Sɔntɛnde wi dɔn si pipul dɛn we shɔt pas avɛrej fa fawe, dat na, shɔt, nɔto so? Sɔntɛm na fim dɛn, ɔ ivin na rial layf. Wan rizin fɔ dis kin bi wan sik we dɛn kɔl Chondrodysplasia. Nɔ fred we yu yɛri dis nem. dis na rili wan jεnarכl nem fכ sεvεra sik dεm we de fכm di bon dεm we de kכz fכ chenj dεm na wi bכdi in jin dεm. Bɔku tɛm, dɔktɔ dɛn kin no dis sik lɛk aw dɛn bɔn pikin.
Tink bɔt am, dis nɔto jɔs wan kayn sik. Na wan say, sɔm pipul dɛm wae gɛt dis sik kin liv nɔrmal layf wae nɔr gɛt bɔrku prɔblɛm. Fɔ ɛgzampul, di wan dɛn we dɔn wach ‘Game of Thrones’ go no di pɔsin we Tyrion Lannister gɛt. Di aktɔ we de ple da pɔsin de, we nem Pita Dinklage, gɛt wan sik we dɛn kɔl Achondroplasia, we de pan di kayn Chondrodysplasia. I de liv fayn ɛn ful layf. Bɔt, na di ɔda say, dɛn kin gɛt dis sik bak we rili bad ɛn we kin mek pɔsin fil pen. wan egzampl na Rhizomelic Chondrodysplasia Punctata (RCDP1). Dis sik kin mek di pikin dɛn nɔ ebul fɔ gro fayn, dɛn gɛt prɔblɛm wit dɛn bon dɛn, dɛn kin gɛt prɔblɛm wit dɛn maynd , ɛn dɛn kin gɛt katarakt . Bɔrku pikin dɛm wae gɛt dis kayn sik nɔr kin liv pas aw dɛn smɔl. Bɔt op de. Risach pipul dɛm de tray fɔ fɛn mɛrɛsin fɔ RCDP1.
Wetin na di rizin dɛn we mek dɛn de du dis?
Fɔ tɔk am simpul wan, dɛn tin ya kin apin bikɔs ɔf dɛn jɛnɛtiks . Dis min se na sɔm chenj ɔ difrɛn tin dɛn we de na di jin dɛn we de insay di sɛl dɛn na wi bɔdi kin mek dɛn. Sɔntɛnde, dɛn kin gɛt dɛn jɛnɛtiks difrɛns ya frɔm mama ɛn papa to pikin dɛn. Wan siriɔs kɔndishɔn we dɛn kɔl RCDP1 na wan pan dɛn kayn tin ya we dɛn kin gɛt frɔm dɛn mama ɛn papa.
Bɔt di kayn we we kɔmɔn pas ɔl, lɛk Achondroplasia, kin bi bikɔs ɔf wan random mutation. Dis min se pikin kin gɛt am ilɛksɛf ɛni wan pan dɛn mama ɛn papa gɛt dis sik.
Wetin na di sayn dɛm fɔ dis sik?
Apat frɔm di kayn we aw pɔsin de luk, di sayn dɛm de dipen pan di kayn Chondrodysplasia we dɛn gɛt. di men sayn dεm na sכt ayt (sכt sכt) εn big pas nכmal ed saiz . Bɔt ɔda sayn dɛn de we kin apin. Lɛ wi tek wan luk pan wetin dɛn bi.
| Bɔdi pat usay di simptom kin apin | Prɔblɛm we pɔsin kin gɛt |
|---|---|
| di bren divεlכpmεnt | pan sכm kayn dεm, di bren divεlכpmεnt kin afekt εn mental rεtardεshכn kin apin. Bɔt pan kayn tin dɛm lɛk Achondroplasia, dɛn nɔ kin si mental retardation. |
| Kanda | Skin kin rɔf ɛn i kin flay. |
| Mɔt | Klɛft palata. |
| Yay | Vision impairment bikɔs ɔf katarakt. |
| Spine | di כkכrεshכn fכ spεnal difכmiti dεm. |
Aw dɛn kin du di diagnosis?
Bɔku tɛm, dɔktɔ kin tink se pikin gɛt dis sik jɔs afta dɛn bɔn am, bikɔs i kin izi fɔ no di sayn dɛn lɛk we in an dɛn dɔn shɔt ɛn in ed big .
Fɔ mek dɛn no dis, di dɔktɔ tɛl dɛn fɔ mek dɛn tek ɛkstrem rayt . Di ɛkstrem rayt sho se di bon dɛn na di pikin in an ɛn leg dɛn shɔt ɛn wayd we nɔ kɔmɔn.
apat frכm dat, dεn kin no di kכndyushכn dεm lεk Achondroplasia ivin wit כ ltra saund skan we di pikin stil de na di bεlε. If yu want fɔ bi 100% shɔ bɔt di diagnosis, ivin spɛshal jenɛtik tɛst dɛn de fɔ dat.
Wetin na di tritmɛnt dɛn?
Di tritmɛnt we yu pikin go gɛt go dipen pan di kayn Chondrodysplasia we i gɛt. De impɔtant tin fɔ ɔndastand ya na dat, bɔrku tritmɛnt nɔr kin ebul fɔ mek pikin in ayt , bɔt dɛn kin ɛp fɔ stɔp ɛn mɛn ɔda wɛl bɔdi prɔblɛm dɛm wae gɛt fɔ du wit am.
- Fɔ wan sik we nɔ bad lɛk akɔndroplasia: If yu pikin gɛt wɛlbɔdi, ɔl wetin yu nid fɔ du na fɔ go to yu dɔktɔ we de mɛn pikin dɛn ɔltɛm fɔ chɛk if yu pikin de wɛl. If ɛni prɔblɛm kam, yu go nid fɔ gi yu di tritmɛnt we yu nid.
- If tin tranga, wan tim we gɛt spɛshal pipul dɛn kin de fɔ trit di pikin. Bɔku pipul dɛn, lɛk di wan dɛn we de mɛn dɛn bɔdi ɛn di wan dɛn we sabi bɔt it, go nid fɔ tek pat pan di wok. Bɔku tɛm, dis tritmɛnt kin apin na ɔspitul.
Mɔ bɔt tritmɛnt
Sɔm tɛm dɛn we nɔ kin apin so ɔltɛm, we dɛn gi di ɔmon dɛn we de mek di bon dɛn gro , dat dɔn ɛp fɔ mek di bon dɛn gro, bɔt i nɔto garanti fɔ mɛn am. di hכmon dεm we de mek di pikin gro nכ de mכr kכndyushכn lεk achondroplasia.
Sɔm pipul dɛn kin du ɔpreshɔn fɔ mek dɛn an ɛn fut lɔng . Bɔt dis na wan we we pipul dɛn kin agyu bɔt bad bad wan. Na bikɔs i gɛt prɔblɛm dɛn ɛn i kin rili mek pɔsin fil pen. Bɔku tɛm, dis ɔpreshɔn kin jɔs mek di ayt go ɔp fɔ sɔm inch. Bikɔs dis siriɔs ɔpreshɔn kin rili tranga fɔ bɔdi ɛn maynd, dɔktɔ dɛn kin se dɛn fɔ put dis ɔpreshɔn bifo te di pikin dɔn ol fɔ ɔndastand ɛn ebul fɔ disayd fɔ insɛf.
Wetin na di prɔblɛm dɛn we kin apin?
Bɔrku kayn chondrodysplasia nɔr kin de pan pɔrsin in layf, bɔt dɛn kin kam wit prɔblɛm wae de mek pɔrsin fil pen ɛn fɔ lɔng tɛm. Yu dɔktɔ kin ɛp yu fɔ kɔntrol dɛn tin ya.
| Kɔmplikɛshɔn | Simpul ɛksplen |
|---|---|
| I nɔ kin izi fɔ yu fɔ blo | Di smɔl saiz we di chɛst gɛt kin mek i nɔ izi fɔ blo. |
| Bak pen ɛn spɛshal trakshɔn | di chenj na di spayna kin mek yu fil pen ɛn stif. |
| Stɛnɔsis we de na di spaynal | di nεv kכmpreshכn bikoz fכ di kanal we di spεnal kכd de pas insay di spayna de sכmtεm sכmtεm sכmtεm. |
| Jɔyn kwɛstyɔn dɛn | Jɔyn pen ɛn i nɔ kin izi fɔ muv. |
| Infεkshכn dεm na di lכng bכku tεm | di chenj we yu de chenj di we aw yu de blo kin mek yu gɛt infεkshכn na di lכng bכku tεm. |
| Di sik dɛn we kin mek pɔsin sik | Sɔm siriɔs kes dɛm, di sik kin apin bikɔs ɔf di ifɛkt dɛm pan di bren divɛlɔpmɛnt. |
| Slip apnɛa fɔ slip | Fɔ stɔp fɔ blo fɔ smɔl tɛm we yu de slip. |
Aw yu go gɛt sɔpɔt fɔ yusɛf ɛn yu pikin?
We yu de liv wit dis sik, sɔpɔt fɔ yu ɛn yu pikin ɔl tu impɔtant. Pipul wae gɛt dis sik nɔr kin lɛk fɔ trit dɛn lɛk spɛshal. Bɔt sɔntɛnde pipul dɛn na sosayti kin tray fɔ put dɛn na kɔna ɛn nɔ ɔndastand dɛn. Ɛspɛshali na skul, chans de fɔ mek dɛn kɔmpin dɛn buli dɛn .
So, i rili fayn fɔ go to advays fɔ ɛp di pikin fɔ bia wit dis prɔblɛm ɛn fɔ ɛp ɔda pipul dɛn fɔ ɔndastand dis. Dɔn bak, sɔpɔt grup dɛn de we famili dɛn we gɛt pikin dɛn lɛk dis dɔn mek. Tru dɛn, una kin sheb infɔmeshɔn, tɔk bɔt ɛkspiriɛns, ɛn bi sɔs fɔ trɛnk to unasɛf.
Mɛsej we dɛn kin kɛr go na os
- Chondrodysplasia nɔto wan sik. na jεnarכl tεm fכ nכmba כf jεnεtik kכndishכn dεm we de afekt bon divεlכpmεnt.
- Aw dis sik kin tranga kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Pan ɔl we sɔm pipul dɛn kin gɛt smɔl prɔblɛm dɛn, ɔda wan dɛn kin gɛt siriɔs prɔblɛm dɛn. Bɔrku pipul dɛm wae gɛt dis sik lɛk achondroplasia de liv ful, sakrifays layf.
- Di men gol fɔ tritmɛnt nɔto fɔ mek yu ay pasmak, bɔt fɔ manej di wɛlbɔdi prɔblɛm dɛn we gɛt fɔ du wit am (lɛk bak pen, prɔblɛm fɔ blo).
- Wae yu no se yu pikin gɛt dis sik, i rili impɔtant fɔ go to wan tim we gɛt spɛshal dɔktɔ dɛn ɛp.
- Apat frɔm mɛrɛsin tritmɛnt, saykilɔjik sɔpɔt ɛn advays fɔ di pikin ɛn in famili bak rili impɔtant. I impɔtant fɔ mek di pikin gɛt trɛnk fɔ mek i gɛt sɔshal harassment.
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