Yu ɛn yu patna de tink bɔt fɔ bɔn pikin? Ɔ yu dɔn gɛt bɛlɛ? Dɔn wetin wi go tɔk bɔt tide go rili impɔtant to yu. Sɔntɛnde, ilɛksɛf wi gɛt wɛlbɔdi, wi kin gɛt chenj dɛn we ayd na wi bɔdi, dat na, na wi jin, we gɛt fɔ du wit sɔm sik dɛn. Dis na we dɛn kin se wi na ‘carrier’ fɔ wan patikyula sik. Tide wi go tɔk bɔt ‘carrier screening’, we dɛn kin du fɔ no if wi na carrier.
Fɔ tɔk am simpul wan, wetin i min fɔ bi ‘kɛriɔ’?
Tink bɔt am, fɔ ɛvri kwaliti na wi bɔdi (e.g. ia kɔlɔ, yay kɔlɔ), wi gɛt tu kɔpi fɔ di jin. Wan wi kin gɛt frɔm wi mama, di ɔda wan frɔm wi papa. ‘Kɛriɔ’ na pɔsin we gɛt smɔl difrɛns ɔ chenj (pathogenic variant) na wan pan di tu kɔpi dɛm fɔ di jin we gɛt fɔ du wit wan patikyula sik.
bכt, biכs di כda kכpi fכ di jin hεlty, i de ‘subdue’ di fכnshכn fכ di wan we gεt di dεfεkt. So yu nɔ de sho ɛni sayn. Yu gɛt wɛlbɔdi. Bɔt yu gɛt di pawa fɔ pas dis jin we nɔ fayn to yu pikin dɛn. Na dat dem de kol yu ‘carrier’.
כl di tεm dεm, dεn kεriכn tεst ya de luk fכ sik dεm we dεn kin gεt inhεrit insay wan ‘autosomal recessive’ we. Dis min se fɔ mek pikin gɛt di sik, in mama ɛn papa ɔl tu fɔ gɛt di sik. Bɔku tɛm, nɔbɔdi nɔ kin no se dɛn na pɔsin we de kɛr di tin dɛn. Dis na bikɔs nɔrbɔdi na di famili nɔr kin gɛt dis sik.
pan tap dat, wan kategori de fכ jεnεtik sik dεm we dεn kכl ‘X-linked’ kכndishכn. Dɛn kin gɛt dɛn tin ya tru di kromozom dɛn we de na di sɛks. Dɛn kin tɛst dɛn tin ya bak bay sɔm tɛst dɛn we dɛn kin du fɔ kɛr pipul dɛn.
Ustɛm dɛn kin du dis kariɔ skrinin? Wetin mek i impɔtant?
di bεst εn di rayt tεm fכ du dis tεst na bifo yu ivin plan fכ bεlε. Da we de, yu gɛt bɔku tɛm fɔ disayd bɔt yu tumara bambay bay di tin dɛn we go apin, yu nɔ go wɔri ɛn gɛt pis na yu maynd.
Imajin, if yu kam fɔ no se una ɔl tu gɛt di sem sik, una go tink bɔt difrɛn tin dɛn we una go ebul fɔ du.
- fכ mek pikin yuz כda pכsin in eg כ sεl (IVF yuz eg כ sεl dεm we dεn gi am).
- di jεnεtik tεst we dεn du bifo dεn put di εmbrayo na fכ tεst di εmbrayo in jin dεm εn fכ implant כnli εmbriyo we gεt hεlty insay di uterus.
- Fɔ adopt pikin.
If yu nɔ bin ebul fɔ du dis tɛst bifo yu gɛt bɛlɛ, yu kin stil du am insay di fɔs tri mɔnt we yu gɛt bɛlɛ. Ivin da tɛm de, yu go gɛt di chans fɔ plan yu bɛlɛ tumara bambay bay di rizɔlt ɛn if nid de, yu go du ɔda tɛst dɛn lɛk amniocentesis fɔ no if di pikin gɛt prɔblɛm.
Us kayn sik dis tɛst de luk fɔ?
Kεriכ tεst de luk fכ sεvεra kכmכn jεnεtik sik dεm. Sɔm pan dɛn na:
- Sistik fibrosis we de mek pɔsin gɛt sik
- Siklɔs sik sik
- Thalassemia - Dis na wan sik wae kin pasmak na Sri Lanka.
- Di sik we dɛn kɔl Tay-Sachs
- Fragile X sindrom we gɛt di sik
Apat frɔm dɛn wan ya, naw dɛn gɛt tɛst dɛn we dɛn kɔl ‘Expanded carrier testing’ we kin tɛst fɔ dɔzɛn ɔda sik dɛn wan tɛm. If pɔsin na yu famili gɛt wan patikyula jɛnɛtik sik, yu kin gɛt tɛst bak we dɛn kin du fɔ da sik de (Targeted carrier screening). Yu kin tɔk bɔt ɔl dɛn tin ya wit yu dɔktɔ ɛn disayd.
Aw dɛn kin du di tɛst? Yu tink se na big tin?
Atɔl. Dis na tin we rili simpul ɛn i nɔ de mek pɔsin fil pen. Yu nɔ gɛt natin fɔ fred ɛni we.
Bɔku tɛm, dɛn kin du dis tɛst bay we dɛn de yuz wan pan dɛn we ya:
- Blɔd tɛst: Dɛn kin pul smɔl blɔd na yu an.
- Saliva test: Dɛn kin gɛda smɔl pan yu saliva insay wan tiub.
- Wan tisu tɛst: Dɛn kin yuz smɔl swab fɔ swab insay yu chɛst .
If dɛn de tek sɛmpul frɔm saliva ɔ na chɛst swab, dɛn kin advays yu fɔ lɛf fɔ it ɔ drink fɔ shɔt tɛm bifo dɛn du di tɛst. Apat frɔm dat, dɛn nɔ nid fɔ pripia spɛshal wan.
Wetin di rizɔlt dɛn se? Aw wi ɔndastand am?
Dɛn kin sɛn yu sampul to spɛshal jenɛtiks lab fɔ mek dɛn tɛst am. I kin tek sɔm dez ɔr wik fɔ mek di rizɔlt kam bak.
If di rizulyt na ‘Negative’...
Dis min se dɛn nɔ bin fɛn di jenɛtik difrɛns we gɛt fɔ du wit di sik dɛn we dɛn bin tɛst yu fɔ. Dis min se di risk fɔ mek yu pikin dɛn gɛt dɛn sik dɛn de rili smɔl. bכt dεn nכ kin se na 100% ziro, biכs dεn tεst ya nכ kin ebul fכ kech כl di jεnεtik dεfεkt dεm. Bɔt we yu no se di prɔblɛm rili smɔl, dat kin mek yu fil fayn.
If di rizulyt na ‘Positiv’...
Dis min se yu de kɛr wan ɔr mɔr jɛnɛtik sik. Nɔ fred we yu yɛri dis. Dis nɔ min se yu gɛt wan sik. Yu stil gɛt wɛlbɔdi.
Bɔt di impɔtant tin fɔ du dis tɛm na fɔ mek dɛn tɛst yu patna fɔ di sik bak.
Wetin yu go du if una ɔl tu gɛt di sem sik?
Dis na di say we wi nid fɔ pe atɛnshɔn. If yu ɛn yu patna ɔl tu gɛt di sem ɔtosomal rɛsɛsiv sik, na dis chans de fɔ mek ɛni pikin we yu gɛt go afɛkt:
| Di pikin in kɔndishɔn | Prɔbabiliti |
|---|---|
| Fɔ gɛt ɔl tu di jin dɛm we nɔ fayn ɛn fɔ bɔn wit di sik | 25% (1 pan 4 chans) |
| Fɔ gɛt jɔs wan jin we nɔ fayn ɛn fɔ bi pɔsin we nɔ gɛt ɛni sayn fɔ kɛr am | 50% (1 pan 2 chans) |
| Fɔ bɔn am kɔmplit wɛlbɔdi , we nɔ gɛt ɛni jin we nɔ fayn | 25% (1 pan 4 chans) |
We yu dɔn gɛt dɛn rizɔlt ya, yu dɔktɔ go rifer yu to Jɛnɛtik Kɔnsul , pɔsin we gɛt spɛshal trenin ɛn no bɔt jɛnɛtik sik dɛn. I go ɛksplen to yu mɔ bɔt di tin we apin, ansa yu kwɛstyɔn dɛn, ɛn tɔk bɔt di nɛks tin dɛn we yu go du.
Ɛni risk de fɔ dis tɛst?
Na bɔdi, no big prɔblɛm nɔ de pas fɔ fil smɔl pen we yu de pul blɔd.
Bɔt yu nid fɔ tink bak bɔt di saykolojik sayd. Sɔm pipul dɛn kin fil strɛs smɔl ɛn wɔri fɔ du tɛst ɛn gɛt di rizɔlt. Ɛn nɔr kin bɔrku, yu kin no se yu nɔr kin jɔs gɛt dis sik, bɔt yu gɛt wan kayn sik wae nɔr kin pasmak. So tɔk opin wan bɔt ɔl dis wit yu dɔktɔ bifo yu du di tɛst. If yu nɔr de fil fayn, nɔr shem fɔ tɛl yu dɔktɔ bɔt dat.
Mɛsej we dɛn kin kɛr go na os
- Carrier screening na impɔtant tɛst we de ɛp yu fɔ ɔndastand di risk fɔ mek yu pikin gɛt wan sik we dɛn gɛt frɔm in jɛnɛtiks.
- Jɔs bikɔs yu na pɔsin we gɛt di sik nɔ min se yu gɛt di sik. Yu gɛt wɛlbɔdi.
- di bεst tεm fכ tek dis tεst na bifo yu plan fכ bεlε.
- If yu tɛst rizɔlt ‘pɔzitiv’, i impɔtant fɔ mek dɛn tɛst yu patna bak.
- We yu no wetin de apin to yu, dat go mek yu gɛt bɔku trɛnk fɔ disayd fɔ du sɔntin we yu de plan fɔ du yu famili.
- If yu gɛt ɛni kwɛstyɔn ɔ dawt, tɔk bɔt am opin wan wit yu dɔktɔ.
💬 Comments (0)
No kɔmɛnt nɔ de yet. Ad yu kɔmɛnt ya fɔ di fɔs tɛm.
Ad yu kɔmɛnt