Yu pikin gɛt prɔblɛm wit in bon ɛn jɔyn dɛn? - Lɛ wi lan bɔt Spondyloepiphyseal Dysplasia Congenita (SEDC) .

Yu tink se di dɔktɔ tɛl yu se yu smɔl pikin gɛt sɔm smɔl chenj dɛn na in bon ɛn jɔyn dɛn we dɛn bɔn am? Ɔ yu dɔn notis se yu pikin shɔt pas ɔda pikin dɛn, ɔ sɔntin de we difrɛn bɔt aw dɛn de waka? Sɔntɛm ivin prɔblɛm dɛn we pɔsin kin si. Na nɔmal tin fɔ mek yu fil fred we yu yɛri dɛn tin ya. Bɔt nɔ wɔri. Tide wi go tɔk bɔt wan jɛnɛtik kɔndishɔn we nɔ kin apin so ɔltɛm we kin mek dɛn gɛt dɛn sik ya, we dɛn kɔl Spondyloepiphyseal Dysplasia Congenita, ɔ SEDC fɔ shɔt tɛm.

Us kayn sityueshɔn dis SEDC rili bi?

Fɔ tɔk am simpul wan, SEDC na wan sik we nɔ kin bɔku we pɔsin kin gɛt we i kam pan jɛnɛtiks . I kin afɛkt di we aw yu pikin in bon dɛn, in jɔyn dɛn, ɛn sɔntɛnde ivin in yay dɛn de gro. di imכtant tin na dat dεn ifekt dεm ya kin bigin na di bεlε εn di sayn dεm de sho we dεn bכn am . na dat mek dεn kכl am "congenita," we min "frכm we dεn bכn am."

Pikin dɛn we gɛt SEDC kin sho dɛn tin ya:

• di joyn dεm we nכ de na di spayna, di hip jכint dεm, εn di kכn jכint dεm we nכ sכm.
• Skel displasia na wan kכndyushכn we de afekt di כl divεlכpmεnt fכ pikin.
• Shorter than average height , mɔ na di trɔnk, nɛk, ɛn di an ɛn fut dɛn.
• Di we aw pɔsin nɔ de si ɛn yɛri fayn .

Dɛn kin kɔl dis kɔndishɔn sɔm ɔda nem dɛn, fɔ ɛgzampul:

• SED we dɛn bɔn wit (SED we dɛn bɔn) .
• SED, we na di kayn we we dɛn bɔn wit
• SEDc
• Spondyloepiphyseal dysplasia, we na di kayn we we pɔsin kin bɔn wit

Dis kin so bɔku dat i kin afɛkt lɛk wan pan ɛvri 100,000 pikin dɛn we dɛn bɔn layf layf wan . Dat na tin we nɔ kin apin so ɔltɛm. Naw, na 175 pipul dɛn nɔmɔ dɛn dɔn ripɔt ɔlsay na di wɔl.

Wetin na di difrɛns bitwin SEDC ɛn SEDT?

lεk SEDC, כda kכndyushכn de we dεn kכl Spondyloepiphyseal Dysplasia Tarda (SEDT) . Pan ɔl we dɛn tu tin ya tan lɛk, sɔm smɔl tin dɛn de we difrɛn.

"Congenita" min "we dɛn bɔn am", "Tarda" min "let". Dat na:

• di simptom dεm fכ SEDT kin sho bitwin di ej dεm we ol 6 εn 8. כltu, dεn kin si SEDC we dεn bכn am.
• SEDT de afɛkt bɔy pikin dɛn nɔmɔ , bɔt SEDC kin afɛkt bɔy pikin ɛn gyal pikin dɛn ikwal.
• Pipul wae gɛt SEDC kin gɛt risk fɔ mek dɛn nɔ gɛt di rεtina, bɔt dis risk kin jεnarali smɔl na SEDT.

Wetin na di rizin we mek dɛn mek SEDC?

di men kכz fכ SEDC na di mכtεshכn na di jin `COL2A1` . dis `COL2A1` jin de rispansabl fכ di prodyushכn fכ Tayp II kolagen na wi bכdi.I de ɛp fɔ mek wan prɔtin we dɛn kɔl kolagen. Kכlagen implεnt fכ bil kכnektiv tisu na wi bכdi. Na in de gi wi tisu dɛn trɛnk ɛn shep.

di tayp II kolagen de fכs fכs insay di katilej εn wan tin we dεn kכl vitreous . di kכtilaj na wan strכng yet fleksibul kכnektiv tisu we de fכm na ples dεm lεk wi jכint dεm εn wi yes lכb dεm. Vitreous na tin we tan lɛk jeli we de insay wi yay bɔl dɛn. So if dis kolagen nɔ kɔmɔt fayn, yu kin imajin aw i go afɛkt ples dɛn lɛk wi bon, jɔyn, ɛn yay.

כltu, SEDC de kכz f כ wan nyu jin mכtεshכn (de novo mכtεshכn) . Dis min se nɔbɔdi na di famili nɔ bin dɔn gɛt dis sik bifo. ``de novo mכtεshכn`` de apin we wan sεl εn eg de kam togεda. Na da pikin de nɔmɔ i de afɛkt, nɔto da pikin in brɔda ɛn sista dɛn.

כltu, sכmtεm dis `COL2A1` jin mכtayshכn kin kכmכt frכm wan pan di mama εn papa.

Wetin na di sayn dɛm fɔ SEDC?

Di sayn dɛm fɔ SEDC kin difrɛn bad bad wan frɔm wan pɔsin to ɔda pɔsin . Sɔm pipul kin gɛt mɔr sayn, sɔm kin gɛt smɔl.

Di men tin dɛn we pɔsin kin si na di bɔdi na:

• Di trɔnk, di nɛk, ɛn di an ɛn fut dɛn shɔt pas ɔda wan dɛn.
• bi sכt , bitwin 3 εn 4 fit (0.91 - 1.2 mita) in ayt we i big.
• Wan wayd bɔks we tan lɛk barɛl . Di brɔstbon ɔ di rib dɛn kin kɔmɔt na do.
• Klɔbfut . Bɔt di sayz ɛn shep fɔ di an ɛn fut kin bi nɔmal.
• Difrɛn kɔva dɛn na di spayna . fכ egzampl, kכndishכn dεm kin de lεk saydway kכva (Scoliosis), bak kכva (Kyphosis), fכwכd kכva (Lordosis), כ wan kכmbaynshכn fכ dεn tin ya.
• Sɔm chenj dɛn we kin apin na di fes , lɛk we di yay dɛn kin big, di chɛst we kin flat, ɔ we di palata kin skata .
• di vεrbra dεm na di spayna kin flat כ i nכ kin stebul .
• di hip ɔ di knee joyn dɛn we de rɔn insay .

Sɔm sayd ɛfɛkt dɛn de bak we kin apin bikɔs ɔf dɛn prɔblɛm ya we kin apin to pɔsin we i de gro:

• Di kɔndishɔn we gɛt at at sik.
• I nɔ izi fɔ waka ɛn muv .
• I nɔ de yɛri fayn .
• Di joyn dɛn kin stif, pen, ɛn we kin kɔmɔt na di say we dɛn de .
• Sciatica na wan sik wae de mek yu fil pen na yu lכw bak, bכtכk, εn bak pan di leg dεm bikoz fכ kכmprεshכn wan nerv.
• I nɔ izi fɔ blo bikɔs ɔf prɔblɛm wit di divɛlɔpmɛnt na di chɛst ɔ di rib dɛn.
• Prɔblɛm dɛn we pɔsin kin si , mɔ we pɔsin kin si nia ɛn we i nɔ kin si di rεtina .
• We yu de wakaWaddling gait ɔ tek lɔng tɛm fɔ lan fɔ waka.
• di mכsul dεm we de dכn (Hypotonia) .

Impɔtant tin na dat, pipul dɛn we gɛt SEDC kin gɛt gud intɛlektual divɛlɔpmɛnt. Dis min se dɛn nɔ kin si pipul dɛn we gɛt disabiliti fɔ lan. Bɔt, dɛn nɔ kin ebul fɔ rich di impɔtant tin dɛn we pɔsin kin du we i de divɛlɔp in bɔdi lɛk fɔ sidɔm ɛn waka we i ol di rayt ej.

Aw fɔ no di SEDC stetɔs?

Dɔktɔ kin no se i gɛt SEDC bay we i tek tɛm wach di pikin in bɔdi ɛn di rizɔlt fɔ dɛn tɛst ya:

• jεnεtik tεst - dis kin kכrekt fכ no if mכtεshכn de insay di `COL2A1` jin.
• X-ray fɔ di wan ol skel.
• Ɔda tɛst dɛn we dɛn kin du fɔ tek pikchɔ, lɛk CT skan (Computed Tomography scans) ɛn MRI (Magnetic Resonance Imaging) .

Tritmɛnt de fɔ SEDC? Yu tink se dɛn kin mɛn am?

I sɔri fɔ no se, no mɛrɛsin nɔ de fɔ SEDC yet . Bɔt nɔ wɔri. Na sɔm tin dɛm wae yu kin ɛkspɛkt frɔm tritmɛnt:

• Fɔ kɔntrol ɛn ridyus yu sik dɛn .
• If i pɔsibul, fɔ kɔrɛkt di skel we nɔ fayn tru ɔpreshɔn .
• Fɔ mek yu nɔ gɛt prɔblɛm dɛn lɛk fɔ wund ɛn fɔ lɛ yu nɔ si fayn.
• Fɔ mek yu gɛt mɔ trɛnk ɛn fɔ ebul fɔ muv fayn fayn wan .

Us tritmɛnt dɛn de fɔ SEDC?

De tritmɛnt wae dɛn kin gi yu kin difrɛn frɔm pɔrsin to ɔda pɔrsin , i kin dipen pan us patikyula prɔblɛm wae yu gɛt ɛn aw dɛn kin tranga.

Dɔktɔ dɛn fɔ de wach yu ɔltɛm . Dis we ya, if ɛni prɔblɛm kam, dɛn kin no am ɛn trit am kwik kwik wan. Yu mɛdikal tim kin gɛt spɛshal pipul dɛn lɛk:

• Di wan dɛn we de advays pipul dɛn bɔt di jɛnɛtiks
• Ophthalmologists - Dɛn wan dɛm wae de trit sik dɛm na di yay.
• Ɔtpidik ɔspitul dɛn - spɛshal pipul dɛn we de du ɔpreshɔn pan bon ɛn jɔyn.
• Fyzikal thεrapist dεm - pipul dεm wae de εp fכ bεtεh trεnk, muvmεnt, εn waka.
• Riumatɔlɔjis - Dɔktɔ dɛm we de trit bon, mɔsul, ɛn jɔyn sik dɛm lɛk at at.

Dis na di tin dɛn we pɔsin kin du:

• Di tin dɛn we de ɛp pɔsin fɔ muv, lɛk di leg bres.
• Glas fɔ kɔrɛkt di we aw pɔsin nɔ de si fayn.
• Mɛrɛsin fɔ ridyus di pen na di jɔyn dɛn.
• Fizik tritmɛnt .
• Ɔpreshɔn fɔ kɔrɛkt di spaynal difɔmiti dɛn.
• Ɔda prɔblɛm dɛn we kin apin to di jɔyn dɛn, fɔ ɛgzampul, ɔpreshɔn fɔ chenj di jɔyn dɛn .
• Ɔpreshɔn fɔ kɔrɛkt di retina detachment.
• Tritmɛnt fɔ mek i izi fɔ blo.

Aw layf go tan lɛk wit SEDC?

Layf wit SEDC kin difrɛn bad bad wan frɔm pɔrsin to ɔda pɔrsin , i kin dipen pan de sik ɛn aw dɛn kin tranga.

Dis kכndyushכn kin rili afekt yu mobiliti εn di ebul fכ du fכshal aktiviti dεm. Bɔku pipul dɛn kin nid fɔ gɛt mɛrɛsin ɛn ɔpreshɔn fɔ ɔl dɛn layf.

Bɔt, di bɛst tin na dat pipul dɛn we gɛt SEDC gɛt nɔmal intɛlektual divɛlɔpmɛnt ɛn dɛn kin ebul fɔ liv nɔmal layfspan .

We de fɔ mek dɛn nɔ gɛt SEDC?

I sɔri fɔ no se, no we nɔ de fɔ mek dɛn nɔ gɛt SEDC bikɔs na jenɛtik. we dεn no se sכm famili dεn gεt di `COL2A1` jin mכtεshכn kin mek dεn tink tu tεm fכ bכn pikin כ fכ go fכ jεnεtik kכnsεl.

Aw yu kin kia fɔ pɔsin we gɛt SEDC (yusɛf ɔ yu pikin)?

If yu ɔ yu pikin gɛt SEDC, i rili impɔtant fɔ fala dɛn advays ya fɔ mɛn di sik:

• Si yu dɔktɔ dɛn pan di de dɛn we dɛn dɔn sɛtul, atɛnd ɔl di tɛst dɛn ɛn fɔ fala di apɔntinmɛnt dɛn .
• Stay away frɔm kɔntakt spɔt , mɔ di aktiviti dɛm we kin mek yu ed ɛn nɛk wund, bikɔs di jɔyn dɛn nɔ kin stebul ɛn i kin izi fɔ wund.
• Tek tɛm bad bad wan we yu de tek anestezi . Tɛl ɔl yu dɔktɔ dɛm se yu gɛt SEDC, bikɔs sɔm pan yu bɔdi kin mek yu gɛt prɔblɛm we yu de du ɔpreshɔn.
• Tray fɔ fɛn advays ɔ jɔyn sɔpɔt grup fɔ ɛp yu fɔ bia wit dis prɔblɛm. Dis go ɛp yu fɔ lan frɔm ɔda pipul dɛn ɛkspiriɛns ɛn ɛp yu fɔ fil se nɔto yu wangren de.

Wetin ɔda tin yu go lɛk fɔ aks yu dɔktɔ bɔt SEDC?

If yu ɔ yu pikin gɛt SEDC, i fayn fɔ aks yu dɔktɔ dɛn dɛn kwɛstyɔn ya:

• Us pat dɛn na mi bɔdi SEDC de afɛkt ?
• Us spɛshal pipul dɛn a fɔ si?
• Aw ɔltɛm a fɔ kam fɔ fala-ap tɛst ɛn apɔntinmɛnt ?
• Us tritmɛnt dɛn a nid ?
• Yu tink se anestezi sef fɔ mi ?
• Yu tink se dis kɔndishɔn kin bi frɔm mi pikin dɛn ?
• Yu tink se ɔda pipul dɛn bak na wi famili fɔ du jenɛtik tɛst ?
• Yu no ɛni sɔpɔt grup wae go ɛp yu fɔ bia wit dis sik?

Na nɔmal tin fɔ mek yu fred ɛn wɔri we yu kam fɔ no se yu pikin gɛt wan sik we dɛn kɔl jenɛtik we nid fɔ gɛt tritmɛnt. Bɔt mɛmba se yu mɛdikal tim de fɔ ɛp yu. Tru dɛm, yu kin fɛn sɔpɔt grup dɛm bak usay yu kin sheb yu ɛkspiriɛns wit ɔda pipul dɛm wae gɛt dis rare jenɛtik kɔndishɔn.

Di tin dɛn we impɔtant pas ɔl we wi fɔ mɛmba

Okay, so, frɔm wetin wi dɔn tɔk bɔt SEDC, dɛn tin ya na di impɔtant tin dɛn we yu nid fɔ mɛmba:

• SEDC na wan sik we nɔ kin apin so ɔltɛm, we dɛn bɔn wit jɛnɛtiks .
• Dis kin afɛkt di bon dɛn, di jɔyn dɛn, ɛn sɔntɛnde di yay mɔ .
• Pan ɔl we no kɔmplit mɛrɛsin nɔ de fɔ dis, difrɛn tritmɛnt dɛn de fɔ kɔntrol di sik dɛn ɛn fɔ mek yu liv bɛtɛ layf .
• Intɛlektual divɛlɔpmɛnt na nɔmal tin , ɛn dɛn kin ɛkspɛkt fɔ liv nɔmal layf.
• Dɛn kin ebul fɔ du gud manejmɛnt if dɔktɔ de kia fɔ dɛn fayn fayn wan, dɛn kin trit dɛn bɔdi fayn, ɛn if nid de, dɛn kin du ɔpreshɔn pan dɛn .
• Nɔto yu wan de. Yu kin gɛt ɛp frɔm dɔktɔ dɛn ɛn sɔpɔt grup dɛn .

A op se dis infɔmeshɔn go ɛp yu. If yu gɛt ɛni kwɛstyɔn, nɔ shek fɔ aks yu dɔktɔ.

` spondyloepiphyseal dysplasia congenita, SEDC, jεnεtik sik dεm, bon divεlכpmεnt, jכyn prכblεm, sכt ayt, kolagen, COL2A1 jin