Yu pikin gɛt dɛn sik ya? Mek wi tok abaut Canavan Disease

Yu gɛt ɛni dawt ɔ fred bɔt yu smɔl pikin in divɛlɔpmɛnt? Sɔntɛnde, we wi pikin dɛn de biev smɔl difrɛn frɔm ɔda pikin dɛn, ɔ we dɛn de delay fɔ divɛlɔp, wi kin wɔnda bɔt difrɛn tin dɛn. I rili impɔtant fɔ no di tɛm dɛn lɛk dis. Tide, wi go tɔk bɔt dis kayn sik we nɔ kin apin so ɔltɛm, bɔt we rili siriɔs. Dɛn kɔl dis Kanavan Sik.

Wetin na Kanavan Sik? Fɔ tɔk am simpul wan...

Kanavan Sik na wan sik we nɔ kin bɔku we pɔsin kin gɛt we i kam pan jɛnɛtiks . I kin afɛkt wi bren dairekt wan . Fɔ tɔk di kɔrɛkt tin, na nyurodijɛnɛraytiv kɔndishɔn. Dat min se as tɛm de go, di tin dɛn we nɔ kin apin na di bren kin bɔku smɔl smɔl ɛn i kin rili bad. Jɔs tink bɔt dat, wi bren nid sɔm impɔtant kemikal dɛn fɔ mek i wok fayn, nɔto so? Wɛl, we dis sik bigin, di bren nɔ kin gɛt wan impɔtant kemikal. Dis kin mek smɔl smɔl di bren kin tan lɛk spɔnj , lɛk pepa. Dɔn di bren nɔ kin ebul fɔ du in wok fayn fayn wan.

Kanavan sik de pan wan grup pan sik dεm we dεn kכl ``leukodystrophies.`` Dis dεm dεn tu na sik dεm we rili rεs, jεnεtik sik dεm. Dɛn kin afɛkt wi bren, spɛshal kɔd (dat na di nɛv kɔd we de insay di spayna), ɛn ɔda nɛv dɛn. Di sɔri tin na dat, dɛn sik ya kin wɔs as tɛm de go.

Wetin na di men kayn Kanavan Sik?

Wi kin si dis Kanavan sik insay tu men kayn. Dat min se, dɛn kin sheb am akɔdin to di tɛm we di sik bigin ɛn aw i kin tranga.

1. Infantil Kanavan Sik: .

Dis na di kayn we we dɛn kin gɛt mɔ , ɛn na di wan we kin rili bad bak . Bɔrku pikin dɛm wae gɛt Kanavan sik kin gɛt dis kayn. I sɔri fɔ no se bɔku tɛm, pikin dɛn we dɛn bɔn wit dis sik kin day we dɛn smɔl ɔ we dɛn yɔŋ.

2. Juvenail Kanavan Sik:

Dis kayn wae nɔr kin bɔrku ɛn nɔr kin tranga pas di kayn wae bin de bifo. De sayn dɛm nɔr kin so bad. Di bɛst tin na dat, i tan lɛk se dis kayn tin nɔ de mek pɔsin in layf shɔt.

Udat de pan big risk fɔ gɛt Kanavan Disease?

Fɔ tru, di sik we dɛn kɔl Kanavan kin afɛkt ɛnibɔdi . Na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks. Bɔt i kin apin mɔ na sɔm trayb dɛn. Speshali, i kin mɔna di Ashkenazi Ju pipul dɛn, we kɔmɔt na say dɛn lɛk di ist pat na Polan, Lituɛnia, ɛn di wɛst pat na Rɔshia. Pan dɛn wan ya, dɛn se wan pan ɛvri 6,400 to 13,500 pikin dɛn we dɛn bɔn kin gɛt dis sik.

Bɔt di tin we impɔtant pas ɔl we wi fɔ mɛmba na dat, bikɔs dis na sik we pɔsin kin gɛt frɔm in bɔdi, if dɛn mama ɛn papa ɔl tu gɛt di jin we de mek pɔsin gɛt di sik, pikin we kɔmɔt na ɛni trayb, ɛni kɔntri, kin gɛt dis sik.

Wetin mek Kanavan Sik kin apin? Wetin na di kɔz?

Fɔ tɔk am simpul wan, Kanavan sik na sik we pɔsin kin gɛt frɔm in mama ɛn papa . Dat min se, na frɔm mama ɛn papa dɛn kin gɛt am to pikin dɛn.

Di men rizin fɔ dis na we wan pan wi jin dɛn chenj. Dis jin de mek wan ɛnzaym we dɛn kɔl aspartoacylase (ASPA) . Tink bɔt dis ASPA ɛnzaym as spɛshal wokman na wi bren. I wok na fɔ brok wan kemikal we dɛn kɔl N-acetyl-aspartate (NAA) . Dis kemikal de na di bren.

Naw, pan pɔsin we gɛt Kanavan sik, di bɔdi nɔ de prodyuz inof pan dis `ASPA` ɛnzaym. Wetin kin apin da tɛm de? dat kεmikכl `NAA` de stat fכ kכmכt na di bren tisu. I tan lɛk west we kɔmɔt na faktri. we `NAA` de kכmכt lεk dis, i de pwεl di fεt layεr we dεn kכl `myelin` we lεk wan protεktiv kכva we de rawnd di nεv dεm na wi bren εn spεnal kכd. Dis maylin tan lɛk di plastic sheath we de rawnd ilɛktrik waya, i de ɛp di mɛsej dɛn we de na di nɛv fɔ travul fayn fayn wan, ɛn i de gi di nɛv dɛn tin fɔ it.

So, we dis maylin dɔn pwɛl, as tɛm de go di bren kin tan lɛk spɔnj ɛn i kin tɔn wata . Dat min se, bɔku smɔl smɔl say dɛn de insay di bren we ful-ɔp wit wata. Ɛn di bren nɔ kin ebul fɔ sɛn ɔ gɛt mɛsej dɛn we de na di nerv fayn fayn wan. Yu ɔndastand aw dis kin apin?

Wetin na di sayn dɛm fɔ Kanavan Disease? Aw dɛn kin no se i gɛt am?

Infantile Canavan Disease kin bigin fɔ sho di sayn dɛm bitwin 3 ɛn 6 mɔnt ej . Dɛn sayn ya nɔ kin apin wantɛm wantɛm, bɔt smɔl smɔl. As mama ɛn papa dɛn, una fɔ no bɔt dis.

Di men tin dɛn we pɔsin kin si na:

• di mכsul dεm we nכ de wok fayn: Dis min se sכmtεm di pikin in bכ di kin rili lכ s כ i kin tayt pasmak . Spɛshal wan, di trɛnk we di mɔsul dɛn gɛt kin ridyus. sכmtεm, di pikin kin fil "lεk wan pat pan klos we dεn tכn" we yu es am.
• di ed we big we nכ nכmal (macrocephaly): di pikin in ed kin bi abnכmal fכ in ej. Dɔn bak, i nɔ kin izi fɔ di pikin fɔ kɔntrol in ed fayn fayn wan. I nɔ kin ebul fɔ ol in nɛk fayn.
• Divɛlɔpmɛnt delay: Dis na di fɔs sayn we bɔku mama ɛn papa dɛn kin notis. Dɛn nɔ kin ebul fɔ du tin dɛn we ɔda pikin dɛn kin du, lɛk fɔ rɔl, sidɔm, kray, waka, ɛn tɔk.Dɛn pikin ya kin du tin dɛn rili let, ɔ dɛn nɔ kin du sɔm tin dɛn atɔl. fכ egzampl, we כda pikin dεm de tray fכ sidon we dεn rich 6-7 mכnt, dεn pikin ya nכ kin ebul fכ du am.
• I nɔ kin izi fɔ it ɛn swɛla: Di pikin kin gɛt prɔblɛm fɔ drink milk ɛn fɔ swɛla it. I kin fil lɛk se i de chok ɔltɛm.
• Lack of motor skills: Di ebul fɔ kɔntrol di bɔdi muvmɛnt de ridyus. sכm spεshal wan, di inability fכ kכntrol di limb dεm fayn fayn wan. sכmtεm dεn kin kכl dis "floppiness," we min se di bכdi de fil limp.
• Silent, unresponsive behavior: Di pikin kin rili kwayɛt. Ilɛksɛf yu gi am tɔys, i nɔ intres pan am. I nɔ de sho ɛni filin ɔ intres . I nɔ de smayl smɔl, i nɔ de kray bɛtɛ, ɔ ɔda we i de kɔntinyu fɔ de di sem.

Bɔku pikin dɛn we gɛt dɛn sik ya kin wɔs kwik kwik wan . We i ol 10 ia, prɔblɛm dɛn we kin mek pɔsin in layf de pan denja. Apat frɔm dat, ɔda kɔmplikeshɔn kin apin wit dis kɔndishɔn.

• I nɔ de yɛri fayn igen
• Intɛlektual disabiliti
• Di mɔsul dɛn we de spam
• Trɔbul fɔ swɛla kin bɔku
• We pɔsin nɔ de si fayn igen

Bɔt di wan dɛn we gɛt di juvenile Canavan disease we wi bin dɔn tɔk bɔt, we kin apin we dɛn yɔŋ, nɔ kin sho dɛn kayn bad bad sayn ya. Dɛn kin gɛt smɔl divɛlɔpmɛnt delay bak. I nɔ kin izi fɔ dɛn fɔ tɔk, ɔ dɛn kin biɛn ɔda pikin dɛn smɔl we dɛn de du skul wok. Bɔt, di sayn dɛm nɔr kin tranga lɛk dat.

Aw yu go no fɔ tru if yu gɛt Kanavan Disease?

If yu dɔktɔ sɔspɛkt Canavan sik bay di simptom dɛm we yu pikin gɛt, dɛn kin du sɔm tɛst fɔ kɔnfirm am.

• bכdi כ urine tεst: dεn tεst ya kin mכsu di lεvεl dεm fכ di kεmikכl we wi bin dכn tכk bכt `NAA` (N-acetyl-aspartate) כ di εnzym `ASPA` (aspartoacylase). Dɛn kin no bak if di jɛnɛtik chenj we de mek di sik de.
• di skin sεl tεst (kulchכr fibroblast dεm): sכmtεm, dεn kin gro wan spεshal tכp sεl (we dεn kכl kכlt fכs fכs) we dεn tek frכm di pikin in skin na di labכtכri εn dεn de tεst fכ di εnzym we dεn kכl ASPA.

Wetin wɔndaful na dat i pɔsibul fɔ no if pɔsin gɛt Kanavan sik bifo dɛn ivin bɔn pikin .

• Amniocentesis: dis involv fכ tek sכm sכm sεmpl fכ di wata (amniotic fluid) we de rawnd di pikin we i bεlε εn tεst am fכ NAA lεvεl. Bɔku tɛm, na yu kin du dis tɛst.bitwin 15 ɛn 20 wiks we uman gɛt bɛlɛ.
• Chorionic Villus Sampling (CVS): Dis tɛst de fɔ mama ɛn papa dɛn we gɛt ay risk fɔ gɛt Kanavan sik ɔ we no se sɔmbɔdi na dɛn famili gɛt di jin muteshon. insay dis tεst, dεn de tek sεmpl fכ di tisu frכm di pikin in plasεnta εn tεst fכ di jin mכtεshכn. dis kin bi bitwin 10 εn 12 wiks we uman bεlε.

Yu kin tɔk to yu dɔktɔ bɔt dɛn tɛst ya fɔ no mɔ.

Tritmɛnt de fɔ Kanavan Sik?

Infakt, no mɛrɛsin nɔ de yet fɔ mɛn di sik we dɛn kɔl Kanavan . Dis na di pat we rili sɔri. So, di men gol fɔ di tritmɛnt dɛn we dɛn de gi naw na fɔ kɔntrol di sik dɛn ɛn mek di pikin fil fayn fɔ lɔng tɛm.

Di tritmɛnt dɛn we yu kin gɛt naw kin bi:

• di tכb dεm we dεn kin gi fכ it: dεn kin yuz dεn tiub dεm ya fכ gi di pikin di nyutrishכn εn wata we i nid we i at fכ sכlow di it. Dis kin gi di pikin di ɛnaji we i nid.
• Antikonvulsant: Sɔm pikin dɛn kin gɛt sik we dɛn kɔl seizure. We dɛn kayn tin ya apin, dɔktɔ dɛn kin gi dɛn mɛrɛsin fɔ kɔntrol dɛn.
• Fyzikal tritmɛnt: Dis kin ɛp fɔ kɔrɛkt di pikin in pozishɔn, fɔ mek in mɔsul dɛn strɔng, ɛn fɔ mek i ebul fɔ tɔk to ɔda pipul dɛn.

Dɔn bak, fɔ tɛst di jɛnɛtiks ɛn fɔ advays di jɛnɛtiks rili impɔtant fɔ di wan ol famili. Tru dis, if dɛn bɔn ɔda pikin tumara bambay, i go pɔsibul fɔ ɔndastand di risk fɔ mek da pikin de gɛt dis sik bak.

Wetin go apin to pikin we gɛt Kanavan Disease tumara bambay?

We i kam pan di fiuja fɔ pɔsin we gɛt Kanavan sik, i kin dipen pan di kayn sik we i gɛt. Dat min se, ilɛksɛf na di kayn bebi ɔ di kayn yɔŋ pɔsin.

• Pikin dɛm we gɛt infantile Canavan disease kin liv te dɛn ol lɛk 10 ia. Sɔm pikin dɛn kin liv te dɛn ol 20 ia.
• Bɔt di layf we di wan dɛn we gɛt smɔl, yɔŋ Kanavan sik kin liv, kin jɔs bi nɔmal tin.

Di gud nyus na dat sayɛnsman dɛn dɔn no di jin we de mek pɔsin gɛt Kanavan sik. Apat frɔm dat, dɛn de du bɔku stɔdi fɔ fɛn tritmɛnt fɔ dis sik. Sɔm pan dɛn na:

• Jin tɛrapi: Dis kin tray fɔ kɔrɛkt di jin we nɔ fayn.
• sεntetik ASPA εnzym: dεn dכn mek dis εnzym fכ injεkt insay di bכdi.
• Stem sɛl tɛrapi: .Dis na nyu op bak.

If dis risach go wok fayn, di wan dɛn we gɛt kansa go gɛt di chans fɔ liv bɛtɛ layf tumara bambay.

Yu tink se dɛn kin ebul fɔ avɔyd Kanavan Sik?

Fɔ tru, dɛn nɔ go ebul fɔ avɔyd di sik we dɛn kɔl Kanavan bikɔs na wan sik we pɔsin kin gɛt we i kam pan jɛnɛtiks. Bɔt famili dɛn kin du DNA tɛst fɔ no if dɛn gɛt di jin we de mek pɔsin gɛt di sik. Di impɔtant tin na dat, na if dɛn mama ɛn papa ɔl tu kɛr di jin muteshɔn nɔmɔ dɛn pikin go gɛt di sik.

So, fɔ gɛt tɛst lɛk dis kin ɛp dɛn fɔ disayd di rayt tin bifo dɛn bɔn pikin.

Aks di dɔktɔ bɔt dɛn tin ya.

We yu kam fɔ no se yu pikin gɛt Kanavan sik, i nɔmal fɔ gɛt bɔku kwɛstyɔn dɛn na yu maynd. I impɔtant fɔ aks yu dɔktɔ bɔt tin dɛn lɛk:

• "Dɔkta, us kayn disabiliti mi pikin go gɛt? Ustɛm a fɔ ɛkspɛkt am?"
• "Dɔkta, wetin yu go tɛl mi bɔt mi pikin in layfspan?" (Pan ɔl we i at fɔ aks dis kwɛstyɔn, i kin impɔtant fɔ mek yu gɛt sɔm aidia.)
• "Wetin a go du fɔ mek mi pikin fil fayn ɛn sef?"
• "Us kain speshalis mi pikin shud si? Aw often dem shud si dem?"
• "I fayn fɔ mek di ɔda pipul dɛn na wi famili gɛt jenɛtik tɛst?"

Apat frɔm dɛn kwɛstyɔn ya, nɔ shem fɔ aks di dɔktɔ ɛnitin we yu gɛt, ilɛksɛf i smɔl.

Aw una as mama ɛn papa kin bia we yu pikin gɛt Kanavan Sik?

We yu gɛt prɔblɛm lɛk dis, i impɔtant fɔ mɛmba se nɔto yu wangren de. Sɔm tin dɛn de we go ɛp yu:

• Kɔnsul / Tɔk tɛrapi: Fɔ tɔk to pɔrsin wae yu kin tɔk to bɔt aw yu de fil, lɛk fɔ fil bad ɛn frayd, kin mek yu fil fayn.
• Sɔpɔt grup dɛn: We yu tɔk to ɔda mama ɛn papa dɛn we dɔn go tru di sem tin dɛn we yu dɔn go tru, dat kin mek yu gɛt bɔku trɛnk. I de gi yu di filin se "nɔto wi nɔmɔ de go tru dis."
• Join ɔganayzeshɔn dɛn we de sɔpɔt pasɛnt ɛn risach: Dɛn ɔganayzeshɔn ya de gi yu infɔmeshɔn, gayd, ɛn di chans fɔ kɔnɛkt wit ɔda pipul dɛn.

Mɛmba se yu maynd wɛlbɔdi bak rili impɔtant. Na if yu strɔng nɔmɔ yu go ebul fɔ kia fɔ yu pikin fayn fayn wan.

Fɔ dɔn, di tin dɛn we impɔtant pas ɔl fɔ mɛmba (Take-Home Message) .

Kanavan Disease na wan sik wae nɔr kin bɔrku, wae kin gɛt siriɔs jenɛtik disɔda wae kin afɛkt di wayt tin na di bren. Na nɔmal tin fɔ fil bad we yu yɛri dis. Bɔt nɔto yu wan de.. Tɔk to yu dɔktɔ bɔt di kia ɛn tritmɛnt we yu pikin nid. Aks bak if DNA tɛst fayn fɔ yu famili.

Pan ɔl we bɔku tɛm dis sik kin rili bad ɛn i kin mek pɔsin in layf de pan denja, na smɔl op we sayɛnsman dɛn kin kɔntinyu fɔ du risach bɔt nyu tritmɛnt dɛn. Nɔ lɔs op. Wi de wish yu ɛn yu pikin di trɛnk we dɛn nid.

` Kanavan Sik, Jɛnɛtik Sik, Bren Sik, Pikin Sik, Nyurolɔjik Sik, Divɛlɔpmɛnt Dilɛy, ASPA, NAA, Myelin, Jɛnɛtik Tɛst