Yu no bɔt ROHHAD Syndrome? Yu pikin gɛt dɛn sik ya?

Yu smɔl pikin dɔn bigin fɔ rili big wantɛm wantɛm? Ɔ yu dɔn notis se i nɔ kin izi fɔ dɛn fɔ blo we dɛn de slip? Sɔmtɛm dɛn tin ya kin bi sayn fɔ wan sik we nɔ kin apin so ɔltɛm we dɛn kɔl ROHHAD Syndrome. Lɛ wi tɔk bɔt dis smɔl smɔl, bikɔs i rili impɔtant fɔ no bɔt tin dɛn lɛk dis.

Wetin na ROHHAD Sindrom?

Fɔ tɔk am simpul wan, ROHHAD Syndrome na wan sik we nɔ kin apin so ɔltɛm, we kin mek dɛn layf de pan denja ɛn we kin afɛkt yɔŋ pikin dɛn. i kin mεntal afekt di εndokrin sistεm, כtonomik nεv sεstem, εn di brith. Pikin dɛn we gɛt dis sik kin gɛt bɔku bɔku wet insay shɔt tɛm . Dɛn kin gɛt chenj bak pan aw dɛn de blo, aw dɛn de biev, ɛn aw dɛn de fil we dɛn de slip ɛn sɔntɛnde we dɛn wek.

ROHHAD syndrome na wan nyu mɛrɛsin sik. Dɛn bin fɔs no am ɛn tɔk bɔt am insay 1965. Fɔ tink bɔt am, i nɔ rich 200 pipul dɛn we gɛt dis sik ɔlsay na di wɔl. So yu kin imajin aw i nɔ kin bɔku. Di wan dɛn we sabi bɔt mɛrɛsin stil de du risach fɔ no di rayt tin we mek i sik ɛn fɔ fɛn di mɛrɛsin we go de sote go. Naw, nɔr patikyula tɛst ɔ tritmɛnt nɔr de fɔ ROHHAD sindrom. So, dɔktɔ dɛn kin trit ɛni pikin wan bay wan bay di sayn dɛn we dɛn gɛt.

Wetin na di sayn dɛm wae de sho se yu gɛt ROHHAD syndrome?

Pikin dεm we gεt ROHHAD sεndrכm kin gεt hεlth εn dεn kin divεlכp nכmal wan bifo dεn simptom dεm sho. Pan ɔl we di sik kin apin as dɛn ol 9 ia, bɔku pikin dɛn kin sho dɛn fɔs simptom bitwin 2 ɛn 4 ia.

Di nem ‘ROHHAD’ kɔmɔt frɔm di fɔs lɛta dɛm fɔ di 4 men sayn dɛm fɔ dis sik. Lɛ wi tek wan luk pan wetin dɛn bi:

• (RO) Fat we kin bigin kwik kwik wan: Dis na we di pikin in apɛtit kin go ɔp bad bad wan wantɛm wantɛm , we kin mek i gɛt bɔku bɔku wet we kin rich 20-30 paund (9-13 kilogram) insay shɔt tɛm, bɔku tɛm bitwin tri ɛn twɛlv mɔnt. Bɔku tɛm, dis na di fɔs sayn fɔ sho se pɔsin fat. Tink bɔt am, nɔto jɔs fɔ gɛt wet, na chenj we kin apin kwik kwik wan ɛn we pɔsin kin notis.

• (H) Hypothalamic Dysregulation: di haypothalamus na wan pat pan yu bren we de kכntro di pituitary gland. I de rigul bɔku tin dɛn bak lɛk aw yu bɔdi de gro, yu wet, yu want fɔ it, we yu de bɔn pikin, aw yu de fil, ɛn aw yu de biev. So, if ɛni prɔblɛm de pan aw i de wok, di pikinDi sayn dɛm lɛk fɔ fat, fɔ shɔt, fɔ gɛt sik, fɔ mek yu nɔ gro fayn, fɔ mek yu pis pasmak ɔ fɔ mek yu nɔ pis, ɛn fɔ mek yu bɔn kwik ɔ fɔ de te . Apat frɔm dat, tin dɛn lɛk haypo tayroyd ɛn dayabitis kin apin bak.

• (H) Hypoventilation: Pikin dεm we gεt ROHHAD syndrome nכ kin kכntrכl dεn brith fayn fayn wan. Dis min se we di ɔksijɛn lɛvɛl na di blɔd go dɔŋ ɔ di kabon dayɔgzayd lɛvɛl go ɔp, di bɔdi nɔ de blo dip ɔ kwik kwik wan fɔ kɔmpɛns. Dis na tin we rili denja. Sɔntɛnde, i kin apin wantɛm wantɛm, lɛk afta yu gɛt smɔl infekshɔn na di say we yu de blo, lɛk kol, ɔ afta dɛn dɔn anestez am.

• (AD) Autonomic Dysregulation: di autonomic nervous system (ANS) na wi bכdi de kכntro di bεs wok dεm we wi nכ kin kכntrol, lεk fכ brith, fכ digεst, di at rεt, εn di tεmprachכ na di bכdi. So, pikin dεm we dεn dכn pwεl dis כtonom nεv sεstem kin gεt sכmtεm dεm lεk we dεn hat rεt we nכ sכmtεm (Bradycardia), dεn bכdi tεmprachכ lכw, εn dεn kin dכn no dεn pen . Imajin, fɔ fil smɔl pen min se ivin if i gɛt siriɔs aksidɛnt, di pikin nɔ go no bɔt am.

Wetin na de tin wae kin mek pɔrsin gɛt ROHHAD syndrome?

Infakt, dɔktɔ dɛn nɔ dɔn fɛn ɛni patikyula kɔz fɔ ROHHAD syndrome yet. Bɔt, tri men tiori dɛn de we dɛn de du risach naw we go ebul fɔ ɛksplen am.

1. Jɛnɛtiks: Bɔku pipul dɛn we de stɔdi bɔt dis biliv se ROHHAD sindrom kin kam bikɔs ɔf wan jenɛtik chenj . Bɔt dɛn nɔ no di rayt jin yet. Na di jin dɛn de kɔntrol ɔltin na wi bɔdi, so ɛni chenj we de na wi bɔdi kin afɛkt am.

2. Epigenetics: Sɔm risechar dɛm biliv se di jin dɛm we de kɔntrol sɔm wok dɛm na wi bɔdi kin on we wi nid am ɛn ɔf am we wi nɔ nid am. Dɛn kɔl dis epijɛnɛtiks. Dis aidia kɔmɔt frɔm wan stɔdi we dɛn du pan twin pikin dɛn we fiba dɛnsɛf. Insay de, wan pikin bin gɛt ROHHAD sindrom, ɛn di ɔda wan nɔ bin gɛt am. So, dεn kin tink se nכto כnli jin dεm, bכt difrεns pan di we aw dεn jin dεm de wok kin afekt dis.

3. Awtoimyuniti: Sɔm risach dɔn sho se ROHHAD sindrom na ɔtoimyun sik bak.Wan link dɔn de bitwin ɔtoimyun sik dɛm, we di bɔdi in yon imyun sistɛm kin atak in yon sɛl dɛm. Insay wan stɔdi, dɛn bin kam fɔ no se tu pikin dɛn we gɛt ROHHAD sindrom gɛt antibodi dɛn we dɛn kɔl immunoglobulins in di cerebrospinal fluid (CSF) , we na di wata we de rawnd di bren ɛn spɛshal kɔd. We di wan dɛn we du di risach yuz dis infɔmeshɔn, dɛn kam fɔ no se inflamɛns de na di sɛntral nɛvɔ sistɛm (CNS) , di bren ɛn di spɛnal kɔd. Dis min se di bɔdi in yon imyun sistɛm bin de mistek atak di bren.

Wetin na di kɔmplikɛshɔn dɛm wae de kam wit ROHHAD syndrome?

Apat frɔm di men sayn dɛm wae wi bin dɔn tɔk bɔt, pikin dɛm wae gɛt ROHHAD syndrome kin gɛt ɔda kɔmplikɛshɔn dɛm , dat na, ɔda wɛl bɔdi prɔblɛm dɛm. I impɔtant fɔ no bɔt dɛn tin ya bak:

• Prɔblɛm dɛn na dɛn maynd ɛn aw dɛn de biev: Dɛn pikin ya kin gɛt tin dɛn lɛk we dɛn nɔ kin rɛst, dɛn kin fɛt, dɛn kin taya pasmak, dɛn kin taya ɔltɛm, dɛn kin wɔri, dɛn at pwɛl, ɛn dɛn kin gɛt prɔblɛm wit dɛn maynd . Dɛn tin ya kin afɛkt di pikin in ɛvride layf ɛn bak di famili.

• Prɔblɛm dɛn na dɛn nervɔs sistɛm: Pikin dɛn we gɛt ROHHAD sindrom kin gɛt tin dɛn lɛk we dɛn kin gɛt sik dɛn lɛk we dɛn kin gɛt sik we dɛn kɔl swɛt, we dɛn kin muv di yay we nɔ kin fayn (nystagmus), we dɛn nɔ kin ebul fɔ slip, ɔ we dɛn nɔ kin ebul fɔ du wɛl .

• di mεtabolik dizכrd dεm: Di mεtabolik dizכrd dεm we kin kכmכn pan dεn pikin ya na Dayabitis, Insulin rεsistεns, Impaired glucose intolerance, εn Steatotic (fatty) liver disease. Dis na tin dɛm wae kin gɛt lɔng tɛm wɛl bɔdi prɔblɛm.

• Nyural tכmכro dεm: bitwin 40% εn 56% pan di pikin dεm we gεt ROHHAD sεndrכm de divεlכp tכmכro dεm na di nεv dεm. Wan ɛgzampul na wan kayn tumbu we dɛn kɔl ganglioneuroma . Bɔku pan dɛn tumbu ya nɔ kin fayn , bɔt sɔntɛnde dɛn kin bi bad bad tin . So, dɔktɔ dɛn kin de wach dis ɔltɛm.

• Cardiorespiratory arrest: Dis na di kɔmplikeshɔn we denja pas ɔl. Na we yu nɔ de blo wantɛm wantɛm ɛn yu at de du tin. Dis kin mek pɔsin in layf de pan denja.

Aw dɛn kin no se pɔsin gɛt ROHHAD sindrom? (Diagnosis) .

Naw, dɛn kɔl ROHHAD sindromNɔr wan tɛst nɔr de wae kin definitivli kɔnfɔm di diagnosis. Bifo dat, wan tim we sabi bɔt mɛrɛsin kin wok togɛda fɔ no if di pikin gɛt di sem kayn sik . I tan lɛk ditektiv, we de gɛda pruf ɛn kam to wan kɔnklushɔn.

Fɔ mek dɛn no se di pikin gɛt ROHHAD sindrom, i fɔ mit dɛn tin ya:

• Ɔl tu di sayn dɛm we de sho se pɔsin fat wantɛm wantɛm ɛn we pɔsin nɔ gɛt bɛtɛ ventilashɔn we i de slip fɔ de.
• di simptom dεm fכ di haypothalamic dysfunction (e.g., we yu de gεt di wet kwik kwik wan, haypothayroydism, כ chenj dεm na di puberty - ali כ let) fכ de.
• i imכtant fכ kכnfכm se nכ mכtεshכn (jin vεryכnt) de insay di jin `PHOX2B`. dis imכtant fכ difrεnt am frכm `CCHS (Congenital Central Hypoventilation Syndrome),` כda kכndyushכn we gεt sכm simptom dεm we sכm lεk ROHHAD syndrome (e.g., di brith we de dכn we yu de slip).
• Dɛn sayn ya nɔr kin si pan de fɔs sɔm ia wae pɔrsin de liv. Bɔku tɛm, dɛn kin bigin leta.

Bikɔs ROHHAD sindrom na wan sik we nɔ kin apin so ɔltɛm, bɔku tɛm dɛn kin mistek no se pikin dɛn gɛt am fɔs. So, if yu gɛt dɛn sik ya, i rili impɔtant fɔ mek yu aks fɔ di rayt advays frɔm dɔktɔ we gɛt ɛkspiriɛns.

Aw dɛn kin trit ROHHAD sindrom? (Tritmɛnt)

Di tritmɛnt fɔ ROHHAD sindrom kin difrɛn frɔm wan pikin to ɔda pikin, i kin dipen pan di sayn dɛm. Nɔto ɔl pikin dɛn kin gi di sem tritmɛnt plan, bikɔs ɔlman in sityueshɔn difrɛn. Bɔt, wan tin na kɔmɔn tin fɔ ɔlman. If pikin we gɛt ROHHAD sindrom sho se i nɔ de blo fayn we i de slip, dɛn go nid fɔ yuz mashin we dɛn kɔl `CPAP` ɔ `BiPAP` fɔ ɛp dɛn fɔ blo. as tεm de go, dεn kin nid fכ yuz `ventilator` fכ fulכp sכpכt di brith prכsεs. Dis na we fɔ sev pipul dɛn layf.

We dɛn de trit pikin dɛn we gɛt ROHHAD sindrom, dɛn nid fɔ ɛp pikin dɛn we de du difrɛn tin dɛn. Fɔ ɛgzampul:

• Di wan dɛn we de stɔdi bɔt di pulmon
• Di wan dɛn we de stɔdi bɔt nyurolɔji
• Endocrinologists (dכkta dεm we spεshal pan εndokrin gland dεm (hכmon)) .
• Otolaryngologists (Iya, Nos, Trot Spɛshal pipul dɛn) .
• Di wan dɛn we de mɛn di at
• Spɛshal pipul dɛn we sabi bɔt slip
• Di wan dɛn we sabi bɔt it
• Di wan dɛn we de stɔdi bɔt kansa
• Sayɛnsman dɛn we de stɔdi bɔt pɔsin in maynd
• Di wan dɛn we de mɛn pipul dɛn we gɛt sayɛns

Na tru di wanwɔd we ɔl dɛn pipul ya gɛt, wi de tray fɔ gi di pikin di bɛst tritmɛnt.

Wetin na di fiuja fɔ pikin dɛm wae gɛt ROHHAD syndrome? (Autluk) .

Infakt, naw, no mɛrɛsin nɔ de fɔ mɛn di sik we dɛn kɔl ROHHAD syndrome. Di men gol fɔ tritmɛnt na fɔ kɔntrol di sik dɛn we de sho se ɛni pikin kin gɛt di sem kayn sik ɛn fɔ mek di pikin gɛt kwaliti layf di bɛst we aw i pɔsibul.

ROHHAD Sindrom ɛn Layf Ɛkspɛktɛns

Bikɔs ROHHAD sindrom na dis kayn tin we nɔ kin apin so ɔltɛm, i nɔ kin izi fɔ no di rayt we aw pɔsin kin liv. Nɔto inof data de pan am yet.

Bɔt di men tin we kin mek pɔsin day bikɔs ɔf dis sik na wan prɔblɛm we dɛn kɔl di at ɛn di we aw pɔsin de blo kin stɔp fɔ wok wantɛm wantɛm .

Yu tink se dɛn go ebul fɔ stɔp dis? (Prɛvenshɔn) .

Naw, no we nɔ de fɔ mek dɛn nɔ gɛt ROHHAD sindrom - at ɔl nɔto yet.

ROHHAD syndrome na wan sik wae nɔr kin bɔrku ɛn na nyu wan. So risach fɔ dis sik stil de na in fɔs stej. We yu tink bɔt yu pikin in wɛlbɔdi, ɛvride we de pas we yu nɔ gɛt ansa kin fil lɛk se yu go de sote go. Wi ɔndastand dat. So, mek shɔ se yu aks fɔ sɔpɔt frɔm yu dɔktɔ. I go ebul fɔ advays yu bɔt di tritmɛnt dɛm wae yu nid fɔ mɛn yu pikin in sik, ɛn bak usay yu go gɛt infɔmeshɔn bɔt dis sik.

Di impɔtant tin dɛn we wi fɔ kɛr go na os frɔm dis stori (Take-Home Message)

Okay, so naw yu gɛt sɔm ɔndastandin bɔt di ROHHAD Syndrome we wi bin tɔk bɔt. Na sɔm impɔtant tin dɛn we yu fɔ mɛmba:

• ROHHAD syndrome na wan sik wae nɔr kin bɔrku, bɔt wae kin siriɔs.
• Di men sayn dɛm na we yu de gɛt bɔku bɔku wet wantɛm wantɛm, i nɔ kin izi fɔ blo, ɛn i kin gɛt prɔblɛm wit di ɔmon ɛn di ɔtonomik nɛvɔ sistɛm.
• Nɔr patikyula kɔz ɔr pɔrmɛnt mɛrɛsin nɔr de fɔ dis yet. Dɛn kin trit am bay di sayn dɛm wae de kam.
• If yu tink se yu pikin gɛt dɛn sik ya, nɔ panik, bɔt go to dɔktɔ we sabi du di wok wantɛm wantɛm fɔ advays.
• Bikɔs dis na sik we nɔ kin apin so ɔltɛm, i kin tek sɔm tɛm fɔ mek dɛn no di sik kɔrɛkt wan. Bɔt nɔ giv ɔp.
• I rili impɔtant fɔ fala di dɔktɔ dɛn advays ɛn gi di pikin di sɔpɔt we i nid.

Mɛmba se nɔto yu wangren de. I impɔtant fɔ aks fɔ sɔpɔt frɔm dɔktɔ, famili, ɛn if nid de, advays savis we yu de dil wit tin dɛn lɛk dis.

` ROHHAD Sindrom, ROHHAD Sindrom, Pikin dɛn sik, Fat wantɛm wantɛm, I nɔ izi fɔ blo, Haypothalamus, Sik dɛn we nɔ kin bɔku