Yu dɔn ɛva notis se wan pat pan yu smɔl pikin in bɔdi, sɔntɛm in an, in leg, ɔ in finga, big pasmak we yu kɔmpia am to di ɔda pat dɛn na dɛn bɔdi? Ɔ yu dɔn ɛva notis sɔntin we strenj, lɛk big mol na dɛn skin ɔ blɔd vesel dɛn we tan lɛk? Na nɔmal tin fɔ mek ɛni mama ɔ papa fil wɔri we dɛn si tin dɛn lɛk dis. Tide wi de tok bɔt wan grup fɔ rare kɔndishɔn wae kin mek dɛn tin ya. Dɛn kɔl am PROS, ɔ PIK3CA-Related Overgrowth Spectrum.
Mek wi ɔndastand gud gud wan wetin na PROS ɛn PIK3CA.
Fɔs, PROS nɔto wan sik. Na spɛktrum fɔ sɔm difrɛn kɔndishɔn dɛn. Ɔl dɛn tin ya gɛt wan tin we fiba. dat min se sכm pat dεm na di bכdi kin big pasmak (dεn kin gro pasmak) כ divεlכp to wan abnכmal shep.
Naw lɛ wi si wetin mek dis kin apin. di men rizin fכ dis na chenj, dat na mכtεshכn, insay di jin we dεn kכl `PIK3CA` insay wi bכdi.
Fɔ tɔk am simpul wan, wi bɔdi tan lɛk big faktri. Wan sɛt fɔ instrɔkshɔn dɛn de we se ɔltin na dis faktri fɔ du rayt. `PIK3CA` na imכtant jin we de gi dεn kayn instrכkshכn dεm ya. Na di wan we de tɛl wi sɛl dɛn se, "Okay, naw yu de sheb," "Naw yu de gro," "Okay, naw yu tɛm dɔn, day."
כltu, if wan lεta na di instrכkshכn buk fכ dis `PIK3CA` jin nכ rayt, dat min se if mכtεshכn apin, di mεsej dεm we dεn sεl dεm de gεt de kכnfyus. Dɔn sɔm sɛl dɛn kin sheb tu kwik, ɔ dɛn nɔ kin day we dɛn fɔ day. Na da tɛm de wi kin si di say dɛn we dɛn sɛl dɛn de de gro pasmak, dat na, na say dɛn lɛk di skin, di blɔd vesel dɛn, di bon dɛn, di fat tisu ɛn di bren .
Wan rili impɔtant pɔynt de we yu fɔ mɛmba na ya. PROS nɔto sik we pɔsin kin pas frɔm mama ɔ papa to pikin. Dis min se if yu gɛt dis sik, yu pikin nɔ go gɛt am, ɛn if wan pan yu pikin dɛn bin gɛt am, ɔda pikin dɛn nɔ go gɛt am. dis jεnεtik chenj nכ de apin na כl di sεl dεm na di pikin in bכdi, bכt na sכm sεl dεm nכmכ. So nɔ fred dis we yu nɔ nid fɔ fred.
Difrɛn mɛdikal kɔndishɔn dɛn we kin kam ɔnda PROS
Sɔntɛnde, dɔktɔ dɛn go no dairekt wan sik wit PROS. Ɔda tɛm, dɛn go nem wan patikyula mɛdikal kɔndishɔn (syndrom) we de ɔnda di PROS ambɔla. Sɔm pan dɛn tin ya de na di tebul we de dɔŋ ya.
| Nem fɔ di sik (Syndrome) . | Men ficha ɛn diskripshɔn |
|---|---|
| Fibroadipose haypaplasia we pɔsin kin gɛt | pan dis kכndyushכn, we di fεt tisu, fayv tisu, כ blכd vεsul dεm de gro pasmak, i de mek tin dεm we lεk lכmp fכm na di limb dεm כ כda pat dεm na di bכdi. As tɛm de go, dɛn tin ya kin gro ɛn ambɔg di we aw i de waka ɛn muv. |
| CLOVES sindrom we gɛt di sik | Dɛn pul di nem frɔm di fɔs lɛta dɛn we de sho di sik. C - Kongenital (we de de frɔm we dɛn bɔn am), L - Lipomatous (we gɛt fɔ du wit fat - bɔku pikin dɛn kin si sɔntin lɛk fat lump), O - Ɔva gro (we de gro pasmak), V - Vascular malformations (abnɔmal blɔd vesel - lɛk bɔn mak, spayda vein), E - Epidermal nevus (wan kayn mol we de apia na di skin), S - Spinal/Skeletal (prɔblɛm wit di spayna ɔ bon dεm - fכ egzampl bak pen). |
| Megalɛnsɛfali-kapilari malfɔmeshɔn (MCAP) sindrom | Di bren, di blɔd vesel dɛn, ɛn di tin dɛn we de na di fes kin gro pasmak. dis pikin dεm kin gεt dilay fכ divεlכpmεnt εn di finga dεm we shep nכmal. |
| Hεmihaypaplasia-mכltipכl lipomatosis (HHML) sεndrכm | Bɔku tɛm, i kin afɛkt di we aw di an ɛn di fut dɛn de gro. fεt tכmכro dεm we de gro sloslo, we nכ de fil pen (lipomas) de fכm כnda di skin na difrεn pat dεm na di bכdi, spεshal wan na di bak, di trכnk, di limb dεm, εn di finga dεm. |
| Ɛmimɛgalɛnsɛfali | Insay dis kɔndishɔn, di wan ol bren ɔ af pan di bren kin big pas aw i kin bi. Dɛn pikin ya kin gɛt sik dɛn we de mek dɛn nɔ ebul fɔ waka, dɛn kin paralayz, ɛn dɛn kin delay fɔ gro. |
| Lipomatosis we de kam insay di fes | Wan pat pan di fes we de swel ɔ we nɔ de mek pɔsin fil pen. Dis kin apin na wan say nɔmɔ na di ed. Sɔntɛnde, pat pan di tɔŋ kin big ɛn di bon ɛn tit kin afɛkt. |
Wetin na di tritmɛnt dɛm fɔ dis?
No mɛrɛsin nɔ de fɔ PROS yet. Bɔt bɔku we dɛn de fɔ kɔntrol di sik ɛn di sayn dɛm we i kin gɛt.
Yu dɔktɔ go disayd di tritmɛnt we go fayn fɔ yu pikin. I go mek dɛn disizhɔn ya afta i dɔn tek tɛm chɛk yu pikin in kɔndishɔn ɛn tɔk to difrɛn spɛshal pipul dɛn (e.g., ɔspitul dɔktɔ dɛn, nyurolɔjis dɛn). Na sɔm pan di men tritmɛnt dɛn we yu kin gɛt:
- Ɔpreshɔn: Dɛn kin se yu fɔ du ɔpreshɔn fɔ pul di tisu we dɔn gro pasmak, mɔ if di gro de ambɔg yu pikin in ebul fɔ waka ɔ du tin dɛn ɛvride, de put prɛshɔn pan in bren, ɔ nid fɔ kɔrɛkt wan sik lɛk skɔliosis.
- Mɛrɛsin: Yu dɔktɔ kin gi yu mɛrɛsin fɔ kɔntrol sɔm patikyula sayn dɛn lɛk we yu de swɛla. Risach de go bifo bak pan nyu dכg dεm we de tכk bכt di aktiviti fכ di PIK3CA jin.
Aw mi pikin in fiuja go tan lɛk?
Dis na wan pan di big tin dɛn we de mɔna ɛni mama ɔ papa ɛn fred. PROS na wan sik we pɔsin kin gɛt fɔ ɔl in layf. Bikɔs di sik kin difrɛn frɔm wan pɔsin to ɔda pɔsin, di pikin in tumara bambay kin difrɛn akɔdin to dat.
Dis min se sɔm pikin dɛn kin liv nɔmal layf we nɔ kin gɛt ɛni big ifɛkt. Ɔda pipul dɛn, mɔ if di bren dɔn afɛkt, kin gɛt difrɛns fɔ lan ɛn dɛn kin delay fɔ divɛlɔp.
Apat frɔm dat, dɛn dɔn si se sɔm pipul dɛn we gɛt PROS gɛt sɔm risk fɔ gɛt kansa, bikɔs dis sem PIK3CA jin muteshon de bak na kansa sɛl dɛn na pipul dɛn we nɔ gɛt PROS.
Nɔ fred dis we yu nɔ nid fɔ fred. De tin wae impɔtant pas ɔl na fɔ tɔk opin wan bɔt dis risk wit yu dɔktɔ. Dɔn, yu kin mek dɛn du di tɛst dɛn we yu nid di rayt tɛm ɛn si if prɔblɛm de fɔ mek dis kayn tin apin. Yu dɔktɔ go de wach yu pikin ɔltɛm ɛn gi yu di advays we i nid.
Mɛsej we dɛn kin kɛr go na os
- PROS na grup fכ kכndishכn dεm we dεn kכz bay wan mכtεshכn na di jin `PIK3CA`. Nɔto di mama ɛn papa fɔlt kin mek dis apin.
- Dis nɔto sik we pɔsin kin gɛt frɔm in mama ɛn papa. Jɔs bikɔs wan pan yu pikin dɛn gɛt am nɔ min se di ɔda pikin dɛnsɛf go gɛt am.
- Di sayn dɛm kin difrɛn frɔm wan pikin to ɔda pikin. Sɔm kin gɛt smɔl ifɛkt, ɛn ɔda wan dɛn kin gɛt siriɔs prɔblɛm.
- Pan ɔl we no mɛrɛsin nɔ de fɔ PROS, dɛn kin ebul fɔ kɔntrol di sik dɛn fayn fayn wan wit ɔpreshɔn ɛn mɛrɛsin.
- I rili impɔtant fɔ tɔk opin wan ɛn ɔltɛm wit yu dɔktɔ bɔt ɛnitin we de mɔna yu ɔr de fred bɔt yu pikin in kɔndishɔn, tritmɛnt, ɛn tumara bambay.
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