Yu an ɔ yu leg tik we nɔ kɔmɔn? Lɛ wi lan bɔt dis sik we nɔ kin bɔku na di bon (Melorheostosis)!

Sɔntɛnde, yu ɔ yu pikin kin fil wan strenj tik ɔ stif na in an ɔ leg, ɔ jɔs lɛk wud? Ɔ i tan lɛk se wan an ɔ wan fut fat pas di ɔda wan? Yu nɔ bin ebul fɔ bɛn ɔ stret yu jɔyn fayn fayn wan frɔm we yu smɔl ɛn yu bin de fil pen? Dis nɔto jɔs random tin dɛn. Tide wi go tɔk bɔt wan bɔdi sik we nɔ kin bɔku we kin de biɛn dɛn tin ya.

Wetin na dis strenj sik (Melorheostosis)?

Fɔ tɔk am simpul wan, Mɛlɔrheostosis na wan sik we nɔ kin apin na di bon dɛn we nɔ kin apin so ɔltɛm. insay dis, nyu bon tisu de bigin fכ fכm na di כta layεr dεm na wi bon dεm, we dεn kכl di kכtikal bon dεm. Tink bɔt am lɛk we wi ad ɔda layt plasta na wɔl, ɛn mɔ bon kin fɔm pan wan pan wi bon dɛn. So wetin kin apin da tɛm de? Da bon de de tik mɔ ɛn mɔ.

Bɔku tɛm, i kin afɛkt wan say na di bɔdi, ilɛksɛf na wan an ɔ wan leg. Bɔt i kin afɛkt ɔda bon dɛn bak lɛk di hip ɔ di sternum. Bɔku tɛm di sayn dɛn kin bigin we dɛn smɔl ɔ we dɛn yɔŋ .

Wan ɔda spɛshal tin bɔt dis na di we aw dis bon we dɛn jɔs dɔn mek kin luk pan ɛkstrem rayt. Dɔktɔ dɛn se i tan lɛk se waks we dɔn mɛlt frɔm kandul dɔn lik ɛn i de drɔp . Na dat mek dɛn kin kɔl am bak di ‘dripping candle wax’ luk. I rili strenj, nɔto so?

Meloriostosis na rili wan kayn skel displasia. Dɛn kin kɔl am bak Leri sik.

Aw di nem "meloriostosis" kam?

Di wɔd ‘Melorheostosis’ kin tan lɛk se yu de twist yu tɔŋ smɔl we yu yɛri am, nɔto so? Bɔt we yu dɔn no wetin dis nem min, yu kin gɛt sɔm aidia bɔt dis sik. Dɛn mek dis nem bay we dɛn jɔyn tri wɔd dɛn na di Grik langwej. Lɛ wi si wetin dɛn bi?

• Di wɔd ‘Melos’ min an ɔ fut , dat na wan pat pan wi bɔdi.
• ‘Rheos’ min flɔ . Lɛk riva we de flɔd.
• ‘Ostosis’ min fכmכshכn fכ bon .

Naw yu ɔndastand, nɔto so? We dɛn put dɛn tri wɔd ya togɛda, di nem de sho di kayn we aw bon dɛn de mek, lɛk di waks we de kɔmɔt na kandul we wi bin dɔn tɔk bɔt. Na nem we rili fit, nɔto so?

Aw meloriostosis kin afɛkt di bɔdi?

If yu ɔ yu pikin gɛt meliorostosis, di bon dɛn we tik we nɔmal ɛn we dɔn big kin mek yu nɔ ebul fɔ muv. Fɔ ɛgzampul, yu nɔ go ebul fɔ es yu an fayn ɔ bɛn ɔ stret yu leg fayn. Yu kin gɛt di jɔyn dɛn bak we nɔ fayn (kɔntrakt). Dis min se wan jɔyn kin lɔk na in ples. Sɔm pipul dɛn kin fil bad bad wan.I pɔsibul se i go apin.

Apat frɔm dɛn chenj ya na di bon dɛn, yu kin si bak chenj dɛn na di skin . Di skin kin tik ɔ i kin tan lɛk se dɛn dɔn polish am.

di bεst pat na dat meloriostosis nכ de spre frכm wan bon to כda wan. Dis min se if i de na wan an, i nɔ go skata to di ɔda an. Bɔt, de sik kin wɔs smɔl as tɛm de go. Dis min se di pen kin bɔku ɛn di muvmɛnt kin smɔl.

Aw dis sik kin bɔku?

Meloriostosis na rili wan sik we nɔ kin apin so ɔltɛm. So rare, dat masta sabi bukman dɛn se dis sik kin apin to lɛk wan pan ɛvri milyɔn pipul dɛn ɔlsay na di wɔl. Dat min se ivin na Sri Lanka, dɛn sik pipul ya nɔ bɔku.

Wetin mek dis meloriostosis kin apin? Wetin na di kɔz?

Yu go sɔprayz fɔ yɛri dis. Fɔ sɔm pipul dɛn, lɛk wan pan ɔl tu pipul dɛn, we kin gɛt dis sik, di tin we kin mek dɛn gɛt dis sik na we dɛn kin chenj dɛn jɛnɛtiks. wi gεt wan jin we dεn kכl `MAP2K1` na wi bכdi. Dis jin de mek wan spɛshal prɔtin we de kɔntrol aw wi bon sɛl dɛn de gro. so, if chenj de, dat na, `mכteshכn`, insay dis `MAP2K1` jin, dis kכndishכn fכ meloriostosis kin apin.

di imכtant tin na dat dis jεnεtik vεryush כn de apin `sporadically`. Dat min se, i nɔto sɔntin we mama ɛn papa gɛt. Jɔs tink se, lɛk lɔtri, dis we aw pɔsin kin chenj in jɛnɛtiks kin apin to pɔsin bay chans.

כltu, nכto כlman we gεt meloriostosis gεt dis `MAP2K1` jin mכtεshכn. Ɔda pipul dɛn de we gɛt dis sik we nɔ gɛt dis jin muteshon. So pan dɛn kayn tin ya, dɔktɔ dɛn stil nɔ ebul fɔ no di rayt tin we kin mek pɔsin gɛt dis sik. Dɛn de du mɔ risach bɔt dat.

Wetin na di sayn dɛm fɔ meloriostosis?

Na lɛk wan pan ɔl tu pipul dɛn we gɛt meloriostosis kin bigin fɔ sho di sik bifo dɛn ol 20. Bɔku tɛm, dɛn sik ya kin bigin we dɛn smɔl, sɔntɛnde insay sɔm dez afta dɛn bɔn am . As tɛm de go, dɛn sayn ya kin kam tranga mɔ ɛn mɔ .

Dɛn sayn ya kin mɔs notis pan wan an ɔr leg. Bɔt nɔto ɔltɛm yu ɔ yu pikin kin gɛt dɛn sik ya bak na ɔda say dɛn lɛk di hip, di midul bon na di chɛst (sternum), ɔ di rib dɛn. Lɛ wi tek wan luk pan di men sayn dɛm:

• Pen we nɔ de dɔn: Dis min pen we de te fɔ lɔng tɛm. Dis na di men prɔblɛm fɔ bɔku pipul dɛn.
• Skin we tik ɔ we de shayn: Di skin kin tan lɛk se dɛn dɔn polish am. I kin fil bak se i tayt we yu tɔch am.
• swɛlin na yu an ɔ yu leg: Dis swɛlin kin bi bikɔs yu gɛt wata we de na yu bɔdi (ɛdima) ɔ we di limf no dɛn de swel (limfɛdima).
• Limitɛd rɛnj fɔ muv:Fɔ ɛgzampul, we yu nɔ ebul fɔ bɛn di ɛlbow ɔl ɔ yu nɔ ebul fɔ ɛkstɛnd di ni ful wan.
• di mכsul dεm we de atrofi: Di ​​mכsul dεm na di an כ leg we dεn afekt kin atrofi sכmtεm.
• Di an ɔ leg lɔng we nɔ ikwal: Wan an kin shɔt pas di ɔda wan, ɔ wan leg kin shɔt pas di ɔda wan. Dis kin ivin mek i nɔ izi fɔ waka.

Aw dɛn kin no se pɔsin gɛt meloriostosis?

Dɔktɔ dɛn kin yuz spɛshal imej tɛst fɔ no if pɔsin gɛt meloriostosis.

Sɔm pan dɛn:

• Bɔn skan: Dis kin min fɔ injɛkt smɔl doz pan wan redioaktiv tin na di bɔdi ɛn afta dat dɛn kin luk am wit spɛshal kamɛra. Dis kin mek yu ebul fɔ si klia wan ɛnitin we nɔ fayn na di bon dɛn.
• X-ray: Dis na sɔntin we yu go dɔn no. I de yuz smɔl smɔl raytin fɔ luk di bon dɛn ɛn di sɔft tisu dɛn. We yu luk pan X-ray fɔ pɔsin we gɛt meloriostosis, yu go si da "dripping wax" apinɛns we wi bin dɔn tɔk bɔt. Dis na sayn we rili impɔtant fɔ no dis sik.

Apat frɔm dɛn imej tɛst dɛn ya, sɔntɛnde dɔktɔ dɛn kin se bak fɔ tɛst pɔsin in jɛnɛtiks . Dɛn kin du dis bay we dɛn tek blɔd sɛmpul. dis jεnεtik tεst dεm de luk fכ di prεsεns fכ di MAP2K1 jin mכtεshכn we wi bin tכk bכt bifo.

Wetin na di tritmɛnt dɛm fɔ dis? Yu tink se dɛn kin mɛn am?

Fɔ tɔk tru, no mɛrɛsin nɔ de yet fɔ mɛn meloriostosis. Dis kin tan lɛk se i sɔri smɔl fɔ yɛri. Bɔt nɔ wɔri. Bɔrku tritmɛnt de wae kin ɛp yu ɛn yu pikin fɔ liv bɛtɛ layf bay wae yu kɔntrol de sik.

Dɔktɔ dɛn kin tɛl yu fɔ tek tritmɛnt dɛn lɛk dis fɔ mek yu nɔ fil pen ɛn fɔ mek yu bɔdi wok fayn:

• Fyzikal tritmɛnt: Dis kin min fɔ yuz spɛshal ɛksɛsayz ɛn tritmɛnt fɔ ɛp fɔ mek di bɔdi gɛt mɔ trɛnk ɛn fɔ mek di jɔyn dɛn muv mɔ. Fɔ ɛgzampul, if i nɔ izi fɔ yu fɔ bɛn yu an, dɛn kin tich yu ɛksesaiz dɛn we go ɛp yu.
• Occupational therapy: Dis kin ɛp fɔ mek yu gɛt fayn fayn motoka skil dɛm. Dat min se, sכm sכm wok dεm we dεn kin du wit di finga dεm, lεk fכ bכtכm, rayt, εn כda tin dεm Dɔn bak, fכ εp di pikin fכ du dεn wok dεm fכ infεdεnt, lεk fכ was εn dres, na pat pan dis tritmεnt.
• Di mɛrɛsin dɛn we dɛn kin yuz:
• Di mɛrɛsin dɛn we de mek pɔsin fil pen: Dɛn kin gi am mɛrɛsin dɛn we de mek pɔsin fil pen, lɛk di mɛrɛsin dɛn we nɔ de mek pɔsin fil pen (NSAID) fɔ mek i nɔ fil pen.
• Bisphosphonates: Dɛn kin gi dɛn tin ya fɔ mek di bon dɛn strɔng.
• Ɔpreshɔn:Sɔntɛnde, dɛn kin nid fɔ du ɔpreshɔn fɔ pul di nyu ɛkstra bon we dɔn mek ɔ fɔ mek di bon shep bak. Bɔt dɛn kin jɔs du dis if ɔda tritmɛnt dɛn nɔ de mek pɔsin fil fayn.

Impɔtant: Nɔto ɔl dɛn tritmɛnt ya fayn fɔ ɔlman. Yu dɔktɔ go disayd us tritmɛnt go fayn fɔ yu sik.

Wan we de fɔ mek di meloriostosis nɔ kam?

Dis na smɔl sɔri nyus. Bikɔs meloriostosis na sik we kin apin randomly, we min se i kin apin fɔ no rizin , nɔr kin rili du natin wae wi kin du fɔ mek i nɔr de divɛlɔp. I gɛt fɔ du wit wan jenɛtik muteshɔn, so na sɔntin we wi nɔ ebul fɔ kɔntrol.

Wetin na de tin wae dis sik kin du fɔ lɔng tɛm?

Meloriostosis nɔto kansa. So natin nɔ de fɔ wɔri bɔt. Dɔn bak, dis sik nɔ de mek yu layf shɔt. Dis na di bɛst nyus.

Bɔt dis sik kin mek di bɔdi nɔ ebul fɔ wok ɛn muv. Yu kin gɛt fɔ liv wit tin dɛm lɛk pen ɛn swel na yu jɔyn dɛm. Bɔt if dɛn gɛt di rayt tritmɛnt plan, pipul dɛn we gɛt meloriostosis kin liv fayn layf bak. Dat min se dɛn kin liv gladi at ɛn du dɛn yon wok lɛk ɔlman.

Wetin bak a fɔ aks di dɔktɔ?

If yu ɔ yu pikin gɛt sayn dɛm fɔ meloriostosis, ɔr dɛn dɔn ɔlrɛdi no se yu gɛt dis sik, i impɔtant fɔ aks yu dɔktɔ kwɛstyɔn dɛm lɛk dis:

• "Wetin na di fɔs sayn dɛm fɔ meloriostosis?"
• "Us tɛst a fɔ du fɔ no dis sik kɔrɛkt wan?"
• "Us tritmɛnt opshɔn dɛn a gɛt? Us tritmɛnt bɛtɛ fɔ mi?"
• "Wetin kin apin if a nɔ trit dis?"
• "Wetin a kin du fɔ mek mi kwaliti layf bɛtɛ wit meloriostosis?"

Aks dɛn kwɛstyɔn ya fɔ ɔndastand yu sik gud gud wan. Tɔk opin wan wit yu dɔktɔ.

Ɔda sik dɛn de we gɛt di sem kayn sayn dɛn we de sho se dɛn gɛt meloriostosis?

Yɛs, sɔm ɔda tin dɛn de we kin mek pɔsin gɛt sayn dɛn we fiba di wan dɛn we gɛt meloriostosis. Yu dɔktɔ go pul dɛn sik ya we i de du diagnosis. Sɔm pan dɛn tin ya na:

• Buschke-Ollendorff di sik we dɛn kɔl Buschke-Ollendorff
• Desmoid tumor, we gɛt di sik
• Ɛmanjiɔma we de na di bɔdi
• Ɔstiɔpati we pɔsin kin gɛt
• Osteopoikilosis we dɛn kɔl ɔstiopoikilosis
• Sklɛrodama

Dis na di rizin we mek i rili impɔtant fɔ mek dɛn no di sik kɔrɛkt wan.

Fɔ dɔn, tin dɛn we wi fɔ mɛmba

Melorheostosis na wan sik we nɔ kin apin na di bon dɛn we nɔ kin apin so ɔltɛm.dis na we nyu bon tisu de fכm pan tap di bon we de naw. Bɔku tɛm, i kin afɛkt wan an ɔ wan leg. Pan ɔl we i nɔ kin kɔmɔt na wan bon to ɔda bon, di sik kin wɔs as tɛm de go.

If yu gɛt meloriostosis, nɔ panik. Tritmɛnt dɛn de we pɔsin kin gɛt, lɛk fɔ tek mɛrɛsin, fɔ mɛn pɔsin in bɔdi, fɔ mɛn pɔsin fɔ wok, ɔ fɔ du ɔpreshɔn. Dɛn tritmɛnt ya kin ɛp yu fɔ ridyus pen, go bak to nɔmal tin dɛn, ɛn liv bɛtɛ layf. Di tin we impɔtant pas ɔl na fɔ go to dɔktɔ kwik kwik wan if yu gɛt sɔm sayn dɛn ɛn fala yu dɔktɔ in instrɔkshɔn dɛn gud gud wan.

` Meloreostosis, bon sik, bon growth, joyn pen, muvmεnt rεstrikshכn, jεnεtik mכtεshכn, pikin dεm sik dεm