Yu pikin gɛt dis sik we nɔ kin bɔku na in skin? Lɛ wi tɔk bɔt Harlequin Ichthyosis

Bɔku tɛm, pikin we dɛn jɔs bɔn in skin kin rili smɔl ɛn saf, nɔto so? Bɔt tink bɔt am, sɔntɛnde dɛn kin bɔn sɔm pikin dɛn wit sik dɛn we nɔ kin apin so ɔltɛm, we kin rili siriɔs smɔl. Wan pan dɛn kayn sik ya we nɔ kin apin so ɔltɛm, ɛn we yu luk am fɔs, dɛn kɔl am Harlequin Ichthyosis. Yu kin fil fɔ wɔri smɔl we yu yɛri bɔt dis, bɔt lɛ wi tɔk bɔt am ditayli ɛn simpul wan.

Wetin na Harlequin Ichthysis?

Fɔ tɔk am simpul wan, Harlequin Ichthyosis na wan sik we nɔ kin apin so ɔltɛm we kin apin to pikin dɛn we dɛn jɔs bɔn. we dεn bכn pikin wit dis kכndyushכn, dεn כl bכdi de kכba wit tik, had, skel plet dεm fכ skin. Dɛn tan lɛk tin dɛn we tan lɛk dayamɔn. Dɛn plet dɛn ya so at dat dɛn kin krak ɛn pul.

Dis tayt we di skin tayt kin ivin chenj di shep we di pikin in fes gɛt. Di say dɛn lɛk di yes, di yaylid, di nos, ɛn di mɔt kin strɛch ɛn nɔ fayn. Nɔto dat nɔmɔ, bɔt di muvmɛnt we di an ɛn fut dɛn kin muv smɔl, ɛn i kin ivin at fɔ it ɛn blo.

Wi skin tan lɛk sɔntin we de protɛkt wi bɔdi ɛn di tin dɛn we de arawnd wi. bכt insay dis kes fכ Harlequin Ichthyosis, dis prכtektiv barεri de disrupt bikoz fכ dεn abnכmaliti dεm ya na di pikin in skin. Dɔn, na di prɔblɛm dɛn we kin kam:

• I kin at fɔ kɔntrol di wata we de kɔmɔt na di bɔdi.
• Dɛn nɔ kin ebul fɔ kip di bɔdi in tɛmpracha fayn fayn wan.
• Di ebul fɔ fɛt infɛkshɔn kin go dɔŋ.

Dis kin mek di pikin nɔ gɛt wata na in bɔdi ɛn i kin gɛt siriɔs infɛkshɔn we kin mek i day insay di fɔs wik dɛn we i dɔn liv. Afta di nyu bɔbɔ, dɛn tik tik layers dɛn de kin kɔmɔt smɔl smɔl, ɛn lɛf wan rɛd ɛn skel ɔlsay na di pikin in skin.

Harlequin Ichthyosis na di kayn we we kin rili bad fɔ di skin sik we dɛn kɔl ichthyosis. I pas 20 difrɛn kayn ichthyosis. εgzampl dεm na lamellar ichthyosis εn ichthyosis vulgaris. Trade, pikin dɛn we dɛn bɔn wit Harlequin Ichthyosis bin gɛt rili smɔl layf rɛt. Bɔt we dɛn de trit pikin dɛn fayn fayn wan ɛn we dɛn de kia fɔ dɛn bad bad wan, dɛn kin gɛt bɔku chans fɔ liv we dɛn smɔl ɛn we dɛn dɔn yɔŋ.

Dɛn kin kɔl dis sik wit ɔda nem dɛm:

• ``Autosomal rεsεsiv kכnεnital ichthyosis — harlequin tכp ichthyosis''.
• `Harlequin bebi sindrom`
• `Harlequin fetus`
• `Ichthyosis we dɛn bɔn wit`
• `Ichthyosis fetalis we de na di bɔdi`

Aw dis sik kin kɔmɔn?

Dis na tin we nɔ kin apin so ɔltɛm. Ivin na kɔntri lɛk Amɛrika, dis sik kin ambɔg lɛk wan pan ɛvri 300,000 to 500,000 pikin dɛn we dɛn bɔn.Dis na tin we nɔ kin apin so ɔltɛm na Sri Lanka.

Wetin na di sayn dɛm fɔ Harlequin Ichthyosis?

Bɔku tɛm, dɛn kin bɔn pikin dɛn we gɛt Harlequin Ichthyosis bifo tɛm. We dɛn bɔn dɛn, dɛn bɔdi kin kɔba wit tik tik skel dɛn we tan lɛk plet. di skin tik so dat dip fis dεm de fכm bitwin di skel dεm. כlso, di pikin in yaylid dεm εn in lip dεm de tכn insay aut biכs di skin de strεch. Di chɛst ɛn di bɛlɛ kin strɛch tayt, we kin mek i nɔ izi fɔ blo ɛn it.

Na sɔm ɔda sayn dɛn ya:

• Fɔ gɛt flat nos.
• Dɛn kin put di yes dɛn lɛk se dɛn tay pan di ed.
• An ɛn fut kin smɔl ɛn swel.
• Nɔr nɔrmal fɔ yɛri.
• Infεkshכn dεm we de apin na di rεspiretכri bכku tεm.
• Di jɔyn dɛn we de muv go dɔŋ.
• Lɔw bɔdi tɛmpracha.

Wetin kin mek dis apin?

di men tin we de mek Harlequin Ichthyosis na wan jεnεtik mכtεshכn na di jin we dεn kכl ABCA12 . dis ABCA12 jin de instrכkt wi bכdi fכ prodyuz wan protin we implεnt fכ mek di hεlty skin sεl dεm gro. wan pan di imכtant wok dεm we dis protin de du na fכ transpכt di lipid dεm to di כta pat na di skin, di εpidamis, εn mek wan barεri we de protεkt.

pan pipul dεm we gεt dis sik, di bכdi de prodyuz bכku כ nכ de prodyuz ABCA12 protin. dis de ambɔg di nכmal divεlכpmεnt fכ di epidamis, we de mek i gεt siriכs simptom dεm.

dis kכndishכn de inhεrit insay wan כtosom rεsεsiv we. Fɔ tɔk am simpul wan, dis min se pikin fɔ gɛt tu kɔpi fɔ di jin we di sik afɛkt – wan frɔm di mama ɛn wan frɔm di papa. Dɛn mama ɛn papa dɛn ɔl tu kin bi pipul dɛn we gɛt di jin we dɔn chenj. Dis min se dɛn gɛt di jin, bɔt bɔku tɛm dɛn nɔ kin sho di sayn dɛm.

Wetin na di prɔblɛm dɛn we kin apin?

Di kɔmplikeshɔn dɛm wae de kam wit Harlequin Ichthyosis kin difrɛn pan aw dɛn kin tranga. Sɔm pan di prɔblɛm dɛn we kin apin na:

• Di ia we de gro smɔl.
• Difɔmiti dɛn na di nel dɛn.
• Bɔku tɛm, di skin kin it.
• I nɔ izi fɔ bia wit ɔt ɛn kol.
• Infεkshכn dεm na di skin we de kam bak.
• Ilektrolayt imbalans na di bɔdi.
• di mכsul dεm, di tεndon dεm, di skin, εn כda tisu dεm stif εn at.
• Di prɔblɛm we pɔsin kin gɛt we i de blo ɛn we i nɔ kin wok fayn.
• Sepsis na wan sik we kin kam wantɛm wantɛm ɛn we kin rili bad.

Aw dɛn kin du di diagnosis?

Bɔku tɛm, dɔktɔ dɛn kin no di sik we dɛn bɔn am bay aw di pikin in bɔdi tan. If pɔsin na di famili dɔn gɛt dis sik bifo, dɛn kin du prɛnatal jenɛtik tɛst we i gɛt bɛlɛ.Dɔktɔ dɛn kin se dɛn fɔ tɛst fɔ si if di ABCA12 jin dɔn chenj. כlso, sכmtεm dεn kin du כltra saund skan we dεn kin du insay di sεkכn εn tכd trimεst dεm we di bεlε kin si sayn dεm fכ di kכndyushכn.

Wetin na di tritmɛnt dɛm fɔ Harlequin Ichthyosis?

As dɛn bɔn pikin we gɛt dis sik so, dɛn kin admit am na di Nionatal Intensive Care Unit (NICU) . na de, dεn kin put di pikin insay inkubayt we gɛt ay humidity fכ εp fכ kכntrכl di pikin in bכdi tεmprachכ. Na dis na aw di nɔs dɛn de kia fɔ di pikin:

• Fɔ gi pikin in bɛlɛ ɔltɛm.
• Wash yu bɔdi ɔltɛm fɔ mek di skin sof ɛn ɛp fɔ pul di skel dɛn.
• Fɔ pul di skel, sɔntɛnde yu kin rɔb am jisnɔ wit sɔntin lɛk pumice ston ɔ spɔnj we rɔf.
• Put mɔstizayza fɔ mek di skin nɔ dray ɛn fɔ mek di skin elastik.

If yu pikin gɛt siriɔs kes fɔ Harlequin Ichthyosis, yu kin trit am wit wan ɔral retinoid we dɛn kɔl etretinate . Dis mɛrɛsin de ɛp fɔ pul di tik tik skin we gɛt skel. I kin ɛp bak fɔ mek yu nɔ gɛt di sik lɛk we yu finga dɛn kin swɛla, i nɔ kin izi fɔ blo, yu chɛst kin tayt, ɛn i nɔ kin izi fɔ it. Bɔt dɛn retinoid ya we dɛn kin it kin mek yu gɛt siriɔs sayd ɛfɛkt we yu yuz am fɔ lɔng tɛm, so dɔktɔ dɛn kin jɔs yuz dɛn if yu pikin gɛt siriɔs sik dɛn.

NICU (Intensiv Keya Yunit) Keya

We yu pikin de na di neonatal intensive care unit (NICU), spɛshal dɔktɔ dɛn ɛn di wan dɛn we de wok na di nɔs dɛn kin wach yu pikin gud gud wan. Dɛn kin de wach ɔltɛm di tɛmpracha na di bɔdi, di wata we de na di bɔdi, ɛn di sayn dɛn we de sho se pɔsin gɛt di sik . Dɛn kin yuz spɛshal dresin ɛn ɔnt fɔ mek di skin wet. Sɔntɛnde, i kin nid fɔ gi di pikin tin fɔ it tru wan tiub.

Speshal drɔgs dɛn

Apat frɔm di ɔral retinoids we wi bin dɔn tɔk bɔt, yu go nid bak antibayɔtik fɔ mek yu nɔ gɛt infekshɔn, tin dɛn we de mek yu nɔ fil pen, ɛn krim fɔ mek yu nɔ dray ɛn it. Yu fɔ yuz ɔl dɛn tin ya lɛk aw yu dɔktɔ tɛl yu.

Grup fɔ tritmɛnt fɔ lɔng tɛm

Pan ɔl we yu kin kɛr yu pikin go na os afta di tik tik tik tin dɛn we de na di skin dɔn fɔdɔm, yu go stil nid fɔ kɔntinyu fɔ kia fɔ yu pikin ɛn fɔ pe atɛnshɔn to yu. Harlequin Ichthyosis nid fɔ gɛt ɛp frɔm wan tim we gɛt bɔku bɔku dɔktɔ dɛn. Dis tim kin gɛt:

• Di wan dɛn we de stɔdi bɔt nyu bɔbɔ dɛn
• Di wan dɛn we de mɛn di bɔdi
• Plastik ɔspitul dɔktɔ dɛn
• Di wan dɛn we de stɔdi bɔt di jɛnɛtiks
• Di wan dɛn we de mɛn pipul dɛn we gɛt yay
• Otolaryngologists (spɛshal wan dɛn we sabi bɔt yes, nos, ɛn trot) .
• Di wan dɛn we de mɛn pipul dɛn we gɛt bɔdi
• Ɔtopɛdist dɛn
• Di wan dɛn we sabi bɔt it

Dis mɛdikal tim de wok fɔ gi di pikin di tritmɛnt we i nid ɔl in layf.

Wetin a go ɛkspɛkt if mi pikin gɛt dis sik?

Harlequin Ichthyosis na wan sik we nɔ de mɛn, we min se i nid fɔ kia fɔ am fɔ ɔl in layf. So, i impɔtant fɔ fɛn dɔktɔ we de mɛn di bɔdi we spɛshal pan dis sik. Dis go mek shɔ se yu pikin gɛt di tritmɛnt we i nid ɔl in layf. I impɔtant bak fɔ mek yu gɛt wan rutin fɔ kia fɔ yu skin ɛvride we go ɛp fɔ kɔntrol ɛni prɔblɛm we de na yu skin (skayl, krak, it skin). Dis rutin go nid fɔ fala ɔl dɛn layf.

Apat frɔm di prɔblɛm dɛn we di pikin gɛt na in skin, di pikin in finga ɛn fut finga dɛn kin tik ɛn stif . Dis kin mek i nɔ izi fɔ am fɔ ɔndastand tin. Dɔn bak, in an ɛn in ni dɛn kin stif, ɛn dis kin mek i nɔ izi fɔ am fɔ waka. Sɔntɛm bak kin delay fɔ mek di pikin gro ɛn divɛlɔp . Bɔt, di divɛlɔpmɛnt na di maynd fɔ apin nɔmal wan.

Fɔ kia fɔ pikin lɛk dis na prɔblɛm, bɔt i rili impɔtant fɔ du sɔntin wit di rayt advays we di dɔktɔ gi yu, lɔv, ɛn peshɛnt.

Wetin na di lukin-grɔn fɔ dis sik?

Pan ɔl we dɛn dɔn go bifo pan tritmɛnt fɔ Harlequin Ichthyosis, i sɔri fɔ no se sɔm pikin dɛn stil de day bikɔs ɔf dis sik. Insay wan stɔdi, 44% pan di pikin dɛm we dɛn bɔn wit dis sik day. Di men tin dɛn we kin mek pɔsin day insay di fɔs tri mɔnt we i bin de liv na di sik we dɛn kɔl sepsis, we i nɔ ebul fɔ blo fayn, ɔ we dɛn jɔyn dɛn tu tin ya.

Bɔt dɛn dɔn sho se di tritmɛnt we dɛn kin gi kwik kwik wan wit drɔgs lɛk ɔral rɛtinoyd kin mek di rit we pɔsin kin liv go ɔp. insay di sem stכdi we wi bin dכn mεnshכn, 83% pan di pikin dεm we dεn trit wit כral rεtinoyd dεm bin liv.

Yu tink se dɛn kin ebul fɔ mek dɛn nɔ gɛt Harlequin Ichthyosis?

Dis na jɛnɛtik kɔndishɔn ɛn dɛn nɔ go ebul fɔ avɔyd am. If pɔsin na yu famili gɛt dis sik, ɔr dɔn gɛt am trade, i go fayn fɔ tɔk to dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks ɔ aw fɔ advays yu jɛnɛtiks . Da infɔmeshɔn de go ɛp wi we wi de disayd fɔ bɔn ɔda pikin.

Aw a go kia fɔ mi pikin?

If yu pikin gɛt dis sik, na sɔm tin dɛn ya fɔ ɛp fɔ kia fɔ am:

• Lan gud gud wan bɔt di sik we yu pikin gɛt. Rid sɔs dɛn we pɔsin kin abop pan ɛn tray fɔ bi pɔsin we sabi bɔt dis.
• Kip di pikin wɛl as yu ebul.Gi dɛn it we gɛt fayn fayn tin dɛn fɔ du, mek shɔ se dɛn de du ɛksɛsayz inof, ɛn kɛr dɛn go na dɔktɔ di rayt tɛm.
• Fɛn wetin go wok fɔ yu pikin. Ɔl pikin difrɛn. Wetin kin wok fɔ wan pɔsin nɔ kin wok fɔ ɔda pɔsin. Divɛlɔp wan we fɔ kia fɔ yu pikin ɛvride we go fit wetin yu pikin nid.
• Tink bɔt di say we di pikin de. di envayroment dεm we dray pasmak, kol, כ hot, εn bak ``fכs εya hεt,'' kin mek pikin in skin ivin dray εn fכ frayd. Dis kin afɛkt di pikin in ɔl wɛl bɔdi bak.
• Kip yu yon skin kia kit. Ɔltɛm kip bag wit di tin dɛn we yu pikin nid, lɛk tin fɔ protɛkt yusɛf frɔm di san, ɔntmɛnt, ɛn tin dɛn we yu kin yuz fɔ mek i nɔ fil pen.
• Gi yu pikin sɔm wok. Smɔl smɔl, yu pikin go lan aw fɔ kia fɔ in yon skin. Gi yu pikin sɔm rispɔnsibiliti fɔ in yon skin kia nid.
• We dɛn smɔl: Ɛnkɔrej fɔ kia fɔ di skin to di skin ɛn fɔ gi pikin in bɛlɛ.

Impɔtant kwɛstyɔn dɛn fɔ aks yu dɔktɔ

If yu pikin gɛt Harlequin Ichthyosis, yu kin gɛt bɔku kwɛstyɔn dɛn. Na sɔm kwɛstyɔn dɛn we yu kin aks di dɔktɔ:

• Yu tink se Harlequin Ichthyosis kin mek pɔsin fil pen?
• Wetin mek dis kin tranga pas ɔda kayn ichthyosis?
• Us tritmɛnt yu kin advays fɔ mi pikin?
• Aw a go ɛp mi pikin fɔ liv nɔmal layf?
• Wetin na di trig dɛm wae kin mek di pikin in kɔndishɔn wɔs ɛn dɛn fɔ avɔyd am?
• Yu nɔ tink se i bɛtɛ fɔ lɛ mi pikin go na do na di san?
• Us ɔda kɔmplikeshɔn ɔ wɛlbɔdi prɔblɛm dɛn a fɔ wach fɔ?
• Usay a go fɛn gud sɔpɔt nɛtwɔk?

Fɔ dɔn, mɛmba dis ! (Mɛsej we dɛn kin tek go na os)

I nɔmal fɔ fil fred ɛn shɔk we yu kam fɔ no se yu pikin gɛt wan sik we nɔ kin apin so ɔltɛm lɛk Harlequin Ichthyosis. Sɔntɛm yu kin fil se yu wangren de ɛn yu nɔ kin no wetin fɔ du. Bɔt di tin we impɔtant pas ɔl na fɔ fɛn dɔktɔ dɛn we no bɔt dis sik. Dɛn kin ɛp yu pikin fɔ kɔntrol di sik, ɛn gayd yu fɔ fɛn di ɛp ɛn sɔpɔt we yu nid.

We yu tɔk to ɔda mama ɛn papa dɛn we gɛt pikin dɛn we gɛt di sem kayn sik, dat kin mek yu gɛt bɔku trɛnk. We yu tɛl yu pikin bɔt ɛkspiriɛns ɛn advays, yu go ebul fɔ fɛn we fɔ ɛp yu pikin fɔ liv fayn layf. E nɔr izi fɔ si yu pikin de liv wit wan sik wae nɔr kin bɔrku na in skin, bɔt mɛmba, bɔrku pikin dɛn de wae de liv gladi wit dɛn kayn sik ya. Nɔto yu wan de. If yu gɛt di rayt no, sɔpɔt, ɛn lɔv, yu go ebul fɔ bia wit dis prɔblɛm.

`Harlequin Ichthyosis, jεnεtik skin sik, nyu bכn skin kכndishכn, ABCA12 jin, ichthyosis, skin barεri, nyu bכbi kεriכn, rεtinoyd dεm