I tan lɛk se yu pikin de ol tumɔs kwik? Lɛ wi lan bɔt Cockayne Syndrome!

Sɔntɛnde, wi kin rili fred we wi si sɔm chenj dɛn na di we aw wi pikin dɛn de gro, nɔto so? Ɛspɛshali we di pikin de biev difrɛn frɔm ɔda pikin dɛn, ɔ we wi si chenj dɛn na in bɔdi. Tide wi go tɔk bɔt dis kayn sik we nɔ kin apin bɔt we rili impɔtant fɔ no bɔt. Dat na di sik we dɛn kɔl Cockayne Syndrome. Yu kin wɔri we yu yɛri dis nem, bɔt lɛ wi tɔk bɔt am simpul wan ɛn klia wan.

Wetin rili na Kɔkayn Sindrom?

Fɔ tɔk am simpul wan, Cockayne Syndrome na wan sik we nɔ kin apin so ɔltɛm, we pɔsin kin gɛt frɔm in mama ɛn papa. insay dis, di sεl dεm na di pikin in bכdi nכ de divεlכp nכmal wan, εn dεn de sho sayn dεm fכ se i de ol bifo tεm (progeria) . Imajin, ivin we i smɔl, di we aw i tan ɛn sɔm tin dɛn we i de du na in bɔdi kin bigin fɔ tan lɛk ol pɔsin.

Along wit dis kכndyushכn, yu kin si sεvεra כda ki sayn dεm:

• Fɔ fil fayn to layt: Fɔ tɔk di kɔrɛkt tin, di skin kin bɔn kwik kwik wan we i de na di san, ɛn di yay dɛnsɛf nɔ kin fil fayn.
• Dwarfism: Di pikin in ayt ɛn wet kin smɔl pas aw i kin bi.
• Progressive dementia: As tɛm de go, tin lɛk mɛmori ɛn lan kin go dɔŋ smɔl smɔl.

Difrɛn kayn Kɔkayn Sindrom de?

Yɛs, tri men kayn tin de fɔ dis sik, ɛn ɛni wan pan dɛn kin gɛt difrɛn we aw i kin bigin ɛn aw i kin tranga.

1. Tayp 1 (klasik): Dis na di kayn we we pipul dɛn kin yuz mɔ. Di sayn dɛm kin bigin fɔ sho afta di pikin dɔn ol lɛk wan ia so. Dɛn sayn ya kin bɔku smɔl smɔl as tɛm de go.

2. Tayp 2 (congenital): Dis na di kayn we we kin rili bad. Dɛn kin si di sayn dɛn we dɛn kin si we dɛn bɔn am. Dɛn pikin ya kin divɛlɔp smɔl smɔl.

3. Tayp 3: Dis kin rili rare. De sayn dɛm nɔr kin so bad. Dɔn bak, dɛn sayn ya kin apin leta na layf.

Aw dis sik kin kɔmɔn?

Cockayne Syndrome na wan sik wae nɔr kin bɔrku. Dɛn ripɔt se dis sik kin apin to tu to tri pan ɛvri milyɔn pikin dɛn we dɛn jɔs bɔn na kɔntri dɛn lɛk Amɛrika ɛn Yurop. Dɛn kayn sik pipul ya kin de bak wan wan tɛm na Sri Lanka.

Wetin kin mek pɔsin gɛt Cockayne Syndrome?

Dis na tin we kɔmplikt smɔl, bɔt a go ɛksplen am simpul wan. di sεl dεm na wi bכdi gεt sכmtin we dεn kכl `DNA`. I tan lɛk buk we gɛt ɔl di tin dɛn we wi bɔdi nid fɔ wok. dis `DNA` kin damej fכ difrεn rizin dεm. Fɔ ɛgzampul:

• Radieshɔn we dɛn kin yuz
• Kεmikכl dεm we gεt pɔyzin
• Ultraviolet layt we de kɔmɔt na di san
• mכlikul dεm we nכ stebul we de fכm na wi bכdi (fri radikal dεm) .

nכmal wan, insay hεlty pכsin in bכdi, we dis ``DNA`` dεn dכn pwεl, spεshal mεkanism de fכ rεpair am. Jɔs lɛk we sɔntin brok na os, dɛn kin mek am fayn.

כltu, pan pikin dεm we gεt Cockayne Syndrome, dis `DNA` ripa prכsεs (`DNA ripair disorder`) nכ de wok fayn fayn wan. di rizin fכ dis na di mכtayshכn dεm na di jin dεm `ERCC6` כ `ERCC8`. dis jin dεm de εp fכ mek `DNA` ripa. so, we dεn jin dεm ya nכ de wok fayn, di damej pan `DNA` de kכmכt we dεn nכ rεpεr. Dɔn di sɛl dɛn nɔ kin ebul fɔ du dɛn wok fayn fayn wan. Na dat na di men rizin fɔ ɔl dɛn sik ya.

Wetin na di sayn dɛm wae de sho se yu gɛt Cockayne Syndrome?

Dis kכndyushכn kin afekt difrεn pat dεm na di bכdi. Lɛ wi tek wan luk pan wetin dɛn bi.

Di sayn dɛm we gɛt fɔ du wit di yay:

Di yay na wan pan di ɔgan dɛm we dis sik kin afɛkt pas ɔl.

• Di kɔlɔ we nɔ de na di retina na di yay.
• Klaud na di lens na di yay, we fiba katarakt.
• Krɔs yay (strabismus).
• Nɔ ebul fɔ lɔk di aylid dɛn ɔltogɛda.
• Fɔ si tin dɛn we de fa.
• Di kray wata we de kɔmɔt na di yay dɛn nɔ de bɔku.
• Optik atrofi we pɔsin kin gɛt.
• di rεtina de wik sכmtεm (Rεtina dεjεnεreshכn).
• di yay dεm we sכm pas nכmal saiz (maykroftalmia).
• Ay dɛn we dɔn sink (enophthalmos).

Di tin dɛn we pɔsin kin si na in fes:

Yu kin si sɔm patikyula tin dɛn bak pan di we aw pɔsin in fes tan.

• Di tut kin rɔtin bikɔs di tut nɔ de alaynɛd ​​fayn.
• di εlכb dεm de bi big pas nכmal εn de chenj in shep.
• Smɔl ed saiz (maykrosɛfali).
• Fɔ mek di nos tan.
• di protrushכn fכ di כp εn lכw jaw (prognathism).

Prɔblɛm dɛn we gɛt fɔ du wit ɔmon:

• Dilay we pɔsin kin rich fɔ bɔn pikin.
• Prɔblɛm dɛn we kin apin we pɔsin kin bɔn pikin.
• Testikul dεm we nכ dכn dכn na bכy pikin dεm.

di kכntribyushכn dεm we de fכ di nεv sεstem εn divεlכpmεnt:

Dɛn tin ya kin rili afɛkt di tin dɛn we di pikin de du ɛvride.

• di mכsul dεm we nכ stif (spasticity).
• Smɔl smɔl, di tin dɛn we pɔsin kin ebul fɔ tink bɔt kin go dɔŋ.
• divεlכpmεnt dilay (e.g., dilay we yu de waka, tכk).
• I nɔ izi fɔ tɔk (aphasia).
• Tremכr fכ di limb dεm (Essential tremor).
• Prɔblɛm wit muvmɛnt ɛn kɔdineshɔn (ataxia).
• I nɔ izi fɔ lan.
• Epileptic stet dεm `(Seizures)`.

Di sayn dɛm we gɛt fɔ du wit di skin:

• Di swet we de go dɔŋ (anhidrosis).
• I izi fɔ mek di skin wund ɛn gɛt skata.
• Fɔ fil kol we yu tɔch di skin.
• di blu kכla na di skin (saynosis) (especially na di limb dεm).

Ɔda tin dɛn we kin apin:

• Di ay blɔd prɛshɔn.
• fεt dεm we de rawnd di at (atherosclerosis).
• Di liva we de mek i big.
• Di ia we de grey bifo tɛm.
• di ayt εn di wet we de fa fawe pas di nכmal rεnj (dwarfism).
• I nɔ de yɛri fayn.
• Big big jɔyn dɛn.
• Mɔsul dɛn we de atrofi.
• Kyphosis we dɛn kɔl Kyphosis.
• An ɛn leg dɛn we nɔmal fɔ lɔng we yu kɔmpia am to shɔt bɔdi.

Impɔtant: Nɔto ɔl dɛn sik ya go apin to ɔl pikin, ɛn aw di sik kin tranga kin difrɛn frɔm wan pikin to ɔda pikin.

Aw dɛn kin no se pɔsin gɛt Cockayne Syndrome?

Dɔktɔ kin no dis sik bay we i de luk di pikin in klinik ficha ɛn patikyula tɛst rizɔlt. Di men tɛst dɛn we dɛn kin du na:

• jεnεtik tεst: dεn de tek bכdi sεmpl frכm di pikin εn tεst fכ mכtεshכn insay di jin dεm ERCC6 כ ERCC8.
• Skin biopsy: Dɛn kin tek smɔl pat pan di skin tisu ɛn tɛst am na lɛbɔtri fɔ no if di bɔdi ebul fɔ mek di DNA fayn. Pipul wae gɛt Cockayne Syndrome kin gɛt slo pas aw dɛn kin ripɛnt DNA.

Wan ɔda impɔtant tin de fɔ no bɔt dis sik. Dat min se, i impɔtant fɔ go to dɔktɔ we gɛt ɛkspiriɛns ɛn we sabi dis sik gud gud wan. Bikɔs ɔda sik dɛn de we gɛt di sem kayn sayn (e.g. `Hutchinson-Gilford progeria syndrome`, `Laron syndrome`, `Seckel syndrome`). So, fɔ mek dɛn ebul fɔ no di sik kɔrɛkt wan, i nid fɔ ebul fɔ no difrɛns bitwin dis frɔm dɛn kayn sik ya.

Wetin na di tritmɛnt dɛm fɔ Cockayne Syndrome?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl Cockayne Syndrome. Bɔt dat nɔ min se natin nɔ de we wi go ebul fɔ du. Di men gol fɔ tritmɛnt na fɔ mek dɛn nɔ gɛt ɛn trit di prɔblɛm dɛn we di sik kin kam wit. Dis nid fɔ gɛt sɔpɔt frɔm wan tim we gɛt dɔktɔ dɛn we gɛt difrɛn spɛshal pipul dɛn.

Lɛ wi luk sɔm tritmɛnt dɛn we yu kin gɛt:

Di kia fɔ dɛn tit:

• I nid fɔ de chɛk yu tit ɔltɛm fɔ mek yu nɔ gɛt ɛn trit yu tut.

Di kia fɔ di yay:

• Katarakt kin nid fɔ du ɔpreshɔn.
• Fɔ yay we krɔs, dɛn kin yuz ay mask fɔ mek di yay mɔsul dɛn we wik strɔng.
• Glas fɔ si tin we de nia.
• Sanglas fɔ protɛkt yu yay frɔm brayt layt.

Sɔpɔt fɔ gi nyutrishɔn:

• Sɔm pikin dɛn kin gɛt prɔblɛm fɔ swɛla it. insay dεn kayn kes dεm ya, dεn kin nid fכ gi it tru wan tכb we dεn put tru di nos insay di bεlε (nasogastric tכb) כ wan tכb we dεn put dεrekt insay di bεlε tru di skin (percutaneous endoscopic gastrostomy - PEG).

Di tritmɛnt dɛm fɔ tɔk, fɔ trit yu bɔdi, ɛn fɔ trit yu wok:

• divays dεm we de εp fכ mεnten di bכdi in nεchכral posishכn (e.g., kכsεt).
• Fizik tɛrapi ɛn ɔkupeshɔn tɛrapi tritmɛnt fɔ adrɛs chalenj dɛm lɛk fɔ waka.
• Tritmɛnt dɛm fɔ tɔk tɛrapi fɔ mek yu ebul fɔ tɔk ɛn swɛla pasmak.

Ɔda tritmɛnt dɛn:

• Speshal ɛdyukeshɔn program fɔ divɛlɔpmɛnt dilɛys.
• Mɛrɛsin ɔ spɛshal it fɔ kɔntrol di fat we de na di at.
• Ɛp fɔ yɛri fɔ pipul dɛn we nɔ de yɛri fayn.
• Mɛrɛsin fɔ kɔntrol di mɔsul dɛn we stif (spasticity), trem, ay blɔd prɛshɔn, ɛn epilepsy.
• Fɔ protɛkt yusɛf frɔm di san rili impɔtant. Dat min se yu nɔ fɔ de na di san, yu fɔ wɛr hat, ɛn wɛr klos we gɛt lɔng sliv.

Yu tink se dɛn kin ebul fɔ avɔyd di sik we dɛn kɔl Cockayne Syndrome?

Bikɔs dis na tin we pɔsin kin gɛt we i kam pan jɛnɛtiks, natin nɔ de we wi go du fɔ mek i nɔ apin. If dɛn bɔn pikin wit dis sik, i kin afɛkt dɛn fɔ ɔl dɛn layf.

Bɔt if yu de plan fɔ gɛt famili ɔ yu de op fɔ gɛt ɔda pikin, ɛn sɔmbɔdi na yu famili dɔn gɛt Kɔkayn Sindrom, i rili impɔtant fɔ gɛt kɔyl fɔ yu jɛnɛtiks ɛn tɛst yu jɛnɛtiks. dis tεst dεm kin tεl yu if yu εn yu patna gεt di ERCC6 כ ERCC8 jin mכtεshכn. If na so, pɔsin we de advays yu bɔt yu jɛnɛtiks kin ɛksplen to yu aw i go izi fɔ mek yu bɔn pikin we gɛt Kɔkayn Sindrom.

Wetin na di prɔgnosis fɔ pikin dɛm wae gɛt Cockayne Syndrome?

Cockayne Syndrome na wan sik wae de afekt aw pɔrsin de liv lɔng. Di pikin in fiuja de dipen pan di kayn sik we i gɛt.

• Tayp 1: Di avrej layfspan na bitwin 10 ɛn 20 ia.
• Tayp 2: Dɛn pikin ya nɔ kin liv pas we dɛn smɔl.
• Tayp 3: Bɔku pan dɛn pikin ya kin liv te dɛn big.

Aw e tan lɛk fɔ liv wit Kɔkayn Sindrom?

di pikin in evride layf de dipכnt pan di kayn Cockayne Syndrome wae dεn gεt. Sɔpɔt savis fɔ pikin dɛn we gɛt intɛlektual ɛn divɛlɔpmɛnt disabiliti kin ɛp fɔ mek dɛn layf izi smɔl. Di savis dɛm we de na os ɛn na di kɔmyuniti de fɔ ɛp wit di tin dɛm we dɛn kin du ɛvride. Yu kin ivin fɛn spɛshal soshal aktiviti dɛn.

Sɔm pikin dɛn kin go skul te dɛn nɔ ebul fɔ tink gud wan. Wan wan ɛdyukeshɔn plan (IEP) ɛn tichin ɛsista dɛn kin ɛp dɛn fɔ lan nia ɔda pikin dɛn. Bɔt pikin dɛn we gɛt dis sik nɔ kin bɛnifit bɛtɛ if dɛn go skul. Bifo dat, di tin dɛn we dɛn kin du ɛvride kin gɛt fɔ du wit mɛrɛsin ɛn tritmɛnt dɛn we go ɛp dɛn fɔ fil fayn.

I rili impɔtant: Pipul wae gɛt Cockayne Syndrome kin gɛt sɔm kayn mɛrɛsin wae nɔr kin izi fɔ dɛn.Mɔtalman, dɛn fɔ avɔyd mɛtronidazɔl, we na wan antibayɔtik we dɛn kin yuz fɔ mɛn infɛkshɔn. Dis mɛrɛsin kin mek dɛn liva nɔ wok fayn ɛn ivin day pan pipul dɛm wae gɛt Cockayne Syndrome. So, bifo yu gi ɛni mɛrɛsin, tɛl di dɔktɔ klia wan bɔt di pikin in kɔndishɔn.

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

Cockayne Syndrome na wan rare, inhɛrit kכndyushכn we kin kכz bay mכtεshכn insay di jin dεm ERCC6 כ ERCC8. I kin afɛkt pikin in yay, in sɛns, in skin, ɛn aw i luk. Pan ɔl we dɛn pikin ya kin liv shɔt pas aw dɛn kin liv, difrɛn tritmɛnt ɛn sɔpɔt savis dɛn kin mek dɛn fil fayn ɛn gɛt kwaliti layf.

If yu tink se yu pikin gɛt dɛn sik ya, i go fayn fɔ mek yu nɔ fred, bɔt yu fɔ go to dɔktɔ we sabi du di wok kwik kwik wan. If yu no di sik kɔrɛkt wan ɛn trit yu pikin kwik kwik wan, dat kin mek yu pikin fil fayn. Mɛmba se nɔto yu wan de, ɛn dɔktɔ dɛn ɛn bɔku ɔda pipul dɛn de we go ɛp yu fɔ du dis waka.

` Kכkεn sεndrכm, jεnεtik sik dεm, DNA rεpa, prεmature ol, divεlכpmεnt delay, fכtosεnsitiviti, sik dεm we nכ kin apin