I nɔmal fɔ fil bɔku fred ɛn wɔri we yu yɛri wɔd we yu nɔ no lɛk "Trisomy 18" we yu de tɔk to yu dɔktɔ bɔt yu pikin we yu nɔ bɔn yet. Us kayn kɔndishɔn dis, wetin mek dis de apin, ɛn sɔntin we nɔ rayt na mi pat kam na mi maynd? Nɔ wɔri. Tide, lɛ wi ɔndastand di sik we dɛn kɔl Trisomy 18 rili simpul wan, lɛk se wi de tɔk to wi padi.
Wetin rili na Trisomy 18?
Fɔ tɔk am simpul wan, trisomy 18 na wan sik we kin kam bikɔs ɔf prɔblɛm wit di kromozom dɛn we kin kɛr jɛnɛtik infɔmeshɔn na wi bɔdi. Wan ɔda nem fɔ dis na Edwards syndrome , fɔ ɔnɔ di dɔktɔ we bin fɔs tɔk bɔt dis sik.
Tink bɔt wi bɔdi lɛk big bildin. Di blueprint fɔ dis bildin de insay tin dɛn lɛk buk dɛn we dɛn kɔl kromozom. Di jin dɛm we de insay dɛn buk ya na di instrɔkshɔn fɔ aw ɛvri pat na wi bɔdi, frɔm di kɔlɔ we wi ia gɛt to di we aw wi at de wok, fɔ divɛlɔp.
Nɔmal wan, pikin we gɛt wɛlbɔdi kin gɛt 23 kromozom frɔm di mama ɛn 23 frɔm di papa. Di totɛl na 46. Dɛn arenj dɛn tu tu. Dat min se tu kɔpi dɛn de fɔ di kromozom 1, tu kɔpi dɛn de fɔ di kromozom 2, ɛn so de go, te to 23.
כltu, insay di kes fכ trisomy 18, insted fכ di nכmal tu kכpi dεm fכ kromozom 18, wan εkstra kכpi, dat na tri kכpi, de insay di pikin in sεl dεm. "Tri" min tri. Na dat mek dɛn kɔl am "trisomy 18." dis ekstra kromozom kin mek difrεn abnכmaliti dεm we de divεlכp plεnti כgan dεm na di pikin in bכdi.
Yu tink se kayn trisomy 18 de?
Yɛs, mɔ tri kayn dɛn de:
1. Ful Trisomy 18 : Dis na di kayn we we dɛn kin gɛt mɔ. na ya, εvri sεl na di pikin in bכdi gεt εkstra 18th kromozom.
2. Partial Trisomy 18: Dis kin rili rare. insted fכ wan komplit εkstra kromozom, na כnli pat pan di εkstra kromozom 18 de insay di sεl dεm. dis εkstra pat kin atak כda kromozom bak (translokeshכn).
3. Mosaic Trisomy 18: Dis na sik bak we nɔ kin apin so ɔltɛm. na ya, na sכm pan di sεl dεm na di pikin in bכdi nכmכ gεt di εkstra kromozom. Di ɔda sɛl dɛn nɔmal. I tan lɛk se dɛn miks difrɛn sɛl dɛn togɛda lɛk mosayk tayl.
Aw dis sik kin kɔmɔn?
Di sɛkɔn tin we kin apin na di kromozom na trisomy 18. Di fɔs wan na di wan we bɔku pipul dɛn sabi we dɛn kɔl Down syndrome , ɔ trisomy 21.
Statistikin sho se na lɛk wan pan ɛvri 5,000 pikin dɛn we dɛn bɔn kin gɛt trisomy 18. Pan dɛn pikin ya, di wan dɛn we dɛn kin ripɔt mɔ na gyal pikin dɛn. Bɔt fɔ tru, bɔku ɔda pikin dɛn we de na di bɛlɛ kin afɛkt dis sik. Bɔt bikɔs di prɔblɛm dɛn we kin kam wit dis sik kin rili bad, bɔku tɛm dɛn pikin dɛn de kin lɔs na di bɛlɛ we dɛn gɛt bɛlɛ.
Wetin na di sayn dɛm fɔ pikin we gɛt trisomy 18?
Bɔku tɛm di pikin dɛn we dɛn bɔn wit trisomy 18 kin rili smɔl ɛn wik . Dɛn kin gɛt bɔku siriɔs wɛl bɔdi prɔblɛm ɛn dɛn kin chenj dɛn bɔdi. Sɔm pan dɛn tin ya de na di tebul we de dɔŋ ya.
| Di pat na di bɔdi | Di sayn dɛn we pɔsin kin si |
|---|---|
| Hed ɛn fes | ed we smɔl pas di nɔmal ed (maykrosɛfali), smɔl jaw (maykrognathia), yes we nɔ de sɛt smɔl, ɛn di palata we skata. |
| An ɛn fut | Klɛnch an (finga dɛn fold oba dɛnsɛf), fut dɛn we gɛt rɔk-bɔt. |
| At | di ol dεm bitwin di chεmba dεm na di at (atrial septal dεfekt כ vεntrikulכr septal dεfekt). |
| Ɔda ɔgan dɛn | Lɔng, kidni, ɛn bɛlɛ/intestinal difrɛns. |
| Jɛnɛral kɔndishɔn | Di grow kin rili slo.(slowed growth), difεlεns fכ it, wik kray, εn siriכs intellektual εn divεlכpmεnt dilay. |
Wetin kin mek dis apin? Udat dɛn de pan denja?
Dis na di kwɛstyɔn we bɔku mama ɛn papa dɛn kin aks. "Na mi fɔlt dis?"
Duya una ɔndastand se trisomy 18 nɔto bikɔs ɔf ɛni fɔlt we di mama ɔ papa gɛt, ɔ bikɔs ɔf it, drink, ɔ bihayvya. na random kromozom divεlכpmεnt mistek we de apin we eg כ sεl de fכm. Natin nɔ de we wi go du fɔ mek i nɔ apin.
כltu, di risk fכ dεn kromozom dεfεkt ya de inkrεs sכmtεm as di mama de ol (especially afta i ol 35 ia). Bɔt mama we ol ɛni ej kin gɛt pikin we gɛt trisomy 18.
If yu dɔn gɛt pikin we gɛt trisomy 18, di risk fɔ gɛt dis sik insay yu nɛks bɛlɛ de bitwin 0.5% ɛn 1%. Bɔt if yu ɔ yu patna gɛt di jɛnɛtik chenj (translocation) we de mek pɔsin gɛt pat pan trisomy 18, we wi bin tɔk bɔt, di risk kin ivin bɔku. I rili impɔtant fɔ tɔk to yu dɔktɔ bɔt dis ɛn if nid de, go to pɔsin we de advays yu bɔt yu jɛnɛtiks.
Yu tink se dɛn kin no dis we uman gɛt bɛlɛ?
Yɛs, i rili pɔsibul. Di dɔktɔ go tek blɔd sɛmpul fɔs frɔm di mama ( screening test ). pan tap dis nכ kin bi 100% sכri, i kin no if di pikin de pan inkrεs risk fכ gεt kromozom dεfekt lεk trisomy 18.
If dis tɛst sho se risk de, ɔda tɛst dɛn de fɔ kɔnfɔm di tin we de apin.
- Chorionic Villus Sampling (CVS): dεn de tek sכm sכm sεmpl fכ di plasεnta εn tεst am insay di fכs wik dεm we di bεlε de (wik 10-13).
- Amniocentesis: afta 15 wik, dεn de tek wan sεmpl fכ di amniotic fluid we de rawnd di pikin εn tεst am.
dεn tu tεst dεm ya kin kכnt di pikin in kromozom dεm kכrekt wan εn kכnfכm wit sכri if dεn gεt trisomy 18 כ nכ gεt.
pan tap dat, we dεn du כltra saund skan afta 12 wik, i kin mek bak pipul dεn dawt dis sik bay we dεn de luk tin dεm lεk aw di pikin de gro, aw in at shep, εn di say we di limb dεm de.
Ɛni tritmɛnt de? Wetin na di pikin in tumara bambay?
Dis na tɔpik we rili sɛnsitiv fɔ tɔk bɔt. No mɛrɛsin nɔ de fɔ trisomy 18 yet . dis na biכs na jεnεtik chenj we de insay εvri sεl na di pikin in bכdi.
Bɔt we dɛn nɔ gɛt tritmɛnt, dat nɔ min se dɛn nɔ go ebul fɔ du natin fɔ di pikin. Dɛn kin gi sɔpɔt kia fɔ mek shɔ se di pikin fil fayn ɛn gɛt mɔni as i pɔsibul.
- Ɔpreshɔn fɔ sɔm tin dɛn, lɛk at prɔblɛm.
- Fɔ gi di mɛrɛsin dɛn we dɛn nid.
- Fid tyub if i nɔ izi fɔ drink milk.
- Sɔpɔt fɔ di prɔblɛm dɛn we pɔsin kin gɛt we i de blo.
Sɔm mama ɛn papa dɛn, bifo dɛn trit dɛn pikin wit pen, dɛn kin disayd fɔ mek i fil fayn fɔ shɔt tɛm, wit lɔv ɛn lɔv. Dɛn kɔl dis kɔmfɔt kia . Dɛn tin ya we pɔsin kin disayd fɔ du kin rili apin to insɛf. I impɔtant fɔ tɔk opin wan bɔt ɔl dɛn tin ya we yu kin du wit yu dɔktɔ.
Bɔt i sɔri fɔ no se bikɔs ɔf di siriɔs wɛlbɔdi prɔblɛm dɛn we kin kam wit dis sik, bɔku pikin dɛn kin liv shɔt layf. Na lɛk af pan ɔl di pikin dɛn we dɛn kin bɔn kin day insay di fɔs wik. Les dan 10% de liv fɔ sɛlibret dɛn fɔs batde. Ivin dɛn bebi dɛn we de alayv nid fɔ gɛt dɔktɔ fɔ kia fɔ dɛn ɔltɛm.
Fɔ kia fɔ pikin lɛk dis kin mek mama ɛn papa dɛn taya na dɛn maynd ɛn bɔdi, so i impɔtant fɔ gɛt sɔpɔt fɔ yusɛf ɛn yu famili pan dis waka.
Mɛsej we dɛn kin kɛr go na os
- trisomy 18 na jεnεtik kכndyushכn we de kכz we i gεt εkstra kכpi fכ di kromozom nכmba 18.
- Dis nɔto bikɔs ɔf ɛni fɔlt we di mama ɛn papa gɛt. Na wan random jenɛtik dɛfɛkt.
- yu kin no dis kכndyushכn tru skan εn spεshal bכdi tεst we uman bεlε.
- Pan ɔl we no patikyula mɛrɛsin nɔ de fɔ dis sik, sɔm we dɛn de fɔ kia fɔ di pikin we go ɛp di pikin.
- I rili impɔtant fɔ mek mama ɛn papa dɛn we de gɛt dis prɔblɛm fɔ go to dɔktɔ dɛn, advaysa dɛn, ɛn ɔda pipul dɛn na dɛn famili fɔ sɔpɔt dɛn maynd. Tɔk opin wan wit yu dɔktɔ bɔt ɛnitin.
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