Yu dɔn yɛri bɔt wan sik we nɔ kin apin so ɔltɛm we kin mek yu bɔdi tɔn to bon? Lɛ wi tɔk bɔt Fibrodysplasia Ossificans Progressiva (FOP).

Tide wi go tɔk bɔt wan strenj ɛn rili rare kɔndishɔn. Imajin, wetin yu go du if di mɔsul dɛn na yu bɔdi, dat na di bɔdi, tɔn smɔl smɔl to bon, dat na bon? I kin wɔndaful fɔ yɛri, nɔto so? Dɛn kɔl dis sik Fibrodysplasia Ossificans Progressiva, we dɔktɔ dɛn kin kɔl FOP (Fibrodysplasia Ossificans Progressiva) . Dis rili kɔmpleks ɛn i gɛt bɔku impak. So lɛ wi tɔk bɔt am simpul wan, di we we yu go ɔndastand.

Wetin na FOP? Fɔ tɔk am simpul wan...

FOP (Fibrodysplasia Ossificans Progressiva) na wan sik we de mek pɔsin gɛt jɛnɛtiks . wetin kin apin na di mכsul dεm εn di kכnektiv tisu dεm na wi bכdi, lεk di tεndon dεm εn di ligament dεm, de tכn sכmtεm to bon. di imכtant tin na dat dis nyu bon de fכm *ausayd* wi skel. I tan lɛk sɛkɔn skel we de gro insay di bɔdi.

dis abnכmal bon fכmeshכn de limited di rεnj fכ muv di bכdi sכmtεm. As tɛm de go, i kin at fɔ waka, rɔn, ɔ jomp, ɛn i kin mek i nɔ izi bak fɔ muv di an ɛn fut dɛn. Dɛn sayn ya kin bigin we dɛn smɔl . fכs dεn kin apia na say dεm lεk di nεk εn di sכlda dεm, dεn kin spre to di lכw bכdi.

Dis sik bin kam fɔ di fɔstɛm we dɔktɔ dɛn no bɔt insay di ia 1700 ɛn 1800. leta, dεn kכl am bak "myositis ossificans progressiva" (mכsul de tכn sכmtεm to bon). Bɔt leta, di risach we dɛn bin du, mɔ di wan we Dɔktɔ Viktɔ Masiusik we de na Jɔn Hopkins Yunivasiti bin du, bin mek dɛn gi di nem Fibrodysplasia Ossificans Progressiva (Fibrodysplasia Ossificans Progressiva) , bikɔs i nɔ jɔs de afɛkt di mɔsul dɛn bɔt i de afɛkt di sɔft tisu dɛn bak. Na insay 2006 dɛn kam fɔ no di patikyula jin we de mek i chenj.

Udat kin gɛt dis sik? Aw i kɔmɔn?

FOP na sik we nɔ kin bɔku . Dɛn se dis sik kin afɛkt lɛk wan pan ɛvri tu milyɔn pipul dɛn ɔlsay na di wɔl. Dis min se na kɔntri lɛk Sri Lanka, nɔto di finga dɛn we de na wan an we ebul fɔ kɔnt dɛn sik pipul ya.

Ɛnibɔdi kin gɛt dis sik. Dis na bikɔs bɔku tɛm na nyu jɛnɛtik chenj kin mek i apin. dis min se i de kכz fכ wan chenj we de apin we di sεl dεm na di εmbrayo de sheb, pas fכ gεt am frכm di mama כ papa. Wi nɔ go ebul fɔ tɔk fɔ tru se di chenj dɛn we de apin na di jɛnɛtiks kin apin dis we. Sɔntɛnde, tin dɛm lɛk fɔ smok ɛn fɔ gɛt kemikal kin mek di risk fɔ mek yu gɛt chenj na yu jɛnɛtiks in jɛnɛral. Bɔt insay di kes fɔ FOP, bɔku tɛm na random ivin. If yu de op fɔ gɛt pikin, i go fayn fɔ mek yu tɔk to yu dɔktɔ bɔt aw fɔ gɛt kɔyl fɔ yu jɛnɛtiks fɔ lan bɔt sik dɛn we yu gɛt frɔm yu jɛnɛtiks.

Aw FOP kin afɛkt di bɔdi?

as di mכsul dεm εn di kכnektiv tisu dεm na pכsin we gεt FOP de tכn sכmtεm to bon, di muvmεnt nכ de sכmtεm.Dis sik kin bigin we pikin smɔl na di nɛk ɛn sholda ɛn smɔl smɔl i kin skata dɔŋ di bɔdi.

di imכtant tin na f כ eni kayn injuri (trauma) na di bכdi kin mek dis sik, we min se nyu bon dεm de fכm kwik kwik wan. Dis injury nɔ nid fɔ bi ɛnitin we big. I kin kam bikɔs i fɔdɔm smɔl, ɔpreshɔn, ɔr sik lɛk kol ɔr flu. na dis tεm ya, di mכsul dεm na di εria we di sik afekt kin swεla εn inflamed (myositis). Dis swel kin las frɔm sɔm dez to mɔnt.

Tink bɔt am, if smɔl pikin fɔdɔm we i de ple ɔ gɛt fiva, bɔku tɛm dɛn kin wɛl insay sɔm dez. Bɔt fɔ pikin we gɛt FOP, ivin sɔntin we smɔl lɛk dat kin mek da nyu bon fɔmɛshɔn de bigin, wan ‘flare-up’ .

Pikin dɛn kin gɛt prɔblɛm fɔ it ɛn tɔk. dis na biכs nyu bon dεm we de gro na di jaw εria de mek dεn nכ de opin dεn mכt fayn fayn wan. Dis kin mek bak pɔsin nɔ gɛt bɛtɛ it . If nyu bon dɛn de gro rawnd di rib dɛn na di chɛst, i kin mek i nɔ izi fɔ mek di lɔng dɛn blo fayn fayn wan, ɛn dis kin mek i nɔ izi fɔ blo .

Wetin kin mek pɔsin gɛt FOP?

di men kכz fכ FOP na wan mכtεshכn na di jin ACVR1 . dis ACVR1 jin de tεl wi bכdi fכ mek tayp 1 rεsεpכta dεm fכ wan protin we dεn k כl bon mכfכjεnik protin (BMP) we de insay mכsul dεm εn katilej. Fɔ tɔk am simpul wan, dis BMP de kɔntrol aw ɛn we di bon ɛn mɔsul dɛn de gro.

we mכtεshכn de apin na di ACVR1 jin, dis rεsεpכta de bi lεk layt switch we de "on" כltεm. dat min se i de stil on ivin we i fכ כf, i de kכntinyu fכ prodyuz BMP protin dεm. Dis na wetin kin mek yu gɛt di sayn dɛm fɔ FOP.

FOP na ɔtosom dכminant kכndishכn. Dis min se pikin kin gɛt di sik ilɛksɛf na wan mama ɔ papa nɔmɔ gɛt di jin we dɔn chenj. If ɛni wan pan di mama ɛn papa gɛt di jin we de mek FOP, di pikin gɛt 50% chans fɔ gɛt am.

כltu, mכst tεm, FOP de kכz fכ wan nyu mכtεshכn (`de novo mכtεshכn`) insay di `ACVR1` jin. Dis min se dis jin muteshon kin apin randomly, witout enibodi na di famili bin don get dis sik bifo.

Wetin na di sayn dɛm fɔ FOP?

di men tin we FOP de du na dat tin dεm lεk mכsul dεm, tεndon dεm, εn ligament dεm de tכn sכmtεm to bon. Dɔktɔ dɛn kɔl dis `hɛtɛrotɔpik ɔsifikɛshɔn` . dis prכsεs de stat we i sכm pikin na di nεk εn sכlda εria. Dɔn, as tɛm de go, i kin skata to ɔda pat dɛn na di bɔdi. Fɔ sɔm pipul dɛn, dis bon fɔmɛshɔn kin rili fast, fɔ ɔda pipul dɛn i kin rili slo. I kin difrɛn frɔm wan pɔsin to ɔda pɔsin.

di simptom dεm de sho insay di fכm fכ dεn wan dεm we wi bin dכn tכk bכt ‘flare-ups’.Wit. Dat min se, wit di we aw di bɔdi de ansa we sɔntin ambɔg di bɔdi (lɛk injuri, ɔpreshɔn, fiva). Dis tɛm ya, di say we di sik afɛkt kin swel ɛn i kin fil pen. biכs di `bon mכfכjεnik protin tayp 1` rεsεpכta de kכntinyu fכ mek protin dεm, nyu bon de fכm pan tap di mכsul dεm εn tεndon dεm. Afta di nyu bon dɔn fɔm, di swɛlin kin go dɔŋ. Dis kin las frɔm sɔm dez to wan mɔnt.

Ki tin: Di chenj dɛn we de apin na di big fut

Wan pan di sayn dɛm we kin sho se pɔsin gɛt FOP, we pɔsin kin si we dɛn bɔn am , na we di big fut nɔ de wok fayn . I kin shɔt pas aw i kin bi, sɔntɛnde i kin kɔba insay, ɛn i kin put am ɔp di sɛkɔn fut. Dis abnɔmal tin kin notis bifo ɔda sayn dɛm apia. Na lɛk 50% pan di pipul dɛm wae gɛt FOP kin gɛt di sem kayn abnɔmal tin dɛm bak na dɛn big fut.

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

Sɔm ɔda sayn dɛm fɔ FOP na:

• nyu bon fכmeshכn oba mכsul dεm, ligament dεm, εn kכnektiv tisu.
• di dכn mobiliti (we yu de waka pan yu bכt insted fכ krawl, di joyn dεm stiff, di joyn dεm de lכk).
• I nɔ izi fɔ it ɛn tɔk.
• I nɔ de yɛri fayn.
• Shep we nɔ kɔmɔn fɔ di big fut.
• Kɔmplit inability fɔ muv ova tɛm.
• Sɔm say dɛn na di bɔdi kin rɛd, pepul, i kin fil pen, i kin fil wam we yu tɔch am, ɛn i kin swel lɛk tumbu.
• di kכva fכ di spayna (`Scoliosis` כ `Kyphosis`).
• di sכft tisu dεm na di nεk, di sכlda dεm, εn di bak de swεla.

As di sik de go bifo, pɔrsin wae gɛt FOP kin lɔs ɔl di ebul fɔ muv . di nyu bon we de gro kin prεs pan di nεv dεm, we kin mek i fil pen εn stif. Na dis stej, di risk de fɔ mek yu gɛt infɛkshɔn na di say we yu de blo ɛn yu at nɔ de wok fayn . If tin tranga, sɔm pipul dɛn kin gɛt prɔblɛm bak fɔ tink ɛn lan .

Aw dɛn kin no FOP?

Fɔ no if pɔsin gɛt FOP kin bigin wit we dɔktɔ de chɛk in bɔdi . Dɛn go notis yu sik dɛn ɛn dɛn go rivyu yu mɛdikal histri. Apat frɔm dat, dɛn go du wan jenɛtik tɛst , we min fɔ tek blɔd sɛmpul, fɔ chɛk if di jɛnɛtik chenj we de mek pɔsin gɛt di sik. dεn kin yuz εks-ray bak fכ chεk fכ nyu bon dεm we de gro pan di mכsul dεm εn di kכnektiv tisu.

Bɔt fɔ no if pɔsin gɛt FOP kin tranga fɔ dɔktɔ dɛn. Bikɔs i nɔ kin bɔku, bɔku dɔktɔ dɛn nɔ kin si pɔsin we gɛt am na dɛn layf. Dis kin mek sɔm tɛm dɛn kin mistek kɔl di FOP simptom dɛm fɔ ɔda tin dɛm, lɛk kansa, juvenile fibromatosis (we de gro pan sɔft tisu ɔ skin lɛsin dɛm), ɔ fibrous dysplasia (wan kayn bon we de gro).

I rili impɔtant: Ivin if wan lump na FOP tan lɛk tumor, i nɔ fayn fɔ tek sampul (bayopsi) pan am.. Bikɔs if yu du dat, i kin mek di sik wɔs ɛn i kin mek yu gɛt nyu bon fɔmɛshɔn (flare-ups). bayopsi fכ FOP tכmכro kin luk lεk kεnsar tכmכro sכmtεm.

fכ dat, tu pan di men tin dεm fכ no di FOP kכrekt wan na di abnכmaliti na di big fut dεm εn di sכft tisu swel we de apin na difrεn pat dεm na di bכdi.

Wetin na di tritmɛnt dɛm fɔ FOP?

No mɛrɛsin nɔ de fɔ FOP. Bɔt di tritmɛnt dɛn de fɔ kɔntrol di sik dɛn, mɔ di flawa we kin apin we bon dɛn bigin fɔ mek. Risach ɛn klinik trial dɛn de go bifo. Di tritmɛnt we dɛn kin pik kin difrɛn frɔm wan pɔsin to ɔda pɔsin, i kin dipen pan di patikyula sayn dɛn we pɔsin gɛt.

Sɔm pan di tritmɛnt dɛm wae dɛn kin yuse fɔ FOP na:

• Gɛt sɔshal, saykolojik, ɛn wɛlbɔdi sɔpɔt ɛn jɛnɛtik advays .
• Fɔ tek pat pan ɔkupeshɔn tɛrapi fɔ ɛp wit di tin dɛn we yu nid fɔ du wit yu bɔdi.
• Fɔ tek antibayɔtik (as dɔktɔ tɛl yu) fɔ mek yu nɔ gɛt infɛkshɔn na di say we yu de blo.
• Yuz mεdikeshכn (e.g. kכtikostεroyd , nכnstεroyd anti-inflammatory mεdikeshכn , mכsul rilaksant) fכ ridyus di swel εn pen we yu de fכm.
• Yuz tin dɛn we de ɛp pɔsin fɔ muv (e.g., wilchia).
• Sɔntɛnde, i kin wɛr bres.

Aw fɔ ridyus di flare-up dɛn?

Fɔ mek di FOP simptom dɛn nɔ flay, i impɔtant fɔ avɔyd fɔ pwɛl di mɔsul ɛn tisu dɛn . Dɛn flawa ya kin apin we di bɔdi gɛt sɔntin we de mek i strɛs (ɔpreshɔn, injuri, sik). Yu kin du dɛn tin ya fɔ ridyus yu risk:

• Nɔ mek tin dɛn we yu go wund, fɔdɔm, ɔ brok yu bon. Yu fɔ tink ɔltɛm bɔt sef.
• we yu de gεt vaksin, gεt injεkshכn insay di fεt tisu כnda di skin (subkutan injεkshכn) insted fכ injεkshכn insay di mכsul dεm. Tɔk to yu dɔktɔ bɔt dis.
• Nɔ du bayɔpsi ɔ tɛst we de pul di tisu fɔ no di sik. Aks yu dɔktɔ bɔt ɔda tɛst dɛn we yu go du.
• We yu de trit yu tit, nɔ trak pasmak pan di jaw eria ɛn nɔ tek lokal anestetik injɛkshɔn as yu ebul. Dɛn fɔ tɛl di dɛntist bɔt dis.
• Tek step fɔ protɛkt yusɛf frɔm vayral sik dɛm lɛk flu ɛn kol.

Yu tink se dɛn kin ebul fɔ stɔp FOP ɔltogɛda?

Bikɔs FOP na bikɔs ɔf wan jenɛtik muteshɔn, dɛn nɔ go ebul fɔ stɔp am kpatakpata . Fɔ ɔndastand di prɔblɛm we pikin kin gɛt we i gɛt jɛnɛtik sik, yu kin tɔk to yu dɔktɔ bɔt aw fɔ tɛst in jɛnɛtiks.

Wetin yu kin ɛkspɛkt we yu de liv wit FOP?

FOP na wan sik we pɔsin kin gɛt fɔ ɔl in layf, we nɔ go ebul fɔ mɛn . Di prɔgnosis nɔr fayn bikɔs ɔf di siriɔs simptom dɛm fɔ di sik, mɔr di infεkshɔn dɛm we de na di rεspiretεri ɛn di prɔgrɛsiv lɔs fɔ muv. Di layf we pɔsin we gɛt FOP kin liv kin ridyus to yɔŋ pɔsin. We bɔku pipul dɛn ol 30 ia, dɛn nɔ kin ebul fɔ muv atɔl . Infεkshכn we de na di rεspiretכri na di big tin we de mek FOP pasεnshכn dεm day.

Bɔt, risach ɛn klinik trial dɛn de kɔntinyu fɔ fɛn nyu tritmɛnt dɛn, ɛn dɛn tritmɛnt ya de gi op.

Aw yu de kia fɔ yusɛf?

Afta dɛn dɔn no se yu gɛt FOP, yu go nid fɔ woke klos wit yu dɔktɔ fɔ mek wan tritmɛnt plan we go fayn fɔ yu ɛn yu sik dɛn. Wan pɔsin we de advays yu bɔt yu jɛnɛtiks kin ɛp yu fɔ ɔndastand di sik ɛn gi yu ɛn yu famili pan aw fɔ fil. Flare-up kin mek yu fil pen ɛn nɔr kin fil fayn. Bɔt yu dɔktɔ kin tɛl yu aw fɔ kɔntrol dɛn sik ya.

Ustɛm yu fɔ go to dɔktɔ?

Yu fɔ go to dɔktɔ if:

• If bad bad pen de .
• If di swɛlin nɔ go dɔŋ.
• If yu nɔ ebul fɔ muv, yu jɔyn dɛn kin stif, ɔ yu jɔyn dɛn kin stɔp.
• If yu nɔ ebul fɔ it.

IMPƆTANT: If i nɔ izi fɔ yu fɔ blo , kɔl 1990 wantɛm wantɛm ɔ go na di imejensi rum we de nia yu.

Kwɛstyɔn dɛn we yu fɔ aks yu dɔktɔ

We yu gɛt wan rare diagnosis lɛk dis, yu kin wɔnda, "Wetin a fɔ du naw?" Yu dɔktɔ go de wach yu wɛlbɔdi ɔltɛm ɛn gi yu di sɔpɔt we yu nid.

Yu kin aks yu dɔktɔ kwɛstyɔn dɛn lɛk:

• Us divays ɛn tul dɛn de fɔ mek a ebul fɔ muv fɔ ɛp mi fɔ du di wok dɛn we a de du ɛvride?
• Us mɛrɛsin yu kin advays fɔ ridyus di swel ɛn inflamɛns?
• Aw a go ebul fɔ kɔntrol di pen we kin kam wit mi sik dɛn?

Dɛn kin rifer yu bak to pɔsin we de advays yu bɔt yu jɛnɛtiks ɔ pɔsin we de mɛn yu wok. Dɛn kin ɛp yu fɔ ɔndastand aw yu gɛt di sik, fɔ mek yu nɔr gɛt bɔku bɔku sik, ɛn fɔ liv fayn layf.

Sɔma: Lɛ wi mɛmba!

FOP na wan kɔndishɔn we rili kɔmpleks ɛn we nɔ izi fɔ du. Bɔt i impɔtant fɔ no bɔt am, no di sayn dɛn kwik kwik wan, ɛn go to dɔktɔ ɛn sɔpɔt di rayt we.

• FOP na wan sik we nɔ kin apin so ɔltɛm we di mɔsul ɛn di kɔnektiv tisu kin tɔn to bon.
• wan men tin na di abnכmal we di big fut de de we dεn bכn am.
• Eni damej pan di bodi (injuri, sik) kin mek ‘flare-ups’, so i rili impɔtant fɔ tek tɛm.
• Bayopsi tɛst nɔ fayn fɔ dɛn sik pipul ya.
• Pan ɔl we no mɛrɛsin nɔ de fɔ mɛn am, tritmɛnt dɛn de fɔ kɔntrol di sik dɛn ɛn fɔ mek in layf bɛtɛ. Risach de go bifo.
• If yu ɔ pɔsin we yu sabi gɛt dɛn sik ya, go to dɔktɔ wantɛm wantɛm.

A op se dis infɔmeshɔn go ɛp yu. Mɛmba se nɔto yu wangren de. Mek yu fɛn di trɛnk fɔ bia wit dis prɔblɛm wit di rayt infɔmeshɔn ɛn sɔpɔt!

` FOP, Fibrodysplasia Ossificans Progressiva, Jɛnɛtik Sik, Bɔn, Mɔsul, Rare Sik, ACVR1