Yu smɔl pikin bin rili taya, i nɔ bin gɛt layf, ɛn i nɔ bin izi fɔ am fɔ gi in bɛlɛ we dɛn bɔn am fɔs? Bɔt we i ol smɔl, arawnd tu ɔ tri ia, yu tink se i bigin fɔ sho se i nɔ lɛk fɔ it ɛn i nɔ want fɔ it? Yu kin wɔri smɔl ɛn fred wit dɛn chenj ya. Tide wi de tɔk bɔt wan rare jenɛtik kɔndishɔn we de sho dɛn kayn sik ya, we bɔku pipul dɛn na wi kɔntri nɔ yɛri bɔt, bɔt we rili impɔtant fɔ no bɔt. Dat na di sik we dɛn kɔl Prader-Willi Syndrome.
Wetin na di sik we dɛn kɔl Prader-Willi Syndrome (PWS)?
Fɔ tɔk am simpul wan, Prader-Willi syndrome (PWS) na wan sik we nɔ kin apin so ɔltɛm we dɛn bɔn am. I de afɛkt di pikin in mɛtabolism, di prɔses we di it we wi de it de chenj to ɛnaji. I kin afɛkt bak di pikin in divɛlɔpmɛnt ɛn di we aw i de biev.
Yu kin si tu men stej dɛm na dis sityueshɔn.
1. di pikin in mכsul dεm we i de fכm: di pikin in mכsul dεm nכ gεt layf כ i gεt bכku bכku mכsul dεm. Dis kin mek i rili at fɔ gi pikin milk. Di pikin kin slip ɛn i kin taya.
2. Ali Pikin: Bitwin 2 ɛn 6 ia, sɔntin kin apin we rili difrɛn. Dat min se di pikin kin gɛt wan sik we i nɔ ebul fɔ kɔntrol, ɛn i kin want fɔ it pasmak. Ilɛk ɔmɔs i it, i nɔ de fil ful. If dɛn nɔ kɔntrol dis we aw i de it pasmak, di pikin kin fat bad bad wan.
Apat frɔm dɛn men sayn ya, di pikin kin mis di tin dɛn we i kin du we i dɔn ol, lɛk fɔ kray, fɔ waka, ɛn fɔ tɔk. Puberty kin delay bak. If dɛn nɔ de manej am fayn, if pɔsin fat, i kin mek i gɛt prɔblɛm dɛn we go mek i day lɛk at sik, dayabitis, ɛn we pɔsin nɔ ebul fɔ blo fayn we i de slip.
Udat kin gɛt dis sik? Aw i kɔmɔn?
Dis na wan jenɛtik kɔndishɔn we kin afɛkt ɛnibɔdi. bכku tεm i kin kכz fכ wan random jεnεtik chenj we kin apin we di mama εn papa in jεm sεl dεm fכm. Dis min se nɔto bikɔs ɔf ɛni mama ɛn papa fɔlt. Na smɔl tɛm nɔmɔ, if pɔsin na di famili dɔn gɛt dis sik, smɔl chans de fɔ mek dɛn pas am to di jɛnɛreshɔn dɛn.
I so kɔmɔn dat Prader-Willi syndrome kin afɛkt lɛk wan pan ɛvri 10,000 to 30,000 pipul dɛm ɔlsay na di wɔl. Dis min se na wan sik we nɔ kin apin so ɔltɛm.
Wetin na di sayn dɛm wae de sho se yu gɛt Prader-Willi syndrome?
Dɛn sayn ya kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin, bɔt sɔm kayn sik de wae kin kam pan pɔrsin. Lɛ wi kategoriz dɛn dis we fɔ mek dɛn klia mɔ.
| Tayp we gɛt kwaliti dɛn | Tin dɛn we pipul dɛn kin si |
|---|---|
| Di kwaliti dɛn we pikin kin gɛt (Infancy) . |
|
| Di kwaliti dɛn we gɛt fɔ du wit di we aw di bɔdi de luk | |
| Di kayn we aw pɔsin de biev ɛn di we aw i de divɛlɔp |
Di tin we impɔtant pas ɔl fɔ mɛmba ya na dat, we pɔsin fat, we kin kam wit `(Hyperphagia)`, kin mek pɔsin gɛt bɔku ɔda siriɔs sik dɛn lɛk dayabitis ɛn at sik.
Wetin mek dis sik kin apin? Wetin na di jenɛtik kɔz?
Dis na tin we kɔmplikt smɔl, bɔt lɛ wi tray fɔ ɔndastand am simpul wan.
Ɛni wan pan wi sɛl dɛn gɛt wan paket we gɛt tin dɛn we gɛt fɔ du wit di jɛnɛtiks. Wi kin kɔl dɛn kromozom ya . Wi kin gɛt 23 pan dɛn kromozom ya frɔm wi mama ɛn 23 frɔm wi papa. Prader-Willi syndrome kin kam bikɔs ɔf prɔblɛm wit di pat pan di kromozom 15 we wi kin gɛt frɔm wi papa.
Sɔntin spɛshal kin apin na ya. Dɛn kɔl am `(jɛnomik imprintin)`. fכ simpul wan, insay sכm jin dεm na di kromozom 15, di kכpi frכm di papa de swich ‘on’, εn di kכpi frכm di mama de swich ‘כf’. dis ‘on’, dat min se di aktif kכpi frכm di papa implεnt fכ di bכdi fכ wok fayn fayn wan . Insay PWS, dis aktif kɔpi frɔm di papa kin lɔs in wok.
Tri men rizin dɛn kin de fɔ dis.
| Jɛnɛtik kɔz | Fɔ ɛksplen am simpul wan |
|---|---|
| Kromozom dεlishכn | Dis na di kɔz fɔ 70% pan di PWS pasɛnt dɛn. insay dis kes, dεn kin dεlit wan sכm pat pan di kromozom 15 we dεn gεt frכm di papa. So, di jin dεm we nid de nכ de wok. |
| Maternal uniparental disomy we di mama ɛn papa gɛt | Dis na di kɔz fɔ lɛk 25% pan di PWS kes dɛm. wetin kin apin na di pikin nכ de gεt kromozom 15 frכm di papa, bכt i de gεt tu kכpi kromozom 15 frכm di mama. biכs di rilevεnt jin dεm na di tu kכpi dεm frכm di mama de ‘כf’, nכn pan di aktv jin dεm nכ de lכs. |
| Wan translokeshɔn | Dis kin rili rare (lɛs dan 1%). insay dis kes, wan pat pan di kromozom 15 de brok εn atak כda kromozom. Dis kin mek dɛn jin dɛn de nɔ kin ebul fɔ wok fayn. |
Aw dɔktɔ kin no bɔt dis sik?
We yu go to dɔktɔ bikɔs yu de wɔri bɔt di sik dɛn we yu pikin gɛt, di fɔs tin we i go du na fɔ mek yu pikin chɛk in bɔdi gud gud wan. I go tek tɛm wach aw yu pikin de luk, in mɔsul dɛn, ɛn aw i de biev. I go aks yu bak bɔt aw yu pikin de it ɛn aw i de delay fɔ gro.
If di dɔktɔ sɔspɛkt PWS bay dɛn simptom ya, i go ɔda fɔ mek dɛn du jenɛtik tɛst fɔ kɔnfirm am.dis kin bi bay we dεn tek blכd sεmpl frכm di pikin εn no di chenj dεm na di DNA we de insay am .
Aw dɛn kin trit am? Yu tink se i nɔ pɔsibul fɔ mɛn am kpatakpata?
Infakt, nɔr mɛrɛsin nɔr de yet fɔ Prader-Willi syndrome. Bɔt nɔ wɔri. Bɔrku tritmɛnt de wae kin ɛp yu fɔ kɔntrol de sik, fɔ mek yu nɔr gɛt prɔblɛm, ɛn ɛp yu pikin fɔ liv fayn layf. Di men gol dɛm fɔ tritmɛnt na fɔ:
- di mεnεjmεnt fכ it: Yu kin yuz spεshal tin dεm lεk bכtul nipl fכ εp yu pikin fכ drink milk we i bεlε. As yu pikin de ol, i impɔtant fɔ mek yu it tin dɛn we nɔ gɛt bɔku kalori ɛn we gɛt balans ɛn kɔntrol di it dɛn we i de it strikt wan. Sɔntɛnde, i kin ivin nid fɔ lɔk tin dɛn lɛk kɔba ɛn frij na os.
- Ɔmon tɛrapi: Dɛn kin gi di pikin ɔmon we de mek i gro fɔ ɛp di pikin fɔ gro. As di pikin de go bifo, i kin nid fɔ gi bɔy pikin dɛn tɛstostɛron ɛn gyal pikin dɛn kin nid ɛstrojen.
- Di Tɛrapi dɛn we De Sɔpɔt:
- Fizik tritmɛnt: I de ɛp fɔ mek di mɔsul dɛn strɔng ɛn fɔ mek di bɔdi balans fayn fayn wan.
- Speech-language therapy: I de ɛp fɔ pul di prɔblɛm dɛn we pɔsin kin gɛt we i de tɔk.
- Speshal ɛdyukeshɔn: I de gi sɔpɔt fɔ di lanin aktiviti dɛn we dɛn mek fɔ di pikin in sɛns.
Aw di tumara bambay go tan lɛk if mi pikin gɛt PWS?
Na nɔmal tin fɔ mek mama ɛn papa dɛn fil fɔ sɔprayz ɛn fred we dɛn no bɔt dis sik. Bɔt mɛmba se, if dɛn no di sik kwik kwik wan ɛn kɔntinyu fɔ gɛt tritmɛnt ɛn sɔpɔt, pikin dɛn we gɛt PWS kin liv nɔmal layf.
Yɛs, prɔblɛm dɛn de. Dɛn go nid ɛkstra ɛp fɔ du skul wok. Dɛn go nid sɔm lɛvul fɔ sɔpɔt dɛn ɔlsay na dɛn layf. Bɔt dɛn kin ɛp dɛn bak fɔ bi indipɛndɛnt as dɛn ebul ɛn fɔ yuz di tin dɛn we dɛn ebul fɔ du fayn fayn wan.
I impɔtant fɔ mit wit pɔsin we sabi bɔt it fɔ mek wan it plan we go fayn fɔ yu pikin, ɛn fɔ aks fɔ advays frɔm pɔsin we de advays yu bɔt mental wɛlbɔdi biznɛs . Dɔn bak, fɔ jɔyn sɔpɔt grup wit ɔda mama ɛn papa dɛn we gɛt di sem ɛkspiriɛns we yu gɛt, dat go mek yu gɛt bɔku trɛnk.
Us kwɛstyɔn dɛn yu fɔ aks di dɔktɔ?
We yu go si dɔktɔ, nɔ fɔgɛt fɔ aks dɛn kwɛstyɔn ya.
- Wetin a fɔ du fɔ mek mi pikin nɔ fat?
- Us tritmɛnt dɛn di pikin nid? Aw dɛn kin gi dɛn?
- Us prɔblɛm dɛn we a kin gɛt frɔm mi pikin fɔ biev?
- Sɔpɔt grup dɛn de we wi kin rich to fɔ ɛp fɔ liv wit dis sik?
- Yu tink se di ɔda pipul dɛn na mi famili nid fɔ du dɛn jenɛtik tɛst?
Na nɔmal tin fɔ mek yu fil bad we yu kam fɔ no se yu pikin gɛt wan sik we nɔ bɔku ɛn we nɔ go mɛn. Bɔt nɔto yu wan de. Yu pikin in mɛdikal tim go gi yu di sɔpɔt ɛn gayd we yu nid. Yu pikin kin nid smɔl mɔ tɛm ɛn ɛp pas ɔda pikin dɛn. Bɔt if yu de manej yu pikin di rayt we, yu pikin bak go gladi.
Mɛsej we dɛn kin kɛr go na os
- Prader-Willi syndrome (PWS) na wan jεnεtik kכndyushכn we de apin randomly εn nכ de kכz fכ eni fכlt fכ di mama εn papa.
- Di fɔs sayn dɛm na we di mɔsul dɛn wik ɛn i nɔ kin izi fɔ drink milk. Leta, pɔsin kin want fɔ it we pɔsin nɔ ebul fɔ kɔntrol insɛf.
- Di big prɔblɛm we dɛn kin gɛt pan dis sityueshɔn na fɔ kɔntrol di it ɛn fɔ mek pɔsin nɔ fat ɛn di prɔblɛm dɛn we kin apin to am.
- Pan ɔl we no kɔmplit mɛrɛsin nɔ de fɔ dis, di rayt we fɔ mɛn di pikin, fɔ trit am, ɛn fɔ sɔpɔt am ɔlsay na in layf kin ɛp di pikin fɔ liv ful layf.
- If yu gɛt ɛnitin fɔ wɔri bɔt aw yu pikin de gro ɔ aw i de biev, tɔk to yu dɔktɔ wantɛm wantɛm. Fɔ no am kwik kwik wan rili impɔtant fɔ mek di tritmɛnt go bifo.
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