As mama ɔ papa, yu dɔn ɛva fil lɛk se yu pikin difrɛn smɔl frɔm ɔda pikin dɛn? Sɔntɛm i kin let smɔl fɔ tɔk, ɔ sɔntɛm i kin tek smɔl tɛm fɔ lan nyu tin. Bɔku rizin dɛn kin de fɔ dis. Bɔt tide wi go tɔk bɔt wan spɛshal jenɛtik kɔndishɔn we kin mek dis kayn tin apin, bɔt dɛn nɔ kin tɔk bɔt am bɔku na wi sosayti. Dat na di sik we dɛn kɔl Fragile X Syndrome .
Fɔ tɔk am simpul wan, wetin na Fragile X Syndrome?
Dis na wan sik we pɔsin kin gɛt we i kam pan jɛnɛtiks. Dis min se dɛn kin pas am frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn. Dis sik kin afɛkt di pikin in lanin, bihayvya, aw i luk, ɛn ɔl in wɛl bɔdi. Sɔm pikin dɛn kin gɛt sɔm kayn sik dɛn we nɔ kin rili at fɔ si, ɛn ɔda wan dɛn kin gɛt dis sik bad bad wan. Jɛnɛral wan, bɔy pikin dɛn kin gɛt dis sik pas gyal pikin dɛn .
Pikin dεm we dεn bכn wit dis kכndyushכn kin gεt divεlכpmεnt prכblεm, lεk dεn kin gεt disabiliti fכ lan εn dεn kin gεt intellectual disabiliti. Bɔt nɔ wɔri. If dɛn gɛt di rayt tritmɛnt, spɛshal ɛdyukeshɔn, ɛn tritmɛnt, dɛn pikin ya kin lan ɛn divɛlɔp to dɛn ɔl.
Wetin na di sayn dɛm fɔ dis sik?
Pikin wae gɛt Fragile X kin sho difrɛn kayn sayn dɛm. Sɔm pan di sayn dɛm na di we aw pɔsin de biev, ɛn ɔda wan dɛn na di bɔdi. Lɛ wi luk dɛn tin ya wan bay wan.
| Tayp we gɛt kwaliti dɛn | Kɔmɔn tin dɛn we dɛn kin si |
|---|---|
| Prɔblɛm dɛn we pɔsin kin gɛt we i de lan ɛn di we aw i de biev |
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| Di kwaliti dɛn we pɔsin kin si na in bɔdi |
Di impɔtant tin na dat nɔto ɔl dɛn sik ya kin apin to ɔl pikin. Dɔn bak, jɔs fɔ gɛt dɛn sik ya nɔ min se pikin gɛt Fragile X. I impɔtant fɔ go to dɔktɔ fɔ mek dɛn no di sik kɔrɛkt wan.
Di link bitwin Fragile X ɛn ɔtizm
Wan tin de we gɛt fɔ du wit dɛn tu tin ya. Na lɛk 40% pan di pikin dɛm wae gɛt Fragile X kin gɛt ɔtizm bak. Dɔn bak, lɛk 80% pan di pikin dɛn kin gɛt prɔblɛm fɔ pe atɛnshɔn, lɛk `ADD` ɔ `ADHD`.
Aw dis sik kin pas fɔ lɔng lɔng tɛm?
Dis na tin we kɔmplikt smɔl, bɔt a go ɛksplen am simpul wan.
As yu no, na di jin dɛn de kɔntrol ɔltin na wi bɔdi. dis kכndyushכn de kכz fכ wan mכtεshכn insay wan jin we dεn kכl FMR1 . Dis jin de na di X kromozom . wan protin we dis FMR1 jin mek imכtant fכ di nεv sεl dεm na di bren fכ kכmכnik wit dεn wan dεm. dis protin nid fכ mek pikin in bren divεlכp fayn fayn wan.
Pikin dεm we gεt Fragile X de prodyuz bכku כ nכ de prodyuz dis protin na dεn bכdi.
imajin, wan pat de we dεn kכl 'CGG' insay dis FMR1 jin. Insay pɔsin we gɛt wɛlbɔdi, na 5 to 40 tɛm nɔmɔ dɛn kin ripit dis pat. Bɔt pan pikin we gɛt Fragile X, dɛn kin ripit dis pat pas 200 tɛm . Di mכr tεm we dis ripit de apin, na di mכr di sayn dεm kin tranga.
Udat dis de kam frɔm to di pikin?
- Frɔm di mama: If mama na pɔsin we gɛt dis chenj FMR1 jin, in pikin (ilɛksɛf na man ɔ uman) gɛt 50% chans fɔ gɛt dis sik.
- Frɔm di papa: If papa gɛt dis jin, na uman pikin dɛn nɔmɔ go gɛt am frɔm am. Man pikin dεm nכ de gεt dis jin biכs dεn de gεt di Y kromozom frכm dεn papa.
Dis na di rizin we mek bɔy pikin dɛn kin gɛt dis sik bad bad wan. Bikɔs gyal pikin dɛn gɛt tu X kromozom dɛn, ivin if wan gɛt prɔblɛm, di ɔda wan we gɛt wɛlbɔdi X kromozom kin kɔntrol di damej te to sɔm mak.
Diagnosis ɛn tritmɛnt
No risk factors nɔr de wae dɛn kin kɔntrol. De men risk na wae yu famili gɛt dis sik. So, if pɔrsin na yu famili gɛt histri wae gɛt disabled fɔ lan ɔr ɔtizm, yu kin tɔk to yu dɔktɔ bɔt fɔ gɛt kɔyl fɔ yu jɛnɛtik bifo yu bɔn pikin.
Aw fɔ no di sik?
- we uman bεlε: dεn kin tεst dis ivin bifo dεn bכn di pikin. tεst dεm we dεn kכl amniocentesis (we de egzamin di amniotic fluid na di bεlε) כ chorionic villus sampling (CVS) (we de egzamin wan pat pan di plasεnta) dεn kin yuz fכ si if di FMR1 jin mכtεshכn de.
- Afta dɛn bɔn am: Dɛn kin no dis sik kɔrɛkt wan bay we dɛn du simpul blɔd tɛst afta dɛn bɔn di pikin.
Wetin na di tritmɛnt dɛn?
Fɔs, mɛmba se no mɛrɛsin nɔ de fɔ Fragile X yet. Bɔt bɔku tritmɛnt dɛn de we kin ɛp fɔ kɔntrol di sik dɛn ɛn ɛp di pikin fɔ liv bɛtɛ layf. Di kwik we dɛn bigin fɔ gi dɛn tritmɛnt ya, na di mɔ di tin dɛn we go apin go fayn.
| Di we aw dɛn de trit am ɛn aw fɔ mɛn am | |
|---|---|
| Tɛrapi we dɛn kin gi |
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| Edukeshon ɛn envayrɔmɛnt | |
| Mɛrɛsin dɛn we dɛn kin yuz | Di dɔktɔ kin gi am mɛrɛsin fɔ kɔntrol di tin dɛn lɛk we i de fil lɛk we i de sik, we i nɔ de pe atɛnshɔn, we i de wɔri, ɛn we i de fil bad. Nɔ gi yu pikin ɛni mɛrɛsin if yu nɔ gɛt dɔktɔ advays. |
Aw di tin kin apin we pɔsin big?
Fragile X na wan sik we pɔsin kin gɛt we i de liv in layf. Bɔt if dɛn sɔpɔt ɛn tritmɛnt di rayt we, bɔku pipul dɛn kin liv fayn layf. Na lɛk wan pat pan tri uman dɛn kin liv fɔ dɛnsɛf. Bɔku tɛm, man dɛn nid mɔ sɔpɔt.
Dis sik nɔ de mek dɛn layf shɔt. Dɛn gɛt di sem layf we pɔsin we gɛt wɛlbɔdi kin liv. Di impɔtant tin na fɔ no wetin dɛn ebul fɔ du ɛn ɛnkɔrej dɛn fɔ du dat.
Mɛsej we dɛn kin kɛr go na os
- Fragile X syndrome na wan jεnεtik kכndyushכn we de pas dכn tru jεnereshכn. Nɔto ɛnibɔdi in fɔlt.
- Dis kin afɛkt bɔy pikin dɛn bad bad wan.
- E kin bi wae yu nɔr kin ebul fɔ lan, yu nɔr kin ebul fɔ tɔk fayn, yu kin gɛt prɔblɛm wit yu bihayvya, ɛn sɔm kayn sayn dɛm wae yu kin gɛt na yu bɔdi.
- I rili impɔtant fɔ no di sik kwik kwik wan ɛn bigin di rayt tritmɛnt (fɔ tɔk, wok, bihayvya tɛrapi) fɔ di pikin.
- Pan ɔl we no kɔmplit mɛrɛsin nɔ de fɔ dis, if dɛn de kia fɔ di pikin fayn fayn wan ɛn sɔpɔt am wit lɔv, dɛn kin ɛp am fɔ liv layf we gɛt minin ɛn gladi at.
- If yu gɛt ɛnitin fɔ wɔri bɔt aw yu pikin de gro, tɔk to yu dɔktɔ we de mɛn pikin dɛn (dɔktɔ) ɛn nɔ de te.
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