Yu pikin kin fil taya ɛn taya ɔltɛm? Yu tink se i luk lɛk pɔsin we nɔ gɛt wan bɔt? Ɔ ɛni chenj de na di bɔdi we kin apin frɔm we dɛn bɔn am? Sɔntɛm di tin we kin mek dɛn tin ya apin na wan sik we nɔ kin apin so ɔltɛm we dɛn kɔl Fanconi Anemia. Nɔ frayd we yu yɛri dis nem, bikɔs na kɔndishɔn we nɔto bɔku pipul dɛn dɔn yɛri bɔt, i kɔmplikt smɔl, ɛn i nɔ kin bɔku bak. So tide wi go tɔk bɔt dis, wetin i bi, wetin na di sayn dɛm, ɛn if tritmɛnt de, ɔl dis na wan rili simpul we we yu go ɔndastand.
Okay, mek wi si fɔs wetin na Fanconi anemia (FA)?
Fɔ tɔk am simpul wan, Fanconi Anemia (FA) na wan jɛnɛtik kɔndishɔn we nɔ kin apin so ɔltɛm we kin afɛkt di bon mɛro na wi bɔdi mɔ.
Naw yu go de wɔnda wetin na dis bon mɛro. Wi kin kɔl di pat we saf ɛn we tan lɛk spɔnj insay di big bon dɛn na wi bɔdi bon mɛro. I tan lɛk blɔd faktri na wi bɔdi. Di tri men kayn blɔd sɛl dɛn we wi bɔdi nid , we na rɛd blɔd sɛl, wayt blɔd sɛl, ɛn pletlɛt, na frɔm dis bon mɛro.
Bɔt di bon mɛro fɔ pɔsin we gɛt FA nɔ kin ebul fɔ mek dɛn blɔd sɛl ya fayn fayn wan. I tan lɛk se di faktri in prodakshɔn dɔn ambɔg. Dis kin mek dɛn nɔ de mek di blɔd sɛl dɛn we gɛt wɛlbɔdi. Dis sik kin kam wit difrɛn kayn wɛl bɔdi prɔblɛm. כlso, FA kin afekt nכto כnli di bon mכro, bכt i kin afekt bכku כda pat dεm na di bכdi.
Aw FA kin afɛkt di bɔdi?
Di we aw dis sik kin afɛkt ɛnibɔdi kin difrɛn, bɔt in jɛnɛral, sɔm men tin dɛn de we kin ambɔg am.
- di tin dεm we de apin na di bכdi: Na lεk 75% pan di pikin dεm we dεn bכn wit FA, כ tri pan fכ, gεt sכm kayn bכdi. Dɛn tin ya kin afɛkt di we aw pɔsin de luk ɛn di ɔgan dɛn we de insay di bɔdi.
- Bon mכro Fεil: Na lεk 90% pan di pipul dεm we gεt FA kin gεt bon mכro fεil. Dis min se di bon mכro nכ ebul fכ mek inof hεlty bכdi sεl dεm. Dis kin mek ɔda sik dɛn we de na di blɔd, lɛk aplastic anemia ɛn myelodysplastic syndrome (MDS) . Dɛn kin tek MDS as prɛ-lukimiya.
- Di risk fɔ gɛt kansa we de go ɔp: Bitwin 10% ɛn 30% pan di pipul dɛm wae gɛt FA kin gɛt bɔrku risk fɔ gɛt sɔm kayn kansa, lɛk lukimiya. Dɛn kansa ya kin apin bak we i yɔŋ pas di avɛrej pɔsin.
Bɔt nɔ fred we yu yɛri dɛn tin ya. Tide, wit di advans mεdikal sayns, εspεshali tritmεnt lεk bon mכro transplant, pipul dεm wae gεt FA gεt chans fכ liv rεlatεv hεlth εn lכng layf.
Yu tink se Fanconi anemia na kansa?
Dis na kwɛstyɔn we bɔku pipul dɛn gɛt. Di simpul ansa na, nɔ . FA nɔto kansa. Na sik we pɔsin kin gɛt we i kam pan jɛnɛtiks.
Bɔt bikɔs di bɔdi in ebul fɔ mek di sɛl dɛn we dɔn pwɛl nɔ de wok fayn pan pipul dɛn we gɛt FA, dɛn kin gɛt kansa pas ɔda pipul dɛn. Na mɔtalman kin gɛt kansa lɛk akyu mayloid lukimiya , kansa na dɛn skin, ɛn kansa na dɛn ed ɛn nɛk.
Wetin na di sayn dɛm fɔ dis sik?
Di sayn dɛm fɔ FA kin difrɛn bad bad wan. Sɔm pipul dɛn kin gɛt sɔm kayn sik wae dɛn kin si wae dɛn bɔn dɛn, ɛn ɔda pipul dɛn nɔr kin gɛt ɛni sayn fɔ lɔng tɛm. Lɛ wi sheb dɛn sayn ya to sɔm kayn grup dɛm.
1. Simptom dɛm fɔ Anemia
Dɛn sayn ya kin apin we di bɔdi in rɛd blɔd sɛl dɛn dɔn go dɔŋ.
- Taya ɔltɛm: Fɔ fil so taya ɛn taya dat yu nɔ ebul fɔ ivin du nɔmal wok dɛn.
- Pale skin: Di skin kin tan lɛk pale bikɔs blɔd nɔ de na di bɔdi.
- Fɔ blo shɔt: Fɔ fil se yu nɔ gɛt bɛtɛ briz ivin afta yu dɔn waka smɔl.
- Fɔ fil lɛk se yu at de bit fast fast.
- Yu ed kin at ɔltɛm.
2. Di sayn dɛm we de sho se di Bɔn Mɛro nɔ de wok fayn
Dis kin mek yu gɛt sayn bikɔs ɔf di rɛd blɔd sɛl, wayt blɔd sɛl, ɛn pletlɛt dɛn we de go dɔŋ.
- Infekshɔn ɔltɛm: Bikɔs di wayt blɔd sɛl dɛn nɔ bɔku, di bɔdi in imyun sistɛm kin wik, we kin mek i gɛt baktri ɛn fɛns infɛkshɔn bɔku tɛm.
- I izi fɔ blɔd: If di pletlɛt dɛn nɔ bɔku, dat kin mek di blɔd nɔ klɔt. Dis kin mek blɔd kɔmɔt na di gam ɛn nos, brus ɛn brus, ɛn blɔd we nɔ de stɔp ivin frɔm smɔl injury.
3. Simptom dɛm fɔ kansa wae kin gɛt fɔ du wit FA
- MDS ɛn AML: Dɛn tin ya kin mek pɔsin taya pasmak, i kin mek i izi fɔ mek i blɔd ɛn brus, i kin mek i gɛt blɛsin, i nɔ kin izi fɔ blo, ɛn i kin mek i gɛt siriɔs infɛkshɔn.
- Squamous cell carcinoma: Raf bamp ɔ nɔ de wɛl na di skin.
4. Di kwaliti dɛm we gɛt fɔ du wit di chenj dɛm na di bɔdi
Bɔku tɛm, pɔsin kin si dɛn kwaliti dɛn ya we dɛn bɔn am. Nɔto ɔlman gɛt ɔl dɛn kayn kwaliti ya, bɔt dɛn kin gɛt wan ɔ mɔ.
| Difrɛns pan di kwaliti/fizik | Simpul ɛksplen |
|---|---|
| Di chenj dɛn we de apin na di an ɛn di big big an | Tumb dɛn we nɔ shep fayn, we gɛt tu big an na wan an, ɔ we nɔ gɛt big big an atɔl. |
| Smɔl pas di nɔmal ed (Maykrosɛfali) . | Dɛn pikin ya kin delay fɔ lan tin lɛk fɔ tɔk, tinap, ɛn waka. |
| Hydrocephalus we gɛt di sik | Dis kin mek yu gɛt prɔblɛm wit yu balans, fɔ si tin, ɛn fɔ lan. |
| I nɔ de yɛri fayn | I nɔ kin izi fɔ yɛri bikɔs di yes dɛn nɔ kin shep ɔ smɔl. |
| Skin kɔlɔ kin chenj | Layt brawn spat (café-au-lait spot) ɔ big spat na di skin. |
| Skɔliosis we de mek pɔsin gɛt sik | We yu si wan abnɔmal kɔva na di spayna. |
| Di we aw pɔsin nɔ de gro fayn | Fɔ bi pɔsin we lɔng ɛn ebi pas yu kɔmpin dɛn. |
Wetin mek dis de apin? Wetin na di rizin?
Di rizin fɔ dis na wan prɔblɛm we de na wi jin dɛn . Tink bɔt wi bɔdi lɛk bildin we dɛn bil akɔdin to wan kɔmpleks plan. Dat plan na wi jin. Na lɛk 20 jin dɛn de we gɛt fɔ du wit FA. Di men wok we dɛn jin ya de du na fɔ protɛkt ɛn mek di sɛl dɛn na wi bɔdi, mɔ di DNA, fɔ mek dɛn nɔ pwɛl ɛvride.
Pɔsin we gɛt FA gɛt muteshon na dɛn jin ya. So, di we aw dɛn kin mek di say we dɔn pwɛl nɔ kin apin fayn fayn wan.
- Na bikɔs ɔf disכda damej dεm na DNA kin kכmכt εn di sεl dεm kin bigin fכ sheb abnכmal כ day.
- di chenj dεm na di bכdi εn di bכdi sεl dεm we de dכn kin apin we di sεl dεm de day abnכmal.
- Kansa lεk lukimiya kin apin we di sεl dεm bigin fכ gro abnכmal wan.
Dis na sɔntin we mama ɛn papa kin gɛt frɔm pikin dɛn. Tu mama ɛn papa dɛn we gɛt di jin we nɔ fayn gɛt 25% (wan pan 4) chans fɔ gɛt pikin we gɛt FA.
Aw dɔktɔ dɛn kin no bɔt dis sik?
Bɔku tɛm, dɛn kin sɔprayz se FA we dɛn de chɛk ɔda sayn dɛm (fɔ ɛgzampul, anemia, infekshɔn bɔku tɛm), pas fɔ no am dairekt wan. Na da tɛm de nɔmɔ dɛn kin du sɔm patikyula tɛst fɔ dis kɔndishɔn.
Na sɔm pan di tɛst dɛn we dɛn kin du:
| Tɛst | Wetin yu de si na ya? |
|---|---|
| Kɔmplit Blɔd Kɔnt (CBC) . | Dɛn kin chɛk di nɔmba fɔ di rɛd sɛl dɛn, di wayt sɛl dɛn, ɛn di pletlɛt dɛn we de na di blɔd ɛn dɛn wɛlbɔdi. |
| Bɔn Mɛrɔ Bayɔpsi | Dɛn kin tek smɔl smɔl bon mɛrɔ ɛn dɛn kin chɛk di sɛl dɛn fɔ no di sik. |
| MRI ɛn Ɔltrasɔund Skan | dεn kin yuz dεn tin ya fכ mכnitor di chenj dεm na di bכdi in insay כgan dεm. |
Speshal jεnεtik tεst dεm de bak we dεn kin yus fכ kכnfכm dis sik:
- Kromozom Brek Tεst: Dis na di men tεst fכ no FA. Insay dis tɛst, dɛn kin ad wan kemikal to di blɔd sɛl dɛn ɛn dɛn kin mɛzhɔ di kromozom dɛn we de na dɛn sɛl dɛn de fɔ si aw i izi fɔ brok. di kromozom dεm na di sεl dεm fכ pכsin we gεt FA de brok bכku pas di nכmal pכsin.
- Jεnεtik Skrin: dεn de du dis tεst fכ no di spεsifi k jεnεtik difεkt we de mek FA.
A kin no if mi pikin gɛt dis sik we i gɛt bɛlɛ?
Yɛs. If famili histri de fɔ FA, dɛn kin tɛst yu pikin fɔ di sik we i gɛt bɛlɛ. dis kin bi bay we dεn de yuz tεst dεm lεk amniocentesis כ chorionic villus sampling . Yu kin tɔk to yu dɔktɔ bɔt dis ɛn no mɔ.
Wetin na di tritmɛnt dɛm fɔ dis?
No mɛrɛsin nɔ de fɔ FA yet. Bɔt, fayn tritmɛnt dɛn de fɔ kɔntrol di sik ɛn prɔblɛm dɛn we kin kam wit am. Dɛn kin no di tritmɛnt plan bay di ej we di pɔsin gɛt, di kayn sik we i gɛt, ɛn in ɔl wɛl bɔdi.
| Di we aw dɛn kin trit am | Wetin kin apin to dis? |
|---|---|
| Transplant fɔ Bɔn Mɛrɔ | Dis na di bɛst tritmɛnt fɔ prɔblɛm dɛn we gɛt fɔ du wit blɔd we FA kin kam wit. insay dis, dεn kin transplant bon mכro stεm sεl dεm frכm hεlty pכsin fכ tek di bon mכro we sik in ples. |
| Andrɔjen Tɛrapi | Dis kayn ɔmon de mek di bɔdi gɛt rɛd blɔd sɛl ɛn pletlɛt dɛn. |
| Sintetik Grɔw Fakta dɛn | Dɛn kin gi dɛn tin ya as injɛkshɔn ɛn ɛp di bon mɛro fɔ mek mɔ wayt ɛn rɛd blɔd sɛl dɛn. |
| Ɔpreshɔn | dεn kin yus כpεrayshכn fכ kכrekt di fכshal abnכmaliti dεm we de de we dεn bכn am (e.g., prכblεm wit di big tכ). |
Tin dɛm fɔ no bɔt fɔ liv wit FA
Pɔsin we gɛt FA ɔ mama ɔ papa we gɛt pikin we gɛt am fɔ de wach ɔltɛm.
- Risk fɔ gɛt kansa:Pipul dɛn we gɛt FA kin gɛt tin dɛn we kin mek dɛn gɛt kansa lɛk tabak, so dɛn fɔ avɔyd fɔ smok ɛn fɔ smok sɛkɔn-han .
- Fɔ protɛkt yu skin: Bikɔs ɔf di risk fɔ gɛt kansa na yu skin, i rili impɔtant fɔ kɔba yu skin fayn ɛn yuz sanskrin we yu de go na do na di san.
- Tek tɛm wit injury: Bikɔs di risk fɔ blɔd de bɔku, yu nid fɔ tek tɛm mɔ we yu de du tin dɛn we go mek yu wund.
- Yu kin chɛk yu bɔdi ɔltɛm: Ivin afta yu dɔn transplant yu bon mɛro fayn fayn wan, di risk fɔ gɛt kansa kin stil de, so i impɔtant fɔ mek yu kɔntinyu fɔ chɛk yu bɔdi ɛn fala yu ɔlsay na yu layf. Yu fɔ no bɔt ɛni chenj na yu bɔdi (we yu de brus we nɔ kɔmɔn, yu de blɔd, yu taya) ɛn tɛl yu dɔktɔ wantɛm wantɛm if yu notis ɛni wan.
Fɔ liv wit dis sik kin tranga, bɔt yu mɛdikal tim go gi yu di gayd ɛn sɔpɔt we yu nid. So nɔ fred fɔ tɔk to yu dɔktɔ bɔt ɛnitin we de mɔna yu.
Mɛsej we dɛn kin kɛr go na os
- Fanconi anemia (FA) na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt di bon mɛrɔ.
- Dis kin mek di blɔd sɛl nɔ de wok fayn, i kin chenj in bɔdi, ɛn i kin mek i gɛt kansa mɔ.
- Yu fɔ no bɔt di sayn dɛm lɛk fɔ taya ɔltɛm, fɔ gɛt blɛsin, fɔ blɔd izi, ɛn fɔ gɛt infɛkshɔn ɔltɛm.
- Dɛn kin no di sik kɔrɛkt wan tru spɛshal blɔd ɛn jenɛtik tɛst.
- Pan ɔl we tritmɛnt dɛn lɛk fɔ transplant bon mɛrɔ kin ebul fɔ sɔlv di prɔblɛm dɛn we di sik gɛt we gɛt fɔ du wit blɔd, i rili impɔtant fɔ mek dɛn de wach di mɛrɛsin fɔ ɔl dɛn layf.
- If yu ɔ yu pikin gɛt dis sik, nɔto yu wan de. If yu wok togɛda wit yu mɛdikal tim, dat go ɛp yu fɔ win dis prɔblɛm.
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