Wetin na Batten Disease? Wetin yu nid fɔ no bɔt yu pikin

Sɔntɛnde, wi kin rili fred we wi si sik dɛn de kam pan wi smɔl pikin dɛn, nɔto so? Ɛspɛshali if wi nɔ no bɔku tin bɔt da sik de. Tide wi go tɔk bɔt wan kɔndishɔn we nɔ kin apin smɔl, bɔt we wi as mama ɛn papa fɔ no bɔt. Dɛn kɔl dis Batten Disease.

Fɔ tɔk am simpul wan, Batten Disease na wan grup fɔ di jenɛtik kɔndishɔn we de mek di dɔti tin dɛn we de na wi pikin dɛn bren sɛl dɛn bɔku. Jɔs lɛk di dɔti we kin gɛda na wi os if wi nɔ pul am na di rayt tɛm, na dis kin apin to di bren sɛl dɛn. Dis dɔti tin kin pwɛl di we aw di bren sɛl dɛn tan ɛn di we aw dɛn de wok, we dɔktɔ dɛn kin kɔl nyurodijɛnɛreshɔn. Afta sɔm tɛm, dɛn sɛl dɛn ya kin day. Dis na tin we rili sɔri, bikɔs Batten Disease kin kil pɔsin.

Yu dɔktɔ kin kɔl dis sik bak ``Nyuronal Sɛroyd Lipofuscinosis (NCL)``. Dat na di mɛrɛsin nem fɔ am.

Sɔm kɔmɔn sayn dɛm de wae kin kam pan ɔl kayn Batten sik. fכ egzampl, di sik we de mek i sik, we i de lכs di vishכn sכmtεm, εn di we aw pikin de tink εn rizin de chenj (prכblεm dεm we i de tink bכt). Dɛn sayn ya kin bigin we dɛn smɔl, we dɛn smɔl, ɔ we dɛn yɔŋ. Dɛn sayn ya kin wɔs wit di ej.

Nɔr kɔmplit mɛrɛsin nɔr de yet fɔ dis, so dɔktɔ dɛn kin tray fɔ kɔntrol di sayn dɛm ɛn gi di pikin di bɛst kwaliti fɔ liv.

Difrɛn kayn Batten Disease de?

Yɛs, naw, 14 kayn Batten sik de we dɛn no. Dɛn kin sheb dɛn tin ya akɔdin to di ej we di sik kin bigin. Sɔm pikin dɛn kin bigin fɔ sho di sayn dɛn we dɛn smɔl, ɔda wan dɛn we dɛn smɔl, sɔm we dɛn smɔl, ɔ ivin we dɛn smɔl.

Di nem fɔ ɛni wan pan dɛn kayn ya bigin wit di tri lɛta dɛn `CLN`. dat tinap fכ `(Sεroyd Lipofuscinosis, Nyuronal)`. Dat na di nem fɔ di jin we di sik afɛkt. Dɔn dɛn kin ad wan nɔmba frɔm 1 to 14.

di mכst kכmכn pan dεn wan ya na di tכp we dεn kכl `CLN3`. Dɛn kin kɔl dis bak `(juvenile Batten disease)`. di simptom dεm fכ `CLN3` kin bigin bitwin di ej dεm fכ 5 εn 15 ia.

Aw dis sik nɔ kin bɔku?

Dis na rili sik we nɔ kin apin so ɔltɛm. Dɔktɔ dɛn se na kɔntri lɛk Amɛrika, di chans fɔ gɛt dis sik na lɛk 3 pan ɔl 100,000 pikin dɛn we dɛn jɔs bɔn. Dis min se i nɔ kin izi fɔ si dis sik na Sri Lanka bak.

Wetin na di sayn dɛm fɔ Batten Disease?

As wi bin dɔn tɔk, pan ɔl we difrɛn kayn Batten sik de, bɔku tɛm di sayn dɛm kin kɔmɔn. Bɔt di ej we dɛn sik ya kin bigin kin difrɛn. De fɔs sayn wae kin apun na:

• Smɔl smɔl, i de go dɔŋ di vishɔn.Sɔntɛm yu pikin gɛt prɔblɛm fɔ no tin dɛn, ɔ yu notis se i de bang tin dɛn ɔltɛm.
• Di pikin in bihayvya ɛn in abit kin chenj wantɛm wantɛm. Dɛn kin trangayes pas aw dɛn bin de du trade, dɛn kin vɛks izi wan, ɔ dɛn nɔ kin bisin bɔt tin dɛn we dɛn bin de ɛnjɔy trade.
• Lכs bεlε εn i kin at fכ kכntrכl di limb dεm we yu de waka כ rכn (klumsiness). Di pikin kin tan lɛk se dɛn de fɔdɔm ɔltɛm.
• Di sik dɛn we kin mek pɔsin sik.

Apat frɔm dɛn tin ya, ɔda sayn dɛn kin sho. Dɛn na:

• Di abiliti fɔ tink, rizin, ɛn ɔndastand sɔntin we de go dɔŋ (cognitive function) .
• I nɔ izi fɔ tɔk. Dɛn kin slo fɔ bigin tɔk, dɛn kin tɔk smɔl smɔl, ɔ dɛn kin ripit di sem wɔd ɔ wɔd dɛn.
• Trem, di mכsul dεm we yu nכ want (tik, di mכsul dεm we de spam), כ we wan pat pan di bכdi de jεk wan wan (myoclonus).
• I nɔ kin izi fɔ mɛmba tin dɛn we bin dɔn apin trade, lɛk fɔ lɔs mɛmori we yu dɔn ol (dimɛnshɔn).
• Fɔ si ɔ yɛri tin dɛm wae nɔr rili de (hallucinations) ɔr de akt wae nɔr de tɔch wit rial tin (saykosis).
• Prɔblɛm dɛn we pɔsin kin gɛt we i de slip. Yu kin gɛt prɔblɛm fɔ slip ɔ yu kin wek ɔltɛm.
• di mכsul dεm stiff εn rigiditi, difεlεns fכ bεnd εn strεch (mכsul spasticity εn rigidity).
• Di trɛnk we de na di an ɛn di leg dɛn we nɔ gɛt bɛtɛ trɛnk.
• At sik, lɛk at bit we nɔr de bit ɔltɛm (arrhythmia), kin apin mɔr pan yɔŋ pipul dɛm ɛn yɔŋ pipul dɛm.

Imajin, pikin dɛn we gɛt Batten sik kin gro fɔs jɔs lɛk ɔda pikin dɛn. Dɛn kin go tru ɔl di divɛlɔpmɛnt maylston dɛm, lɛk fɔ kray, waka, tɔk, ɛn it fɔ dɛnsɛf. Bɔt afta dat, wantɛm wantɛm, da prɔgrɛs de kin stɔp, ɛn dɛn kin fɔgɛt ɛn nɔ kin ebul fɔ du wetin dɛn dɔn lan. Ɛspɛshali pan pikin dɛm wae dɛn sik kin bigin wae dɛn yɔŋ, de sik kin wɔs kwik kwik wan.

Wetin mek Batten Disease kin apin? Wetin na di kɔz?

Fɔ tɔk am simpul wan, dis kin apin bikɔs ɔf wan chenj na wi jin dɛn, we na wan jin we kin chenj. dis ``CLN`` jin de rispansabl fכ brok dכn εn pul west prodakt dεm we de bil insay wi sεl dεm. Jɔs lɛk di pɔsin we de pul di dɔti na wi os.

so, we difεkt כ mכtεshכn de na dis `CLN` jin, di pikin in bכdi nכ de ebul fכ pul dis sεl west fayn fayn wan. afta dat dis west – dεn na lipid, shuga, protin, εn כda tin dεm – de bigin fכ kכmכt insay di sεl dεm. Bɔku pan dis dɔti kin gɛda na di bren sɛl dɛn.

We dis dɔti kin gɛda, sɔm pat dɛn na di pikin in bɔdi kin stɔp fɔ wok fayn fayn wan. di nεv sεstem in patikyula nכ kin du in wok bitwin dis pila fכ west. Na dat mek dɛn sik ya we kin mek pɔsin in layf de pan denja kin apin.

Dis na sik we pɔsin kin gɛt frɔm in mama ɛn papa?

Yes, Batten sik naWan mɛtabolik disɔda we dɛn kin gɛt frɔm dɛn mama ɛn papa. Dis min se fɔ mek pikin gɛt di sik, in mama ɛn papa ɔl tu fɔ bi pipul dɛn we gɛt di jin we de chenj di sik. Di wan dɛn we gɛt di sik min se pan ɔl we di mama ɛn papa gɛt di muteshon, dɛn nɔ kin gɛt di sayn dɛn bikɔs na wan kɔpi nɔmɔ dɛn gɛt fɔ di jin.

insay mεdikal sayns, dεn kכl dis ``autosomal rεsεsiv`` inhεritεns. Dis min se di pikin go jɔs gɛt di sayn dɛn if i gɛt di jin we nɔ fayn frɔm in mama ɛn papa. I tan lɛk se ɔl tu di say dɛn na lɔtri tikɛt bi di sem.

Wetin na de prɔblɛm wae kin kam wit dis sik?

Dis na tru tin we rili sɔri. Bebi, pikin, ɛn ivin yɔŋ pipul dɛn kin day kwik kwik wan bikɔs ɔf Batten sik. De sik kin wɔs smɔl smɔl. Fɔ ɛgzampul, pikin we nɔ bin de si bɛtɛ igen fɔs, i kin dɔn blaynd ɔl. Dɔn bak, di mɔsul dɛn kin wik, we kin mek i nɔ ebul fɔ waka, ɛn leta i kin paralayz.

Wetin kin apin na dat we di sɛl dɛn day, dɔti tin dɛn kin gɛda insay dɛn, ɛn dɛn sɛl dɛn de nɔ kin ebul fɔ du dɛn wok. Dis kin afɛkt bak di we aw di pikin in insay pat dɛn de wok. we di כgan dεm nכ gεt di sכpכt we dεn nid frכm di sεl dεm, siriכs kכndishכn lεk di כgan dεm we de fεil kin apin.

Aw dɔktɔ dɛn kin no se pɔsin gɛt Batten Disease?

If dɔktɔ saspek Batten sik, dɛn go tek tɛm chɛk yu pikin fɔs. Dɛn go aks yu bak bɔt yu pikin in sik ɛn if ɛnibɔdi na yu famili dɔn gɛt dis kayn sik. Dɔn, dɛn kin du dɛn tɛst ya:

• Jɛnɛtik tɛst: Dis kin min fɔ tek smɔl pan di pikin in blɔd ɔ saliva ɛn sɛn am na lɛb fɔ mek dɛn tɛst am. na de dεn de luk fכ eni chenj כ mכtεshכn na di CLN jin dεm we wi bin dכn tכk bכt na di pikin in DNA. Dis jεnεtik tεst na di כnli we fכ kכnfכm fכ sכri se Batten sik de.
• Bayopsi: Insay dis tɛst, di dɔktɔ kin tek wan smɔl tisu na yu pikin in skin ɛn luk am ɔnda maykroskɔp. afta dat dεn kin luk fכ abnכmal akumuleshכn fכ tin dεm we dεn kכl lipofuscins (yכlכ-brawn dεposit dεm we mek wit fεt εn protin dεm) na di skin sεl dεm.
• Ay egzam: Fɔ chɛk di pikin in retina ɛn optik nɛv wɛlbɔdi, dɛn kin du wan tɛst we dɛn kɔl Ilɛktrorɛtinografi (ERG). dis de mכsu aw di rεtina de ansa to layt.

Apat frɔm dat, dɛn kin du ɔda blɔd tɛst ɛn imej tɛst fɔ no ɔda tin dɛn we kin mek pɔsin gɛt di sem kayn sik.

Yu tink se tritmɛnt de fɔ dis?

As wi bin dɔn tɔk bifo tɛm, dɛn stil nɔ gɛt kɔmplit mɛrɛsin fɔ Batten Disease.So, di men gol fɔ dɔktɔ dɛn we de na tritmɛnt na fɔ kɔntrol di sik dɛn, fɔ gi di pikin kɔmfɔt, ɛn fɔ gi yu ɛn yu famili di sɔpɔt we dɛn nid insay dis tranga tɛm.

Nɔto wan dɔktɔ kin trit dis, bɔt na wan tim we gɛt spɛshal pipul dɛn we kɔmɔt na difrɛn say dɛn kin trit am. Dɛn kin yuz tin dɛn lɛk:

• Mɛrɛsin: Fɔ ɛgzampul, dɛn kin gi mɛrɛsin fɔ kɔntrol di sik we de mek pɔsin sik ɔ fɔ ridyus tin dɛn lɛk di tin dɛn we wi bin dɔn tɔk bɔt.
• Fyzikal tritmɛnt ɛn wok tritmɛnt: Dɛn tritmɛnt ya kin ɛp fɔ mek di mɔsul dɛn nɔ stif, ɛp di pikin fɔ du tin dɛn fɔ insɛf fɔ lɔng tɛm, ɛn ɛp am fɔ waka.
• Mental hεlth kכnsεl εn tεrapi: Fכ gεt diagnosis lεk dis kin tranga fכ di pikin εn di mama εn papa fכ bia wit. So, i rili impɔtant fɔ gɛt saykilɔjik sɔpɔt.

Imajin, we yu kam fɔ no se yu pikin go day jisnɔ wit dis sik, aw i go afɛkt yu ɛn yu famili pan yu maynd? So, saykolojik advays impɔtant na tɛm lɛk dis. Dɔn bak, sɔpɔt grup dɛn de usay yu kin jɔyn wit ɔda pipul dɛn we dɔn gɛt di sem kayn ɛkspiriɛns. Dɛn kin gi yu bɔku trɛnk.

Insay dis tɛm, di wan dɛn we de stɔdi bɔt dis de kɔntinyu fɔ fɛn nyu tritmɛnt fɔ di sik we dɛn kɔl Batten. Dɛn de fɛn nyu drɔgs, stem sɛl transplant, ɛn jin tɛrapi, we de riples di jin we nɔ fayn wit gud wan. Yu dɔktɔ kin tɛl yu pikin fɔ tek pat pan wan pan dɛn klinik trial ya.

Te nyu tritmɛnt dɛn kam, dɔktɔ dɛn kin pe atɛnshɔn mɔ pan fɔ kɔntrol di sik dɛn we de sho se dɛn gɛt am.

Yu tink se tritmɛnt de we dɛn dɔn gri fɔ naw?

Yes, naw wan mɛrɛsin de we di US FDA dɔn gri fɔ yuz fɔ pikin dɛn we gɛt di CLN2 kayn Batten sik. Dɛn kɔl am Sɛliponɛz alfa (Brineura®). Dis na injɛkshɔn we dɛn kin gi dairekt insay di wata we de rawnd yu pikin in bren ɛvri tu wik. dis dכg kin εp fכ delay di pikin fכ muv (e.g., kray, waka). Bɔt, i nɔ de kɔntrol ɔda sayn dɛn.

Wetin na di prɔgnosis fɔ dis sik?

Fɔ tɔk tru, di lukin-grɔn fɔ Batten sik nɔr rili fayn. As wi don tok, na sik we de kil pipul. De sik kin wɔs smɔl smɔl fɔ sɔm wik, mɔnt, ɔ ivin sɔm ia. As tɛm de go, di pikin kin blaynd ɔl, i nɔ kin ebul fɔ tɔk, waka, sidɔm in wan, ɔ tɔk to ɔda pipul dɛn. Di rit wae de sik kin wɔs kin difrɛn frɔm wan pikin to ɔda pikin.

A ɔndastand aw i kin mek a sɔprayz fɔ lan sɔntin lɛk dis. Bɔt, te yu pikin in bɔdi tɛl dɛn se, "A dɔn taya naw," lɛ dɛn ɛnjɔy dɛn pikin tɛm as i pɔsibul, ple, ɛn du di tin dɛn we dɛn lɛk. Insay dis tɛm, yu pikin nid yu lɔv ɛn sɔpɔt pas ɛni ɔda tɛm.

Yu go gɛt fɔ go to dɔktɔ ɔltɛm ɛn go na klinik fɔ mɛn yu pikin in sik. So yu nid fɔ wok klos wit di mɛdikal tim. Yu kin aks dɛn ɛni kwɛstyɔn we yu gɛt insay dis waka.

Apat frɔm we yu de sɔpɔt yu pikin, yu ɛn di ɔda pipul dɛn na yu famili nid bɔku sɔpɔt insay dis tɛm. Fɔ plan bifo tɛm fɔ di pikin we yu lɔs ɛn afta dat fɔ dil wit di sɔri-at afta dat na tin we rili at fɔ du. I nɔto sɔntin we yu wan go ebul fɔ du. So, if yu nid ɛp insay dis tranga tɛm, go to pɔsin we de advays yu bɔt mɛntɛl hεlth ɔr yu famili dɔktɔ (PCP). Yu kin tink bɔt fɔ advays, fɔ mɛn yu famili, ɔ fɔ jɔyn sɔpɔt grup.

Wetin na di layf we pikin we gɛt Batten Disease kin liv?

Bɔrku pikin dɛm wae gɛt Batten sik kin liv te dɛn big. Bɔt di layf we pikin kin liv kin difrɛn difrɛn wan bay di kayn sik we i gɛt ɛn aw di sik kin tranga. Fɔ ɛgzampul, pikin dɛn we gɛt dis sik we dɛn smɔl ɔ we dɛn smɔl, kin liv fɔ lɛk fayv to siks ia afta di sik bigin. Bɔt pikin we gɛt di sik lɛk aw i ol 10 ia kin liv te i rich 20 ia. Fɔ tɔk am simpul wan, di yɔŋ ej we di sik bigin, na di mɔ i de liv shɔt.

Wetin kin apin na di ɛnd-stej Batten sik?

di las stej fכ Batten sik na wan kכndyushכn we di pikin nid fכ kia fכ 24 awa insay di de . Dis tɛm ya, di pikin nɔ kin ebul fɔ grap na bed ɔ muf. Dɛn kin lɔs dɛn yay kpatakpata ɛn dɛn nɔ kin ivin ebul fɔ tɔk to yu.

Dis na di stej wae kin tranga pasmak pan Batten sik. Dɔktɔ dɛn kin du ɔl wetin dɛn ebul fɔ mek di pikin fil fayn ɛn nɔ gɛt pen as dɛn ebul. Insay dis las stej, di pikin in bɔdi kin stɔp fɔ wok smɔl smɔl.

Wan we de fɔ mek dɛn nɔ gɛt dis sik?

I sɔri fɔ no se naw, no we nɔ de fɔ mek dɛn nɔ gɛt Batten Disease. Bɔt if pɔsin na yu famili ɔ yu pikin gɛt dis sik ɛn yu de op fɔ gɛt ɔda pikin, i go fayn fɔ mek yu tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks. Wan jenɛtik tɛst kin no if yu ɛn yu patna ɔl tu gɛt di jin we de mek di sik. Dɔn dɔktɔ kin ɛp yu fɔ plan fɔ bɔn pikin.

Ustɛm yu fɔ go to dɔktɔ?

If yu tink se yu pikin gɛt sayn dɛn fɔ di sik we dɛn kɔl Batten, go to dɔktɔ wantɛm wantɛm. If yu no yu pikin kwik kwik wan, dat kin ɛp fɔ mek yu pikin in layf bɛtɛ to sɔm mak.

Dɔn bak, if sɔmbɔdi na yu famili gɛt dis sik ɛn yu de plan fɔ mek yu famili bɔku (gɛt pikin), tɔk to dɔktɔ bɔt aw fɔ advays yu jɛnɛtiks.

Wetin na di impɔtant kwɛstyɔn dɛn we wi fɔ aks di dɔktɔ?

We yu go to dɔktɔ, i go fayn fɔ aks dɛn kwɛstyɔn ya:

• Us kayn Batten Disease mi pikin gɛt?
• Us kayn tritmɛnt yu kin advays?
• Ɛni bad bad tin dɛn de we dɛn tritmɛnt dɛn de kin du?
• Us sayn dɛn a fɔ luk fɔ we mi pikin de gro?
• Wetin na di prɔgnosis?
• Ɛni sɔpɔt grup dɛn de we yu go rɛkɔmɛnd?

Yu tink se big pipul dɛnsɛf kin gɛt Batten Disease?

Yɛs, pan ɔl we i nɔ kin apin so ɔltɛm, big pipul dɛn kin gɛt sayn dɛn fɔ di sik we dɛn kɔl Batten. I kin apin arawnd di ej wae pɔrsin dɔn ol 30. If big pipul dɛn gɛt dis sik, bɔrku tɛm de sayn dɛm nɔr kin so bad. Dɔn bak, dɛn sayn ya we kin apin we pɔsin big nɔ kin mek di pɔsin in layf shɔt.

Fɔ dɔn, di tin we impɔtant pas ɔl we wi fɔ mɛmba na

No mama ɔ papa nɔ want fɔ yɛri se dɛn pikin gɛt sik we nɔ go mɛn ɛn i go day bifo i big. Na nɔmal tin fɔ fil bɔku pwɛl hat, sɔri, vɛks, ɛn pwɛl hat na dis kayn tɛm. Yu kin fil dɛn filin dɛn de.

I kin rili ɛp fɔ mit wit wan jenɛtik kɔlnɔ fɔ lan bɔt Batten Disease, wetin fɔ ɛkspɛkt, ɛn aw yu ɛn yu famili kin ɛp fɔ go na dis tranga waka.

Di tin we impɔtant pas ɔl na fɔ mɛmba se nɔto yu wangren de. Pan ɔl we no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl Batten sik, di wan dɛn we de stɔdi bɔt dis de kɔntinyu fɔ fɛn nyu tritmɛnt dɛn. Dɛn de chɛk sɔm mɛrɛsin dɛm wae kin kɔntrol di sik dɛm ɛn ɛp fɔ mek pikin in layf bɛtɛ.

Aks yu dɔktɔ bɔt sɔpɔt grup dɛm usay ɔda mama ɛn papa dɛn de go tru dis. We yu tɛl ɔda pipul dɛn bɔt yu ɛkspiriɛns ɛn lan frɔm ɔda pipul dɛn, dat kin mek yu gɛt bɔku trɛnk ɛn kɔrej yu insay dis tɛm.

` Batten Sik, Jɛnɛtik Sik, Nɛvɔ Sistɛm Sik, Pikin Sik, NCL, Simptom dɛm