Yintoni iBatten Disease? Oko kufuneka ukwazi ngomntwana wakho

Ngamanye amaxesha siziva soyika kakhulu xa sibona izifo zisiza kubantwana bethu abancinci, akunjalo? Ingakumbi ukuba asazi kangako ngeso sifo. Namhlanje siza kuthetha ngemeko engaqhelekanga, kodwa esifanele siyiqaphele njengabazali. Oku kubizwa ngokuba yiBatten Disease.

Ngamafutshane, iBatten Disease liqela leemeko zemfuza ezibangela ukuqokelelana kwenkunkuma kwiiseli zengqondo zabantwana bethu. Kanye njengenkunkuma eqokelelana emakhayeni ethu ukuba asiyikhuphi ngexesha, oku kwenzeka kwiiseli zengqondo. Le nkunkuma yonakalisa ulwakhiwo kunye nomsebenzi weeseli zengqondo, oogqirha abathi yi-neurodegeneration. Ekugqibeleni, ezi seli ziyafa. Le yimeko ebuhlungu kakhulu, kuba iBatten Disease iyabulala.

Ugqirha wakho angasibiza esi sifo ngokuthi ``Neuronal Ceroid Lipofuscinosis (NCL)``. Elo ligama lezonyango laso.

Kukho iimpawu eziqhelekileyo ezixhaphakileyo kuzo zonke iintlobo zesifo sikaBatten. Umzekelo, ukuxhuzula, ukulahleka kokubona kancinci kancinci, kunye notshintsho kwindlela umntwana acinga ngayo naqiqa ngayo (iingxaki zengqondo). Ezi mpawu zinokuqala ebuntwaneni, ebuntwaneni bokuqala, okanye ebudaleni. Ezi mpawu zidla ngokuba mandundu xa umntu ekhula.

Akukho nyango lupheleleyo lokunyanga oku okwangoku, ngoko oogqirha bazama ukulawula iimpawu baze banike umntwana ubomi obungcono kakhulu.

Ngaba kukho iintlobo ezahlukeneyo zeBatten Disease?

Ewe, okwangoku kukho iintlobo ezili-14 ezaziwayo zesifo sikaBatten. Ezi zahlulwe ngokweminyaka apho iimpawu ziqala khona. Abanye abantwana baqala ukubonisa iimpawu besebancinci, abanye besebancinci, abanye besebancinci, okanye kwanakwiminyaka yokuqala yokufikisa.

Igama lale ntlobo nganye liqala ngoonobumba abathathu abathi `CLN`. Oko kumela `(Ceroid Lipofuscinosis, Neuronal)`. Elo ligama lejini echaphazelekayo. Emva koko kongezwa inani eliqala ku-1 ukuya ku-14.

Eyona ixhaphakileyo kwezi ntlobo luhlobo olubizwa ngokuba yi-`CLN3`. Oku kukwabizwa ngokuba yi-`(isifo se-batten sabantwana abancinci)`. Iimpawu ze-`CLN3` zihlala ziqala phakathi kweminyaka emi-5 neli-15 ubudala.

Ingaba esi sifo sinqabile kangakanani?

Esi sisifo esingaqhelekanga ngokwenene. Ngokutsho koogqirha, kwilizwe elifana neMelika, amathuba okuba esi sifo sikhule amalunga ne-3 kwi-100,000 yeentsana ezisandul’ ukuzalwa. Oku kuthetha ukuba kunqabile kakhulu ukubona esi sifo naseSri Lanka.

Zithini iimpawu zesifo sikaBatten?

Njengoko besitshilo ngaphambili, nangona kukho iintlobo ezahlukeneyo zesifo sikaBatten, uninzi lwexesha iimpawu ziqhelekile. Nangona kunjalo, ubudala ezi mpawu ziqala ngabo bunokwahluka. Iimpawu zokuqala ezinokuvela zezi:

• Ukubona kuncipha kancinci kancinci.Mhlawumbi umntwana wakho unengxaki yokubona izinto, okanye uqaphela ukuba uhlala engqubana nezinto.
• Utshintsho olukhawulezileyo kwindlela umntwana aziphethe ngayo nabunjani bakhe. Basenokuba nenkani ngakumbi kunangaphambili, bacaphuke lula, okanye baphelelwe ngumdla kwizinto ababezithanda ngaphambili.
• Ukulahlekelwa kukulinganisela kunye nobunzima bokulawula amalungu omzimba xa ehamba okanye ebaleka (ukungakwazi ukuhamba kakuhle). Umntwana usenokubonakala ngathi uhlala ewa.
• Ukuxhuzula.

Ukongeza kwezi, ezinye iimpawu zinokuvela. Nazi:

• Ukuncipha kwamandla okucinga, ukuqiqa, nokuqonda into ethile (umsebenzi wokuqonda)
• Ubunzima bokuthetha. Basenokucotha ukuqala ukuthetha, basenokuthintitha, okanye baphinde amagama okanye amabinzana afanayo.
• Ukungcangcazela, ukushwabana kwemisipha ngokungazikhetheliyo (ukushukuma, ukuqaqamba kwemisipha), okanye ukuxhuzula ngequbuliso kwenxalenye yomzimba (i-myoclonus).
• Ubunzima bokukhumbula iziganeko zangaphambili, njengokulahlekelwa yinkumbulo ebudaleni (dementia).
• Ukubona okanye ukuva izinto ezingekhoyo (imibono) okanye ukwenza izinto ngendlela engafanelekanga (i-psychosis).
• Iingxaki zokulala. Usenokuba nengxaki yokulala okanye ukuvuka rhoqo.
• Ukuqina kwemisipha nokuqina, ubunzima bokugoba nokuzolula (ukuqina kwemisipha nokuqina).
• Ukuncipha kwamandla kwiingalo nasemilenzeni.
• Isifo sentliziyo, esifana nokubetha kwentliziyo okungahambelaniyo (arrhythmia), sinokubakho, ingakumbi kubantu abancinci nakubantu abaselula.

Khawucinge nje, abantwana abanesifo sikaBatten baqala bakhule njengabanye abantwana. Badlula kuzo zonke iinkalo zokukhula, njengokukhasa, ukuhamba, ukuthetha, nokutya bodwa. Kodwa ke, ngequbuliso, loo nkqubela iyayeka, baze balibale kwaye bangakwazi ukwenza oko bakufundileyo. Ingakumbi kubantwana abaneempawu eziqala besebancinci, imeko iba mandundu ngokukhawuleza.

Kutheni iBatten Disease isenzeka? Yintoni unobangela?

Ngamafutshane, oku kubangelwa lutshintsho kwiijini zethu, utshintsho kwiijini. Le jini ye-"CLN" inoxanduva lokuqhekeza nokususa inkunkuma eqokelelana ngaphakathi kwiiseli zethu. Njengomntu okhupha inkunkuma endlwini yethu.

Ngoko ke, xa kukho isiphene okanye utshintsho kwi-gene ye-'CLN', umzimba womntwana awukwazi ukususa ngokufanelekileyo le nkunkuma yeseli. Emva koko le nkunkuma - ezi zii-lipids, iiswekile, iiproteni, njl.njl. - iqala ukuqokelelana ngaphakathi kweeseli. Uninzi lwale nkunkuma luqokelelana kwiiseli zengqondo.

Xa le nkunkuma iqokelelana, amalungu omzimba womntwana ayayeka ukusebenza kakuhle. Ingakumbi inkqubo yemithambo-luvo ayikwazi ukwenza umsebenzi wayo phakathi kwale mfumba yenkunkuma. Yiyo loo nto ezi mpawu zisongela ubomi zibonakala.

Ngaba esi sisifo esizuzwe njengelifa?

Ewe, isifo sikaBatten siyintoIngxaki ye-metabolic ezuzwe njengelifa. Oku kuthetha ukuba ukuze umntwana abe nesi sifo, bobabini abazali kufuneka babe ngabathwali be-gene mutation ebangela esi sifo. Abathwali bathetha ukuba nangona abazali benale gene mutation, abanazo iimpawu kuba banekopi enye kuphela ye-gene.

Kwisayensi yezonyango, oku kubizwa ngokuba yi-"autosomal recessive" inheritance. Oku kuthetha ukuba umntwana uya kuba neempawu kuphela ukuba ufumana i-gene enesiphene kumama nakutata wakhe. Kufana nokuba amacala omabini etikiti lelotho afane.

Ziziphi iingxaki ezinokubakho zesi sifo?

Le yinyaniso ebuhlungu ngokwenene. Iintsana, abantwana, kwanabantu abadala abancinci banokufa ngokukhawuleza ngenxa yesifo sikaBatten. Iimpawu ziya ziba mandundu kancinci kancinci. Umzekelo, umntwana oqalayo ukubona kancinci usenokuphela eyimfama. Kwakhona, izihlunu zinokuba buthathaka, nto leyo ebangela ukuba kube nzima ukuhamba, kwaye ekugqibeleni kunokubangela ukukhubazeka.

Okwenzekayo kukuba xa iiseli zisifa, imveliso yenkunkuma iyaqokelelana ngaphakathi kuzo, kwaye ezo seli azikwazi ukwenza imisebenzi yazo. Oku kuchaphazela nendlela esebenza ngayo amalungu angaphakathi omntwana. Xa amalungu engafumani nkxaso ayidingayo kwiiseli, iimeko ezinzulu ezifana nokungasebenzi kakuhle kwamalungu omzimba zinokwenzeka.

Oogqirha bayixilonga njani iBatten Disease?

Ukuba ugqirha urhanela ukuba unesifo sikaBatten, uza kuqala amhlole umntwana wakho ngononophelo. Baza kukubuza nangeempawu zomntwana wakho kunye nokuba kukho nabani na kusapho lwakho okhe waba neemeko ezifanayo. Emva koko, banokwenza olu vavanyo lulandelayo:

• Uvavanyo lwemfuza: Oku kuquka ukuthatha igazi elincinci lomntwana okanye amathe akhe uze ulithumele kwilebhu ukuze livavanywe. Apho, bakhangela naluphi na utshintsho okanye utshintsho kwiijini ze-CLN ezikhankanyiweyo ngaphambili kwi-DNA yomntwana. Olu vavanyo lwemfuza yeyona ndlela yokuqinisekisa ngokuqinisekileyo ukuba isifo sikaBatten sikhona.
• I-Biopsy: Kolu vavanyo, ugqirha uthatha iqhekeza elincinci lesicwili eluswini lomntwana wakho aze alijonge phantsi kwe-microscope. Emva koko banokujonga ukuqokelelana okungaqhelekanga kwezinto ezibizwa ngokuba yi-lipofuscins (iidipozithi ezimthubi-mdaka ezenziwe ngamafutha kunye neeproteni) kwiiseli zesikhumba.
• Uvavanyo lwamehlo: Ukujonga impilo ye-retina kunye ne-optic nerve yomntwana, kwenziwa uvavanyo olubizwa ngokuba yi-Electroretinography (ERG). Olu vavanyo lulinganisa indlela i-retina esabela ngayo ekukhanyeni.

Ukongeza, ezinye iimvavanyo zegazi kunye novavanyo lwemifanekiso zinokwenziwa ukuze kuthintelwe ezinye iimeko ezinokubangela iimpawu ezifanayo.

Ngaba ikhona indlela yokunyanga oku?

Njengoko besitshilo ngaphambili, akukho nyango lupheleleyo lweBatten Disease okwangoku.Ngoko ke, injongo ephambili yoogqirha kunyango kukulawula iimpawu, ukunika intuthuzelo kumntwana, nokubonelela wena nosapho lwakho ngenkxaso abayidingayo ngeli xesha linzima.

Oku akunyangwa ngugqirha omnye, kodwa liqela leengcali ezivela kwiinkalo ezahlukeneyo. Bangasebenzisa izinto ezifana nezi:

• Amayeza: Umzekelo, amayeza anokunikwa ukulawula ukuxhuzula okanye ukunciphisa izinto ezifana nokubona izinto ezingekhoyo esizikhankanyileyo.
• Unyango lomzimba kunye nonyango lomsebenzi: Olu nyango lunokunceda ekunciphiseni ukuqina kwemisipha, luncede umntwana ukuba enze izinto eyedwa ixesha elide kangangoko kunokwenzeka, kwaye luncede ahambe.
• Unyango kunye neengcebiso ngempilo yengqondo: Ukufumana uxilongo olufana nolu kunokuba nzima kakhulu kumntwana nakubazali ukujongana nalo. Ke ngoko, kubaluleke kakhulu ukufumana inkxaso yengqondo.

Khawuthelekelele, xa ufumanisa ukuba umntwana wakho uza kufa kungekudala ngenxa yesi sifo, ingakanani impembelelo yengqondo enokuba nayo kuwe nakusapho lwakho? Ke ngoko, iingcebiso zengqondo zibalulekile ngexesha elinje. Kwakhona, kukho amaqela enkxaso apho unokuzibandakanya nabanye abaye baba namava afanayo. Banokukunika amandla amaninzi.

Okwangoku, abaphandi bayaqhubeka nokufumana unyango olutsha lwesifo sikaBatten. Baphanda amayeza amatsha, ukufakelwa kweeseli ze-stem, kunye nonyango lwezakhi zofuzo, oluthatha indawo yezakhi zofuzo ezinesiphako ngezakhi zofuzo ezilungileyo. Ugqirha wakho unokucebisa ukuba umntwana wakho athathe inxaxheba kwenye yezi zilingo zonyango.

De kube kufumaneka unyango olutsha, oogqirha bagxila kakhulu ekulawuleni iimpawu.

Ngaba kukho unyango oluvunyiweyo okwangoku?

Ewe, okwangoku kukho iyeza elinye elivunyiweyo yi-US FDA ukuba lisetyenziswe kubantwana abanesifo se-CLN2 seBatten. Libizwa ngokuba yiCerliponase alfa (Brineura®). Eli liyeza elinikwa ngqo kulwelo olujikeleze ingqondo yomntwana wakho rhoqo emva kweeveki ezimbini. Eli yeza linokunceda ukulibazisa amandla omntwana okushukuma (umz., ukukhasa, ukuhamba). Nangona kunjalo, alilawuli ezinye iimpawu.

Ithini ingxelo yokubikezela kwesi sifo?

Inyaniso kukuba, ikamva lesifo sikaBatten alilungile kangako. Njengoko sele sitshilo, sisifo esibulalayo. Iimpawu ziya zisiba mandundu kancinci kangangeeveki, iinyanga, okanye iminyaka. Ekugqibeleni, umntwana usenokuba yimfama ngokupheleleyo, angakwazi ukuthetha, ukuhamba, ukuhlala yedwa, okanye ukusebenzisana nabanye abantu. Izinga apho iimpawu ziba mandundu khona linokwahluka ukusuka komnye umntwana ukuya komnye.

Ndiyaqonda ukuba kuyothusa kangakanani ukufunda into efana nale. Kodwa, de umzimba womntwana wakho umxelele ukuba, "Ndidiniwe ngoku," mvumele onwabele ubuntwana bakhe kangangoko kunokwenzeka, adlale, kwaye enze izinto azithandayo. Ngeli xesha, umntwana wakho udinga uthando lwakho kunye nenkxaso yakho ngaphezu kwanini na ngaphambili.

Kuya kufuneka undwendwele oogqirha rhoqo kwaye uye kwiikliniki ukuze ulawule iimpawu zomntwana wakho. Ngoko ke kufuneka usebenzisane ngokusondeleyo neqela lezonyango. Ungababuza nayiphi na imibuzo onayo ngeli xesha lohambo.

Ngaphandle kokuxhasa umntwana wakho, wena kunye nosapho lwakho lonke nidinga inkxaso eninzi ngeli xesha. Ukuceba kwangaphambili ukulahlekelwa ngumntwana uze ujongane nentlungu emva koko yinto enzima kakhulu ukuyenza. Asinto onokuyenza wedwa. Ngoko ke, ukuba ufuna uncedo ngeli xesha linzima, bonana nomcebisi wezempilo yengqondo okanye ugqirha wakho wosapho (PCP). Usenokufuna ukuqwalasela iingcebiso, unyango losapho, okanye ukujoyina iqela lenkxaso.

Ingakanani iminyaka yobomi bomntwana onesifo sikaBatten?

Uninzi lwabantwana abanesifo sikaBatten baphila de babe badala. Nangona kunjalo, ubomi bomntwana buyahluka ngokuxhomekeke kuhlobo lwesifo kunye nobunzima besifo. Umzekelo, abantwana abafumana iimpawu besebancinci okanye ebuntwaneni badla ngokuphila iminyaka emihlanu ukuya kwemithandathu emva kokuqala kweempawu. Nangona kunjalo, umntwana ofumana iimpawu xa eneminyaka eli-10 ubudala unokuphila aze afikelele kwiminyaka engama-20 ubudala. Ngamafutshane, xa iimpawu ziqala zisencinci, ubomi bufutshane.

Kwenzeka ntoni kwisifo seBatten esikwinqanaba lokugqibela?

Inqanaba lokugqibela lesifo sikaBatten yimeko apho umntwana efuna ukunyanyekelwa iiyure ezingama-24 ngosuku . Ngeli xesha, umntwana usenokungakwazi ukuphuma ebhedini okanye ukushukuma. Basenokulahlekelwa yimbono yabo ngokupheleleyo kwaye basenokungakwazi nokuthetha nawe.

Eli lelona nqanaba linzima kakhulu kwisifo sikaBatten. Oogqirha benza konke okusemandleni abo ukwenza umntwana akhululeke kwaye angabi nantlungu kangangoko kunokwenzeka. Ngeli nqanaba lokugqibela, umzimba womntwana uyeka ukusebenza kancinci kancinci.

Ngaba ikho indlela yokuthintela esi sifo?

Ngelishwa, okwangoku akukho ndlela yokuthintela iBatten Disease. Nangona kunjalo, ukuba umntu kusapho lwakho okanye umntwana wakho unesifo kwaye ulindele omnye umntwana, kulungile ukuthetha nogqirha wakho malunga neengcebiso zemfuza. Uvavanyo lwemfuza lunokubonisa ukuba wena neqabane lakho nobabini ninemfuza ebangela esi sifo. Ugqirha unokukunceda ucwangcise ukuba nomntwana.

Ufanele uye nini kugqirha?

Ukuba ucinga ukuba umntwana wakho uneempawu zesifo sikaBatten, bonana nogqirha ngoko nangoko. Ukufunyaniswa kwangoko kunokunceda ukuphucula umgangatho wobomi bomntwana wakho ukuya kuthi ga kwinqanaba elithile.

Kwakhona, ukuba kukho umntu kusapho lwakho onesi sifo kwaye uceba ukwandisa usapho lwakho (ukuba nomntwana), thetha nogqirha malunga neengcebiso zemfuza.

Yeyiphi imibuzo ebalulekileyo ekufuneka uyibuze ugqirha?

Xa usiya kugqirha, kungcono ukubuza le mibuzo:

• Luhlobo luni lwesifo seBatten umntwana wam anaso?
• Luhlobo luni lonyango olucetyiswayo?
• Ngaba kukho naziphi na iziphumo ebezingalindelekanga kwezo ndlela zonyango?
• Zeziphi iimpawu ekufuneka ndiziqwalasele njengoko umntwana wam ekhula?
• Ithini ingqikelelo?
• Ngaba kukho amaqela enkxaso onokuwacebisa?

Ngaba abantu abadala nabo banokufumana isifo seBatten?

Ewe, nangona kunqabile kakhulu, abantu abadala banokubonakalisa iimpawu zesifo sikaBatten. Sidla ngokuvela xa bemalunga neminyaka engama-30 ubudala. Ukuba abantu abadala bafumana esi sifo, iimpawu azisoloko zimbi kangako. Kwakhona, ezi mpawu zibonakala xa bebadala azinciphisi ixesha lokuphila.

Okokugqibela, eyona nto ibalulekileyo ekufuneka siyikhumbule kukuba

Akukho mzali ofuna ukuva ukuba umntwana wakhe unesifo esinganyangekiyo kwaye uza kufa ngaphambi kokuba abe mdala. Kuqhelekile ukudana kakhulu, ukudakumba, umsindo, kunye nokukhungatheka ngexesha elinje. Ungaziva ezo mvakalelo.

Kunganceda kakhulu ukudibana nomcebisi wezemfuza ukuze ufunde ngeBatten Disease, into omawuyilindele, kunye nendlela wena nosapho lwakho eninokunceda ngayo ukuhamba kolu hambo lunzima.

Eyona nto ibalulekileyo kukukhumbula ukuba awuwedwa. Nangona kungekho nyango lwesifo sikaBatten, abaphandi bayaqhubeka nokufumana unyango olutsha. Baphanda amayeza aliqela anokulawula iimpawu kwaye aphucule umgangatho wobomi bomntwana.

Buza ugqirha wakho malunga namaqela enkxaso apho abanye abazali badlula khona koku. Ukwabelana ngamava akho nokufunda kwabanye kunokuba ngumthombo omkhulu wamandla nentuthuzelo ngeli xesha.

Isifo sikaBatten , Izifo zofuzo, Izifo zeNkqubo yeNervous, Izifo zabantwana, i-NCL, Iimpawu