Yu dɔn notis ɛni chenj we nɔ kɔmɔn na yu pikin in skin, in nel, ɔ insay in mɔt? Sɔntɛnde, dɛn tin ya kin tan lɛk se na nɔmal tin, bɔt sɔm kayn tin kin de we nɔ kin apin bikɔs ɔf dɛn jɛnɛtiks. Wan pan dɛn kayn tin ya na Dyskeratosis Congenita , sɔmtɛm dɛn kin shɔt am as (DC) ɔ (DKC). Dis kin tan lɛk se i kɔmplikt smɔl, bɔt lɛ wi kip am simpul ɛn izi fɔ ɔndastand.
Wetin rili na Dyskeratosis Congenita?
Fɔ tɔk am simpul wan, diskeratosis congenita na wan jɛnɛtik kɔndishɔn we nɔ kin apin so ɔltɛm. I kin afɛkt bɔku pat dɛn na yu pikin in bɔdi. Bɔku tɛm, di fɔs sayn dɛn kin apin na in skin, in nel, ɛn insay in mɔt bifo di pikin ol 10 ia. Na sɔm pikin dɛm, di fɔs sayn fɔ dis sik kin bi sɔntin lɛk we dɛn bon mɛro nɔ de wok fayn. Sɔntɛnde, dis kin mek i gɛt siriɔs prɔblɛm dɛn lɛk kansa, we i smɔl, we i yɔŋ, ɔ we i big.
Dis kכndyushכn we dεn kכl dyskeratosis congenita, de pan wan big grup fכ di tεlomεr bayoloji dizכrd dεm . Tink bɔt am lɛk di smɔl smɔl plastic kap dɛn we de na di ɛnd pan wi sus. dis dεm de na di εnd dεm na wi kromozom dεm – di strכkchכ dεm we gεt wi jin dεm (DNA). Dɛn tɛlomɛr dɛn ya de protɛkt wi jin dɛn. Na dεn de mek wi כgan dεm εn tisu dεm na wi bכdi de gro εn wok fayn fayn wan. Bɔt pan pikin we gɛt diskɛratɔsis kɔngenita, dɛn tɛlomɛr ya kin shɔt pas aw dɛn fɔ shɔt. Na dat mek difrɛn prɔblɛm dɛn kin kam.
Bɔku ɔda telomere disɔda dɛn de lɛk dɛn wan ya:
- Di sik we dɛn kɔl Hoyeraal Hreidarsson Syndrome (HH) .
- Revesz sindrom (RS) we gɛt di sik.
- Kot plus sindrom
Wetin na di sayn dɛm fɔ diskeratosis congenita?
Risach pipul dεm fכs no tri men kכntribyushכn dεm pan pikin dεm we gεt "klasik dyskeratosis congenita" (klasik DC):
1. di skin kכla we nכ nכmal: di skin na di pikin in nεk, כp chεst, εn in an kin apia insay mεsh כ les lεk pat. Di skin we di sik afɛkt kin layt ɔ dak pas di pikin in nɔmal skin kɔlɔ.
2. Nail deformities or loss: Yu kin notis rij ɔ krak na yu finga nel ɛn/ɔ yu fut nel. Dɛn kin pul, gro sloslo, ɔ shɔt pas aw i kin bi. Sɔntɛnde, yu nel dɛn kin shɔt pas aw i kin bi, ɔ dɛn kin dɔnawe wit dɛn kpatakpata. Dɛn chenj ya kin jɔs afɛkt sɔm nel dɛn, ɛn ɔda wan dɛn kin stil nɔmal.
3. Lukoplakia: Tik, wayt pat kin apia na di pikin in tong ɔ insay di chɛst.
Dɔktɔ dɛn kɔl dɛn tri sayn ya "mucocutaneous triad.""Muco" de tכk bכt di layn na di mכt, εn "cutaneous" de tכk bכt di skin. כltu, dyskeratosis congenita na wan rili komplεks kכndyushכn we de afekt εvri pikin difrεnt sכmtεm.
Fɔ ɛgzampul, sɔm pikin dɛn kin gɛt bon mɛrɔ we nɔ de wok fayn bifo dɛn tri sayn ya kam. Dɔn dɔktɔ dɛn kin no se dɛn gɛt diskɛratosis congenita we dɛn de du tɛst fɔ no wetin mek di bon mɛrɔ nɔ wok fayn.
Ɔda pikin dɛn kin gɛt bɔku difrɛn sayn dɛn we kin tan lɛk se dɛn nɔ gɛt natin fɔ du wit dɛnsɛf, bɔt na afta dɛn dɔn tɛst dɛn, na in dɔktɔ dɛn kin no se na di sik we dɛn kɔl dyskeratosis congenita.
Ɔda sayn dɛn we kin apin:
- Prɔblɛm dɛn we gɛt fɔ du wit di bon dɛn: Ɔstioporosis (di bon dɛn kin tan), di bon dɛn kin brok, ɛn di bon dɛn we de na di hip ɛn sholda dɛn kin gɛt avaskular nɛkrɔsis.
- Kansa: Lukimia, skin kansa , ed/nɛk squamous cell kansa.
- Bεlεns εn kכdכnayshכn prכblεm: Difεlεns wit tin dεm lεk fכ waka (ataxia).
- di prodakshכn fכ di sεks כmon dεm we de dכn (hypogonadism).
- di wik we di imyun sistεm de wik (immunodeficiency).
- Dɛn tit prɔblɛm: Di tut kin rɔtin pasmak, di tit kin lɔs.
- Divɛlɔpmɛnt dilɛys ɔ disabiliti.
- di εsophageal narrowing: Dis kin mek i nɔ izi fɔ swɛla, vɔmit, ɛn mek i gɛt mɔ wet.
- We pɔsin de swet pasmak.
- Di ia we de lɔs ɔ we i de grey bifo tɛm.
- Liva sik.
- Sik dɛn we kin kam na di lɔng.
- Short ayt .
- Smɔl ed `(maykrosɛfali)` .
- Yurethral we de smɔl .
- Wata yay ɛn aylid infekshɔn.
Wetin kin mek pɔsin gɛt diskɛratɔsis we dɛn bɔn wit?
Diskeratosis congenita de kכz fכ di jεnεtik vεryushכn/mכtεshכn . Speshali, as a bin dɔn tɔk, i kin afɛkt di jin dɛn we de kɔntrol aw yu pikin in telɔmɛri dɛn de wok .
we di tεlomεr dεm nכ de wok fayn, sכm pan di sεl dεm na di pikin in bכdi nכ kin wok fayn. Dis kin mek di blɔd sɛl dɛn nɔ de wok fayn, di ɔgan dɛn nɔ kin wok fayn, ɛn ɔda prɔblɛm dɛn kin apin.
Dis na sɔntin we kɔmɔt frɔm jɛnɛreshɔn?
Yes, diskeratosis congenita kin pas dכn frכm jεnereshכn to jεnereshכn. Pikin kin gɛt am frɔm wan pan in mama ɔ papa ɔ ɔl tu in mama ɛn papa. Bɔt i pɔsibul bak fɔ mek pikin gɛt am fɔ di fɔs tɛm, ilɛksɛf nɔbɔdi na di famili nɔ bin dɔn gɛt dis sik bifo.
Us jin dεm de involv fכ diskeratosis congenita?
Na sɔm pan di jin dɛm wae risach pipul dɛm kin gɛt fɔ du wit diskeratosis congenita ɛn telomere biology disorders:
``DKC1, TERC, TERT, TINF2, ACD, CTC1, DCLRE1B, NHP2, NOP10, NPM1, POT1, RPA1, STN1, TCAB1, PARN, RTEL1.`
Wetin na di poshubul kɔmplikeshɔn dɛm fɔ diskeratosis congenita?
Dis sik kin mek yu gɛt difrɛn prɔblɛm dɛn, sɔm pan dɛn na:
- Bɔn mɛrɔ we nɔ de wok fayn: Dis na di prɔblɛm we kin apin mɔ. Bɔku tɛm, i kin apin bifo i ol 30 ia.
- Pɔlmonari fibrosis we de na di bɔdi
- Myelodysplastic syndrome (MDS) (na prɔblɛm wit di we aw dɛn de mek blɔd sɛl dɛn na di bon mɛrɔ) .
- Akyu mayloid lukimiya (AML) (wan kayn blɔd kansa) .
- Kansa na ed ɛn nɛk
- Kansa na di skin
- Liva fibrosis we kin mek pɔsin gɛt fibrosis
Na us ej dɛn kin no se di sik we dɛn kɔl dyskeratosis congenita?
Bɔrku tɛm, dɛn kin no dis sik wae dɛn smɔl ɔr yɔŋ, bikɔs na da tɛm de di fɔs sayn dɛm kin sho. Bɔt sɔm pipul dɛn nɔ kin sho di sik te dɛn big, ɛn dɛn nɔ kin ivin no se dɛn gɛt dis sik.
Aw dɔktɔ dɛn kin no bɔt dis sik?
Dɔktɔ dɛn kin du dɛn tin ya fɔ no if pɔsin gɛt diskɛratɔsis we dɛn bɔn wit:
- Dɛn go aks yu bɔt di sik dɛn we yu pikin gɛt.
- Dɛn kin rivyu di pikin ɛn in famili in mɛdikal istri.
- Fɔ du wan ɛgzam fɔ yu bɔdi.
- Dɛn kin ɔda spɛshal tɛst dɛn.
Dɔktɔ dɛn kin luk fɔ di sayn dɛm we dɛn no bɔt di sik (lɛk we di skin kin chenj, di nel we kin chenj, wayt spat na di mɔt) ɛn afta dat dɛn kin yuz di tɛst rizɔlt fɔ kɔnfirm if dyskeratosis congenita na di kɔz fɔ dɛn sik dɛn de ɔ nɔto so.
Tɛst fɔ Diskɛratosis Kɔnjɛnita (DKC) .
Yu dɔktɔ kin ɔda fɔ mek dɛn du bɔku tɛst fɔ yu pikin. Sɔm go ɛp dairekt fɔ no di sik, ɛn ɔda wan dɛn kin sho ɔda sayn dɛm wae kin afɛkt yu pikin in wɛl bɔdi ɛn tritmɛnt plan.
di tu men tεst dεm fכ no di dyskeratosis congenita na:
- Flow cytometry: Dis de mכsu aw lכng yu pikin in tεlomεr dεm de. di tεst rizulεt de gi wan tεlomεr lεngth εn wan pasεntil. dis pasεnshכn de sho aw yu pikin in tεlomεr lεngth kכmpεr to di tεlomεr lεngth fכ כda pikin dεm we dεn ej.
- Jεnεtik tεst: Dis de chεk fכ jεnεtik mכtεshכn dεm we de asai wit diskeratosis congenita.
Bɔku tɛm, dɛn kin tek blɔd fɔ dɛn tɛst ya. insay spɛshal kes dεm, dεn kin tek כda tisu sεmpl dεm, lεk sכmכl pat pan di skin (skin bayopsi), dεn kin tek bak.
Ɔda tɛst dɛn we dɛn kin du
Sɔm ɔda tɛst dɛn we yu pikin go nid:
- Wan chɛk-ap fɔ dɛn tit
- εndoskopi (we dεn de egzamin di insay כgan dεm we dεn de yuz tכb wit kεmεra) .
- Fɔ chɛk di yay
- Skin tɛst fɔ yu
- Fɔ chɛk di bon mɛrɔ
- Imej tɛst fɔ chɛk difrɛn pat dɛn na di bɔdi (lɛk di bren, at, lɔng, liva, bon) .
- Tɛst dɛn we di pulmonari de wok
- di imyun sistεm fכnshכn tεst dεm
- Nyurosaykolojik tɛst
Aw dɛn kin trit diskɛratɔsis we dɛn bɔn wit?
Dɔktɔ dɛn kin plan di tritmɛnt bay wetin yu pikin nid. Nɔr wan saiz tritmɛnt plan nɔr de fɔ ɛvri pikin, bikɔs dis sik kin afɛkt ɛni pikin difrɛn we.
Sɔm pan di tritmɛnt dɛn we dɛn kin gɛt na:
- Blɔd transfyushɔn: Fɔ gi wɛlbɔdi rɛd blɔd sɛl ɛn pletlɛt dɛn.
- Androgen therapy: I kin ɛp fɔ mek di blɔd sɛl dɛn kɔntinyu fɔ gɛt wɛlbɔdi ɛn i kin mek di telɔmɛri dɛn lɔng fɔ sɔm tɛm.
- Stem sel transplant: Dɛn kin mɛn bon mɛrɔ we nɔ wok fayn, MDS, ɔ lukimiya. Bɔt dɛn kin jɔs du dis pan sɔm kes dɛn, we di bɛnifit dɛn pas di prɔblɛm dɛn.
Yu pikin in mɛdikal tim go tɔk to yu bɔt di tritmɛnt dɛn we yu go gɛt. di tritmεnt dεm we de naw nכ kin kכmplit kכl dyskeratosis congenita כ chenj di tεlomεr lεngth fכ כltεm. Bifo dat, di tritmɛnt dɛn kin aim fɔ kɔntrol sɔm patikyula sayn ɔ kɔmplikeshɔn dɛm fɔ di sik. Risach pipul dɛm de wok tranga wan fɔ fɛn nyu tritmɛnt dɛm wae go ɛp pikin ɛn big pipul dɛm wae gɛt dis sik.
Us kayn dɔktɔ dɛn go trit mi pikin?
Na wan tim we gɛt bɔku bɔku dɔktɔ dɛn kin plan fɔ trit am. Yu pikin kin gɛt "mɛdikal os" ɔ praymari kia dɔktɔ we de wok klos wit yu ɛn kɔdinɛt wit ɔda dɔktɔ dɛm.
Di tim we de kia fɔ yu pikin kin gɛt jenɛral dɔktɔ dɛn we de mɛn pikin dɛn, ɛn bak pipul dɛn we sabi bɔt pikin dɛn lɛk:
- Dɛntist dɛn
- Di wan dɛn we de mɛn di bɔdi
- Ɛndokrinɔlɔjis dɛn
- Di wan dɛn we de stɔdi bɔt di bɛlɛ
- Ɛmatɔlɔjis/ɔnkɔlɔjis dɛn
- Di wan dɛn we de stɔdi bɔt di imyunɔlɔji
- Di wan dɛn we de stɔdi bɔt nyurolɔji
- Ay spɛshal pipul dɛn `(Oftalmɔlɔjis)`
- Spɛshal pipul dɛn we de wok na di yes, nos ɛn trot (Otolaryngologists) .
- Di wan dɛn we de stɔdi bɔt di pulmon
- Di wan dɛn we de stɔdi bɔt di jɛnɛtiks
If mi pikin gɛt diskɛratosis congenita, wetin a fɔ ɛkspɛkt?
I at fɔ tɔk klia wan wetin yu pikin go gɛt tumara bambay, ɔ wetin go apin tumara bambay. Diskeratosis congenita kin mek pikin nɔ liv lɔng. Bɔt i at fɔ tɔk bay aw bɔku.
Bɔrku tin wae nɔr kin shɔ bɔt diskɛratosis congenita. Yu pikin in mɛdikal tim go gi yu bɔku infɔmeshɔn as dɛn ebul, ɛn dɛn go ɛksplen aw ɔltɛm yu pikin go nid fɔ gɛt tɛst ɛn fɔ go to dɔktɔ.
Wetin na di tin wae kin mek pɔrsin day pan diskɛratosis congenita?
Di tin wae kin mek pipul dɛm wae gɛt diskɛratosis congenita day na di bon mɛrɔ wae kin pwɛl , wae kin mek pɔrsin gɛt siriɔs infεkshɔn ɛn blɔd bikɔs dɛn nɔr gɛt wɛl bɔdi blɔd sɛl dɛm.
Ɔda tin dɛn we kin mek pɔsin day na lɔng sik ɛn kansa.
Yu tink se dɛn kin ebul fɔ mek dɛn nɔ gɛt diskɛratɔsis we dɛn bɔn wit?
Naw, no we nɔ de we dɛn no fɔ mek dɛn nɔ gɛt dis jenɛtik kɔndishɔn. If yu ɔ sɔmbɔdi na yu famili gɛt diskɛratosis congenita, i go fayn fɔ tɔk to pɔsin we de advays yu bɔt yu jɛnɛtiks . Dɛn kin ɛp yu fɔ ɔndastand di chans fɔ mek yu pikin dɛn gɛt dis sik.
Wetin a go du fɔ kia fɔ mi pikin?
Fɔ no se yu pikin gɛt diskɛratosis congenita kin tranga. Bɔt bɔku tin dɛn de we yu kin du fɔ sɔpɔt yu pikin in wɛlbɔdi ɛn fɔ ridyus di prɔblɛm dɛn we i kin gɛt.
Pipul wae gɛt diskeratosis congenita kin gɛt bɔrku risk fɔ gɛt sɔm kayn kansa ɛn lɔng sik. Di tin dɛm we de apin na di envayrɔmɛnt lɛk fɔ de na di san ɛn fɔ smok de mek dis prɔblɛm kin bɔku. Yu kin ɛp yu pikin bay we yu ɛnkɔrej am fɔ:
- Yuz tin dɛn we de protɛkt yusɛf frɔm di san ɛn tin dɛn fɔ protɛkt yusɛf (lɛk hat ɛn klos we gɛt lɔng sliv) we yu de go na do.
- Limit yu tɛm we di san de shayn dairekt wan.
- Nɔ tek ɔl di tin dɛn we dɛn kin mek wit tabak kpatakpata.
- Limit ɔ stɔp fɔ drink rɔm ɔltogɛda.
Yu pikin in mɛdikal tim go gi advays bay wetin yu pikin nid. Dɛn kin se bak fɔ advays ɔ sɔpɔt grup dɛn. Fɔ ɛgzampul, bɔku ɔganayzeshɔn dɛn de we de ɛp pipul dɛn we gɛt sik dɛn we nɔ kin apin so ɔltɛm. Tim Telomere na grup fɔ pipul dɛm wae gɛt diskeratosis congenita ɛn ɔda telomere biology disɔda.
Ustɛm a fɔ go to dɔktɔ fɔ ɛp mi pikin?
Yu pikin go gɛt bɔku dɔktɔ apɔntinmɛnt dɛn. Dɛn mɛdikal tim go tɛl yu ustɛm fɔ si ɛn aw ɔltɛm yu fɔ si.
Dɛn dɔktɔ visit ya rili impɔtant. Dɛn kin alaw dɔktɔ dɛn fɔ wach aw yu pikin de ɛn ajɔst di tritmɛnt we dɛn nid. Sɔm pan di kɔmplikɛshɔn dɛm wae kin kam wit diskɛratosis congenita kin nɔr kin si ɔltɛm na os. Tin dεm lεk di bon dεnsiti dεm we de dכn εn di fכs sayn dεm fכ kansa, dεn kin כnli no tru tεst.
Dɔktɔ dɛn kin tich yu bak aw fɔ ɛgzamin yusɛf na os fɔ tin dɛn lɛk kansa na yu skin ɛn kansa na yu mɔt. Dɛn tin ya nɔto fɔ tek ples fɔ go to dɔktɔ. Bɔt dɛn na impɔtant we fɔ no sɔm sayn dɛn kwik kwik wan ɛn mek dɛn trit yu pikin kwik kwik wan.
Us kwɛstyɔn dɛn a fɔ aks mi pikin in mɛdikal tim?
Afta dɛn dɔn no se yu gɛt diskɛratosis congenita, dɛn kwɛstyɔn ya kin ɛp yu fɔ no mɔ:
- Wetin na di sayn dɛm we mi pikin gɛt?
- Wetin na di prɔblɛm dɛn we kin apin?
- Us tritmɛnt dɛn yu kin advays?
- Wetin na di bɛnifit ɛn prɔblɛm dɛn we dɛn tritmɛnt ya kin gi?
- Yu kin rikomɛnd sɔpɔt grup ɔ ɔda tin dɛn we yu go yuz?
- Aw a go ɛksplen dis tin to mi pikin?
- Yu tink se dɛn kin se fɔ tɛst mi jɛnɛtiks fɔ mi ɔ ɔda pipul dɛn na mi famili?
I go fayn fɔ aks dɛn kwɛstyɔn ya to big pikin dɛn ɛn smɔl pikin dɛn:
- Aw a go ɛp mi pikin fɔ tek di rispɔnsibiliti fɔ in yon wɛlbɔdi biznɛs di we we fit in ej?
- Aw ɛn ustɛm wi fɔ rɛdi fɔ transfa mi pikin frɔm dɔktɔ dɛn we de mɛn pikin dɛn to big dɔktɔ dɛn?
Lɛ wi lan smɔl mɔ bɔt wetin na tɛlomɛr.
Okay, wi bin tok likl bit boht telomeres bifo. dis na di ripit sikεns dεm fכ DNA na di εnd fכ εvri wan pan yu pikin in kromozom dεm. εvri wan pan yu pikin in jin dεm de bitwin dεn tu tεlomεr dεm ya. Dɔktɔ dɛn kin kɔmpia dɛn to di plastic kap dɛn we de na di ɛnd dɛn pan sus. Jɔs lɛk aw dɛn kap dɛn de de protɛkt di sus lɛs fɔ mek i nɔ rɔtin, na so di tɛlomɛr dɛn de protɛkt yu pikin in jin dɛn.
di kromozom dεm de fכm na kכlכsכl כl di sεl dεm na pikin in bכdi. Dɛn sɛl dɛn de de kɔpi dɛnsɛf ɔltɛm. Na dat de mek pikin in ɔgan ɛn tisu dɛn wok fayn fayn wan.
Ɛnitɛm we wan sɛl sheb, i kin mek kɔpi dɛn fɔ in kromozom dɛn. εni tεm we dis apin, di tεlomεr dεm na wan kromozom kin sכt sכmtεm. Dis na nɔmal tin. wan enzym we dεn k כl tεlomεrayz de kam insay εn i de mek dεn tεlomεr dεm de fכ lεng fכ hεlth so dat di sεl go kכntinyu fכ sheb. If di telomεr dεm tu sכt, di sεl de stכp fכ sheb.
insay dyskeratosis congenita, di jεnεtik mכtεshכn de mek di tεlomεr dεm de sכt we nכ de nכmal. Dis kin apin difrɛn we dɛn. fכ egzampl, wan jεnεtik mכtεshכn kin ambɔg di prodyushכn fכ di tεlomεrayz. Ɔ di telomerase kin nɔ ebul fɔ rich di telomers. So, yu pikin in telomεr dεm kin sכt εn nכ de gro bak.
We di telomεr dεm na di sεl tu sכt, da sεl de kin stכp fכ mek kכpi fכ insεf. As mכr εn mכr sεl dεm de stכp fכ sheb, di difrεn כgan dεm εn tisu dεm na di pikin in bכdi de lכs wetin dεn nid fכ wok fayn fayn wan. na so di sכt tεlomεr dεm de mek di simptom dεm εn di kכmplikεshכn dεm fכ diskeratosis congenita.
Dis na di sem tin wit Zinsser-Cole-Engman syndrome?
Yes, Zinser-Cole-Engman syndrome ɛn dyskeratosis congenita na tu nem fɔ di sem kɔndishɔn. Di wan dɛn we de stɔdi bɔt dis sik insay 1906 bin gi am di nem Zinser-Cole-Engman syndrome. Bɔt tide, bɔku pipul dɛn kin kɔl am diskeratosis congenita.
Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .
No na pawa. Bɔt sɔntɛnde, ivin wit ɔl di tin dɛn we yu no na di wɔl, yu kin stil fil se yu nɔ ebul fɔ du natin. We yu kam fɔ no se yu pikin gɛt diskɛratosis congenita, yu kin gɛt bɔku kwɛstyɔn dɛn. I kin bi di sem ivin if yu gɛt di sik yusɛf - bikɔs di jenɛtik kɔndishɔn we dɛn kin pas tru famili nɔ kin afɛkt ɔlman di sem we.
Yu pikin in dɔktɔ dɛn kin ɛp yu fɔ ɔndastand yu pikin in kɔndishɔn ɛn wetin i nid. Dɛn kin gɛt di bɛst tin fɔ no bɔt aw de sik kin afɛkt yu pikin in bɔdi. Dɔn bak, mɛmba se wan ol kɔmyuniti de fɔ pipul dɛn we gɛt sik dɛn we nɔ kin bɔku ɛn we rɛdi fɔ sɔpɔt yu. Dɛn kin gi yu advays frɔm di tin dɛn we dɛn dɔn ɛkspiriɛns. Dɛn valyu wetin yu gɛt fɔ tɔk bak. We yu no se nɔto yu wangren de, dat go ɛp yu fɔ go bifo.
👩🏽 ⚕️ Ɔda kwɛstyɔn dɛn (FAQ dɛn)
💬 Na diskeratosis Congenita (DKC) na sik na di skin?
pan ɔl we i gɛt sik dɛn na di skin, dis nɔto sik na di skin, na wan sik we nɔ kin apin so ɔltɛm, we gɛt jɛnɛtik ‘dangerous chromosomal disease’. di men εn denja kכndishכn na di bon mכro na di bכdi nכ de wok kכmplit bikoz fכ di pat dεm we dεn kכl tεlomεr dεm na wi sεl dεm we de dכn (sכt) abnכmal kwik kwik wan.
💬 Wetin na di men sayn dɛm wae kin no se pikin gɛt dis sik frɔm we dɛn bɔn am?
Tri klia sayn dɛm de fɔ dis sik (Classic Triad). 1. Nεl dεm nכ de gro fayn, de brok, εn de fכm (Nail dystrophy). 2. Brawn εn wayt les lεk spat dεm de apin na di skin (Lacy skin pigmentation). 3. Wait, we nכ de skel, εn we nכ de dכn de fכm insay di mכt (tכng εn chεk) (Leukoplakia).
💬 Yu tink se dis rare jenɛtik sik kin mɛn 100%?
Nɔr mɛrɛsin nɔr de fɔ dis sik wae gɛt 100% jɛnɛtik. Bikɔs di bon mɛrɔ nɔ de wok fayn ɛn dɛn nɔ de mek blɔd, bɔku pan di wan dɛn we sik kin day bikɔs dɛn nɔ gɛt bɛtɛ blɔd ɔ dɛn gɛt infɛkshɔn. di onli solushכn we de sev layf εn di las tin we dεn go du na fכ transplant nyu bon mכro (Bכn Mכro/Stem Sεl Transplant) frכm pɔsin we go gri wit am.
` Dyskeratosis congenita, jεnεtik sik dεm, tεlomεr dεm, bon mכro, skin simptom dεm, nel chenj, kεnsar risk











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