Yu de notis se yu pikin in fes ɔ in yes chenj? Yu tink se na di sik we dɛn kɔl Goldenhar Syndrome?

We wi luk pikin we dɛn jɔs bɔn, wi kin rili gladi ɛn lɛk wi, nɔto so? Bɔt tink bɔt am, sɔntɛnde, pan ɔl we i nɔ kin apin so ɔltɛm, sɔm pikin dɛn kin kam na dis wɔl wit smɔl smɔl difrɛns dɛn we kin de frɔm we dɛn bɔn dɛn. Na so, mɔ na di fes, yes, yay, ɔ spayna, wan sik we wi go tɔk bɔt tide dɛn kɔl am Goldenhar Syndrome. Nɔ fred we yu yɛri dis nem, wi go tɔk bɔt ɔltin na simpul we we yu go ɔndastand.

Wetin na di sik we dɛn kɔl Goldenhar Syndrome?

Fɔ tɔk am simpul wan, Goldenhar Syndrome na wan sik we nɔ kin apin so ɔltɛm, we dɛn bɔn wit . "Congenital" min se di kכndyushכn de we dεn bכn am. Dɛn kin klas am as kraniofacial kɔndishɔn. Dis min se i kin mek yu pikin in fes ɔ in ed shep ɔ di divɛlɔpmɛnt nɔ fayn. Mɔtalman, Goldenhar Syndrome kin afɛkt yu pikin in spayna, yes, ɛn yay.

Bɔrku tɛm, pipul dɛm wae gɛt Goldenhar Syndrome nɔr kin gɛt bon ɛn mɔsul dɛm na wan say na dɛn fes (dɛn kin kɔl am bak hemifacial microsomia). Sɔntɛnde, ɔl tu di say dɛn kin afɛkt. Sɔm pikin dɛn kin gɛt bak dɛn lip we kin skata ɔ dɛn palata kin skata.

Dɛn gi am di nem Goldenhar fɔ ɔnɔ di risachman we bin fɔs fɛn dis sik insay 1952, we nem Mɔris Goldenhar. כda mεdikal nem fכ am na "oculo-auriculo-vertebral dysplasia." Di nem soun likl long, no bi so? Mek wi brok am, nɔto so?

• Oculo min fɔ gɛt sɔntin fɔ du wit di yay.
• Auriculo min fɔ gɛt sɔntin fɔ du wit di yes.
• Vεrbral de tכk bכt di spayna.
• Displasia na we wan pat na di bɔdi nɔ de gro fayn.

Naw yu ɔndastand wetin dis nem min, nɔto so?

Aw kɔmɔn tin dis kin apin?

Goldenhar Syndrome na rili wan sik we nɔ kin apin so ɔltɛm . Masta sabi bukman dɛn se i kin afɛkt lɛk wan pan ɛvri 3,500 to 25,000 pikin dɛn we dɛn jɔs bɔn. Dɛn kin tɔk bak se i kin bɔku smɔl pan bɔy pikin dɛn pas gyal pikin dɛn.

Wetin na de tin wae kin mek pɔrsin gɛt Goldenhar Syndrome?

Di kweshon we plenti pipul get na "Wetin mek dis de hapun?" Fɔ tɔk tru, masta sabi bukman dɛn stil nɔ dɔn fɛnɔt am .Wi nɔ no di rayt tin we kin mek pɔsin gɛt Goldenhar Syndrome. Dɛn biliv se na di chenj we de na wan kromozom kin mek i apin, bɔt nɔto ɔltɛm di tin we kin mek i apin kin klia. insay wan rili sכm pasεnshכn, lεk 1% - 2% pan di kes dεm, di kכndyushכn kin kכmכt frכm wan כ di tu mama εn papa.

Sɔm risach dɔn sho se di risk fɔ mek di pikin gɛt Goldenhar Syndrome kin go ɔp smɔl if di mama gɛt sɔm sik dɛn ɔ yuz sɔm mɛrɛsin dɛn we i gɛt bɛlɛ. Fɔ ɛgzampul:

• Dayabitis we pɔsin kin gɛt we i gɛt bɛlɛ.
• Sɔm mɛrɛsin dɛn we dɛn kin yuz fɔ akni, mɔ di wan dɛn we gɛt retinoic acid, lɛk isotretinoin (Accutane®).

So, if yu gɛt bɛlɛ, i rili impɔtant fɔ fala yu dɔktɔ in instrɔkshɔn dɛn di rayt we.

Wetin na di sayn dɛm fɔ dis?

De sayn dɛm fɔ Goldenhar Syndrome kin difrɛn frɔm pɔrsin to ɔda pɔrsin. Bɔt wan pan di tin dɛn we kin apin to pɔsin na we wan say na di fes nɔ kin gro fayn . dis dεn kכl am bak `hεmifacial microsomia`, lεk aw wi bin se. Dis kin mek di jaw, di chɛst, ɛn di yay dɛn na wan say na di fes smɔl ɛn nɔ de divɛlɔp bɛtɛ pas di ɔda say. Fɔ ɛgzampul, wan chɛst kin flat pas di ɔda wan, ɔ di chin kin smɔl na wan say.

Ɔda tin dɛn we pɔsin kin si na:

• Iya abnɔmaliti: Sɔm pipul kin gɛt wan yes we nɔrmal smɔl (dɛn kɔl am `microtia`). כda wan dεm kin gεt wan yes we nכ de kכmplit (dεn kכl am `anotia`). Dis kin mek yu nɔ de yɛri fayn.
• I kin afɛkt ɔl tu di say dɛm na di fes: Na lɛk wan pat pan tri pikin dɛm wae gɛt Goldenhar Syndrome kin gɛt dis stɔp fɔ gro na ɔl tu di say dɛm na di fes.
• Prɔblɛm wit ɔda ɔgan dɛm: Prɔblɛm kin apin bak wit di kidni, at, lכng, ɔ bon dεm na di spayna (vεrbra).
• Intɛlektual disabiliti: Na lɛk 15% pan pipul dɛn kin gɛt sɔm lɛvul fɔ intɛlektual disabiliti. Dis min se i nɔ kin izi fɔ lan, i nɔ kin ebul fɔ ɔndastand, ɛn ɔda tin dɛn.

Apat frɔm dis, yu kin si ɔda sayn dɛm:

• Fɔ gɛt klip lip ɔ klef palata.
• Di at prɔblɛm dɛn we dɛn bɔn wit.
• Sɔntɛnde, 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 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.
• I nɔ de yɛri fayn igen.
• di wata we de kכmכt insay di sכkul (Hydrocephalus).
• Obstruktiv slip apnɛa.
• di aylid ɔ ɔda tisu na di yay we de lɔs (coloboma) ɛn we kin mek i nɔ de si fayn.
• Skɔliosis we de mek pɔsin gɛt sik.
• I nɔ izi fɔ tɔk.
• Krɔs yay (`Strabismus`).

Mɛmba se nɔto ɔlman go gɛt ɔl dɛn sik ya. Sɔm pipul dɛn kin jɔs gɛt sɔm pan dɛn, ɛn di kayn we aw dɛn kin tranga kin difrɛn.

Aw yu go no if yu gɛt Goldenhar Syndrome?

Bɔku tɛm, dɔktɔ dɛn kin no di sik we dɛn kɔl Goldenhar Syndrome afta dɛn bɔn di pikin bay di sayn dɛn we de na do, lɛk we di fes ɛn yes chenj.

Bɔt fɔ kɔnfɔm mɔ ɛn fɔ si if ɔda prɔblɛm dɛn de insay di bɔdi, di dɔktɔ kin du sɔm ɔda tɛst dɛn. Sɔm pan dɛn tin ya na:

• CT skan: Dɛn tin ya kin no di chenj dɛn we de na di strɔkchɔ dɛn we de insay di yes we kin mek pɔsin nɔ yɛri fayn.
• Echocardiogram (echo test) ɔ electrocardiogram (EKG): Dɛn tɛst ya kin chɛk aw di at de wok. As wi bin dɔn tɔk, sɔntɛnde, at sik kin apin.
• Di ɛgzam fɔ di yay: Dɛn kin du dɛn tɛst ya fɔ chɛk fɔ si if tin nɔ fayn insay di yay.
• Ultrasound ɛn X-ray: Dɛn tin ya kin chɛk fɔ chenj na di skel, spayna, lɔng, ɔ kidni.
• Jɛnɛtik tɛst: Dɛn tɛst ya kin ɛp fɔ pul ɔda jɛnɛtik kɔndishɔn dɛn we kin mek pɔsin gɛt di sem kayn sik.
• Stɔdi fɔ slip: Dɛn kin du dɛn tin ya fɔ chɛk fɔ si if pɔsin nɔ ebul fɔ blo fayn fɔ slip.

Yu tink se dɛn kin no dis bifo dɛn bɔn di pikin?

Dis nɔ kin apin so ɔltɛm. Bɔt sɔntɛnde, we dɛn de du ɔltra saund skan bifo di pikin, di dɔktɔ dɛn kin notis se di pikin in jaw, in yes, ɔ in mɔt chenj. If dis apin, dɛn kin pe atɛnshɔn mɔ to am.

Wetin na di tritmɛnt dɛm fɔ dis?

Di tritmɛnt fɔ Goldenhar Syndrome kin difrɛn difrɛn wan bay di sayn dɛm . Nɔto ɔlman dɛn kin trit di sem we. Sɔm pikin dɛn nɔ kin nid ɛni spɛshal tritmɛnt if dɛn sik nɔ kin rili smɔl. Bɔt dɛn kin plan fɔ trit am wit di ɛp we difrɛn spɛshal pipul dɛn kin ɛp, as nid de.

Na sɔm tritmɛnt dɛn ya:

• Ɛp fɔ gi pikin dɛn tin fɔ it: Sɔm pikin dɛn kin gɛt prɔblɛm fɔ suk. If na so i bi, yu kin nid spɛshal bɔtul ɔ nasogastric (NG) it.
• Fɔ mek yu si fayn: Yu kin yuz glas ɔ du ɔpreshɔn fɔ mek yu si fayn.
• Di tin dɛn we dɛn kin yuz fɔ ɛp pɔsin fɔ yɛri: Dɛn kin mek pɔsin yɛri fayn if yu yuz tin dɛn we pɔsin kin yuz fɔ yɛri ɔ tin dɛn we dɛn kin yuz fɔ mek pɔsin yɛri we gɛt bon.
• Tɛrapi fɔ tɔk:Dis rili impɔtant fɔ divɛlɔp langwej ɛn kɔmyunikeshɔn skil dɛm.
• Ɔpreshɔn: Dɛn kin du ɔpreshɔn fɔ kɔrɛkt at sik, lip ɔ palata skata, slip apnɛa, smɔl yes (maykrotia), ɔ spaynal we nɔ fayn.

Dɛn kin du ɔl dis fɔ mek di pikin gɛt bɛtɛ layf as i pɔsibul. So, i rili impɔtant fɔ fala di advays we di dɔktɔ gi yu.

Yu tink se dɛn kin fiks di chenj dɛn we pɔsin kin chenj na in fes?

Yɛs, dis na prɔblɛm fɔ bɔku mama ɛn papa dɛn. Dɛn kin du kɔsmɛtik ɔpreshɔn fɔ mek di fes dɛn we de na di fes go simɛtrik. Bɔku pikin dɛn we gɛt Goldenhar Syndrome kin gɛt ɔpreshɔn fɔ chenj di we aw dɛn jaw, dɛn chɛst, dɛn yes, ɔ dɛn fɔrɛst de luk. Dɛn kin du dis we di pikin dɔn big smɔl, we i ol di rayt ej.

Yu tink se dɛn kin ebul fɔ avɔyd Goldenhar Syndrome?

As wi bin dɔn tɔk bifo tɛm, no shɔt we nɔ de fɔ mek dɛn nɔ gɛt dis sik bikɔs dɛn stil nɔ no di rayt tin we kin mek i gɛt dis sik . Bɔt i impɔtant fɔ fala ɔl di advays dɛn we yu dɔktɔ gi yu we yu gɛt bɛlɛ. Na mɔtalman nɔr de yuz mɛrɛsin wae gɛt retinoic acid (lɛk sɔm akne mɛrɛsin dɛm) wae yu dɔktɔ nɔr advays yu. I impɔtant bak fɔ it fayn it.

If pɔsin na yu famili dɔn gɛt Goldenhar Syndrome, i go fayn fɔ mek yu gɛt kɔyl fɔ yu jɛnɛtiks. Dɔn, if yu de plan fɔ bɔn pikin, yu go ɔndastand di risk we da pikin de gɛt dis sik.

Aw layf go tan lɛk wit dis kɔndishɔn?

Dis kin tan lɛk se yu de mek yu fred smɔl. Bɔt pan ɔl we di fiuja fɔ pipul dɛm wae gɛt Goldenhar Syndrome kin difrɛn, bɔrku pipul dɛm kin gɛt gud tin fɔ du . If dɛn gi di rayt tritmɛnt, pikin dɛn we gɛt dis sik kin liv nɔmal layf. Dɛn kin ebul fɔ lan, ple, ɛn tek pat pan di sosayti.

Wetin na di tin dɛm we yu want fɔ aks di dɔktɔ?

We yu kam fɔ no se yu pikin gɛt dis sik, yu kin gɛt bɔku kwɛstyɔn dɛn. Da tɛm de, nɔ fred fɔ aks yu dɔktɔ dɛn tin ya:

• "Dɔkta/Mis, wetin na di men sayn dɛm fɔ Goldenhar Syndrome?"
• "Us tɛst a nid fɔ du fɔ mek shɔ se mi pikin gɛt dis?"
• "Wetin na di tritmɛnt opshɔn dɛm fɔ dis? Wetin bɛtɛ fɔ mi pikin?"
• "Wetin na sɔm ples dɛn we pɔsin kin abop pan fɔ lan mɔ bɔt dis sityueshɔn?"
• "Ɛni ɔganayzeshɔn ɔ grup fɔ mɛn pikin dɛn de we de ɛp pikin ɛn famili wit dis kayn tin?"

We yu aks dɛn kwɛstyɔn ya, dat go ɛp yu fɔ ɔndastand di tin we de apin ɛn gi yu pikin di bɛst.

Yu tink se Goldenhar Syndrome na disabiliti?

Yɛs, sɔntɛnde dis kin apinDɛn kin tek pɔsin we gɛt disabled as disabled. Fɔ ɛgzampul, if pɔrsin nɔr de yɛri ɔr nɔr de si fayn, i kin bi disabled. Semweso, if pɔsin gɛt disabled intellectual disability, dat pɔsin kin nid mɔ sɔpɔt fɔ du ɛvride wok ɛn lan. So, na wi wok as sosayti fɔ gi dɛn di tin dɛn we dɛn nid ɛn sɔpɔt.

Us ɔda sik dɛn we gɛt di sem kayn sayn?

Bɔrku ɔda sik dɛn de wae gɛt di sem kayn sayn dɛm wae gɛt di sem kayn sik wae de kam wit Goldenhar Syndrome. So, i rili impɔtant fɔ gɛt kɔrɛkt diagnosis. Sɔm pan dɛn tin ya na:

• Brankio-oto-rεnal sεndrכm `(Branchioootorenal (BOR) sεndrכm)`
• CHARGE Asosieshɔn
• Di sik we dɛn kɔl Townes-Brocks sindrom
• Di sik we dɛn kɔl Treacher Collins syndrome
• VACTERL Asosieshɔn

Pan ɔl we dis kin tan lɛk se i nɔ izi fɔ du, dɔktɔ dɛn kin tink bɔt ɔl dɛn tin ya we dɛn de chɛk fɔ no if pɔsin gɛt di sik.

Wetin wi nid fɔ mɛmba frɔm wetin wi dɔn tɔk bɔt!

Goldenhar Syndrome na wan sik wae nɔr kin bɔrku wae kin de wae dɛn bɔn am. I kin mɔs afɛkt di shep we di pikin in fes, in ed, ɛn sɔm tɛm dɛn de insay in pat dɛn. Dɔktɔ dɛn kin kɔrɛkt sɔm tin dɛn we nɔ fayn na dɛn fes ɔ spɛnal we dɛn smɔl wit ɔpreshɔn.

Di impɔtant tin na dat sɔm pikin dɛn nɔ kin nid spɛshal tritmɛnt if dɛn sik nɔ kin izi fɔ dɛn. Ɛn, bɔrku tɛm, pipul dɛm wae gɛt Goldenhar Syndrome kin liv gladi, fulfil layf wit de tritmɛnt ɛn sɔpɔt wae dɛn nid.

If yu tink se yu pikin gɛt ɛni wan pan dɛn sik ya, nɔ panik, bɔt go to dɔktɔ wantɛm wantɛm fɔ advays. If yu no di sik kwik kwik wan ɛn trit yu pikin fayn, dat kin mek yu gɛt bɛtɛ fiuja.

` Goldenhar sεndrכm, kכndyushכn we dεn bכn wit, bכn difεkt, kraniofeshal, hεmifeshal maykrosomia, oculo-auriculo-vεrbral displasia, pikin hεlth