Aw yu gladi fɔ si di nyu tin we dɛn dɔn ad to yu famili? Bɔt, imajin, if yu pikin in wan ol bɔdi bin kɔba wit tik, skel, skel skin jɔs afta dɛn bɔn am? Di shɔk ɛn fred we ɛni mama ɔ papa kin fil we i si dat, i nɔ kin izi fɔ tɔk bɔt. Tide wi go tɔk bɔt wan kayn sik we nɔ kin apin so ɔltɛm ɛn we kin rili siriɔs, we na Harlequin Ichthyosis. Nɔ fred we yu yɛri dis. Tide, we di sayɛns bɔt mɛrɛsin dɔn go bifo, bɔku we dɛn de fɔ mɛn dis sik. Lɛ wi lan mɔ bɔt am.
Fɔ tɔk am simpul wan, wetin na Harlequin Ichthyosis?
Harlequin Ichthyosis na di kayn sik wae kin pasmak ɛn siriɔs pasmak wae dɛn kɔl Ichthyosis . Ichthyosis na wan sik we kin apin we prɔblɛm de wit di we aw wi skin sɛl dɛn de gro ɛn day. Sɔm kayn Ichthyosis kin rili smɔl ɛn yu kin kɔntrol am wit gud kia fɔ yu skin. Bɔt, Harlequin Ichthyosis na wan sik we de mek pɔsin in layf de pan denja ɛn i nid fɔ go nia dɔktɔ frɔm we dɛn bɔn am.
Dis na sik we pɔsin kin gɛt frɔm in jɛnɛtiks . Dis min se na mama ɛn papa kin gɛt am to pikin dɛn. Dis sik nɔ kin bɔku so dat na lɛk wan pan ɛvri 500,000 pikin dɛn nɔmɔ i kin gɛt. Bɔt wit di advans tritmɛnt dɛn tide, pikin dɛn we dɛn bɔn wit dis sik gɛt di chans naw fɔ liv te dɛn big.
Wetin na di men sayn dɛm fɔ dis sik?
Di sayn dɛm fɔ dis sik kin difrɛn smɔl wit di pikin in ej. Di sayn dɛm we pikin we dɛn jɔs bɔn ɛn pikin we dɔn big smɔl kin gɛt kin difrɛn. Lɛ wi brok am lɛk dis fɔ ɔndastand am klia wan.
| Grup we dɛn ol | Di sayn dɛm we dɛn kin si bɔku tɛm |
|---|---|
| Bebi dɛn we dɛn jɔs bɔn |
|
| Pikin dɛn ɛn big pipul dɛn we dɔn big |
Dis sik kin mek pɔsin fil pen?
Yɛs, dis kin mek pikin we dɛn jɔs bɔn, fil pen. Tink bɔt di dip krak krak dɛn na di skin, di pen we de na di skin we de kɔmɔt. fכ dat, di dכkta dεm εn di nכs dεm na di nyu bכbi intensiv kεriכn yunit (NICU) de gi di pikin mεdikeshכn dεm we de mek i fil pen (e.g., Paracetamol, Ibuprofen). Dɛn kin mɛzhɔ di pen bay we dɛn de wach aw di pikin in at de bit ɛn kray, ɛn mek shɔ se dɛn fil fayn as dɛn ebul .
Wetin mek dis de apin? Wetin na di rizin?
di men rizin fכ dis na di mכtεshכn na di jin ABCA12 . Lɛ wi ɔndastand dis simpul wan.
tink bɔt dis ABCA12 jin as ‘Delivery Service’ we de transpɔt impɔtant tin dɛn lɛk fat (lipid) to di ɔda layt we de na wi skin. Dis layt we gɛt fat na in de mek wi skin ebul fɔ chenj ɛn gɛt wɛlbɔdi. Insay pɔsin we gɛt Harlequin Ichthyosis, bikɔs ɔf wan difrɛns na dis jin, da ‘Delivery Service’ de nɔ de wok fayn. Dis kin mek di fat nɔ kin rich na di skin sɛl dɛn fayn fayn wan, ɛn di skin sɛl dɛn kin gɛda ɔp dɛnsɛf, ɛn dɛn kin mek wan tik ɛn at layt.
Bikɔs dis na sik we pɔsin kin gɛt we i kam pan in jɛnɛtiks, fɔ mek pikin gɛt dis sik, i fɔ gɛt am frɔm in mama ɛn in papa.Dis jin we nɔ fayn fɔ gɛt frɔm am. If di mama ɛn papa ɔl tu gɛt di jin we nɔ fayn (we min se dɛn nɔ gɛt ɛni sayn, bɔt dɛn gɛt di jin), 25% (wan pan 4) chans de fɔ mek dɛn pikin gɛt di sik.
Aw dɔktɔ dɛn kin no ɛn trit dis sik?
Bɔku tɛm, dɔktɔ dɛn kin no di sik we dɛn bɔn am bikɔs ɔf di kayn we aw di pikin tan difrɛn. Bɔt dɛn kin du di jenɛtik tɛst fɔ no if i gɛt am. Ivin we uman gɛt bɛlɛ, dɔktɔ dɛn kin sɔprayz se i gɛt dis sik if dɛn si sayn dɛn lɛk we in skin de chenj ɔ we di pikin in mɔt de opin bɔku tɛm we dɛn de du ɔltra saund skan. if nid de, dεn kin no bak di kכndyushכn kwik wit spεshal tεst (lεk amniocentesis) we dεn bεlε.
Di we aw dɛn kin trit am
Harlequin Ichthyosis nɔto sik we pɔsin kin mɛn ɔl, bɔt dɛn kin ebul fɔ kɔntrol di sayn dɛm ɛn di pikin kin liv fayn, lɔng layf.
Dɛn kin sheb di tritmɛnt to tu men pat:
1. Nionatal Intensive Care Unit (NICU) Tritmεnt: Di fכs wik dεm we di pikin de liv na dεn wan dεm we i kin gεt mכst. Di tritmɛnt we dɛn kin gi dis tɛm na in kin sev di pikin in layf.
2. Lɔng tɛm mɛnejɛmɛnt na os: Kia fɔ ɔl yu layf afta yu dɔn kam bak na os frɔm di NICU.
Lɛ wi luk dis tritmɛnt ditayli.
| Di we aw dɛn kin trit am | Tɔk bɔt |
|---|---|
| NICU ( Nionatal Intɛnsiv Keya Yunit) Tritmɛnt | |
| Retinoid Tɛrapi | Dis na mɛrɛsin we dɛn kin gi am bay mɔt ɔ put am na di skin. I de ɛp di tik tik layt fɔ di skin fɔ kɔmɔt kwik kwik wan ɛn di skin we de ɔnda fɔ wɛl. Dis na di men rizin fɔ sev dɛn pikin ya layf dis biɛn tɛm. |
| Skin kia fɔ yu | Dɛn kin put spɛshal mɔstizayza ɛn ɔntmɛnt ɔltɛm fɔ mek di skin nɔ gɛt wata. Dɛn kin put antibayɔtik ɔntmɛnt fɔ mek di smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl. |
| Wan ples we gɛt bɔku bɔku wata | di humidity na di inkubator usay dεn de kip di pikin rili hכy. Dis kin mek di skin nɔ dray. |
| Nutrishɔn ɛn fɔ gi pikin in bɛlɛ | Bikɔs i nɔ ebul fɔ sok milk, dɛn kin gi am di it we i nid tru wan smɔl tiub we dɛn put insay in bɛlɛ (fidin tiub). |
| Lɔng tɛm manejmɛnt na os | |
| Fɔ was ɔltɛm | We yu was ɛvride, i kin ɛp fɔ mek di skin sof ɛn pul tik tik layers pan di skin we dɔn day. |
| Fɔ put mɔstizayza ɔltɛm | Yu fɔ put mɔstizayza ɔ sɔntin lɛk vatrolium jeli pan yu wan ol bɔdi bɔku tɛm insay di de. Dis go mek di skin nɔ dray ɛn krak. |
| Mitin wit spɛshal pipul dɛn | I impɔtant fɔ gɛt tayt padi biznɛs wit dɔktɔ we de mɛn yu skin . Dɔn bak, yu go nid fɔ go to spɛshal dɔktɔ dɛn fɔ di prɔblɛm dɛn we gɛt fɔ du wit yu yay, yes, ɛn jɔyn dɛn ɔltɛm. |
| Protekshɔn frɔm ay tɛmpracha | Bikɔs yu nɔ kin ebul fɔ swet, di bɔdi kin wam pasmak we di ples wam. So, yu nid fɔ tek tɛm wit di san ɛn di wam wam ples. |
Di tin we impɔtant pas ɔl na di lɔv, kia, ɛn trɛnk we mama ɛn papa ɛn famili gɛt. Dis na waka we nɔ izi fɔ waka. So, i rili impɔtant fɔ aks fɔ sɔpɔt frɔm dɔktɔ, advays, ɛn ɔda famili dɛn we gɛt pikin dɛn lɛk dis.
Mɛsej we dɛn kin kɛr go na os
- Harlequin Ichthyosis na wan sik we nɔ kin bɔku bɔt we kin rili bad bɔt di jenɛtik skin. I nɔ kin pas pɔsin.
- Dis kכndyushכn kin mek pikin we dεn bכn in layf de pan denja, so i impɔtant fכ gεt tritmεnt na nyu bכbi intensiv kεriכn yunit (NICU) fכ di fכs wik dεm.
- Tɛnki fɔ di mɛrɛsin dɛn we dɛn de yuz tide, mɔ di retinoid tritmɛnt , di rit we dɛn pikin ya de liv dɔn go ɔp bad bad wan.
- Dis na tin we pɔsin kin gɛt fɔ ɔl in layf. I impɔtant fɔ kia fɔ di skin ɔltɛm, gi yu di rayt it, ɛn fala di advays we spɛshal dɔktɔ dɛn gi yu.
- If dɛn de mɛn pipul dɛn fayn fayn wan, dɛn kin liv lɔng, kɔmfyut, ɛn gɛt minin layf.
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