Yu pikin gɛt prɔblɛm wit in yay, yes, ɛn jɔyn dɛn di sem tɛm? Dis kin bi wan sik we dɛn kɔl Stickler Syndrome!

Sɔntɛnde, wi smɔl pikin dɛn kin sik wan afta di ɔda, nɔto so? Bɔt sɔm pikin dɛn kin gɛt sɔm prɔblɛm dɛn we tan lɛk se dɛn nɔ gɛt natin fɔ du wit dɛnsɛf wantɛm wantɛm, lɛk we dɛn nɔ de si fayn , we dɛn nɔ de yɛri, ɛn we dɛn jɔyn dɛn kin pen. Yu dɔn gɛt dis kayn ɛkspiriɛns? Dɔn dis na bɔt wan jɛnɛtik kɔndishɔn we dɛn kɔl Stickler Syndrome, we kin mek pɔsin gɛt dis kayn sik. Pan ɔl we dis kin tan lɛk se i kɔmplikt smɔl, lɛ wi tɔk bɔt am simpul wan.

Wetin na di sik we dɛn kɔl Stickler Syndrome? Fɔ bi prɛsis...

Fɔ tɔk am simpul wan, Stickler syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . Na bikɔs wi jin dɛn chenj. i kin mεntal afekt di kכnektiv tisu dεm na wi bכdi. dis kכnektiv tisu na spεshal kayn tisu we de kכnekt, sכpכt, εn gi shep to כda pat dεm na wi bכdi lεk כgan dεm εn tisu dεm. Tink bɔt am lɛk fɔ yuz simen ɛn waya fɔ ol di wɔl ɛn ruf na wi os togɛda. Dis kɔnɛktiv tisu impɔtant bak to wi bɔdi.

So, insay dis kes fɔ Stickler syndrome, di kɔnɛktiv tisu dɛm na ples dɛm lɛk di fes, yes, yay, ɛn jɔyn dɛn kin afɛkt mɔ. Bikɔs ɔf dis, sɔm pikin dɛn kin gɛt sɔm chenj dɛn na dɛn fes, lɛk we dɛn palata kin skata. Prɔblɛm kin de bak fɔ si , yɛri, ɛn muv. Sɔntɛnde dɛn kin kɔl dis Stickler dysplasia.

Aw dis sik kin kɔmɔn? Udat go mɔs gɛt am?

Dɛn se di sik we dɛn kɔl Stickler syndrome kin afɛkt wan to tri pan ɛvri 7,500 to 10,000 pikin dɛn we dɛn jɔs bɔn. Bɔt bikɔs bɔku tɛm dɛn nɔ kin no di sik, i nɔ kin izi fɔ tɔk ɔmɔs pipul dɛn kin rili sɔfa wit dis sik.

We i kam pan udat gɛt am, ɛnibɔdi kin gɛt Stickler syndrome. Bɔt if sɔmbɔdi na di famili, dat na mama, papa, ɔ brɔda ɛn sista gɛt dis sik, di risk fɔ mek ɔda pipul dɛn gɛt dis sik kin bɔku. כltu, sכmtεm, if yu nכ gεt nכ famili histri, dis sik kin apin bak bikoz fכ wan random chenj na di jin dεm (` jεnεtik mכtεshכn`) . Dat min se, i nɔ nid fɔ bi sɔntin we pɔsin kin gɛt frɔm am.

Aw Stickler Syndrome kin afɛkt di bɔdi?

as wi bin dכn tכk bכt, dis kכndyushכn de afekt di kכnektiv tisu. wan pan di men wok dεm we di kכnektiv tisu dεm na wi bכdi de du na fכ protεkt εn sכpכt כda tisu dεm εn כgan dεm. so, we mכtεshכn, כ difεkt, de na wan jin we de mek dis kכnektiv tisu, da jin de nכ de gεt di rayt instrכkshכn fכ aw fכ mek dis kכnektiv tisu εn aw i fכ wok.

Dis na di rizin, fɔ pɔsin we gɛt Stickler syndrome, .Di we aw pɔsin de si, di we aw i de yɛri, ɛn di we aw di jɔyn dɛn de muv kin afɛkt. Di yay, yes, ɛn jɔyn dɛn kin afɛkt mɔ. Pipul wae gɛt Stickler syndrome kin gɛt at at sik wae dɛn smɔl . Bɔt if dɛn trit dɛn fayn, dɛn kin kɔntrol di sayn dɛm ɛn pipul dɛm wae gɛt dis sik kin liv nɔrmal, aktif layf .

Wetin na di sayn dɛm fɔ dis? Aw fɔ no am?

Di sayn dɛm fɔ Stickler syndrome kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin . Nɔto ɔlman go gɛt ɔl di sayn dɛm. Na dat mek i rili spɛshal. Fɔ ɛgzampul, wan pikin kin gɛt mɔ prɔblɛm wit in yay, ɛn ɔda wan kin gɛt mɔ pen na in jɔyn.

Bɔrku men kayn sayn dɛm de wae yu kin si:

Bɔn ɛn jɔyn prɔblɛm dɛn:

• Fɔs , di jɔyn dɛn kin fleksibul pasmak , bɔt as tɛm de go dɛn kin bigin fɔ stif .
• Wan kɔba na di spayna, ɔ skɔliosis, kin apin.
• At at sik kin kam pan pɔsin we i yɔŋ. Imajin if pikin, we nɔ ivin ol tɛn ia, wek na mɔnin ɛn kɔmplen se dɛn jɔyn dɛn de pen, yu fɔ wɔri.

Prɔblɛm dɛn we gɛt fɔ du wit yu yɛri ɛn we yu yɛri:

• Di we aw pɔsin kin yɛri kin apin difrɛn difrɛn we dɛn. Sɔm pipul dɛn kin jɔs gɛt smɔl smɔl tin we dɛn kin yɛri, ɛn ɔda wan dɛn kin gɛt dɛf at ɔl.

Prɔblɛm dɛn we de na di yay:

• Siriɔs nia si (ɔ myopia) min se na tin dɛn nɔmɔ we de nia yu kin si klia wan, we di tin dɛn we de fa nɔ kin blɔk.
• Di retina we dɔn kɔmɔt. Dis kin apin wantɛm wantɛm ɛn i nid fɔ gɛt tritmɛnt kwik kwik wan.
• Katarakt we pɔsin kin gɛt .
• Prɛshɔn we de go ɔp na di yay, we dɛn kɔl glaukoma.

Speshal tin dɛn we yu kin si na di fes:

Bɔrku tɛm, di fes shep fɔ pikin dɛm wae gɛt dis sik kin afɛkt bak we dɛn de divɛlɔp.

• Cleft palate : Dis min se gap de na di ruf na di mɔt.
• abnכmal sכm εn rεsεs lכw jaw (`micrognathia`) : sכmtεm dεn kכl dis `Pierre Robin sikεns`. Dis kin mek sɔm pikin dɛn nɔ kin ebul fɔ blo ɛn swɛla.
• Di fes kin flat ɛn di nos kin smɔl.

Ɔda sayn dɛn we de sho se yu gɛt dis sik:

Apat frɔm dis, yu kin si ɔda sayn dɛm:

• i at fכ brith (especially fכ pikin dεm we gεt maykrognatia).
• I nɔ izi fɔ it pikin dɛn we dɛn jɔs bɔn.
• Lanin chalenj bikɔs ɔf di we aw i nɔ de si ɛn yɛri fayn.

Impɔtant: Nɔto ɔlman go gɛt ɔl dɛn sik ya. Nɔ wɔri if yu pikin gɛt wan ɔ tu pan dɛn sik ya, bɔt if yu si sɔm pan dɛn togɛda, i go fayn fɔ mek yu go to dɔktɔ.

Difrɛn kayn Stickler Syndrome de?

Yɛs, siks men kayn Stickler syndrome de we dɛn dɔn no. De kayn sik ɛn aw de sik kin difrɛn difrɛn wan fɔ dɛn kayn tin ya.

• Tayp I: Dis na di kayn we we pipul dɛn kin yuz mɔ . Wae yu nɔr de yɛri fayn fayn wan ɛn wae yu nɔr de si fayn fayn wan na di men sayn dɛm.
• Tayp II: Dis kin afɛkt mɔ we yu nɔ de yɛri fayn ɛn we yu nɔ de si nia.
• Tayp III: Wae yu nɔr de yɛri fayn ɛn yu gɛt prɔblɛm wit yu jɔyn na di men sayn dɛm. Bɔku tɛm, di sayn dɛn we pɔsin kin si nɔ kin si am .
• Tayp IV, V, ɛn VI: Dɛn kayn ya nɔ kin bɔku . Dɛn kin gɛt siriɔs prɔblɛm wit dɛn yay ɛn yɛri. Dɛn kin gɛt mɔ kɔmpleks simptom dɛm bak, lɛk di ɛnd dɛm na di lɔng bon dɛm we big (spondyloepiphyseal dysplasia) ɛn at at sik.

Dɔktɔ dɛn kin no us kayn pɔsin pɔsin fɔ bi bay di sayn dɛn we i gɛt ɛn di tɛst dɛn we i de du.

Wetin na di rizin we mek dis de apin? Wetin na di tin dɛn we kin mek pɔsin gɛt jɛnɛtiks?

Di men tin we kin mek pɔsin gɛt Stickler syndrome na we di jenɛtik chenj . dis mכtεshכn kin apin insay eni wan pan di siks jin dεm we de instכkt wi bכdi fכ mek wan spεshal protin we dεn k כl kolagen . kolagen na di men tin we de gi wi kכnektiv tisu dεm dεn fleksibiliti εn trεnk. Tink bɔt am lɛk rɔba band, we de gi dɛn elastik ɛn trɛnk.

So, we difεkt de na dεn jin dεm ya, di kolagen protin nכ de prodyuz fayn fayn wan. dis kin mεntal afekt di kolagen we de mek wi katilej εn di tin we lεk jεli insay wi yay. pan dεn jin dεm ya, jin dεm lεk `(COL2A1)`, `(COL11A1)`, `(COL11A2)` na di men wan dεm.

If pikin gɛt wan pan dɛn jin ya we dɔn chenj, dɛn kin sho sayn dɛn fɔ Stickler syndrome.

Aw dɛn kin gɛt dɛn jin ya?

Tu men we dɛn de we dis kin gɛt frɔm dɛn mama ɛn papa:

• כtosom dכminant fכm:Dis na di kayn we we dɛn kin yuz mɔ (espɛshali di kayn I, II, ɛn III). wetin de apin ya na dat ivin if wan mama εn papa gεt di jin mכtεshכn, 50% chans de fכ di pikin go gεt am.
• כtosomal rεsεsiv: dis kin rεs sכmtεm (dεn kin si am na di tכp IV, V, εn VI). Na ya, mama ɛn papa dɛn ɔl tu fɔ bi pipul dɛn we gɛt wɛlbɔdi . Dat min se dɛn nɔ gɛt ɛni sayn, bɔt dɛn gɛt wan jin we dɔn chenj. If na so, 25% chans de fɔ mek di pikin gɛt di sik.

sכmtεm, nyu jεnεtik mכtεshכn (`de novo mutation`) kin apin randomly , we nכ gεt nכ famili histri. I nɔ kin izi fɔ tɔk bɔt dɛn tin ya bifo tɛm.

Aw dɔktɔ dɛn kin no bɔt dis?

Dɔktɔ kin fala sɔm tin dɛn fɔ no if i gɛt Stickler syndrome.

• Wan ditayl famili mɛdikal histri ɛn bɔdi ɛgzam: Fɔs, dɛn go aks yu ɛn yu pikin bɔt yu sik ɛn if ɛnibɔdi na yu famili dɔn gɛt di sem kayn sik. Dɔn, dɛn go chɛk yu pikin fɔ si if ɛni spɛshal tin de na in fes, in yes, in yay, ɛn in jɔyn dɛn.
• Test fɔ si ɛn yɛri: Na spɛshal dɔktɔ dɛn kin du dɛn tɛst ya fɔ no di lɛvɛl we pɔsin de si ɛn yɛri.
• Imej tɛst: Sɔntɛnde dɛn kin du tɛst lɛk ɛkstrem rayt fɔ chɛk fɔ ɛni abnɔmal tin na di bon ɛn jɔyn dɛn.
• Jεnεtik tεst: Dis na di men tεst we de εp fכ mek di difinitiv diagnosis. Dɛn kin tek blɔd sɛmpul ɔ tisu sɛmpul ɛn tɛst fɔ di jenɛtik muteshon we kin mek pɔsin gɛt Stickler syndrome.

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

Yes, sכ mtεm we dεn tεst di jεnεtiks bifo dεn b כn, dεn kin no εni abnכmaliti כ mכtεshכn na di pikin in jin dεm. Bɔt dɛn kin du difinitiv diagnosis afta dɛn bɔn di pikin, afta dɛn dɔn du kɔmplit fizik ɛgzamin ɛn ɔda tɛst dɛn we nid fɔ du fɔ kɔnfirm di sayn dɛm.

Wetin na di tritmɛnt dɛm fɔ Stickler Syndrome?

Dis na prɔblɛm we bɔku pipul dɛn gɛt. Naw, no mɛrɛsin nɔ de fɔ mɛn Stickler syndrome. Bɔt nɔ wɔri. Bɔku fayn tritmɛnt dɛn de fɔ kɔntrol di sik dɛn ɛn fɔ ridyus di impak we dɛn kin gɛt . Fɔ no di sik kwik kwik wan ɛn fɔ trit am na di tin dɛn we impɔtant pas ɔl. Ɛspɛshali we di retina dɔn kɔmɔt ɔ di jɔyn prɔblɛm, if dɛn trit am kwik kwik wan, dat kin mek i nɔ gɛt big big damej.

Di we aw dɛn kin trit am kin difrɛn difrɛn wan bay di sayn dɛm. Na sɔm pan di men tritmɛnt dɛn ya:

• Mek yu yay si fayn fayn wanFɔ gi ayglas ɔ kɔntakt lens.
• Fɔ gi ɛp fɔ yɛri fɔ mek yu yɛri fayn.
• Gi mɛrɛsin fɔ ridyus di pen na di jɔyn dɛn.
• If ɛnitin kruk ɔ nɔ alaynɛd ​​na di tit, dɛn kin du ɔtodɔnt tritmɛnt fɔ kɔrɛkt dɛn.
• fyzikal tεrapi ( lεk spεshal εksεsayz) fכ mek di joyn dεm strכng εn fכ mek yu ebul fכ muv fayn fayn wan.
• Ɔpreshɔn:
• Riatachmεnt fכ wan detached rεtina (rεtina riatachmεnt כpεrayshכn).
• Kleft palata ripair.
• If yu de blo bad bad wan, dɛn kin put smɔl tiub na di nɛk fɔ mek i izi fɔ blo (i kin bi se na tracheostomy).
• Ripa ɔ riples di jɔyn dɛn we dɔn pwɛl.

Tru dis tritmɛnt, pikin ɛn big pipul dɛm wae gɛt Stickler syndrome kin gɛt bɔrku ɛp fɔ liv nɔrmal, ful, ɛn aktif layf .

Yu tink se dɛn go ebul fɔ mek dis tin nɔ apin?

Stickler syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, so dɛn nɔ kin ebul fɔ avɔyd am . Bɔt if pɔsin na yu famili gɛt dis sik ɛn yu de plan fɔ bɔn pikin, fɔ advays yu jɛnɛtiks ɛn tɛst fɔ yu jɛnɛtiks kin ɛp yu fɔ ɔndastand di prɔblɛm we yu pikin gɛt fɔ gɛt dis sik.

Wetin yu kin ɛkspɛkt wae yu de liv wit Stickler Syndrome?

Pan ɔl we no mɛrɛsin nɔ de fɔ dis sik, i nɔ kin afɛkt di we aw pɔsin de liv in layf . Dat min se, pipul dɛm wae gɛt dis sik de liv nɔrmal layf span lɛk ɔlman. Wit ɔltɛm mɛdikal monitarin, tritmɛnt we nid, ɛn sɔpɔt, bɔku pipul dɛn de liv rili aktif ɛn fulfil layf.

Di tin we impɔtant pas ɔl na fɔ no di sik we dɛn smɔl ɔ we dɛn smɔl . Dɔn, dɛn kin ebul fɔ kɔntrol di sik dɛn kwik kwik wan ɛn dɛn kin avɔyd di prɔblɛm dɛn we kin apin tumara bambay.

Sɔntɛnde, di sik kin kam bak ivin afta dɛn dɔn trit am. Fɔ ɛgzampul, ivin if dɛn du yu ɔpreshɔn fɔ pul wan retina we dɔn kɔmɔt, di sik kin kam bak. So, i rili impɔtant fɔ go to dɔktɔ ɔltɛm ɛn pe atɛnshɔn to di sayn dɛn we yu gɛt .

Ɛni impak de pan di tin dɛn we dɛn kin du ɛvride?

Dis kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin, i kin dipen pan di kayn sik wae de kam pan pɔrsin. Sɔm pipul dɛn nɔ kin gɛt bɔku impak, ɛn ɔda wan dɛn kin gɛt fɔ liv wit sɔm tin dɛn we dɛn nɔ ebul fɔ du. Mɔtalman, dɔktɔ dɛn kin advays yu fɔ avɔyd kɔntakt spɔt , lɛk rɔgbi ɛn futbɔl, bikɔs di risk fɔ mek yu retina nɔ kɔmɔt na yu bɔdi kin bɔku pan dɛn kayn spɔt dɛn de.

Ustɛm yu fɔ go to dɔktɔ?

If yu ɔ yu pikin gɛt sɔm kayn sik wae yu tink se kin gɛt fɔ du wit Stickler syndrome ɛn de afɛkt yu ɛvride woke te yu nɔr ebul fɔ woke, mek shɔ se yu go to dɔktɔ.

• If yu gɛt siriɔs pen na yu jɔyn dɛn .
• If yu vishɔn chenj wantɛm wantɛm (fɔ ɛgzampul, yu nɔ de si fayn, yu si layt dɛn de flash bifo yu yay, yu si blak dɔt ɔ nɛt we de flɔt bifo yu yay, ɔ yu fil lɛk shado na wan pat pan yu yay - dɛn tin ya kin bi sayn fɔ se yu retina dɔn kɔmɔt).
• If i nɔ izi fɔ yu fɔ swɛla it ɔ drink.
• If di say we dɛn du yu ɔpreshɔn de blɔd, swel, ɔ gɛt yɔlɔ dischaj (dis kin min se yu gɛt infekshɔn).

I rili impɔtant: If yu ɔ yu pikin gɛt prɔblɛm fɔ blo , na imejensi. Go na di ɔspitul we de nia yu wantɛm wantɛm, ɔ kɔl 1990.

Wetin na di impɔtant kwɛstyɔn dɛn we wi fɔ aks di dɔktɔ?

Wae yu no se yu ɔ yu pikin gɛt Stickler syndrome, yu kin aks di dɔktɔ kwɛstyɔn dɛn lɛk dis:

• Aw siriɔs dis sik wae dɛn kɔl Stickler Syndrome?
• Wetin na di rizin fɔ dis?
• Aw dis go afɛkt mi pikin in layf ɛvride?
• Us prɔblɛm dɛn we a fɔ wɔri bɔt mɔ? Wetin na dɛn sayn dɛn?

Apat frɔm dɛn kwɛstyɔn ya, tɔk to yu dɔktɔ bɔt ɛnitin we yu de tink, ɛnitin we yu de fred, ɔ dawt.

Fɔ dɔn, di pɔynt dɛn we impɔtant pas ɔl (Take-Home Message) .

Stickler syndrome kin mek yu fred smɔl fɔ yɛri. Bɔt mɛmba dɛn tin ya:

• Dis na jɛnɛtik kɔndishɔn , nɔto sɔntin we de bikɔs yu nɔ tek tɛm.
• Bikɔs i kin mɔs afɛkt di kɔnɛktiv tisu , i kin mek chenj na di yay, yes, jɔyn, ɛn fes.
• Di sayn dɛm kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin .
• Pan ɔl we dɛn nɔr dɔn ebul fɔ mɛn am kɔmplit wan, bɔku tritmɛnt dɛn de fɔ ɛp fɔ kɔntrol di sik ɛn liv bɛtɛ layf .
• Fɔ no di sik kwik kwik wan ɛn fɔ bigin tritmɛnt na di bɛst we fɔ mek yu gɛt sakrifays.
• If sɔmbɔdi na yu famili gɛt dis sik, i impɔtant fɔ go to advays bɔt yu jɛnɛtiks .

If pɔrsin wae gɛt Stickler syndrome nɔr de panik ɛn fala di rayt mɛrɛsin advays, i kin sɛt di stej fɔ gɛt gud layf lɛk ɔlman. If yu gɛt ɛni ɔda kwɛstyɔn, nɔ shem fɔ tɔk to dɔktɔ.

` Stikla sεndrכm, jεnεtik sik dεm, kכnektiv tisu, kolagen, we dεn nכ de si fayn, we dεn nכ de yεri, jכyn dizayd, pikin dεm in hεlth