Wetin na Turcot Syndrome? Yu tink se i go afɛkt yu? Lɛ wi tɔk ditayli!

Yu dɔn ɛva yɛri bɔt wan sik we nɔ kin bɔku we pɔsin kin gɛt? Sɔntɛnde, wi bɔdi kin gɛt prɔblɛm dɛn we wi nɔ kin ivin no se wi gɛt. Tide, wi go tɔk bɔt wan pan dɛn kayn tin ya we nɔ kin apin so ɔltɛm we rili impɔtant fɔ no bɔt. Dɛn kɔl am Turcot Syndrome.

Wetin na Turcot Syndrome simpul wan?

Fɔ tɔk am simpul wan, Turcot Syndrome na wan sik we nɔ kin apin so ɔltɛm. i kin min f כ mek sכm sכm tin dεm we de gro (dεn kכl dεm bak polip) na wi dijestiv sistεm, dat na, na di intestines, εn tכmכro dεm na di bren כ spεnal kכd. Imajin aw i kin vɛks fɔ gɛt prɔblɛm na tu ples wan tɛm.

we dεn sכm sכm tin dεm ya we de gro (polyps) de fכm na di intestinal, sכm pipul dεn kin gεt sכmtεm dεm lεk we dεn de bכn na di rεktal bכdi, we dεn de muv bכku bכku bכku bכku bכku wan dεm (diariya), εn bεlε kramp . Dɔn bak, i kin dipen pan di sayz ɛn usay di tumbu de na di bren ɔ spɛshal kɔd , di nyurolɔjik simptom dɛn lɛk ed we de at, we yu nɔ de si fayn, we yu nɔ de balans, ɛn we yu de fɔdɔm ɔltɛm kin apin.

Sɔm pipul dɛm wae de stɔdi bɔt mɛrɛsin biliv se Turcot Syndrome kin bi wan kayn famili Adenomatous Polyposis (FAP). Bɔt, dɛn nɔ pruv dis yet. FAP na kכndyushכn bak we bכku sכm sכm sכm polip dεm de divεlכp na di kכlon bifo kεnsar de divεlכp. i kin bi se kכnεkshכn de bitwin di tu, as sכm Turcot Syndrome pasεn dεm gεt mכtεshכn na di APC jin. di mכtayshכn dεm na di APC jin kin mek FAP bak.

Dis nɔ kin apin so ɔltɛm dat na smɔl pipul dɛn nɔmɔ we gɛt di sik, we na lɛk 150, dɛn dɔn ripɔt na di mɛdikal rɛkɔd dɛn ɔlsay na di wɔl. So yu kin imajin aw dis nɔ kin apin so ɔltɛm.

Dis na sik we pɔsin kin gɛt frɔm in mama ɛn papa? Aw pɔsin kin gɛt am?

Yɛs, Turcot Syndrome na wan sik we dɛn kin gɛt frɔm dɛn mama ɛn papa, we min se i kin pas frɔm mama ɛn papa to pikin dɛn tru di jin . Na sɔm chenj dɛn ɔ chenj dɛn we de apin na wi jin dɛn kin mek i apin. I kin afɛkt wi pan tu men we dɛn:

1. Tayp 1 Turcot Syndrome: Dɛn kin kɔl dis bak "tru" Turcot syndrome. i de inhεrit as כtosom rεsεsiv trayt. Fɔ tɔk am simpul wan, fɔ mek pikin gɛt dis sik, in mama ɛn papa ɔl tu fɔ gɛt di jin we de chenj. I tan lɛk se yu win di lɔtri (bɔt dat nɔto gud tin!). dis tכp kin kכz mכst bay mכtεshכn dεm na di jin dεm `(MLH1)` εn `(PMS2)`.

2. Tayp 2 Turcutt Sindrom: .dis de inhεrit as ``autosomal dominant trait.`` dat min se, pikin kin gεt dis sik ivin if dεn inhεrit di rilevεnt jin mכtεshכn frכm wan mama εn papa nכmכ, we na di mama כ di papa. dis de kכz fכ chenj na di ``(APC)`` jin. di wok we dis ``(APC)`` jin de du na fכ mek di kεnsar tכmכro dεm nכ fכm na wi bכdi כ fכ stכp dεm fכ gro. So we da jin de nɔ de wok fayn, prɔblɛm dɛn kin kam.

Wetin na di men sayn dɛm fɔ dis sik?

di men sayn dεm fכ Turcot Syndrome na, lεk aw wi bin dכn tכk , polyp dεm na di intestines εn wan כ mכr tכmכro dεm na di bren כ spεnal kכd. Sɔm pipul kin gɛt dɔzɛn pan dɛn polyp ya, we min se dɛn kin bigin fɔ divɛlɔp we dɛn rili yɔŋ.

di simptom dεm fכ sכm sכm gro (polyps) dεm na di intestכn dεm

di nכmba fכ dεn sכm sכm growth dεm (polyps) we de divεlכp pan pכsin kin difrεn frכm pכsin to pכsin.

• Dɛn polyp ya we kin kam pan pipul dɛm wae gɛt Type 1 Turcotte syndrome kin gɛt kansa.
• Pipul dεm we gεt Tayp 2 Turcotte syndrome kin gεt di kכndyushכn we wi bin dכn tכk bכt ``Familial Adenomatous Polyposis (FAP)``.

dis sכm sכm tin dεm we de gro (intestinal polyps) we de fכm na di intestinal kin mek yu gεt simptom dεm lεk:

• Pɔsin we de fil pen na di bɛlɛ
• Banbɛlɛ
• Rɔnbɛlɛ
• Blɔd we de kɔmɔt na di rɛktɔ
• We yu de lɔs yu wet, dat na fɔ lɛf yu wet

Simptom dɛm fɔ Bren/Spinal Kɔd Tumɔs

di tכmכro dεm we de divεlכp na di bren כ di spεnal kכd kin afekt wi sεntri nεv sεstem (CNS). di sεntri nεv sεstem na di sistεm we de kכntro plεnti pan di bכdi in wok dεm, inklud di bren εn di spεnal kכd. Dis kin mek yu gɛt sɔm kayn sik lɛk:

• Lɔs pan balans, fɔdɔm ɔltɛm (Balance problems) .
• Di ed we kin at bad bad wan
• Lכs fכ sεns - yu de sכmtεm na di an, di lεg, כ pat dεm na di bכdi
• Nɔs ɔ vɔmit
• Di sik dɛn we kin mek pɔsin sik
• Prɔblɛm fɔ si, lɛk fɔ si tu tɛm ɔ fɔ si we i nɔ de si fayn
• Fɔ fil lɛk wan say na yu bɔdi (fɔ ɛgzampul, wan an, wan leg, ɔ wan say na yu bɔdi) go mek yu nɔ gɛt bɛtɛ trɛnk (Wiknɛs na wan pat na yu bɔdi) .

Ɔda kwaliti ɛn kayn kansa wae gɛt mɔr risk

Sɔntɛnde, pipul dɛn we gɛt Turcot Syndrome kin gɛt fat tumor (lipomas) we nɔ gɛt kansa ɔ smɔl brawn spat (café-au-lait spot) na dɛn skin .

Apat frɔm dat, dis sik kin mek pɔsin gɛt sɔm kayn kansa ɛn tumbu. Di men wan dɛn na:

• Kansa na di kɔlon
• Astrocytoma (wan kayn tumbu we de na di bren) .
• Ependymoma (na wan kayn tכmכro we de stat na di sεl dεm we de layn di spεs dεm we fulכp wit wata na di bren εn di spεnal kכd) .
• Glioma (tכmכro dεm we de kכmכt frכm di sכpכt sεl dεm na di bren) .
• Glioblastoma (na wan kayn kansa na yu bren we kin rili bad) .
• Medulloblastoma (na wan kayn kansa we de kam na di sεribεl, dat na di lכw pat na di bren nia di sכkul) .
• Basal sel kansa na di skin

Aw dɛn kin no dis sik? (Diagnosis) .

Fɔ no if yu gɛt Turcot Syndrome, yu dɔktɔ go du bɔku tɛst dɛn, mɔ fɔ luk yu bren ɛn di say dɛn we de rawnd yu insay. Fɔ dis:

• Dɛn kin du tɛst lɛk ɛkstrem rayt, MRI, ɛn CT skan fɔ luk fɔ di bren tumbu ɔ di intestinal polyp. Insay sɔm spɛshal kes dɛn, dɛn kin advays bak fɔ mek dɛn du PET skan.
• Kolonoskopi: dis na fכ put wan sכmכl tiub we gεt layt tru di an fכ egzamin insay di big intestin εn rεktum fכ eni abnכmaliti.
• Bayopsi tɛst: If dɛn si tumbu na di kɔlon ɔ di bren, dɛn kin tek wan smɔl pat pan di tisu ɛn chɛk am ɔnda maykroskɔp.

Di tin we impɔtant pas ɔl na dat, if wan pan yu mama ɛn papa gɛt Turcot Syndrome, i go mɔs bi se dɛn go chɛk yu fɔ di sik.

If na so i bi, di dɔktɔ kin tɛl yu fɔ du tin dɛn lɛk:

• DNA tεst: Dis jεnεtik tεst kin no di prεsεns fכ mutated jin dεm we de mek Turcotte sεndrכm.
• Sigmoidoscopy: dis de egzamin di lכw pat pan di big intestin (di sigmoid kכlon). Yɔŋ pipul dɛm wae dɔn gɛt wan jin fɔ Turcotte syndrome kin kɔntinyu fɔ gɛt kɔlon ɛgzam te dɛn ol lɛk 35 ia. dis de alaw fכ no kwik kwik wan εn trit sכm sכm sכm gro (polyps) dεm na di kכlon.

Wetin na di tritmɛnt fɔ Turcot Syndrome?

Di tritmɛnt fɔ Turcot Syndrome kin difrɛn difrɛn wan bay di sayn dɛm.

Yu kin nid fɔ gɛt polypectomy fɔ pul smɔl smɔl tin dɛn we de gro (polyps) na yu kɔlon. Yu dɔktɔ kin tɛl yu bak fɔ du bɔku ɔpreshɔn fɔ mek dɛn nɔ gɛt dɛn tin ya we de gro igen. Fɔ ɛgzampul:

• `Ileoproctostomy`: dεn de pul di big intestכn εn di rεktum εn di sכmכl intestin de kכnekt.
• `Ileostomi`: .di rεktum dεn de pul di rεktum εn di sכmכl intestin de kכnekt to di כdasay na di bכdi (fכ gi wan sεparat we fכ di stכl pas kכmכt).
• `Ileoanal anastomosis`: i de kכnekt di sכmכl intestin εn di anus.
• Kɔlektɔmi: Dɛn kin pul wan pat ɔ ɔl di kɔlon.
• `Proctocolectomy`: dεn de pul di kכlon εn di rεktum כl tu.

di tritmεnt fכ tכmכro dεm na di bren כ spεnal kכd kin difrεn. Bɔku tɛm, dɔktɔ dɛn kin tray fɔ pul di tumbu. We dɛn de trit am, dɛn kin tray fɔ mek di wɛlbɔdi tisu we de rawnd am nɔ pwɛl bɛtɛ. Fɔ du dis:

• `Kimotɛrapi`
• Redyushɔn tɛrapi
• Ɔpreshɔn

Di we aw dɛn kin trit am lɛk:

A de pan denja bak fɔ gɛt dis sik?

If wan pan yu mama ɛn papa gɛt Turcot Syndrome, yu gɛt chans fɔ gɛt dis sik. Ɔ, yu kin bi pɔsin we gɛt jɛnɛtiks. Fɔ bi jɛnɛtik kariɔ min se yu nɔ gɛt di sik, bɔt yu gɛt di jin we de mek yu gɛt di sik, so yu pikin dɛn kin pas am.

If yu tink se yu kin gɛt Turcot Syndrome, yu dɔktɔ kin tɛl yu fɔ du DNA tɛst. dis kin chεk fכ di prεsεns fכ di rilevεnt jin mכtεshכn.

Wetin kin apin wae yu de liv wit dis sik? Yu tink se i nɔ go ebul fɔ mɛn am?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ di Turcot Syndrome. If yu gɛt dis sik, di tin we impɔtant pas ɔl na fɔ wok wit yu dɔktɔ fɔ mek dɛn de chɛk yu ɔltɛm fɔ si if yu gɛt bren tumbu ɛn kɔlorektal kansa. Di kwik we yu no sɔntin lɛk kansa, na di mɔ yu chans fɔ gɛt sakrifays. So, i impɔtant fɔ mek yu nɔ panik ɛn fala yu dɔktɔ in advays.

Impɔtant kwɛstyɔn dɛn fɔ aks yu dɔktɔ

Yu kin aks yu dɔktɔ sɔm kwɛstyɔn dɛn lɛk dɛn wan ya:

• Wetin na di tin we kin mek a gɛt dis sik?
• Us tɛst a fɔ du fɔ no fɔ tru if a gɛt Turcot Syndrome?
• Mi na pɔsin we de kɛr di jin fɔ dis sik?
• Wetin na di tritmɛnt opshɔn dɛm fɔ Turcot Syndrome?
• Wetin kin apin if a nɔ gɛt tritmɛnt?
• Wetin na di chans fɔ mek a gɛt pikin we gɛt Turcot Syndrome?

Mɛmba se, di tכmכro dεm na di bren lεk glioblastoma nכ kin kכmכt frכm bכdi. Bɔt sɔmtɛm pipul dɛm wae gɛt dis sik wae dɛn kin gɛt frɔm dɛn mama ɛn papa lɛk Turcot Syndrome kin gɛt dɛn tumor ya sɔmtɛm.

Fɔ dɔn, na sɔm tin dɛn we wi fɔ mɛmba

Turcot Syndrome na wan sik we nɔ kin apin so ɔltɛm, we kin mek smɔl smɔl tin dɛn we de gro na di intestinal (polyps) ɛn di tכmכro dεm na di bren כ di spεnal kכd. Di tritmɛnt kin difrɛn difrɛn wan bay di sayn dɛm. Yu kin nid ɔpreshɔn fɔ pul wan pat pan yu insay ɔ wan tumbu na yu bren ɔ yu spɛnal kɔd. Pan ɔl we no mɛrɛsin nɔr de fɔ dis sik, fɔ wach yu sik, fɔ du tɛst ɔltɛm , ɛn fɔ gɛt tritmɛnt kwik kin ɛp yu fɔ kɔntrol yu sik. So, i impɔtant fɔ tek kia ɔf yu wɛlbɔdi biznɛs.

Turcot Syndrome, jεnεtik sik dεm, intestinal polyp, bren tכmכro, kansa risk, jεnεtik tεst