. Izinga lapho izimpawu ziba zimbi khona lingahluka kuye ngengane.

Ngiyaqonda ukuthi kuyashaqisa kangakanani ukufunda into efana nale. Kodwa, kuze kube yilapho umzimba wengane yakho umtshela ukuthi, "Ngikhathele manje," mayijabulele ubuntwana bayo ngangokunokwenzeka, idlale, futhi yenze izinto ezithandayo. Phakathi nalesi sikhathi, ingane yakho idinga uthando lwakho nokusekelwa kwakho kunanini ngaphambili.

Kuzodingeka uvakashele odokotela njalo futhi uye emitholampilo ukuze uphathe izimpawu zengane yakho. Ngakho-ke udinga ukusebenzisana eduze nethimba lezokwelapha. Ungababuza noma yimiphi imibuzo onayo phakathi nalolu hambo.

Ngaphezu kokusekela ingane yakho, wena nomndeni wakho wonke nidinga ukwesekwa okukhulu phakathi nalesi sikhathi. Ukuhlela kusengaphambili ukulahlekelwa ingane bese ubhekana nosizi ngemva kwalokho kuyinto enzima kakhulu ukuyenza. Akuyona into ongayenza wedwa. Ngakho-ke, uma udinga usizo phakathi nalesi sikhathi esinzima, bheka umeluleki wezempilo yengqondo noma udokotela wakho womndeni (PCP). Ungase uthande ukucabangela ukwelulekwa, ukwelashwa komndeni, noma ukujoyina iqembu lokusekela.

Ingakanani iminyaka yokuphila yengane enesifo iBatten?

Iningi lezingane ezinesifo sikaBatten liphila kuze kube yilapho selikhulile. Kodwa-ke, isikhathi sokuphila kwengane siyahlukahluka kuye ngohlobo lwesifo kanye nobunzima besifo. Isibonelo, izingane ezithola izimpawu zisencane noma zisencane zivame ukuphila iminyaka emihlanu kuya kweyisithupha ngemva kokuqala kwezimpawu. Kodwa-ke, ingane ethola izimpawu cishe eminyakeni eyi-10 ingaphila ize ifike eminyakeni engama-20. Kalula nje, uma izimpawu ziqala zisencane, isikhathi sokuphila sifushane.

Kwenzekani esifweni seBatten esisesigabeni sokugcina?

Isigaba sokugcina sesifo sikaBatten yisimo lapho ingane idinga ukunakekelwa amahora angama-24 ngosuku . Kuleli qophelo, ingane ingase ingakwazi ukuvuka embhedeni noma ukunyakaza. Ingase ilahlekelwe umbono wayo ngokuphelele futhi ingase ingakwazi ngisho nokukhuluma nawe.

Lesi yisigaba esinzima kakhulu sesifo sikaBatten. Odokotela benza konke okusemandleni abo ukwenza ingane ikhululeke futhi ingabi nobuhlungu ngangokunokwenzeka. Phakathi nalesi sigaba sokugcina, umzimba wengane uyayeka ukusebenza kancane kancane.

Ingabe ikhona indlela yokuvimbela lesi sifo?

Ngeshwa, okwamanje ayikho indlela yokuvimbela i-Batten Disease. Kodwa-ke, uma othile emndenini wakho noma ingane yakho enalesi sifo futhi ulindele omunye umntwana, kuwumqondo omuhle ukukhuluma nodokotela wakho mayelana nokwelulekwa ngofuzo. Ukuhlolwa kofuzo kungabonisa ukuthi wena nomlingani wakho nobabili ninezakhi zofuzo ezibangela lesi sifo. Udokotela angakusiza ukuthi uhlele ukuba nomntwana.

Kufanele ubonane nini nodokotela?

Uma ucabanga ukuthi ingane yakho inezimpawu zesifo sikaBatten, bona udokotela ngokushesha. Ukutholwa kusenesikhathi kungasiza ekuthuthukiseni ikhwalithi yokuphila kwengane yakho ngezinga elithile.

Futhi, uma othile emndenini wakho enalesi sifo futhi uhlela ukwandisa umndeni wakho (ukuba nomntwana), khuluma nodokotela mayelana nokwelulekwa ngofuzo.

Yimiphi imibuzo ebalulekile okufanele uyibuze udokotela?

Uma uya kudokotela, kuwumqondo omuhle ukubuza le mibuzo:

• Hlobo luni lwesifo se-Batten ingane yami enalo?
• Hlobo luni lokwelashwa olunconywayo?
• Ingabe ikhona imiphumela emibi kulezo zindlela zokwelapha?
• Yiziphi izimpawu okufanele ngiziqaphele njengoba ingane yami ikhula?
• Iyini iphrojekthi?
• Ingabe kukhona amaqembu okusekelana ongawancoma?

Ingabe abantu abadala nabo bangathola i-Batten Disease?

Yebo, nakuba kungavamile kakhulu, abantu abadala bangaba nezimpawu zesifo sikaBatten. Ngokuvamile kwenzeka cishe eminyakeni engama-30. Uma abantu abadala beba nalesi sifo, izimpawu azivamile ukuba zimbi kangako. Futhi, lezi zimpawu ezibonakala lapho umuntu ekhula azifinyezi isikhathi sokuphila.

Okokugcina, into ebaluleke kakhulu okudingeka siyikhumbule ukuthi

Akekho umzali ofuna ukuzwa ukuthi ingane yakhe inesifo esibulalayo futhi izofa ingakafiki ebudaleni. Kuvamile ukuzizwa udumele kakhulu, usizi, intukuthelo, kanye nokukhungatheka ngesikhathi esinjengalesi. Ungazizwa lezo mizwa.

Kungaba usizo kakhulu ukuhlangana nomeluleki wezakhi zofuzo ukuze ufunde nge-Batten Disease, ukuthi yini ongayilindela, nokuthi wena nomndeni wakho ningasiza kanjani kulolu hambo olunzima.

Into ebaluleke kakhulu ukukhumbula ukuthi awuwedwa. Nakuba kungekho ukwelashwa kwesifo sikaBatten, abacwaningi bayaqhubeka nokuthola izindlela ezintsha zokwelapha. Baphenya ngemithi eminingana engalawula izimpawu futhi ithuthukise ikhwalithi yokuphila kwengane.

Buza udokotela wakho ngamaqembu okusekelana lapho abanye abazali bedlula khona kulokhu. Ukwabelana ngolwazi lwakho nokufunda kwabanye kungaba umthombo omkhulu wamandla nenduduzo phakathi nalesi sikhathi.

Isifo sikaBatten , Izifo Zofuzo, Izifo Zesimiso Sezinzwa, Izifo Zezingane, I-NCL, Izimpawu