Yu pikin nɔ de blo fayn? Lɛ wi lan bɔt di Kɔngenital Sɛntral Haypoventileshɔn Sindrom (CCHS)!

Sɔntɛnde, mama ɛn papa dɛn kin wɔri smɔl we dɛn si smɔl chenj dɛn na di we aw dɛn pikin dɛn de blo, nɔto so? I nɔmal fɔ fil smɔl frayd, mɔ if i tan lɛk se yu pikin de swɛla ɔ i de blo bad bad wan we dɛn de slip. Tide, wi go tɔk bɔt wan rare kɔndishɔn we ɔlman fɔ no bɔt. Dɔktɔ dɛn kin kɔl dis `Congenital Central Hypoventilation Syndrome`, ɔ wi go kɔl am `(CCHS)` fɔ shɔt tɛm.

Wetin na CCHS? Lɛ wi ɔndastand am gud gud wan.

Fɔ tɔk am simpul wan, `(CCHS)` na wan sik we nɔ kin apin we dɛn bɔn pikin ɛn i kin afɛkt di ɔda pat na di bɔdi. Di men tin na dat di bɔdi nɔ de blo dip dip wan, ɔ di rit we pɔsin de blo kin go dɔŋ. Dis sik kin tranga mɔ we yu de slip. Dɔktɔ dɛn kin kɔl dis `(Hypoventilation)` (haypoventilation). Imajin se we wi de blo nɔmal wan, wi lɔng dɛn kin blo ɛn kɔntrakt fɔ tek ɔksijɛn ɛn pul di kabon dayɔgzayd. bכt pan pכsin we gεt `(CCHS)`, dis brith prכsεs, spεshal wan di brith we di bכdi nכmal wan de kכntro, nכ de apin fayn fayn wan. Dis kin mek di ɔksijɛn we de na di blɔd go dɔŋ ɛn di kabon dayɔgzayd kin go ɔp we nɔ nid fɔ apin. Dis kin afɛkt bɔku sistɛm dɛn na di bɔdi.

dis `(CCHS)` kכndishכn de afekt wi b כdi in כtonom nεv sεstem `(Autonomic Nervous System)` . Naw yu kin de wɔnda wetin na dis ɔtonomik nervɔs sistɛm. Imajin, wen wi de draiv motoka, wi de du tins laik chenj `gia` and `brek` consciously. Bɔt sɔm tin dɛn na wi bɔdi kin apin ɔtomɛtik wan, ɛn wi nɔ kin ivin tink bɔt dɛn. Lεk fכ brith (wi lכng dεm de wok ivin we wi de slip!), fכ digεst it, bit wi at, kכntrכl wi bכdi tεmprachכ, swet, εn di kכntriksh כn fכ di ayris we layt hit wi yay. כl dεn tin ya na di כtonom nεv sεstem de kכntro dεm. We wi gɛt `(CCHS)`, dɛn ɔtomɛtik, impɔtant prɔses ya kin afɛkt. So, apat frɔm we yu de blo, prɔblɛm kin apin bak pan tin dɛn lɛk:

• Fɔ kɔntrol blɔd prɛshɔn.
• Di wok we di bɔdi de du.
• At rit we yu de bit.
• Kɔntrol di tɛmpracha na di bɔdi.

Dis kכndyushכn dεn kכl am ``(CCHS)`` bay sεvεra כda nem dεm. Yu dɔktɔ kin yuz wan pan dɛn nem ya bak, so i go fayn fɔ mek yu no bɔt dɛn:

• ``Kɔnjɛnital Sɛntral Haypoventilashɔn''.
• ``Konjenital Fεil כf כtכnomik Kכntrכl''.
• ``Kכnjenital Fεil fכ Rεspiretכri Drayv''.
• `Haddad Sindrom`
• Sɔntɛnde dɛn kin kɔl am bak `Ondine Syndrome`, `Ondine-Hirschsprung Disease`, ɔ `Ondine's Curse`.

Aw CCHS kɔmɔn?

Fɔ tru, CCHS na wan sik we nɔ kin apin so ɔltɛm.Imajin, na smɔl nɔmba pan di wan dɛn we gɛt di sik, we na lɛk 1000 to 1200, dɛn dɔn no ɔlsay na di wɔl. Bɔt sayɛnsman dɛn biliv se sɔm tɛm, bikɔs ɔf di `(CCHS)` kɔndishɔn dɛn we dɛn nɔ no, dɛn kin sɔprayz se sɔm pan di pikin dɛn we kin day wantɛm wantɛm, dat na, `Sudden Infant Death Syndrome (SIDS),` kin apin. Dat min se, pan ɔl we i kin bi `(SIDS)`, di ɔndalayn kɔz kin bi bak `(CCHS)`. So, i rili impɔtant fɔ mek wi no bɔt dis.

Wetin na di sayn dɛm fɔ CCHS? Aw yu no am?

Di fכs sayn dεm fכ CCHS kin apin we dεn bכn am כ insay di fכs mכnt dεm we i de liv. Dis na de men sayn wae yu kin si:

• Blu di kɔlɔ we di lip ɔ di skin kin chenj (Cyanosis): Dis kin tan lɛk we ɔksijɛn nɔ de. Dis kin notis mɔ we di pikin de slip.
• I nɔ de blo ɔltɛm we yu de slip (Hypoventilation): We yu de blo kin fil rili shalo ɔ yu kin fil kwik kwik wan. Sɔntɛnde, i kin ivin tan lɛk se i kin stɔp fɔ blo fɔ sɔm tɛm.

Impɔtant: If yu notis dɛn sayn ya, yu fɔ go to dɔktɔ ɛn nɔ de te.

Bɔt sɔmtɛm, if de sik nɔr so bad, dɛn sayn ya kin kam leta na layf. Ɔ, ɔda sayn dɛn kin kam. Chek fɔ si if yu pikin gɛt ɛni wan pan dɛn tin ya:

• di yay abnכmaliti: fכ egzampl, di we aw di ayris de ansa layt εn sawnd kin dכn, di yay kin kכros (strabismus), כ di we aw yu de si fa kin chenj (altered dip perception).
• Rid pen: Ivin smɔl injuri kin mek yu nɔ fil pen.
• di hכmon we de gro: di pikin kin gro slo pas כda pikin dεm.
• Jɔs de swet bɔku bɔku wan fɔ natin.
• Gastrointestinal (GI) issues: Riflɔks, kɔnstipɛshɔn bɔku tɛm, ɛn sɔm tɛm dɛn kin stɔp smɔl bɔdi ɔ big bɔdi kin ambɔg. Yu kin si Hirschsprung in sik (CCHS) bak wit CCHS.
• Lɔw Bɔdi Tɛmpratura: Di bɔdi kin fil kol ɔltɛm.
• Prɔblɛm dɛn na di nervɔs sistɛm: Tin dɛn lɛk disabiliti fɔ lan.
• I nɔ kin izi fɔ kɔntrol di at rit ɛn blɔd prɛshɔn.

Wetin mek dis CCHS kin apin? Wetin na di kɔz?

Okay, naw lɛ wi si wetin mek dis kɔndishɔn we dɛn kɔl `(CCHS)` de apin. Di men rizin fɔ dis na we wan pan wi jin dɛn chenj. dis jin dεn kכl am `PHOX2B` (Fox-2-B) jin.dis `PHOX2B` jin rili imכtant fכ prodyuz wan protin we de εp di nεv sεl dεm, spεshal wan dεn sεl dεm na di כtonom nεv sistεm we wi bin tכk bכt fכ divεlכp fayn fayn wan we dεn de divεlכp insay di bεlε as pikin.

fכ mכst pipul dεm we gεt CCHS, dis jin mכtεshכn na nyu, sporadik mכtεshכn. dis min se di mכtεshכn nכ de kכmכt frכm di mama כ di papa, bכt na nyu chenj na di pikin in bכdi. Bɔt pan smɔl smɔl kes dɛm, i kin pas frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn. Dis min se wan pan di mama ɛn papa gɛt dis jin muteshon ɛn di pikin kin dɔn gɛt am.

Aw yu go no fɔ tru if yu gɛt CCHS? (Diagnosis) .

di onli εn mכst difinitiv we fכ kכnfכm if yu gεt CCHS na fכ du jεnεtik tεst fכ si if mכtεshכn de na di PHOX2B jin. Dis na di onli we we dɔktɔ dɛn kin shɔ 100% if yu gɛt di sik ɔ yu nɔ gɛt am.

Bɔt dɔktɔ dɛn kin du bɔku ɔda tɛst dɛn fɔ no aw di sik kin afɛkt di bɔdi ɛn fɔ no wetin mek di sik de. Fɔ ɛgzampul:

• Blɔd Tɛst: Chɛk tin dɛn lɛk ɔksijɛn ɛn kabon dayɔgzayd lɛvɛl na di bɔdi.
• If yu gɛt sayn dɛn we de sho se yu gɛt prɔblɛm wit yu digest, mek dɛn chɛk dɛn wit kɔlon skɔpi , sɔntɛm wit bayɔpsi .
• wan `Echocardiogram` fכ chεk aw di at de wok.
• imej tεst dεm lεk εks-ray, CT skan, כ MRI fכ luk insay di chεst εn bεlε fכ si if εnitin de we de ambɔg.
• Ophthalmologic Test fɔ chɛk di kɔndishɔn na di yay.
• Stɔdi fɔ Slip : Dis na tɛst we rili impɔtant. insay dis, dεn kin put di pikin fכ slip na spεshal rum na כspitul εn dεn kin mכnitor difrεn tin dεm lεk aw i de brith, aw in at de bit, εn di כksijεn lεvεl dεm wit mashin dεm.

Yu tink se CCHS kin wɛl ɔltogɛda?

Wan kwɛshɔn we bɔku pipul dɛn kin aks ɛn wej na dɛn maynd na if `(CCHS)` kin wɛl kɔmplit wan. Fɔ tɔk tru, naw, no patikyula mɛrɛsin nɔ de fɔ `CCHS`. Na tin we pɔsin kin gɛt fɔ ɔl in layf. Bɔt, nɔ wɔri. Di tritmɛnt dɛn de fɔ kɔntrol di sayn dɛm, fɔ mek di prɔblɛm nɔ bɔku, ɛn fɔ ɛp di pɔsin fɔ liv sef, kɔmfyut, ɛn as fayn as i pɔsibul.

Wetin na di tritmɛnt fɔ pɔsin we gɛt CCHS?

Bɔrku pipul dɛm wae gɛt CCHS nid fɔ gɛt sɔpɔt fɔ ventilatory fɔ ɔl dɛn layf.I nid fɔ de. Dɛn kɔl dis wan `Ventilator`. Sɔm pipul dɛn nid am ɔl di de, ɔltɛm. Bɔt ɔda pipul dɛn jɔs nid am we dɛn de slip. wetin dis `(Ventilator)` de du na fכ εp di bכdi fכ brith insay wan sכm ritm, as nid de. Dis kin mek di ɔksijɛn lɛvɛl na di blɔd rayt ɛn stɔp di kabon dayɔgzayd lɛvɛl fɔ mek i nɔ go ɔp.

Apat frɔm dat, ɔda tritmɛnt dɛn de we go ɛp wi. Dɛn tritmɛnt ya kin difrɛn difrɛn wan bay di sayn dɛm fɔ ɛnibɔdi:

• Dɛn kin kɔrɛkt di prɔblɛm dɛn we pɔsin kin si wit glas, kɔntakt lens, ɔ ivin ɔpreshɔn. Dɛn tin ya kin ɛp bak fɔ protɛkt di yay frɔm layt we pasmak.
• Growth Hormone Therapy (GHT) fɔ mek yu nɔ gro fayn.
• Mεdikeshכn dεm fכ rεliv di dijestiv sistεm simptom dεm (e.g., `Rεfluks`, `Kכnstipεshכn`).
• Kɔntrol blɔd prɛshɔn ɛn at rit wit mɛrɛsin ɔ ɔda mɛrɛsin dɛn .
• Dɛn kin du skreynin tɛst ɔltɛm fɔ no ɔda wɛlbɔdi prɔblɛm dɛn we gɛt fɔ du wit am kwik kwik wan.

Dis tritmɛnt prɔses kin nid fɔ gɛt sɔpɔt frɔm difrɛn spɛshal pipul dɛn . Imajin, spɛshal dɔktɔ de we rayt fɔ ɛnibɔdi in prɔblɛm. I rili impɔtant fɔ mek difrɛn spɛshal pipul dɛn lɛk dis kam togɛda ɛn trit lɛk tim. Bikɔs `(CCHS)` nɔto sɔntin we de afɛkt wan pat nɔmɔ na di bɔdi. So we ɛnibɔdi yuz in sɛns fɔ sɔlv di pikin in difrɛn prɔblɛm dɛn, di kia we dɛn de kia fɔ di pikin kin kɔmplit mɔ. Fɔ ɛgzampul:

• Di dɔktɔ dɛn we de mɛn pipul dɛn we gɛt at sik.
• Na di wan dɛn we sabi bɔt ENT kin trit di prɔblɛm dɛn we gɛt fɔ du wit di yes, nos, ɛn trot .
• Ɛndokrinɔlɔjis dɛn na spɛshal pipul dɛn we sabi bɔt ɛndokrin gland fɔ prɔblɛm dɛn we gɛt fɔ du wit ɔmon.
• Gastroenterologist dεm na spεshal pipul dεm pan gεstrointestinal sik dεm fכ prכblεm dεm na di dijestiv sistεm.
• Nyurolɔjis dɛn na pipul dɛn we sabi bɔt di tin dɛn we di bren kin du ɛn di tin dɛn we pɔsin kin lan.
• Ɔftalmolɔg dɛn kin trit di sik dɛn we gɛt fɔ du wit di yay.
• Praymari kia dɔktɔ dɛn (lɛk pikin dɛn).
• Pulmonologist dɛn na spɛshal pipul dɛn we gɛt prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin de blo .
• Di Wan dɛn we De Tɔk ɛn Langwej Pathɔlɔjis.
• Sɔshial Wokman dɛn (gi di famili di saykolojik ɛn soshal sɔpɔt we dɛn nid).

I gɛt we fɔ mek dɛn nɔ gɛt CCHS?

Bɔku tɛm we wi de tɔk bɔt wan sik, wi kin tɔk bak bɔt aw fɔ protɛkt wisɛf frɔm am. Bɔt pan di kes fɔ `(CCHS)`, dɛn nɔ fɛn ɛni we we dɛn dɔn pruv fɔ mek i nɔ apin.biכs i mεnli kכz fכ wan jεnεtik kכz (wan mכtεshכn na di `PHOX2B` jin), i kכmplikt sכm fכ prεvεnt. Bɔt if pɔsin na di famili gɛt `(CCHS)`, i fayn fɔ tɔk to dɔktɔ bɔt jenɛtik kɔyl ɛn tɛst fɔ ɔda pipul dɛn bak.

Aw layf go tan lɛk wit CCHS? Impɔtant tin dɛn fɔ no

Di layf we pɔsin kin liv ɛn di disabled we pɔsin kin gɛt kin difrɛn bad bad wan. I kin dipen pan tin dɛm lɛk aw di sik kin tranga, di tɛm we i kin tek fɔ bigin tritmɛnt, ɛn aw di tritmɛnt go wok fayn .

Bɔt if dɛn no di sik kwik kwik wan ɛn trit dɛn fayn ɛn ɔltɛm , pipul dɛn we gɛt mild CCHS kin liv saksesful, prodaktiv, ɛn gladi layf. Dɛn kin go skul, ple, ɛn ivin wok we dɛn big. Bɔt if di sik rili bad, ɔ if dɛn nɔ gi am di tritmɛnt fayn ɔ i de te, i pɔsibul fɔ mek pipul dɛn gɛt bɔku prɔblɛm dɛn, dɛn gɛt wɛlbɔdi prɔblɛm, ɛn dɛn nɔ go ebul fɔ liv dɛn layf shɔt. So , fɔ no di sik di rayt tɛm ɛn fɔ trit am ɔltɛm rili impɔtant.

Dis rili impɔtant fɔ mɛmba: Pipul dɛn we gɛt CCHS kin gɛt sɔm kayn nervous system tumor. So, i impɔtant fɔ mek dɛn de chɛk yu ɔltɛm fɔ dɛn kayn tɔŋ ya. Di kwik we dɛn kin no dɛn, na di mɔ i kin izi fɔ trit. Yu fɔ tek tɛm mɔ bɔt dɛn kayn tumbu ya:

• Nyuroblastoma we dɛn kɔl Nyuroblastoma
• Ganglioneuroblastoma we gɛt di sik
• `Ganglioneuroma`

So, nɔ fɔgɛt fɔ kɔntinyu fɔ du skrinin tɛst lɛk aw di dɔktɔ tɛl yu fɔ du.

Impɔtant kwɛstyɔn dɛn fɔ aks yu dɔktɔ bɔt CCHS

If yu ɔ sɔmbɔdi na yu famili gɛt CCHS, mek shɔ se yu aks yu dɔktɔ dɛn kwɛstyɔn ya. Dɛn tin ya go ɛp yu fɔ ɔndastand de sik ɛn plan fɔ du di nɛks tin dɛn we yu fɔ du:

• "Aw siriɔs mi/mi pikin in `(CCHS)'?"
• "Us bɔdi sistɛm (e.g., brith, at, intestin) we mi/mi pikin in `(CCHS)` kɔndishɔn kin afɛkt?"
• "Us kayn spɛshal pipul a/wi nid fɔ si? Aw ɔltɛm a fɔ si dɛn?"
• "Mi/mi pikin nid `Ventilator`? If na so, a fɔ yuz am ɔltɛm, ɔ na we a de slip nɔmɔ?"
• "Aw ɔltɛm a fɔ gɛt tɛst fɔ wach mi yay, at, lɔng, dijestiv sistɛm, ɛn ɔda bɔdi sistɛm dɛn?"
• "Aw often a nid fo du screening fo dem tumors we a bin tok abaut?"
• "I fayn fɔ mek di ɔda pipul dɛn na mi famili (e.g. brɔda ɛn sista dɛn, mama ɛn papa dɛn) gɛt jenɛtik tɛst?"

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

Pan ɔl we CCHS na sɔm kayn sik we de mek yu fred ɛn nɔ kin apin so ɔltɛm, yu kin kɔntrol am if dɛn tɛl yu fayn fayn wan ɛn bigin fɔ trit yu di rayt tɛm. Di men tin na fɔ go to dɔktɔ wantɛm wantɛm we yu notis di sayn dɛm, mɔ if yu notis ɛnitin we nɔ kɔmɔn na yu smɔl pikin in briz, lɛk saynosis. Di tin we impɔtant pas ɔl na fɔ nɔ panik, bɔt fɔ du sɔntin we yu nɔ de te.

Fɔ liv wit dis kɔndishɔn kin tranga fɔ famili, na tru. Bɔt mɛmba se nɔto yu wangren de. Dɔktɔ, nɔs, tritmɛnt pipul, ɛn ɔda pipul dɛn we de wok fɔ di wɛlbɔdi biznɛs de fɔ ɛp ɛn gayd yu ɛn yu pikin. If yu gɛt di rayt mɛdikal manejmɛnt, yu lɛk fɔ kia fɔ yu famili, ɛn yu gɛt fayn abit, pikin we gɛt CCHS kin liv gladi, nɔmal layf as i pɔsibul. Nɔ fred fɔ aks kwɛstyɔn, fɛn infɔmeshɔn, ɛn gi yu pikin wetin bɛtɛ fɔ am.

` CCHS, Congenital Central Hypoventilation Syndrome, congenital respiratory distress syndrome, awtonomik nεv sεstem, PHOX2B jin, rεspiretכri sכpכt, bεlε in hεlth, saynosis, jεnεtik tεst