Wi ɔl kin gɛt tin dɛn frɔm wi mama ɛn papa, nɔto so? Tin dɛn lɛk skin kɔlɔ, ia tɛkstɔr, ay kɔlɔ. Dis na tin dɛn we wi kin gɛt frɔm wi mama ɛn papa dɛn jin. Bɔt apat frɔm dɛn gud tin ya, sɔm sik dɛn bak kin kɔmɔt frɔm wi pikin dɛn. Wi kin jɔs kɔl dɛn kayn sik ya we kin kam tru di jin dɛn ‘Jɛnɛtik Disɔda’. I rili impɔtant fɔ no bɔt dis, bikɔs i go ɛp wi fɔ disayd bɔt wisɛf ɛn wi pikin dɛn tumara bambay.
Wetin rili na di sik we pɔsin kin gɛt we i kam pan jɛnɛtiks?
Fɔ ɔndastand dis, lɛ wi fɔs tɔk smɔl bɔt di jin ɛn DNA. Imajin se wi bɔdi na big bildin. Wan kɔmplit blueprint de fɔ bil da bildin de, wan big buk we gɛt ɔl di smɔl smɔl tin dɛn. Semweso, insay ɛvri sɛl na wi bɔdi, sɔm instrɔkshɔn dɛn de we gɛt infɔmeshɔn bɔt aw da sɛl de fɔ wok, aw wi tan, ɛn ɔl di kwaliti dɛn we wi gɛt. Dis sɛt ɔf instrɔkshɔn na wetin wi kɔl DNA (Deoxyribonucleic acid) .
wi kכl 'jin' di pat dεm na dis lכng chen fכ DNA we de gi spεsifi k instrכkshכn dεm. Fɔ ɛgzampul, wan jin de we de sho di kɔlɔ we yu yay gɛt, wan jin de we de sho aw yu ia tan, ɛn ɔda tin dɛn.
Naw, wetin kin apin if chenj, damej, ɔ mistek de pan di instrɔkshɔn dɛn we de insay dɛn jin ya? Dɔn i kin afɛkt di we aw di bɔdi de wok fayn. Dɛn kɔl dis kayn bad bad chenj na wan jin , muteshon . wi kin kכl sik dεm we dεn kכz fכ dis kayn mכtεshכn כ bay we dεn chenj di sayz fכ di strכkchכ dεm (kromozom dεm) we gεt wi jin dεm ‘jεnεtik sik dεm’.
Wi kin gɛt af pan wi jin frɔm wi mama ɛn di ɔda af frɔm wi papa. So wi kin gɛt wan prɔblɛm we wi gɛt frɔm wi mama ɔ wi papa, ɔ frɔm dɛn ɔl tu.
Wetin na di men kayn sik dɛn we pɔsin kin gɛt we i kam pan jɛnɛtiks?
Dɛn kin sheb di sik dɛn we pɔsin kin gɛt we i kam pan jɛnɛtiks to tri men kayn. Dɛn klasification ya de bay aw dɛn kin apin.
| Di kayn sik we pɔsin kin gɛt | Wan simpul ɛksplen |
|---|---|
| Dizayd dɛn we de na di Kromozom | wi jin dεm (DNA) dεn pak insay strכkchכ dεm we dεn kכl kromozom. Dɛn sik ya kin kam we di kromozom dɛn we de na di sɛl dɛn de bɔku ɔ we de go dɔŋ, ɔ we di pat pan wan kromozom de bɔku ɔ we de go dɔŋ. |
| Kɔmpleks / Mɔltifaktɔrial Disɔda | Dɛn tin ya kin apin bikɔs wan ɔ mɔ jɛnɛtik muteshon ɛn wi layf ɛn di tin dɛn we de apin na di say we wi de (di it, ɛksesaiz, smok, kemikal). |
| Sik dɛm wae kin kam wae pɔrsin nɔr fayn na wan jin (Single-gene / Monogenic Disorders) . | Dɛn sik ya kin kam bikɔs wan jin chenj. Yu kin si se dɛn de pas frɔm jɛnɛreshɔn to jɛnɛreshɔn pan klia patɛn. |
Wetin na di sik dɛn we kin kam pan pɔsin in jɛnɛtiks?
Bɔku bɔku sik dɛn de we pɔsin kin gɛt we i kam pan jɛnɛtiks. Sɔm kin rili kɔmɔn, sɔm kin rili rare. Lɛ wi luk sɔm pan de sik dɛm wae kin pasmak wae kin fɔdɔm pan de tri kayn wae wi bin dɔn tɔk bɔt.
| Di kayn sik we pɔsin kin gɛt | Ɛgzampul dɛn |
|---|---|
| Dizayd dɛn we de na di Kromozom | |
| Daun sindrom (Dɔwn sindrom - Trisɔmi 21) . | Fragile X sindrom we gɛt di sik |
| Di sik we dɛn kɔl Klinefelter syndrome | Turner sindrom we gɛt di sik |
| Trisɔmi 18 ɛn Trisɔmi 13 | Tripul-X sindrom we gɛt di sik |
| Dizayd dɛn we gɛt bɔku tin dɛn fɔ du | |
| Shuga | Koronari at sik |
| Kansa (bɔku kayn kansa) . | Atraytis we pɔsin kin gɛt |
| Ɔtizm spɛktrum disɔda (we kɔmɔn pas ɔl) . | Maygren ed we de at |
| Monogenic Dizayd dɛn | |
| Sistik fibrosis we de mek pɔsin gɛt sik | Siklɔs sik sik |
| Duchenne mכskul dεstrofi | Di sik we dɛn kɔl Tay-Sachs |
| Ɛmokromatosis (we de mek ayɔn bɔku na di bɔdi) . | Famili haypa kɔlɔstrelemia |
Wetin na di tin dɛn we kin mek pɔsin gɛt sik dɛn we pɔsin kin gɛt?
As wi bin dɔn tɔk, di men tin we kin mek i apin na we di jin dɛn chenj. Lɛ wi ɔndastand dis smɔl mɔ simpul wan.
Wi jin dɛn tan lɛk wan sɛt ɔf instrɔkshɔn fɔ mek di prɔtin dɛn we wi bɔdi nid. dis protin dεm de kכntro kכlכsכl כl di prכsεs dεm na wi bכdi. We wan jin gɛt muteshon, dɛn instrɔkshɔn ya nɔ kin wok fayn. Dɔn tu tin dɛn kin apin:
1. Either di protin dεm we nid dεn nכ de prodyuz atכl.
2. Ɔ sɔntin de we nɔ fayn na di prɔtin dɛn we dɛn de mek, so dɛn nɔ de wok fayn.
Dɛn tu tin ya kin ambɔg di bɔdi in nɔmal prɔses ɛn kin mek pɔsin gɛt sik. Sɔm muteshon dɛn kin kɔmɔt frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn. Bɔt sɔntɛnde, if pɔsin nɔ gɛt ɛni famili istri, i kin gɛt nyu jin we de chenj insay in layf. difrεn tin dεm de we de apin na di envayroment (mutajεns) we de afekt dis.
- Fɔ gɛt kemikal: Tin dɛn lɛk sɔm peshɛnt sayd ɛn kemikal dɛn we dɛn kin pul na faktri.
- We yu gɛt raytin: We yu gɛt raytin pasmak lɛk ɛkstrem rayt.
- Smok: Di kemikal dɛn we de insay tabak kin pwɛl DNA.
- Altravayolɛt rayt we de ambɔg di san (UV exposure): Dɛn tin ya kin mek pɔsin gɛt sik lɛk kansa na di skin.
Wetin na di sayn dɛm fɔ dɛn sik ya?
De sayn dɛm fɔ wan sik wae de kam pan pɔrsin in jɛnɛtiks kin difrɛn bad bad wan. Dɛn kin dipen pan us jin de afɛkt, us pat pan di bɔdi de afɛkt, ɛn aw di sik bad. Sɔm sayn dɛn de we pɔsin kin si we dɛn bɔn am. Ɔda wan dɛn kin apin we dɛn smɔl, we dɛn yɔŋ, ɔ ivin we dɛn big.
Dis na sɔm pan di kɔmɔn sayn dɛm:
- Di chenj we pɔsin de biev ɔ prɔblɛm dɛn.
- I nɔ kin izi fɔ yu fɔ blo.
- di kכgnitiv dεfisit dεm, lεk we di bren nכ ebul fכ proכses infכmeshכn kכrekt wan.
- Divεlכpmεnt prכblεm dεm, lεk fכ delay fכ tכk כ soshal skil dεm.
- I nɔ izi fɔ swɛla it ɔ nɔ ebul fɔ tek di tin dɛn we de insay di it fayn fayn wan.
- Ɛnitin we nɔ fayn na di limb ɔ fes, lɛk we di finga dɛn nɔ de ɔ di lip ɛn palata we skata.
- I nɔ izi fɔ muv bikɔs di mɔsul dɛn stif ɔ wik.
- Nyurolɔjik prɔblɛm lɛk fɔ gɛt sik ɔr strok.
- Di bɔdi we de gro smɔl ɔ we i shɔt.
- I nɔ ebul fɔ si ɔ yɛri fayn.
Aw yu go no if yu gɛt wan sik we yu gɛt frɔm yu jɛnɛtiks?
If pɔsin na yu famili gɛt wan sik we yu gɛt frɔm yu jɛnɛtiks ɛn yu tink se yu gɛt am, i go fayn fɔ mek yu go to dɔktɔ ɛn go to yu jenɛtiks advays . Bɔku tɛm, we yu de tɛst yu jɛnɛtiks, yu kin no if yu gɛt jɛnɛtik muteshon we gɛt fɔ du wit wan patikyula sik.
Di impɔtant tin na dat, jɔs bikɔs pɔsin gɛt jɛnɛtik muteshɔn fɔ wan sik, i nɔ kin rili gɛt am. Wan pɔsin we de advays yu bɔt yu jɛnɛtiks kin ɛksplen yu risk ɛn wetin yu kin du fɔ protɛkt yusɛf.
Bɔku tɛst dɛn de we pɔsin we de stat famili, ɔ mama we gɛt bɛlɛ kin du.
Tɛst fɔ di pɔsin we de kɛr pipul dɛn
Dis na blɔd tɛst. I kin no if yu ɔ yu patna de kɛr wan jin we nɔ fayn fɔ wan jenɛtik sik we nɔ sho ɛni sayn (na dɛn de kɛr am). Dis tɛst na fayn opshɔn fɔ ɛnibɔdi we de plan fɔ bɔn pikin, ivin if nɔr famili histri bɔt dis sik.
Skrin we dɛn kin du bifo dɛn bɔn pikin
dis tεst kin no di risk fכ pikin we de na di bכdi gεt wan kכmכn kromozom dizכrd lεk Daun sεndrכm bay we dεn egzamin blכd sεmpl we dεn tek frכm di mama we bεlε.
Tɛst fɔ diagnostik bifo dɛn bɔn pikin
Dis kin ɛp fɔ no mɔ if di pikin gɛt wan sik we i gɛt frɔm in jɛnɛtiks. fכ dis, dεn de tek sכm sכm di amniotic fluid εn tεst am. Dɛn kɔl dis tɛst amniocentesis .
Fɔ chɛk di nyu bɔbɔ dɛn
Dɛn kin du dis tɛst pan smɔl blɔd sɛmpul we dɛn tek frɔm di il fɔ ɛni pikin we dɛn jɔs bɔn. Dɛn kin du am bak ɔltɛm na ɔspitul dɛn na Sri Lanka. Dis kin mek dɛn ebul fɔ no sɔm sik dɛn we dɛn kin gɛt we dɛn kin trit kwik kwik wan ɛn i kin mek di pikin gɛt di tritmɛnt we i nid kwik kwik wan.
Wetin na di tritmɛnt fɔ sik dɛn we pɔsin kin gɛt we i kam pan jɛnɛtiks?
Dis na wetin wi ɔl want fɔ no. Bɔt di tru tin na dat, bɔku pan di sik dɛn we pɔsin kin gɛt we i kam pan in jɛnɛtiks nɔ kin ebul fɔ wɛl ɔl. Bɔt, nɔ wɔri. Pan ɔl we dɛn nɔ kin ebul fɔ mɛn di sik ɔltogɛda, bɔku tritmɛnt dɛn de we kin ɛp fɔ kɔntrol di sik, fɔ mek di sik nɔ wɔs, ɛn mek layf izi.
De kayn tritmɛnt wae yu nid go dipen pan di kayn sik ɛn aw i siriɔs.
- Kimotɛrapi tritmɛnt, lɛk mɛrɛsin fɔ kɔntrol di sik ɔ fɔ kɔntrol di nɔmal sɛl growth pan kɔndishɔn lɛk kansa.
- Nutritional counseling ɔr di it supliment fɔ ɛp yu bɔdi fɔ gɛt di nyutrishɔn we i nid.
- Dɛn kin nid fɔ tek fizik tritmɛnt, ɔkupeshɔn tɛrapi, ɔ fɔ tɔk tɛrapi fɔ mek dɛn kɔntinyu fɔ gɛt di bɛst abiliti.
- Blɔd transfyushɔn fɔ mek di blɔd sɛl dɛn gɛt wɛlbɔdi bak.
- Ɔpreshɔn fɔ kɔrɛkt abnɔmal strɔkchɔ ɔ trit kɔmplikeshɔn dɛn.
- Spɛshal tritmɛnt dɛn lɛk redyushɔn tɛrapi fɔ kansa.
- Ɔgan transplant : Fɔ riples ɔgan we nɔ de wok fayn wit wan we gɛt wɛlbɔdi.
Aw di tumara bambay go tan lɛk fɔ pɔrsin wae gɛt dis kayn sik?
E tranga fɔ gi wan ansa to dis kwɛshɔn, bikɔs i kin difrɛn frɔm wan sik to ɔda sik. Pikin we gɛt sɔm sik dɛn we dɛn kin bɔn wit we nɔ kin apin so ɔltɛm ɛn we kin rili bad, lɛk anɛnsɛfali, kin jɔs liv fɔ sɔm dez.
Bɔt wan kɔndishɔn lɛk wan isolated cleft lip nɔ de afɛkt di layf we pɔsin de liv. Bɔt dɛn kin stil nid spɛshal tritmɛnt ɛn kia ɔltɛm fɔ liv nɔmal layf. Di impɔtant tin na dat, if dɛn gi dɛn fayn dɔktɔ advays ɛn mɛn dɛn, bɔku pipul dɛn we gɛt sik dɛn we dɛn kin gɛt na dɛn jɛnɛtiks kin liv dɛn layf we gɛt minin ɛn gud layf.
Yu tink se dɛn go ebul fɔ avɔyd wan sik we pɔsin kin gɛt we i kam pan jɛnɛtiks?
Na smɔl tin nɔmɔ wi kin du fɔ mek wi nɔ gɛt sik dɛn we wi kin gɛt frɔm wi jɛnɛtiks, bikɔs dɛn de na wi DNA. Bɔt tru di kɔyl ɛn tɛst fɔ yu jɛnɛtiks, yu kin lan bɔt di prɔblɛm we yu gɛt. Yu kin no bak aw i go bi se yu pikin dɛn go gɛt sɔm sik dɛn. Dis no we yu no kin ɛp yu fɔ disayd fɔ du impɔtant tin dɛn lɛk fɔ plan fɔ famili.
Mɛsej we dɛn kin kɛr go na os
- Jεnεtik sik dεm na kכndyushכn dεm we de kכz fכ difεkt dεm na wi jin כ kromozom dεm.
- Sɔm pan dɛn tin ya kin apin we dɛn bɔn am, ɛn ɔda wan dɛn kin apin as tɛm de go.
- If pɔsin na yu famili gɛt jɛnɛtik sik, i rili impɔtant fɔ tɔk to yu dɔktɔ ɛn lan bɔt aw fɔ advays yu jɛnɛtiks bifo yu bigin famili.
- Pan ɔl we dɛn nɔ kin ebul fɔ mɛn bɔku sik dɛn ɔltogɛda, bɔku tritmɛnt dɛn de we kin ɛp fɔ kɔntrol di sik dɛn ɛn liv bɛtɛ layf.
- Wae yu de liv wit dis kayn sik, e fayn fɔ kɔntinyu fɔ go to tritmɛnt frɔm spɛshal pɔrsin ɛn aks fɔ ɛp frɔm sɔpɔt grup dɛm.
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