Yu de wɔri bɔt yu smɔl pikin in wayt spat? Ɔ yu de wɔri se yu pikin go gɛt fit sik ɔltɛm? De tin wae kin mek pɔrsin gɛt dɛn sik ya kin bi wan sik wae nɔr kin bɔrku. Tide wi go tɔk bɔt wan pan dɛn kayn tin ya we nɔ kin apin so ɔltɛm bɔt we pɔsin kin ebul fɔ kɔntrol. Dat na di sik we dɛn kɔl tuberous sclerosis.
Fɔ tɔk am simpul wan, wetin na tuberous sclerosis?
Tuberous Sclerosis Complex (TSC) na wan jεnεtik kכndyushכn we nכ kin kכmכt na difrεn pat dεm na di bכdi, spεshal wan na di כgan dεm lεk di bren, skin, kidni, at, εn lכng. I impɔtant fɔ mɛmba se dis nɔto kansa .
Di we aw dis sik kin afɛkt ɛnibɔdi kin difrɛn bad bad wan. Sɔm pipul dɛn nɔr kin gɛt bɛtɛ sayn ɛn dɛn kin liv nɔrmal layf. Bɔt fɔ sɔm pipul dɛn, dis sik kin tranga pasmak. So, siriɔs prɔblɛm dɛn kin apin.
Dis sik kin kam smɔl smɔl as tɛm de go. Pan ɔl we sɔm sayn dɛn kin apin we i smɔl, ɔda wan dɛn kin tek lɔng lɔng tɛm fɔ sho. So, e fayn fɔ mek pɔrsin wae gɛt dis sik de ɔnda dɔktɔ in sɔpɔt ɔl in layf.
Udat dɛn kin gɛt dis sik pas ɔlman?
Dis na wan sik we dɛn bɔn wit. Bɔrku tɛm, dɛn kin no se pikin gɛt dis sik we dɛn ol lɛk 7 mɔnt. Bɔt i kin tek sɔm ia fɔ mek dɛn no di sik pan di wan dɛn we nɔ gɛt bɔku sayn dɛn. Ɛnibɔdi kin gɛt dis sik, ilɛksɛf na man ɔ uman, in kɔlɔ, ɔ in rilijɔn. Dɛn se na lɛk wan milyɔn pipul dɛn ɔlsay na di wɔl gɛt dis sik.
Wetin na di sayn dɛm wae de sho se yu gɛt tuberous sclerosis?
Bɔku tɛm, di sayn dɛm kin dipen pan di ɔgan we di lump de insay. Lɛ wi sheb dɛn sik ya to tri men kategori.
1. Simptom dɛm we gɛt fɔ du wit di bren
2. Simptom dɛm we gɛt fɔ du wit di skin
3. Simptom dɛm we gɛt fɔ du wit ɔda pat dɛm na di bɔdi
1. Simptom dɛm we gɛt fɔ du wit di bren
di tכmכro dεm we kin kכmכn pan dis sik na di bren. Pan ɔl we dɛn tin ya nɔto kansa, dɛn kin ambɔg di bren wok.
- Sik: Dis na di sayn wae kin kam pan pɔrsin ɛn denja pas ɔl. Bɔrku difrɛn kayn sik kin kam.
- di tכmכro dεm na di bren: di tכmכro dεm (Subependymal giant cell astrocytoma - SEGA) kin apin na di vεntrikl dεm na di bren. If dɛn tin ya big, wata kin gɛda na di bren, ɛn dis kin mek pɔsin gɛt wan sik we dɛn kɔl haydrosɛfalɔs.
- Divɛlɔpmɛnt dilɛys ɛn intɛlektual disabiliti: Nɔto ɔlman gɛt dɛn tin ya, bɔt sɔm pikin dɛn kin gɛt disabiliti fɔ lan ɛn dilɛys fɔ tɔk.
- Prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin de biev:Kɔndishɔn lɛk ɔtizm spɛktrum disɔda ɔ atɛnshɔn dɛfisit haypa aktiviti disɔda (ADHD) kin kam togɛda wit dis sik.
2. Simptom dɛm we gɛt fɔ du wit di skin
Bɔrku tɛm, dɛn kin no bɔt dis sik fɔs tru di sayn dɛm wae de sho se pɔrsin gɛt dis sik. Na lɛk 90% pan di pipul dɛm wae gɛt dis sik go gɛt wan ɔr mɔr pan dɛn sik ya:
| Skin ficha | Tɔk bɔt |
|---|---|
| Ash lif spat dɛn | Wait spat na di skin bikɔs melanin nɔ de. Sɔntɛnde, dɛn nɔ kin si dɛn tin ya klia wan pan pipul dɛn we gɛt fayn fayn skin. Dɛn kin shayn ɔnda spɛshal ɔltra vayolɛt (UV) layt. |
| Di fibroma dɛn we de na di fes | Smɔl rɛd bɔmp dɛn we de sho na di fes, mɔ na di sayd dɛn na di nos ɛn di chɛst. Dɛn tin ya kin gro togɛda ɛn tan lɛk big rash. |
| Shagreen pat dɛn we dɛn kin yuz | dis na spat dεm we de fכm we di fayv tisu dεm de kכmכt כnda di skin, εn dεn tik pas di skin εn lεk כrεnj pil. Dɛn kin si dɛn mɔ na di ɔda pat na di bɔdi we de dɔŋ. |
| Finga nel ɛn fut nel fibromas | sכm sכm bכmp dεm we de divεlכp rawnd כ כnda di nel dεm na di an εn fut. Bɔku tɛm, dɛn tin ya kin bigin fɔ apia we pɔsin de bɔn. |
| Kɔnfɛti mak dɛn | Rili smɔl, wayt spat dɛn we tan lɛk dɔt. Dɛn gɛt dɛn nem bikɔs dɛn tan lɛk kɔnfɛti. |
3. Kכntribyushכn dεm we de rilet to כda כgan dεm na di bכdi
- Prɔblɛm dɛn we kin apin na di kidni:Kidni ston ɔ sist kin fɔm na di kidni. Dis kin mek yu kidni nɔ wok fayn, yu bak ɔ yu bɛlɛ kin pen, ɛn blɔd kin de na di urine. Na smɔl tɛm nɔmɔ, di kidni we nɔ de wok fayn ɔ di kidni kansa (rεnal sɛl kansa) kin apin.
- Cardiac rhabdomyomas: Dɛn kin si dɛn tin ya mɔ pan yɔŋ pikin dɛn. Bɔku tɛm, dɛn kin smɔl we di pikin de gro. Bɔt sɔm big big tumbu dɛn kin mek di blɔd nɔ go na di at.
- Prɔblɛm na di yay: Pan ɔl we tumbu kin fɔm na di retina na di yay, prɔblɛm wit di yay nɔ kin bɔku.
- Di chenj dɛn we de apin na di mɔt: Yu kin notis tin dɛn lɛk smɔl smɔl bɔmp dɛn na di gɔm ɔ di ɛnamel pit na di tit.
Wetin kin mek pɔsin gɛt tuberous sclerosis?
Fɔ tɔk am simpul wan, dis kin apin bikɔs di jin dɛn chenj (myuteshɔn). Protin dεm de na wi bכdi we de kכntro di sεl dεm we de gro εn divεlכpmεnt. insay dis sik, wan difεkt de na di jin dεm we de instrכkt dεm fכ prodyuz dεn protin dεm ya (dεn kכl dεm TSC1 כ TSC2 jin dεm). Dɔn di sɛl dɛn kin gro we pɔsin nɔ ebul fɔ kɔntrol ɛn dɛn kin mek 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.
Tu we dɛn de we dis jenɛtik difrɛns kin apin:
1. Wan wan tɛm: Bɔku tɛm (lɛk tu-tɛd), dis jɛnɛtik dɛfekt na nyu tin we kin apin. Dat min se di mama ɔ di papa nɔ gɛt di sik. dis jεnεtik difεkt de apin bay chans afta di pikin bכn.
2. Inherited: Na lɛk wan-tɛd pan di kes dɛm, pikin kin gɛt di sik frɔm in mama ɔ papa we gɛt di sik.
Aw fɔ no di sik?
Dɔktɔ kin no bɔt dis sik bay we i de chɛk di sayn dɛn we de sho se i gɛt dis sik. Dɛn kin sheb dɛn sayn ya to tu kayn: "big tin dɛm" ɛn "smɔl tin dɛm."
Fɔ mek yu no di sik klia wan, tu ɔ mɔ big big sayn dɛn fɔ de , ɔ wan big sayn ɛn tu ɔ mɔ smɔl smɔl sayn dɛn .
Sɔmtɛm, bikɔs di sayn dɛm kin kam as tɛm de go, dɛn kin fɔs kɔl di sik as "pɔsibul TSC."
Sɔm pan di tɛst dɛm wae dɛn kin yuse fɔ no di sik na:
- Fɔ di bren: MRI ɔ CT skan fɔ di bren, EEG tɛst fɔ chɛk fɔ si if i gɛt sik.
- Fɔ di skin: Fɔ chɛk di skin, mɔ di Wud in lamp ɛgzamin fɔ no klia wan di wayt spat dɛn.
- Fɔ di kidni dɛn: Abdominal ultrasound ɔ MRI scan.
- Fɔ di at: Echocardiogram.
- jεnεtik tεst: blכd sεmpl kin kכnfכm if difεkt de na di TSC1 כ TSC2 jin dεm.
Yu dɔktɔ go disayd us tɛst dɛn we yu nid fɔ du bay di sayn dɛn we yu gɛt.
Wetin na di tritmɛnt dɛm fɔ dis?
Tuberous sclerosis nɔ kin ebul fɔ mɛn ɔltogɛda. Bɔt, fayn tritmɛnt dɛn de fɔ kɔntrol ɛn kɔntrol di sik dɛn. Di tritmɛnt dipen pan di kayn sik wae de kam pan pɔrsin.
- Di mɛrɛsin dɛn we dɛn kin yuz:
- Fɔ kɔntrol di sik we pɔsin kin gɛt: Difrɛn kayn mɛrɛsin de fɔ di sik we pɔsin kin gɛt.
- Fɔ mek di tumbu dɛn smɔl: Wan klas we dɛn kɔl mTOR inhibitors kin kɔntrol di we aw di tumbu dɛn de gro na di bren, di kidni dɛn, ɛn ɔda say dɛn ɛn mek dɛn smɔl.
- Ɔpreshɔn: Sɔntɛnde, dɛn kin nid fɔ ɔpreshɔn fɔ pul big big tumbu dɛn we de pwɛl di ɔgan dɛn. I impɔtant mɔ fɔ pul di tumbu dɛn we de blok di wata we de kɔmɔt na di bren.
- Dermatology tritmɛnt dɛm: Sɔm pipul kin shem wae de sho se dɛn gɛt bɔmp na dɛn fes ɛn skin. Tritmɛnt lɛk fɔ mek yu skin kɔmɔt bak wit lɛsa ɛn fɔ mek yu bɔdi wam kin mek dɛn nɔ luk fayn.
- Ɔda tritmɛnt dɛm: Tritmɛnt dɛm lɛk tɔk tɛrapi ɛn ɔkupeshɔn tɛrapi kin ɛp bak fɔ pikin dɛm wae nɔr de divɛlɔp bɛtɛ.
Wetin yu kin ɛkspɛkt we yu de liv wit dis sik?
Bɔrku pipul dɛm wae gɛt dis sik nid fɔ gɛt skan lɛk MRI at le wan tɛm ɛvri 1-2 ia, mɔ we dɛn smɔl, fɔ wach aw di tumbu dɛn de gro.
Di impak wae de sik kin difrɛn frɔm pɔrsin to ɔda pɔrsin.
- Pipul wae gɛt sɔm kayn sik wae nɔr kin fayn: De sik kin rili smɔl. Dɛn kin nid fɔ tek sɔm mɛrɛsin. Bɔt dɛn kin liv nɔmal layf we nɔ go gɛt big big prɔblɛm dɛn na dɛn layf.
- Dɛn wan wae gɛt smɔl impak: Pan ɔl wae di sayn dɛm kin mek sɔm disrɔpshɔn, dɛn kin ebul fɔ mɛn dɛn fayn fayn wan wit tritmɛnt ɛn ɔltɛm mɛdikal sɔpɔtishɔn.
- I kin afɛkt bad bad wan: Dɛn pipul ya kin gɛt siriɔs sik, dɛn kin gɛt prɔblɛm wit dɛn maynd, ɛn ɔda tin dɛn kin gɛt prɔblɛm fɔ liv dɛn wan ɛn dɛn kin nid fɔ gɛt mɛrɛsin ɔltɛm.
Ustɛm a fɔ go to dɔktɔ?
If yu ɔ yu pikin gɛt TSC, i impɔtant fɔ go to dɔktɔ ɔltɛm ɔlsay na yu layf. Dis kin ɛp fɔ no ɛn trit ɛni nyu prɔblɛm kwik kwik wan.
Ustɛm yu fɔ go na di Imejɛnsi Tritmɛnt Yunit (ETU)?
If yu sik we de te pas 5 minit (fit) ɔ we yu gɛt bɔku bɔku sik dɛn we de kam insay wan row (status epilepticus) na mɛdikal imejensi. If na so i bi, dɛn fɔ kɛr di pɔsin go na ɔspitul in Imejɛnsi Tritmɛnt Yunit (ETU) wantɛm wantɛm.
Apat frɔm dat, if yu gɛt sɔm sayn dɛn we yu dɔktɔ dɔn tɛl yu fɔ tek tɛm wit mɔ (e.g., yu ed we de at bad bad wan, yu kidni pen), go to dɔktɔ wantɛm wantɛm.
Mɛsej we dɛn kin kɛr go na os
- Tuberous sclerosis na wan sik wae de kam wit jεnεtiks, bכt bכku tεm dεn nכ kin gεt am.
- Di lumps wae kin kam pan dis sik nɔr kin gɛt kansa.
- Di sayn dɛm kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Skin rash ɛn seizure na di sayn dɛm we kin apin pas ɔl.
- Pan ɔl we dɛn nɔ go ebul fɔ mɛn dis sik ɔltogɛda, sɔm tritmɛnt dɛn de we go ɛp fɔ kɔntrol di sik dɛn ɛn liv gud layf.
- I rili impɔtant fɔ go to dɔktɔ di rayt tɛm fɔ mek dɛn chɛk yu ɛn tek yu mɛrɛsin dɛn lɛk aw dɛn tɛl yu fɔ tek.
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