Yu gɛt ɛni lumps ɔ bumps we yu nɔ no na yu bɔdi? I kin bi se na Schwannomatosis!

Sɔntɛnde, yu kin fil pen ɔltɛm na yu bɔdi we yu nɔ kin ɛksplen? Ɔ sɔntɛnde yu kin fil smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl. Pan ɔl we wi nɔ kin rili pe atɛnshɔn to dɛn tin ya, sɔntɛnde dɛn kin bi sayn fɔ wan sik we de sho se wi gɛt sik. Tide, wi go tɔk bɔt wan sik we dɛn nɔ kin yɛri bɔt, bɔt we impɔtant fɔ no bɔt. Dat na wan kכndyushכn we dεn kכl `Schwannomatosis`.

Wetin na `Schwannomatosis`? Lɛ wi ɔndastand am simpul wan!

Fɔ tɔk am simpul wan, Schwannomatosis na wan sik wae kin kam wit sɔm chenj dɛm na wi jin dɛm. dis na we di tכmכro dεm (tכmכro) de divεlכp na wi bכdi in nεv sεstem, dat na di nεv dεm. wi kכl dεn tכmכro dεm ya `schwannomas`. dis `schwannomas` dεm de divεlכp frכm wan spεshal tכp sεl we de rawnd wi nεv dεm εn de akt lεk insכlayt. dεn kכl dεn sεl dεm ya `Schwann sεl dεm`. dεn de mεntal fכ de na wi pεriferal nεv sεstem - dat na, na di nεv dεm we de kכmכt frכm di bren εn spεnal kכd, na di nεv rכt dεm, εn usay di nεv dεm de kכnekt to di mכsul dεm.

Schwannomatosis na wan sik wae kin kam wit krεse pen pan yכng pipul dεm, bitwin 20 εn 40. Na כda kayn nyurofibromatosis, we na wan grup כf tכmכro dεm we de fכm na di nεv sεstem.

Yu tink se sɔm kayn Schwannomatosis de?

Yes, sɔm men kayn Schwannomatosis de. Dɛn kin sheb dɛn tin ya akɔdin to di jɛnɛtik we de mek ɛni kayn. Dɛn kayn dɛn ya na:

• `NF2` - riletid `schwannomatosis` (dεn bin kכl am fכs `nyurofibromatosis tayp 2`).
• `SMARCB1` - we gɛt fɔ du wit `schwannomatosis`.
• `LZTR1` - we gɛt fɔ du wit `schwannomatosis`.
• `22q` - riletid `schwannomatosis` (dis de kכz fכ chenj na wan pat pan kromozom 22).
• Schwannomatosis we dɛn nɔ spɛsifa ɔda we (NOS).
• Schwannomatosis we dɛn nɔ klas ɔdasay (NEC).

Pan ɔl we i kin tan lɛk se dɛn nem ya kɔmplikt smɔl, fɔ mek dɛn put dɛn insay dis kayn we, dat kin ɛp dɔktɔ dɛn fɔ no di sik kɔrɛkt wan ɛn fɔ gi dɛn di rayt advays.

Aw rare dis kכndyushכn we dεn kכl `Schwannomatosis`?

Schwannomatosis na di fכm we nכ de fכm di nyurofibromatosis grup. Eksakt εstimat fɔ ɔmɔs pipul dɛn gɛt am kin difrɛn. sכm stכdi dεm sho se NF2-rεlatεd schwannomatosis kin afekt lεk wan pan 30,000 pipul dεm . We dɛn put di ɔda kayn dɛn togɛda, i kin afɛkt lɛk wan pan ɛvri 70,000 pipul dɛn .

Nɔto ɔlman wae gɛt schwannoma gɛt schwannomatosis. insay schwannomatosis, mכltipכl schwannomas de fכm. in jεnarכl, wan singl schwannoma kin kכmכn pas mכltipכl schwannomatosis. Dis min se i nɔ kin rili apin to bɔku pipul dɛn.

Wetin na di sayn dɛm wae de sho se yu gɛt Schwannomatosis?

Di men ɛn kɔmɔn sayn wae dɛn kin si pan dis sik na pen . dis pen de apin biכs di schwannoma tכmכro dεm de kכmprεs di nεv dεm εn di tisu dεm we de rawnd. Aw dis pen kin tan lɛk?

• E kin bi pen wae nɔr de dɔn , dat min se e kin te fɔ sɔm mɔnt, ivin sɔm ia.
• Di kayn pen kin kɔmɔt frɔm smɔl to siriɔs .
• Yu kin fil dis pen ɛnisay na di bɔdi , nɔto jɔs usay di tumbu de. Sɔntɛnde, di pen kin apin na say we nɔ gɛt natin fɔ du wit di say we di tumbu de.
• Di pen kin bɔku as tɛm de go.

Imajin, yu gɛt pen ɔltɛm we de go dɔŋ yu leg, we de kam wit yu leg. I nɔ de go ivin afta yu dɔn tek mɛrɛsin. Yu go tink se na jɔs kol. Bɔt i kin bi pen we Schwannomatosis kin kam wit.

Apat frɔm di pen, ɔda sayn dɛn kin apin dipen pan usay di tumbu de. Fɔ ɛgzampul:

• Wan tin we de mek pɔsin fil lɛk se yu de fil lɛk se yu gɛt ilɛktrik shɔk .
• Di mɔsul dɛn wik ɔ di mɔsul dɛn nɔ de wok fayn.
• yu kin fil lכmp כ swεla כnda di skin (we di tכmכro dεm dכn fכm) na di an.

Pan ɔl we dɛn sik ya kin bigin afta i ol 20 ia ɛn bifo i ol 40 ia , stɔdi dɛn dɔn sho se dɛn kin rili apin ɛni ej.

Wetin kin mek pɔsin gɛt Schwannomatosis?

di men tin we de mek Schwannomatosis na wan jεnεtik vεryכnt (mכtεshכn). dis na tru spεshal fכ di jin dεm we dεn kכl NF2, SMARCB1, כ LZTR1. dis jin dεm de na di kromozom 22 .

dis jin dεm de wok lεk `tכmכro sכpresכn`, we de kכntro di fכmeshכn fכ tכmכro dεm na wi bכdi. Dat min se dɛn jin ya de rigul ɔmɔs tɛm di sɛl dɛn fɔ gro ɛn sheb. so, if `mכteshכn` de insay wan `tכmכro supεr` jin lεk dis, wi sεl dεm nכ de gεt di instrכkshכn dεm we dεn nid fכ kכntro di sεl dεm we de gro. Dis kin mek di sɛl dɛn kin bigin fɔ gro ɛn sheb tu kwik, ɛn dɛn nɔ kin ebul fɔ kɔntrol dɛn. Na so dεn `tכmכr` dεm ya de fכm.

Sɔm kayn kes dɛm wae gɛt Schwannomatosis, dɛn nɔr kin no di rayt kɔz. dis min se di kכndyushכn kin apin ivin if dεn nכ no di jεnεtik mכtεshכn naw.

Yu tink se dis na frɔm dɛn gret gret granpa dɛn? (`Na schwannomatosis na frɔm in mama ɛn papa?`)

Sɔm kes dɛm fɔ `Schwannomatosis`I kin kɔmɔt frɔm am . Fɔ tɔk roughly, bitwin 15% ɛn 25% pan pipul dɛm wae gɛt Schwannomatosis gɛt famili histri fɔ dis sik. i de transmit insay wan כtosom dכminant patεn. Fɔ tɔk am simpul wan, if ɛni wan pan dɛn mama ɛn papa gɛt kɔpi fɔ di jin we de kɛr di chenj na di jɛnɛtiks, i go mɔs bi se di pikin go gɛt dis sik.

Bɔt bɔku pan di kes dɛm fɔ Schwannomatosis kin apin randomly . Dis min se sɔmbɔdi kin gɛt Schwannomatosis bay we i gɛt dis jɛnɛtik muteshon, ivin if nɔbɔdi na di famili nɔ bin dɔn gɛt dis sik bifo.

Wetin na di prɔblɛm dɛn we kin apin we pɔsin gɛt Schwannomatosis?

di mכtalman in schwannoma tכmכro dεm na tכmכro dεm we nכ de kεnsar, we nכ de du bad (benign tumor dεm). Dat min se dɛn nɔto kansa. Bɔt, na smɔl tɛm nɔmɔ, sɔm tumbu dɛn kin bi kansa. Na dat mek dɔktɔ dɛn de pe atɛnshɔn to dis bak.

Wan ɔda big prɔblɛm na pen we nɔ de dɔn . Dis pen wae de kɔntinyu kin gɛt bɔrku impak pan pɔrsin in maynd wɛl bɔdi. Wae e kin tranga fɔ du ɛvride woke ɛn wae dɛn nɔr kin ebul fɔ bi dɛnsɛf, tin lɛk pwɛl hat ɛn wɔri kin kam. So, bɔku pipul dɛn kin si se i fayn fɔ tɔk to pɔsin we de gi advays bɔt mɛntɛl hεlth pan dɛn kayn tin ya.

Aw dɛn kin no se pɔsin gɛt Schwannomatosis?

Dɔktɔ go no dis sik bay we i du in bɔdi ɛgzam ɛn tɛst . We dɛn de du di ɛgzam, di dɔktɔ go aks yu bɔt di sik dɛn we yu gɛt, aw lɔng dɛn dɔn de, ɛn if ɛnibɔdi na yu famili dɔn gɛt dis kayn sik.

Bikɔs di sayn dɛm fɔ schwannomatosis tan lɛk ɔda sik dɛm ɛn e kin tranga fɔ no usai de pen de kɔmɔt, sɔmtɛm i kin tranga fɔ mek dɛn no bɔt am wantɛm wantɛm. Bɔt bikɔs dɔktɔ dɛn de yuz ɔpdet krayteria fɔ no di sik naw, i izi fɔ no di kayn schwannomatosis. Fɔ ɛgzampul, fɔ mek dɛn no se yu gɛt SMARCB1-rilayt schwannomatosis, yu fɔ gɛt at le wan pan dɛn tin ya:

• at le wan schwannoma fכ de, εn wan jεnεtik tεst we dεn yuz blכd כ saliva fכ kכnfכm se mכtεshכn de na di SMARCB1 jin.
• at le tu schwannomas fכ de, εn bayopsi fכ wan pan di tכmכro dεm fכ kכnfכm se i gεt di SMARCB1 jεnεtik mכtεshכn.

Us tɛst dɛn kin yuz fɔ no if pɔsin gɛt Schwannomatosis?

Imej tɛst lɛk MRI (Magnetic Resonance Imaging) kin ɛp yu dɔktɔ fɔ fɛn schwannoma. If dɛn fɛn tumbu pan dis tɛst, yu dɔktɔ kin tek smɔl sampul pan di tumbu fɔ tɛst (bayopsi).Yu kin ɔda am. Dɔn, we yu luk di sɛl dɛn ɔnda maykroskɔp, yu go no ustɛm na di kayn tumbu. Apat frɔm dat, we yu du blɔd tɛst fɔ yu jɛnɛtiks, yu kin no bak if yu gɛt di chenj we de mek yu gɛt ɛni kayn jɛnɛtiks.

Aw dɛn kin trit Schwannomatosis?

Fɔ tɔk tru, naw nɔr gɛt mɛrɛsin fɔ Schwannomatosis, so di men gol fɔ tritmɛnt na fɔ kɔntrol di sayn dɛm .

Yu dɔktɔ kin gi yu difrɛn mɛrɛsin dɛn fɔ ɛp fɔ mek yu nɔ fil pen . Dɛn mɛrɛsin ya go dipen pan tin dɛm lɛk usay yu de fil ɛn aw i tranga.

If dɛn nɔ kɔntrol di pen wit mɛrɛsin, ɔ if di pen rili bad, yu dɔktɔ kin tink bɔt fɔ ɔpreshɔn fɔ pul di schwannoma ɔ fɔ sɛn am to klinik trial . Bɔt yu dɔktɔ go disayd if dɛn tin ya na tin dɛn we nɔ bad fɔ yu. Ɔpreshɔn kin mek di nerv dɛn pwɛl, ɛn chans de fɔ mek di tumbu dɛn gro bak afta dɛn dɔn pul am.

Wetin na di prɔgnosis fɔ pɔrsin wae gɛt Schwannomatosis?

Dis kin rili difrɛn frɔm wan pɔsin to ɔda pɔsin . I dipen pan di saiz, nɔmba, ɛn usay di schwannoma tumor dɛn de na yu bɔdi. Sɔm pipul dɛn kin gɛt jɔs sɔm, ɛn ɔda wan dɛn kin gɛt bɔku. Dɛn kin de na wan ples nɔmɔ na di bɔdi, ɔ dɛn kin skata na bɔku say dɛn. So de sik nɔr kin bi di sem fɔ ɔlman.

Di sayn we de mek pɔsin fil bad pas ɔl fɔ gɛt Schwannomatosis na pen we nɔ de dɔn . Fɔ liv wit pen, mɔ if i tranga, kin rili tranga. Dis pen kin afɛkt yu maynd ɛn bɔdi wɛl bɔdi. If de sayn dɛm fɔ Schwannomatosis de mek yu fil pwɛl hat ɔr nɔr ebul fɔ woke na yu pasɔnal ɔr soshal layf, mek shɔ se yu tɔk to dɔktɔ. If yu tɔk to pɔsin we de gi advays bɔt mental wɛlbɔdi biznɛs, dat kin ɛp bak.

Tritmɛnt dɛn de fɔ ɛp fɔ kɔntrol di sik dɛn. Bɔrku pipul kin gɛt wɛl bɔdi frɔm di sayn dɛm wae dɛn kin gɛt wit mɛrɛsin. Ɔda wan dɛn kin nid fɔ gɛt ɔpreshɔn fɔ pul di sist. Bɔt mɛmba se chans de fɔ mek di sist gro bak afta dɛn dɔn pul am.

Yu tink se Schwannomatosis kin afɛkt di layf we pɔsin de liv?

Schwannomatosis nɔ de afɛkt di layf we pɔsin de liv dairekt wan . Bɔt di pen we nɔ de dɔn ɛn ɔda sayn dɛm we i kin gɛt kin afɛkt di kwaliti fɔ liv. If yu gɛt ɛnitin fɔ wɔri bɔt dis, i go fayn fɔ mek yu tɔk to yu dɔktɔ dairekt wan. Bikɔs ɔlman in prɔblɛm difrɛn, na in nɔmɔ go ebul fɔ gi yu di nyu tin bɔt yu sik.

Ustɛm a fɔ go to dɔktɔ?

Wan pen we yu nɔ ebul fɔ fɛn rizin fɔ.If yu gɛt sayn dɛn lɛk we yu mɔsul dɛn wik , mek shɔ se yu go to dɔktɔ. Dɔn bak, if yu notis nyu lump ɔ tumbu ɛnisay na yu bɔdi, i impɔtant fɔ sho am to dɔktɔ.

If yu dɔn gɛt Schwannomatosis, mek yu dɔktɔ no if yu notis ɛni chenj na yu sik, lɛk we yu de fil pen mɔ ɛn mɔ.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

We yu go to yu dɔktɔ, i go fayn fɔ aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• Wetin a go du fɔ mek a ebul fɔ kɔntrol di pen?
• Ɛni ɔda tin dɛn de we yu kin du apat frɔm mɛrɛsin fɔ mek yu fil pen?
• Yu tink se a go nid ɔpreshɔn?
• Wetin na di sayd ɛfɛkt dɛm we di tritmɛnt kin gɛt?
• Yu tink se mi pikin dɛn go gɛt dis sik tumara bambay?

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

Fɔ liv wit de pen wae de kam wit Schwannomatosis kin rili tranga. Sɔm dez kin izi pas ɔda de dɛn. Ivin if yu gɛt plan, di pen kin fos yu fɔ put am bifo ɛn de na os fɔ rɛst. Dis kin ambɔg yu yon ɛn soshal wok. Bɔt nɔ mek Schwannomatosis kɔntrol yu layf.

Dɔktɔ kin ɛp yu fɔ fɛn di bɛst tritmɛnt plan fɔ kɔntrol yu sik dɛn. If pen we nɔ de dɔn de afɛkt yu maynd, yu kin bɛnifit bak if yu go to pɔsin we de gi advays bɔt yu maynd . Ɔpreshɔn ɛn klinik trial kin bi bak opshɔn. So, aks yu dɔktɔ wetin de fɔ ɛp yu fɔ de bifo pan di sayn dɛm fɔ Schwannomatosis. Mɛmba se nɔto yu wan de, ɛn dɔktɔ ɛn sɔpɔt grup dɛn de fɔ ɛp yu pan dis waka.

` Schwannomatosis, nyurofibromatosis, krεse pen, jεnεtik sik dεm, NF2, SMARCB1, LZTR1, nyurolכjik sik dεm