Yu bon dɛn kin brok izi wan? Lɛ wi tɔk bɔt Osteogenesis Imperfecta, ɔ brittle bon disease!

Yu dɔn ɛva yɛri bɔt pipul dɛn we dɛn bɔn wit dɛn bon dɛn we rili wik, we dɛn bon dɛn kin brok izi wan? Sɔntɛm sɔmbɔdi na yu famili, ɔr yu padi in pikin, gɛt dis sik. I rili sɔri ɛn i nɔ izi fɔ du. Tide wi go tɔk bɔt dis ‘brittle bon disease’, ɔr insay mεdikal tεm, Osteogenesis Imperfecta (OI) .

Wetin na di Osteogenesis Imperfecta?

Fɔ tɔk am simpul wan, ɔsteogenesis imperfecta na sik we de afɛkt di kɔnɛktiv tisu na wi bɔdi. Dis kin mek yu bon dɛn kin rili brok. Dis min se dɛn kin brok wit smɔl impak, sɔmtɛm fɔ no rizin at ɔl.

di men rizin fכ dis na biכs wi bכdi nכ de prodyuz inof protin we dεn k כl Tayp I Kכlagen , כ i de mek kolagen we nכ fכm fayn fayn wan. Tink bɔt am dis we, kolagen tan lɛk di glu we de na wi bɔdi. dis kolagen rili imכtant fכ bil di strכkchכ fכ wi bon dεm, skin, mכsul dεm, tεndon dεm, εn כda tin dεm, εn fכ kip dεm strכng. So, we dis kolagen nכ de prodyuz fayn, di bon dεm de wik. di wכd "osteogenesis imperfecta" min "bon dεm we nכ fכm pafεkt."

Bikɔs ɔf dis, pipul dɛm wae gɛt dis sik nɔr kin jɔs gɛt bɔrku bɔrku bɔrku bɔrku ɔl dɛn layf, bɔt dɛn kin gɛt prɔblɛm wit ɔda pat dɛm na dɛn bɔdi lɛk dɛn tit, skin, spayna, ɛn lɔng.

De sayn dɛm fɔ de kayn sik wae kin pasmak nɔr kin bɔrku, bɔt sɔm kayn bad bad tin kin kam wit siriɔs prɔblɛm.

Wetin na di men kayn ɔsteogenesis imperfecta (OI)?

Pan ɔl we dɔktɔ dɛn kin sheb OI to lɛk 19 kayn (tayp I to XIX), wi kin tɔk mɔ bɔt tayp I, II, III, ɛn IV. dis klasification dεm de bay di we aw dεn de prodyuz kolagen εn di ifekt dεm we i gεt pan di bכdi.

• Tayp I: .

Dis na di kayn wae wae kin pasmak, wae nɔr kin gɛt bɔrku sayn dɛm. Pipul wae gɛt OI kin brok dɛn bon izi wan pas pipul dɛm wae nɔr gɛt OI. Bɔt bɔku tɛm, dɛn fraktrɔs ya kin apin bifo dɛn bɔn pikin . Dis kayn we nɔ de mek di bon dɛn gɛt big big difrɛns. Sɔm pipul dɛn kin gɛt blu tin na dɛn yay wayt, we dɛn kɔl di sklera . dis dεn kכl am bak "klasik nכn-difכmetiv כstiojεnεsis impεrfεkta wit blu skεra."

• Tayp II: .

Dis na di kayn OI we rili bad ɛn we denja pas ɔl. pan dis kכndyushכn, di lכng dεm nכ de divεlכp fayn (biכs di rib kεj nכ de fכm fayn), siriכs bon dεm de fכm, εn di pikin kin gεt sεvεra brok bon dεm we i stil de na di bεlε, dat na bifo dεn bכn am. Bebi dɛn we gɛt dis kayn pikin kin day wantɛm wantɛm ɔ insay sɔm dez afta dɛn bɔn dɛn . dεn kכl dis bak "pεrinatal כstiojεnεsis impεrfεkta."

• Tayp III: .

Dis na di kayn OI we kin pas ɔl we dɛn kin pas afta dɛn bɔn am. I kin mek bak di bon dɛn nɔ fayn , ɛn dis kin mek di bon dɛn rili brok. Dis kin mek pɔsin gɛt siriɔs prɔblɛm wit in bɔdi. Bɔku tɛm, dɛn pikin ya kin brok bon we dɛn bɔn dɛn. dεn kכl dis bak "progrεsiv כstiojεnεsis impεrfεkta."

• Tayp IV: .

Dis kayn kin tranga pas Tayp I, bɔt i nɔ kin tranga pas Tayp III. Pipul wae gɛt dis kayn tin kin gɛt smɔl to mɔdaret bon dɛm. Bɔn dɛn kin brok pas di wan dɛn we nɔ gɛt OI, bɔt dɛn nɔ kin brok izi wan lɛk di wan dɛn we gɛt Tayp III. Di wayt dɛn na di yay kin gɛt nɔmal kɔlɔ.

Aw dis sik kin bɔku?

Osteogenesis imperfecta na wan sik we nɔ kin bɔku . Ɔlsay na di wɔl, dɛn se dis sik kin afɛkt lɛk wan pan ɛvri 20,000 pipul dɛn.

Wetin na di sayn dɛm fɔ ɔsteogenesis imperfecta (OI)?

So, wetin na de sayn dɛm fɔ pɔrsin wae gɛt dis sik? Dɛn sayn ya kin difrɛn difrɛn wan fɔ di kayn sik.

• Bɔn dɛn kin brok rili izi (dis na di men ɛn mɔs kɔmɔn sayn) .
• di bon dεm we de fכm (e.g., di leg dεm we dεn bow, di an dεm) .
• Bɔn pen
• di wayt dεm na di yay (sclerae) kin bi blu, grey, כ pepul in kכla.
• Fɔ gɛt brus izi wan
• I nɔ kin izi fɔ yu fɔ blo
• Yu nɔ de yɛri fayn - sɔmtɛm i kin bigin we yu yɔŋ
• Di jɔyn dɛn we lɔs
• Di mɔsul dɛn we wik
• di kכva fכ di spayna - fכ egzampl, wan hunchback (kyphosis) כ wan saydway kכv fכ di spayna (scoliosis) .
• Smɔl ayt
• Triangul fes shep
• Di tit dɛn we wik, i izi fɔ brok, di tit dɛn kin chenj kɔlɔ (sɔntɛm na yɔlɔsh-brawn kɔlɔ) .
• Tit dɛn we nɔ fit togɛda fayn fayn wan (Malocclusion) .
• Rib kech we tan lɛk barɛl

Wetin na di rizin fɔ dis?

di men tin we de mek di osteogenesis imperfecta na di jεnεtik mכtεshכn . Fɔ tɔk am simpul wan, na smɔl mistek we de na di men blɔk we de mek wi bɔdi, dat na, na wi jin dɛn.

dis kin kכz fכ mכtεshכn insay tu jin dεm we dεn kכl COL1A1 כ COL1A2 . dis tu jin dεm de εp fכ mek di protin we dεn k כl Tayp I Kכlagen we wi bin tכk bכt. So, we mכtεshכn de insay dεn jin dεm ya, di bכdi nכ de prodyuz inof kolagen, כ di kwaliti fכ di kolagen we dεn prodyuz de dכn. sכm כda kayn OI dεm we nכ kin apin kin kכz bak bay mכtεshכn dεm na כda kolagen jin dεm.

Sɔntɛnde, dɛn jɛnɛtik chenj ya kin apin wan wan tɛm, we min se dɛn kin apin wantɛm wantɛm. Ɔ, dɛn kin gɛt dɛn frɔm wan mama ɔ papa ɔ dɛn ɔl tu.Sɔm pipul dɛn kin bi pipul dɛn we gɛt di jin we de mek pɔsin gɛt OI. Dis min se ivin if dɛn nɔ gɛt di sik, dɛn kin pas di jin ɛn di sik to dɛn pikin dɛn.

di fכ mכst kכmכn tכp dεm fכ OI (Types I-IV) dεn de inhεrit insay wan כtosom dכminant patεn. Dis min se pikin fɔ gɛt di jin we nɔ fayn frɔm wan mama ɔ papa fɔ mek i gɛt di sik. כda tכp dεm we nכ sכmtεm kin gεt inhεrit insay wan כtosom rεsεsiv (i nid fכ di mama εn papa tu fכ inhεrit di difεktiv jin) כ X-link (inhεrit tru di X kromozom) patεn.

Wetin na di risk factor dɛm fɔ ɔsteogenesis imperfecta (OI)?

Fɔ tru, dis sik kin apin we dɛn bɔn ɛnibɔdi. Bɔt if pɔsin na yu famili gɛt dis sik, yu kin gɛt dis sik nɔ kin bɔku .

Wetin na de prɔblɛm wae kin kam wit dis sik?

di komplikashכn dεm kin difrεn dipכnt pan di kayn εn di kayn we aw di OI de siriכs. Sɔm pan dɛn na:

• At sik, fɔ ɛgzampul, at we nɔ de wok fayn
• Nyumonia we kin apin ɔltɛm
• Prɔblɛm dɛn we pɔsin kin gɛt we i de blo, sɔntɛm i nɔ kin ebul fɔ blo fayn
• Prɔblɛm dɛn we de afɛkt di nervɔs sistɛm

Aw dɔktɔ dɛn kin no bɔt dis sik?

Bɔku tɛm, dɔktɔ dɛn kin no se i gɛt brital bon sik, ɔ OI, we dɛn smɔl. Di men tɛst fɔ dis na:

• Jεnεtik tεst: Dis kin no εksεkεkt if jεnεtik dεfεkt de we de mek OI.
• Bɔn dɛnsiti tɛst: Dɛn tin ya kin chɛk di trɛnk we di bon dɛn gɛt.

Sɔntɛnde, dɔktɔ dɛn kin sɔprayz dis we uman gɛt bɛlɛ bay di kwaliti dɛn we dɛn si pan di pikin in ɔltra saund skan . if dis apin, dεn kin kכnfכm di diagnosis כ we dεn bεlε bay we dεn du wan tεst we dεn kכl amniocentesis (we dεn tek sכm sכm sεmpl fכ di wata we de rawnd di pikin εn dεn tεst in sεl dεm fכ jεnεtiks) כ afta dεn bכn di pikin.

Wetin na di tritmɛnt dɛm fɔ ɔsteogenesis imperfecta (OI)?

Nɔr mɛrɛsin nɔr de fɔ OI, bɔt bɔrku tritmɛnt de wae kin ɛp fɔ mek dɛn bon strɔng, kɔntrol di sayn dɛm, ɛn ɛp pipul dɛm wae gɛt OI fɔ liv fɔ dɛnsɛf as dɛn ebul .

Di tritmɛnt plan go difrɛn frɔm wan pɔsin to ɔda pɔsin. I kin bi se:

• Occupational Therapy (OT): Dis kin ɛp fɔ divɛlɔp di skil dɛm we yu nid fɔ du ɛvride wok, lɛk fɔ drɛs, it, ɛn rayt, fɔ yusɛf.
• Fizik Tɛrapi (PT): Dis kin min fɔ du ɛksɛsayz we nɔ gɛt bɛtɛ impak we kin ɛp fɔ mek di bon ɛn mɔsul dɛn strɔng, fɔ mek pɔsin ebul fɔ muv fayn fayn wan, ɛn fɔ mek di bɔdi balans.
• Di tin dɛn we dɛn kin yuz fɔ ɛp: Walkers , Canes , CrutchesSɔntɛm yu go nid fɔ yuz tin dɛn lɛk stik .
• Kia fɔ yu mɔt ɛn yu tit: Yu fɔ go to dɛntist ɔltɛm fɔ wach ɛn trit prɔblɛm dɛn wit yu tit ɛn yu jaw. Yu kin nid fɔ gɛt ɔtodɔnt kia fɔ mek yu tit dɛn stret.
• Kia fɔ yu respiratory care: If yu gɛt prɔblɛm fɔ blo, yu kin nid fɔ go to pulmonologist fɔ tritmɛnt.
• Mɛrɛsin: Yu dɔktɔ kin gi yu mɛrɛsin lɛk bisphosphonates, we kin ɛp fɔ mek yu bon dɛn strɔng.
• Ɔpreshɔn: Dɛn kin ɔpreshɔn mɛtal rod fɔ mek di bon dɛn we kruk ɔ we nɔ fayn, stret ɛn strɔng.
• Bres, splint, ɔ kast: Dɛn kin yuz dɛn tin ya fɔ protɛkt di bon dɛn we dɔn brok we dɛn de wɛl ɔ afta dɛn dɔn du di ɔpreshɔn.

Wetin na di layf we pɔsin we gɛt ɔsteogenesis imperfecta (OI) kin liv?

Dis rili dipen pan di kayn OI.

• Pɔsin we gɛt Tayp I , we na di kayn we we kɔmɔn ɛn we nɔ gɛt bɛtɛ trɛnk, kin liv nɔmal layf, jɔs lɛk pɔsin we nɔ gɛt OI.
• Pan ɔl we pipul dɛn we gɛt Tayp IV kin liv te dɛn big, dɛn layf kin shɔt smɔl .
• As wi bin dɔn tɔk, pikin dɛn we gɛt Tayp II kin day wantɛm wantɛm ɔ insay sɔm dez afta dɛn bɔn dɛn .

Yu tink se dɛn go ebul fɔ avɔyd dis sik?

Osteogenesis imperfecta na wan sik we de mek pɔsin gɛt jɛnɛtiks, so dɛn nɔ go ebul fɔ stɔp am . Bɔt if yu, yu patna, ɔ pɔsin na yu famili gɛt OI, i impɔtant fɔ tɔk to pɔsin we de advays yu bɔt yu jɛnɛtiks . Dɛn kin advays yu bɔt de risk fɔ pas dis sik to yu pikin dɛm.

Aw pɔsin we gɛt OI go mek in bon wɛl bɔdi fayn?

If yu ɔ yu pikin gɛt ɔsteogenesis imperfecta, yu kin du dɛn tin ya fɔ mek yu bon dɛn gɛt wɛlbɔdi as yu ebul:

• It it dεm we gεt kalsiכm εn vaytam in D. (e.g. milk, chiz, yogכt, grεn vεgεtebul, sכm fish, eg yכlk, we yu de na di san)
• Du tin dɛn we yu dɔktɔ tɛl yu fɔ du fɔ yu bɔdi. (Na ɔnda dɔktɔ advays nɔmɔ!)
• Nɔ yuz rɔm ɛn kafin (we de insay ti, kɔfi, chɔklɛt).
• If yu de smok, stɔp am , ɛn nɔ de na say dɛn we ɔda pipul dɛn de smok (sɛkɔnd smok).
• Tek kia ɔf yu maynd wɛlbɔdi bak . Ɛspɛshali fɔ pikin ɛn yɔŋ pipul dɛm, fɔ tɔk to soshal woka ɔ advaysa bɔt di strɛs we pɔsin kin gɛt we i de liv wit sik lɛk dis kin rili ɛp.

Ustɛm a fɔ go to dɔktɔ?

If yu ɔ yu pikin notis se dɛn bon de brok rili izi , mɔ if i de apin we nɔ gɛt ɛni big injuri, ɔ if dɛn gɛt ɛni wan pan di ɔda OI simptom dɛm we wi dɔn tɔk bɔt, mek shɔ se yu go to dɔktɔ. I kin tɛl yu fɔ du mɔ tɛst if nid de.

Ustɛm a fɔ go na Imejɛnsi Tritmɛnt Yunit (ETU) ?

If yu ɔ yu pikin brok bon , go na di imejensi rum we de nia yu wantɛm wantɛm. Tɛl di dɔktɔ dɛn bak if yu gɛt ɔsteogenesis imperfecta.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

I go fayn fɔ aks kwɛstyɔn dɛn lɛk dis we yu go si yu dɔktɔ:

• Us kayn ɔsteogenesis imperfecta mi/mi pikin gɛt?
• Wetin a fɔ no bɔt layf we a de liv wit OI?
• Aw a go ɛp misɛf/mi pikin fɔ manej di OI simptom dɛm?
• Wetin a fɔ du if mi/mi pikin brok bon?
• Wetin na di chans fɔ mek a gɛt ɔda pikin we gɛt osteogenesis imperfecta?

Pɔsin we gɛt ɔsteogenesis imperfecta (OI) kin waka?

Yɛs, i pɔsibul . Pipul wae gɛt mild form of OI kin waka nɔrmal wan. Sɔm kin nid fɔ yuz bres ɔ stik. Tritmɛnt lɛk fizik tɛrapi (PT) ɛn ɔkupeshɔn tɛrapi (OT) we yu bigin kwik kin ɛp fɔ mek yu pikin ebul fɔ waka fayn fayn wan.

Na nɔmal tin fɔ mek yu fil bad we yu kam fɔ no se yu pikin gɛt wan sik we go de fɔ ɔl in layf. Di tumara bambay kin luk rili difrɛn pas aw yu bin de tink. Bɔt, tin lɛk ɔkupeshɔn tɛrapi ɛn fyzikal tritmɛnt we kin bigin kwik kin ɛp yu ɛn yu pikin fɔ ajɔst to dɛn chenj ya. I impɔtant bak fɔ tɔk ɔnɛs wit yu pikin in mɛdikal tim ɛn di wan dɛn we yu lɛk ɛvri step na di rod. Dɛn kin ɛp yu fɔ kɔntrol di sayn dɛm ɛn mek plan fɔ rɛdi fɔ tumara bambay.

Fɔ dɔn, mɛsej we yu kin kɛr go na os:

Osteogenesis imperfecta na wan tin we nɔ izi fɔ du. Bɔt nɔ giv ɔp fɔ op . Fɔ no bɔt de sik, fɔ gɛt diagnosis ɛn tritmɛnt kwik kwik wan, ɛn fɔ gɛt strɔng sɔpɔt sistɛm kin ɛp yu fɔ kɔntrol yu sik ɛn liv fayn layf as yu ebul. Tɔk opin wan bɔt dis wit yu dɔktɔ ɛn yu famili. Nɔto yu wan de.

` Osteogenesis Imperfecta, Brittle Bone Disease, Kכlagen, Bon Frakshכn, Jεnεtik Sik, Pikin Wεlth