Yu pikin gɛt dis rare genetic condition? Lɛ wi tɔk bɔt Trisomy 13 (Trisomy 13 - Patau Syndrome)!

We yu de op fɔ bɔn pikin, ɔ gɛt smɔl pikin, i nɔmal fɔ mek yu wɔri smɔl ɔ want fɔ no bɔt dɛn wɛlbɔdi biznɛs, nɔto so? Sɔntɛnde wi kin lan bɔt sik dɛn wit nem dɛn we wi nɔ ɛva yɛri bɔt. Fɔ ɛgzampul, wan sik we nɔ kin apin so ɔltɛm we bɔku pipul dɛn nɔ no bɔt, bɔt i kin afɛkt pikin, dɛn kɔl am Trisomy 13. Sɔm pipul dɛn kin kɔl am bak Patau Syndrome. Pan ɔl we dis kin tan lɛk se yu de mek yu fred smɔl, i impɔtant fɔ no bɔt am gud gud wan. So, lɛ wi tɔk bɔt am simpul wan, di we we yu go ɔndastand?

Yu no wetin na Trisomy 13?

Fɔ tɔk am simpul wan, ɔl di sɛl dɛn na wi bɔdi gɛt smɔl smɔl tin dɛn we dɛn kɔl kromozom we de kip di tin dɛn we de na di jɛnɛtiks. Dɛn tin ya tan lɛk di instrɔkshɔn manyual dɛn we wi bɔdi nid fɔ gro ɛn wok. Tink bɔt dɛn lɛk chapta dɛn na buk. Nɔmal wan, wi kin gɛt tu tu ɔ tu pan ɛni kromozom. Wi kin gɛt wan frɔm wi mama ɛn wan frɔm wi papa.

Bɔt pikin we gɛt Trisomy 13 gɛt tri kɔpi dɛn fɔ di 13th kromozom instead of tu. Na dat mek dɛn kɔl am ‘trisomy’ (‘tri’ min tri). dis εkstra kromozom de afekt di pikin in fes, in bren, in at, εn in bכdi divεlכpmεnt difrεn we dεm. Bɔku tɛm dis kin bi tin we kin mek di pikin day. fכ dat, sכmtεm de risk de fכ mek di pikin bכn we uman bεlε, כ, i sɔri fɔ no se, di risk de fכ lכs di pikin insay di fכs ia we i de liv.

Udat dɛn dis kayn tin kin afɛkt mɔ?

Dis na sɔntin we kin apin to ɛnibɔdi. biכs i de kכz fכ wan kכpi mistek we de apin aksidεnt wan we di sεl dεm divayd we di pikin de divεlכp. Dat min se nɔto bikɔs na di mama ɔ di papa in fɔlt. Bɔt sɔm stɔdi dɛn dɔn sho se mama dɛn we dɔn pas 35 ia kin gɛt dis sik smɔl we dɛn bɔn pikin . Bɔt dis nɔ min se i nɔ kin apin to mama dɛn we yɔŋ, ɛn i nɔ kin apin to ɔlman we dɔn big.

Fɔ no if yu de pan denja fɔ dis kayn jenɛtik sik, i fayn fɔ tɔk to yu dɔktɔ bɔt jenɛtik tɛst , mɔ if yu de plan fɔ bigin famili ɔ yu gɛt bɛlɛ.

Aw kɔmɔn tin na Trisomy 13 (Patau Syndrome)?

Dis na tin we nɔ kin apin so ɔltɛm. I kin afɛkt lɛk 1 pan ɛvri 10,000 to 20,000 pikin dɛn we dɛn bɔn layf layf wan. Di rεt wae de day kin hεvi na di fכs fכs de dεm na layf. biכs kכndishכn dεm we de mek in layf de pan denja lεk at prכblεm εn spεnal kכd abnכmaliti kin divεlכp di tεm we di pikin in bεlε de, bכku bεlε dεm kin dכn wit di bεlε. na 5% to 10% pan di pikin dεm we dεn bכn wit Trisomy 13 de liv pas dεn fכs ia. E fayn fɔ ɔndastand fɔ fil sɔri wae yu yɛri dɛn statystik ya, bɔt e fayn fɔ no bɔt dis sik.

Aw di sik we dɛn kɔl Trisomy 13 (Patau Syndrome) kin afɛkt mi pikin in bɔdi?

Trisomy 13 kin gεt bכku impak pan yu pikin in divεlכpmεnt. Dɛn tin ya kin difrɛn frɔm wan pikin to ɔda wan.

Fɔ ɛgzampul,

• Kleft palata ɔ cleft lip
• fכ gεt εkstra finga dεm na di an εn fut (polydactyly) .
• di mכsul dεm we de wik (hypotonia) , we min se di pikin in bכdi de fil se i nכ gεt layf.
• Smɔl ed (maykrosɛfali) .

yu kin si abnכmal tin dεm na di fyzikal divεlכpmεnt.

i de afekt bak di divεlכpmεnt fכ di pikin in insay כgan dεm. Dis kin mek prɔblɛm wit impɔtant ɔgan dɛn, mɔ di at, bren, ɛn kidni. Dis kin mek yu gɛt sayn dɛn we de mek yu layf de pan denja. Afta dɛn bɔn di pikin, i go mɔs bi se dɛn go kip di pikin na di Nionatal Intensive Care Unit (NICU) . Na de, dɔktɔ ɛn nɔs dɛn go gi di pikin di mɛrɛsin ɛn kia we i nid bay di pikin in bɔdi simptom dɛn fɔ gi am di bɛst chans fɔ liv.

Wetin na di sayn dɛm wae de sho se yu gɛt Trisomy 13 (Patau Syndrome)?

Dɛn sayn ya kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin, ɛn aw dɛn kin tranga kin difrɛn. Sɔm bebi dɛn kin gɛt bɔku sayn dɛn, ɛn ɔda wan dɛn kin gɛt smɔl.

Di men tin dɛn we pɔsin kin si na:

• Di at abnɔmal tin dɛn we dɛn bɔn wit. Dis na wan sik we kin rili kɔmɔn.
• dizכrd dεm fכ divεlכpmεnt na di bכdi, spεshal wan di spεnal kכd abnכmaliti.
• Siriɔs prɔblɛm dɛn wit di kɔgnitiv wok. Dis min se i kin gɛt big impak pan di pikin in maynd divɛlɔpmɛnt.
• di כgan dεm we de insay di bכdi we nכ de divεlכp.

Wetin na di sayn dɛn we pɔsin kin si?

Dis na sɔm pan di tin dɛn we de na do:

• Kleft lip ɔ cleft palata.
• i at fכ gεt wet, we min se di pikin nכ de gεt inof milk εn i nכ de latch pan gud gud wan.
• Fɔ gɛt ɛkstra finga ɔ fut finga dɛn (polydactyly).
• Yes dɛn we nɔ gɛt bɛtɛ sɛt.
• abnכmal tin dεm na di divεlכpmεnt fכ di an εn leg dεm.
• Di mɔsul dɛn we wik (hypotonia).
• Smɔl ed (maykrosɛfali) ɛn smɔl jaw (maykrognathia).
• Di yay dɛn we rili smɔl, we de nia, ɔ we nɔ de divɛlɔp fayn.

Wetin na di sayn dɛm wae kin afɛkt di insay pat dɛm?

Dis kכndyushכn de afekt di כgan dεm we de insay di bכdi bak:

• Prɔblɛm dɛn we de na di bɛlɛ (GI) we kin mek i nɔ izi fɔ it.
• At we nɔ de wok fayn.
• Prɔblɛm fɔ yɛri, dat na fɔ yɛri prɔblɛm.
• Lɔng dɛn we nɔ de divɛlɔp bɛtɛ.
• Prɔblɛm dɛn we pɔsin kin gɛt we i de si.

Bikɔs dɛn intanɛnt ɔgan simptom ya kin mek dɛn layf de pan denja, lɛk 80% pan di pikin dɛn we dɛn no se gɛt Trisomy 13 kin day bifo dɛn fɔs batde.Ivin di wan dɛn we de liv da kayn layf de kin gɛt ɔda tin dɛn we kin mek dɛn layf de pan denja, lɛk kansa ɛn we dɛn kin gɛt sik we dɛn kɔl seiz, afta di fɔs ia.

Wetin kin mek pɔsin gɛt Trisomy 13 (Patau Syndrome)?

as wi bin dכn tכk, Trisomy 13 de kכz bay we dεn ad wan εkstra kromozom apat frכm kromozom 13. So, pכsin we gεt trisomy 13 gεt totכl 47 kromozom dεm, insted fכ di nכmal 46.

Imajin, wi bɔdi gɛt sɔntin we dɛn kɔl kromozom. dis na di DNA (Deoxyribonucleic Acid) we de insay wi sεl dεm, we de stכr di instrכkshכn dεm we wi bכdi nid fכ gro εn fכ wok. Jin na pat dɛn na dis DNA, lɛk chapta dɛn na instrɔkshɔn buk.

di sεl dεm de fכs fכm na di rεprכdaktiv כgan dεm, we wan sεl εn wan eg de jכyn tכgeda fכ mek wan fεtilayz sεl. di nyu sεl dεm de sheb εn mek kכpi fכ dεn sεf wit af DNA fכ di כrijinal sεl. insay dis prכsεs we di sεl dεm de sheb, sכmtεm dεn kin ad wan tכd kromozom to wan pe kromozom bay chans – dεn kכl dis trisomy. I tan lɛk ɛkstra lɛta na tɛksbuk we yu kɔpi am wɔd fɔ wɔd. we dis ‘typo’ de apin, di simptom dεm fכ trisomy 13 de apin. biכs di sεl dεm nכ de gεt di instrכkshכn dεm we dεn nid fכ gro εn fכ wok fayn fayn wan.

Tri we dɛn de we trisɔmi 13 kin apin:

tri men we dεm de we trisomy 13 kin apin, i dipכnt pan aw kromozom 13 de jכyn:

1. Kɔmplit Trisomy 13: Dis na di wan we kin bɔku pas ɔl. wetin de apin ya na dat bifo uman bכn, we di sεl εn di eg de fכm, wan random kכpi mistek de mek dεn ad mכr jεnεtik mεtirial to kromozom 13 pas aw i nid. dis min se εvri sεl na di pikin gεt tri kכpi dεm fכ di kromozom 13. dis εkstra jεnεtik mεtirial na in de mek di sik dεm.

2. translokeshכn: dis kin apin insay lεk 20% pan di pipul dεm we gεt trisomy 13. dis kin apin we, we di εmbrayo de divεlכp, wan pat pan di kromozom 13 de atak כda kromozom we de nia (fכ egzampl, kromozom 14). insay dis kes, nכmal wan tu pe kromozom 13 de, bכt apat frכm dat, wan pat pan kromozom 13 de atak כda kromozom.

3. Mosayk Trisɔmi 13: Dis nɔ kin apin so ɔltɛm. wetin de apin ya na dat na sכm sεl dεm nכmכ na di bכdi gεt εkstra kכpi fכ kromozom 13, nכto כl di sεl dεm. dat min se sכm sεl dεm gεt tri pan di 13 kromozom dεm, we כda sεl dεm gεt di nכmal tu pe dεm (euploid). di siriכs simptom dεm na mosayk trisomy 13 dipכnt pan di nכmba fכ di sεl dεm we gεt di εkstra kromozom. Di mɔ sɛl dɛn gɛt di ɛkstra kɔpi, na di mɔ di sayn dɛn kin rili bad.

Aw dɛn kin no se pɔsin gɛt Trisomy 13 (Patau Syndrome)?

insay di fכs trimεst we di bεlε de, arawnd wik 11-14, yu dכkta go du rutin prεnatal כltra saund.Apat frɔm dat , dɛn kin se dɛn fɔ du tɛst fɔ no if pɔsin gɛt jɛnɛtiks . dis skan dεm de luk fכ tin dεm lεk εksyכs amniotic fluid εn eni abnכmaliti na di pikin in divεlכpmεnt. Dɛn tin ya kin bi bak fɔ tɛst blɔd.

If dɛn fɔs tɛst ya sho se i gɛt prɔblɛm, di dɔktɔ kin tɛl yu fɔ du ɔda tɛst fɔ no if yu gɛt di sik. di diagnosis kin kכnfכm afta dεn bכn di pikin. Dɔn di dɔktɔ kin chɛk di pikin in bɔdi fɔ luk fɔ di sayn dɛn we de sho se i gɛt di sik ɛn if nid de, i kin du spɛshal tɛst dɛn bɔt di kromozom, lɛk fɔ tɛst di kayotayp . dis karyotayp tεst dεn de yuz fכ kכnfכm di εksakכt kromozom abnכmaliti.

Aw dɛn kin trit Trisomy 13 (Patau Syndrome)?

di pikin we gεt Trisomy 13 go nid tritmεnt כl tu we i bכn εn fכ lכng tεm, fכ kכntrכl di sik dεm εn mek di pikin fil fayn as i ebul. Bɔt wi fɔ ɔndastand bak se no kɔmplit mɛrɛsin nɔ de fɔ dis sik . Di tritmɛnt na fɔ mɛn di sayn dɛm ɛn fɔ mek yu gɛt bɛtɛ layf.

Di tritmɛnt fɔ pikin dɛn we dɛn bɔn wit trisomy 13 na:

• Edukeshɔnal sɔpɔt: Edukeshɔnal program dɛn we dɛn mek fɔ pikin dɛn we gɛt spɛshal nid.
• Mɛrɛsin fɔ ridyus di sayn dɛm: Fɔ ɛgzampul, mɛrɛsin fɔ kɔntrol di sik we pɔsin kin gɛt ɔ fɔ mek i gɛt at sik.
• Tεrapi fכ tכk, bihayvya εn fכshal tεrapi: dεn tritmεnt dεm ya de εp fכ divεlכp di pikin in abiliti dεm.
• Ɔpreshɔn fɔ kɔrɛkt di tin dɛn we nɔ fayn na in bɔdi: Fɔ ɛgzampul, dɛn kin du ɔpreshɔn fɔ mek pɔsin in palata skata ɔ fɔ mek sɔm tin dɛn we nɔ fayn na in at. Bɔt dɛn kin du dɛn ɔpreshɔn ya afta dɛn dɔn tink bɔt di pikin in ɔl wɛlbɔdi.

Sɔm tɛm dɛn we dɛn kin gɛt trisomy 13, di pikin nɔ kin liv fɔ si in fɔs batde, bɔt di kayn we aw di sik kin tranga kin mek i nɔ ebul fɔ rich in fɔs batde. Bɔku tɛm, we dɛn no se i gɛt trisomy 13, i kin mek di bɛlɛ ɔ i nɔ gɛt bɛlɛ igen. Insay dis tranga tɛm, i impɔtant fɔ aks fɔ sɔpɔt frɔm yu padi dɛn, fambul dɛn, ɛn dɔktɔ dɛn fɔ ɛp yu fɔ bia wit di prɔblɛm. Fɔ advays yu bɔt sɔri-at ɔ fɔ advays yu bɔt pɔsin we dɔn day kin bi fayn we fɔ ɛp yu fɔ bia we pɔsin we yu lɛk day, mɔ di pikin.

Aw a go ridyus di risk fɔ mek mi pikin gɛt Trisomy 13 (Patau Syndrome)?

Trisomy 13 na wan jεnεtik difεkt we de apin randomly, so n כ we rili de fכ mek dεn nכ am. Dat min se i nɔ go ebul fɔ mek yu gɛt ɛnitin we yu du ɔ yu nɔ du. Bɔt as wi bin dɔn tɔk, if yu dɔn pas 35 ia we yu gɛt bɛlɛ, yu risk fɔ bɔn pikin we gɛt di jenɛtik kɔndishɔn kin bɔku smɔl.

If yu de plan fɔ bɔn pikin, tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks.I impɔtant fɔ no bɔt di jenɛtik tɛst ɛn ɔndastand di risk fɔ gɛt pikin we gɛt jɛnɛtik kɔndishɔn.

Wetin yu kin ɛkspɛkt if yu gɛt pikin we gɛt Trisomy 13 (Patau Syndrome)?

Pan ɔl we i nɔ kin izi fɔ yɛri dis, i impɔtant fɔ tɔk di tru. i at fכ se εnitin gud bכt di prכgnosis fכ pikin we dεn no se i gεt Trisomy 13. Dis na biכs siriכs kכmplikεshכn kin apin di pikin in stej, spεshal wan we kin afekt di pikin in imכtant כgan dεm lεk in bren, at, spεnal kכd, εn lכng.

If pikin gɛt trisomy 13, i kin kɔmɔn fɔ mek di pikin kɔmɔt na di bɛlɛ insay di fɔs tri mɔnt. 80% pan di pikin dεm we dεn bכn wit trisomy 13 gεt sכt layf εkspεktεns. Bɔku pikin dɛn kin day insay di fɔs wik dɛn we dɛn de liv ɔ bifo dɛn fɔs batde. Na lɛk 10% nɔmɔ de liv pas dɛn fɔs ia. Dɛn pikin ya kin gɛt fɔ liv bak wit siriɔs wɛlbɔdi prɔblɛm ɛn divɛlɔpmɛnt we kin delay fɔ lɔng tɛm.

Aw a kin tek kia ɔf misɛf afta dɛn dɔn no se a gɛt Trisomy 13 (Patau Syndrome)?

Fɔ gɛt diagnosis fɔ Trisomy 13, ɔ fɔ lɔs pikin bikɔs ɔf am, na ɛkspiriɛns we rili at fɔ bia wit. I rili impɔtant fɔ mek yu kia fɔ yusɛf ɛn yu famili dis tɛm.

• If yu de fil bad, wɔri, pwɛl hat, ɔr nɔr gɛt op, ɛn yu nɔr kin ebul fɔ bia wit yu pikin we dɔn day, go to dɔktɔ ɔ pɔsin we de advays yu bɔt yu maynd .
• Fɔ gɛt advays kin ɛp yu fɔ kɔntrol dis pwɛl hat.
• Tɔk bɔt aw yu de fil to yu famili ɛn yu tayt padi dɛn.
• Mɛmba se nɔto yu wangren de. Dɔn bak, luk fɔ sɔpɔt grup dɛn usay yu go gɛt sɔpɔt frɔm ɔda mama ɛn papa dɛn we dɔn go tru di sem kayn ɛkspiriɛns.

Ustɛm a fɔ go to dɔktɔ?

Si dɔktɔ wantɛm wantɛm if yu pikin sho se i gɛt siriɔs sik we dɛn kɔl Trisomy 13. Dis min se:

• If i at fɔ it, if i tan lɛk se milk dɔn stɔp na di trot.
• If i at fɔ blo, if di we aw yu de blo difrɛn.
• If di at bit nɔ de bit ɔltɛm.
• If di sik dɛn we de mek pɔsin sik apin.

Dɔn bak, if yu de gɛt sɔri-at, wɔri, ɔ pwɛl hat we yu nɔ go ebul fɔ bia bikɔs yu pikin dɔn lɔs ɔ dis sik, mek shɔ se yu go to dɔktɔ ɛn tɔk bɔt am.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

Na nɔmal tin fɔ gɛt bɔku kwɛstyɔn dɛn na di tɛm lɛk dis. Nɔ fred fɔ aks yu dɔktɔ dɛn kwɛstyɔn ya:

• "Wetin na mi/wi risk fɔ gɛt pikin wit jenɛtik kɔndishɔn?"
• "Us tritmɛnt yu kin advays fɔ ɛp mi pikin fɔ liv afta dɛn bɔn am?"
• "Us spɛshal tin a fɔ no we a de kia fɔ pikin we dɛn bɔn wit dis kɔndishɔn?"
• "If a lɔs mi pikin, yu kin tɛl mi bɔt kɔyl savis ɔ ɔda tin dɛn we go ɛp mi fɔ bia wit di sɔri-at?"

Wetin na di difrɛns bitwin Trisomy 13 ɛn Trisomy 18?

Trisomy 13 εn Trisomy 18 – we dεn kכl bak Edwards sεndrכm – na di sem we aw dεn tu involv fכ ad εkstra kromozom to wan pe. di difrεns na if dεn ad di εkstra kromozom to kromozom 13 כ kromozom 18. Insay di tu kes dεm, di sikman gεt totכl 47 kromozom, insted fכ di nכmal 46.

De sayn dɛm fɔ dɛn tu sik ya kin rili fiba, ɛn dɛn ɔl tu rili siriɔs. Bɔku tɛm, di bad tin dɛn we kin apin kin mek pɔsin in layf de pan denja. Bɔku mama ɛn papa dɛn kin gɛt bɛlɛ, dɛn kin bɔn pikin dɛn we dɔn day, ɔ di pikin kin day bifo in fɔs batde.

Wan impɔtant mɛsej fɔ mek yu maynd

We yu kam fɔ no se yu pikin gɛt Trisomy 13 ɛn dat mek dɛn tink se i go liv shɔt layf, yu kin fil bɔku bɔku shok, sɔri, ɛn fil pen. Yu kin fil bɔku tin dɛn wan tɛm, lɛk fɔ fil bad, fɔ vɛks, fɔ kɔnfyus, fɔ nɔ ebul fɔ du ɛnitin, ɔ yu kin fil se yu dɔn lɔs. Ɔl dɛn filin ya na nɔmal tin.

Mɛmba se nɔto yu wangren de insay dis tranga tɛm. E fayn fɔ gɛt pipul dɛm wae de sɔpɔt yu, lɛk yu fambul, yu man ɔr wɛf, ɛn yu padi dɛm wae yu kin trɔst, ɛn bak pipul dɛm wae sabi bɔt mɛntɛl hεlth lɛk dɔktɔ, nɔs, ɛn pipul dɛm wae kin gi advays bɔt pwɛl hat wae kin ɛp yu fɔ pas dis tranga ɛkspiriɛns. Nɔ ɛva fred fɔ tɔk bɔt aw yu de fil ɛn aks fɔ ɛp.

A op se dis infɔmeshɔn dɔn ɛp yu fɔ ɔndastand sɔm kayn sik we dɛn kɔl Trisomy 13 (Patau Syndrome).

` Trisomy 13, Patau syndrome, jεnεtik sik dεm, kromozom abnכmaliti, bεlε, pikin hεlth, difεkt dεm we dεn bכn wit