Yu gɛt prɔblɛm wit yu an ɛn at? Sɔntɛm na di sik we dɛn kɔl Holt-Oram Syndrome!

Sɔntɛnde, wi kin gɛt sik dɛn we wi nɔ kin ivin imajin, nɔto so? Tide wi go tɔk bɔt wan kɔndishɔn we nɔ kin bɔku, bɔt i rili fayn fɔ no bɔt. If yu gɛt sɔm prɔblɛm wit yu at wit wan abnɔmal tin na yu an, an ɔ yu an, den di kɔz kin bi ‘Holt-Oram Syndrome’. Nɔ wɔri, lɛ wi tɔk bɔt dis ditayli.

Wetin na di sik we dɛn kɔl Holt-Oram Syndrome?

Fɔ tɔk am simpul wan, Holt-Oram syndrome na wan sik we nɔ kin apin so ɔltɛm, we dɛn bɔn wit . I kin afɛkt mɔ di bon dɛn na yu an, yu an, ɛn yu an, ɛn yu at. Imajin, sɔm pipul dɛn kin gɛt sɔm tin dɛn we nɔ kin apin na di bon dɛn na wan an. I kin de na wan say nɔmɔ, ɔ i kin de na ɔl tu di say dɛn. Sɔm pipul dɛn kin mis wan finga, ɔ dɛn big an kin lɔng lɛk di ɔda finga dɛn. Nɔto dat nɔmɔ, i kin kam bak wit at prɔblɛm. Dɛn at sik ya kin bi difrɛns na di strɔkchɔ na di at, ɔ sɔm tin dɛn kin de we nɔ de apin na di ilɛktrik impuls dɛm we de kɔntrol di at bit. dis kכndyushכn dεn kin kכl am bak wit sεvεra כda nem dεm, fכ egzampl `(Atrio-digital dysplasia)`, `(Cardiac-limb syndrome)`, כ `(Heart-hand syndrome, type 1)`. Bɔt di nem we dɛn kin yuz mɔ na Holt-Oram Syndrome.

Wetin na di sayn dɛm fɔ dis sik?

De sayn dɛm fɔ Holt-Oram Syndrome kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin . Fɔ sɔm pipul dɛm, dɛn sayn ya nɔr kin klia fɔ si. Insay dɛn kayn tin ya, dɔktɔ dɛn kin jɔs no dɛn kɔrɛkt wan wit spɛshal tɛst dɛn lɛk `(X-ray)` tɛst, `(CT skan)` (CT skan) ɔ `(MRI)` (MRI).

Prɔblɛm dɛn we gɛt fɔ du wit bon (an, an) .

If yu gɛt Holt-Oram syndrome, at le wan pan yu an bon dɛn nɔ go dɔn divɛlɔp fayn . Apat frɔm dat, yu kin gɛt ɔda prɔblɛm dɛn bak na yu bon, lɛk:

• Abnɔmal tin dɛn na di kɔlabɔn ɔ di sɔldɔm.
• Wan an we split. I kin tan lɛk bak se di finga dɛn dɔn jɔyn togɛda.
• Nɔ ebul fɔ ful-ɔp fɔ ɛkstɛnd ɔ rɔta di an we dɛn afɛkt.
• di kכva fכ di spayna, lεk fכ hunch (kyphosis) כ saydway kכva fכ di spayna (scoliosis).
• di absכns fכ big tכ, כ di big tכ we lכng pas di כda fut dεm εn posishun difrεnt.
• di prεsεns כnli sכm bon dεm na di fכs an כ we nכ bon dεm nכ de.
• di bon dεm we de כp di an nכ de divεlכp fayn fayn wan.

Imajin, we dɛn bɔn smɔl pikin, i nɔ gɛt big an na wan an, ɔ i difrɛn frɔm di ɔda finga dɛn. Ɔ i nɔ kin izi fɔ bɛn di an fayn fayn wan. Dis na sɔm pan di bon prɔblɛm dɛn we wi de tɔk bɔt.

Prɔblɛm dɛn we gɛt fɔ du wit at

Wit di sik we dɛn kɔl Holt-Oram SyndromeBɔrku pipul kin gɛt sɔm kayn at abnɔmal tin. di wan we kכmכn pas כl na wan ol na di wכl we de separet di lεft εn rayt say na di at, we dεn kכl di septum. Tu kayn ol dɛn de:

• di atrial septal difεkt: dis de bitwin di tu כp chεmba dεm na di at (atria).
• di vεntrikul septal dεfekt: dis de bitwin di tu chεmba dεm (vεntrikul dεm) na di bכtכm pat na di at.

Fɔ tɔk am simpul wan, di at gɛt 4 rum dɛn. Tu de ɔp ɛn tu de dɔŋ. Wetin kin apin ya na dat ol dɛn kin mek na di wɔl dɛn bitwin dɛn chɛmba dɛn ya. Di sayn dɛm kin difrɛn difrɛn wan bay di sayz fɔ dɛn ol ya.

Sɔm pipul dɛn kin gɛt sik bak we dɛn kɔl kadyak kɔndɔkshɔn. Dis kin afɛkt di ilɛktrik impuls dɛm we de kɔntrol di at in ritm. Dis kin mek yu at rit we nɔrmal (bradycardia) ɔr at bit fast, nɔr de bit ɔltɛm (atrial fibrillation). Dis kכndyushכn kin de we dεn bכn am כ de divεlכp as tεm de go. So i impɔtant fɔ mek yu mɛdikal tim de wach dis ɔlsay na yu layf.

At sik wae gɛt fɔ du wit Holt-Oram syndrome kin mek yu gɛt sɔm sayn dɛm bak lɛk:

• Fɔ nɔ ebul fɔ go bifo.
• Taya pasmak, taya.
• di ay blɔd prɛshɔn na di lɔng dɛn (pulmonary hypertension).
• Shot we yu de blo.
• Shot we yu de blo.

Wetin mek di Holt-Oram Syndrome kin apin?

bכku tεm, di men kכz fכ Holt-Oram sεndr כm na chenj, כ mכtεshכn, insay wan jin we dεn kכl `TBX5` . dis `TBX5` jin de prodyuz wan protin we nid fכ divεlכp di כp pat dεm (an, an) we di pikin de divεlכp. כlso, dis protin implεnt fכ di prכsεs fכ sheb di at to fכ chεmba dεm. Fɔ tɔk di kɔrɛkt tin, na di jin dɛn de kɔntrol ɔltin na wi bɔdi. So, dεn prכblεm ya kin kam we chenj de na dis patikyula jin.

dis `TBX5` jin mכtayshכ n kin pas dכn frכm jεnereshכn to jεnereshכn (inhεrit) . Dis min se if di mama ɔ di papa gɛt dis sik, chans de fɔ mek di pikin sɛf gɛt am. Bɔt bɔku tɛm, dis kin apin we nyu jin chenj apin we nɔbɔdi na di famili nɔ bin dɔn gɛt dis sik bifo . Dis min se i kin apin we yu nɔ gɛt ɛni famili istri.

Bɔt sɔmtɛm pipul dɛm wae gɛt Holt-Oram syndrome nɔr kin ebul fɔ fɛn di muteshon na di TBX5 jin. Sayɛnsman dɛn stil nɔr ɔndastand gud gud wan aw dɛn pipul ya kin gɛt dis sik. dεn tink se i kin bi biכs fכ di mכtεshכn dεm na כda protin dεm we de wok wit TBX5.

Aw dɛn kin no dis sik kɔrɛkt wan? (Diagnosis) .

Dɔktɔ kin tink se di sik we dɛn kɔl Holt-Oram syndrome dɔn du afta dɛn dɔn chɛk in bɔdi ɛn in famili istri. Dɔn, dɛn kin du sɔm tɛst fɔ no if pɔsin gɛt di sik, lɛk:

• Medikal imej: Tin dɛn lɛk X-ray fɔ yu an, yu an, ɛn yu an.
• Echocardiogram (Echocardiogram - echo): Dis de tek pikchɔ fɔ di at fɔ si if ɛni prɔblɛm de wit in strɔkchɔ ɔ di akshɔn we i de pɔmp. I tan lɛk we dɛn de du ɔltra saund skan na di at.
• Ilɛktrokardiogram (ECG ɔ EKG): Dis de sho aw yu at de wok wit ilɛktrik. Dis min se yu fɔ chɛk di ritm ɛn di spid we yu at de bit.
• Jεnεtik tεst: dεn kin du dis tεst fכ kכnfכm if jεnεtik mכtεshכn de. Bɔku tɛm, dɛn kin du dis bay we dɛn tek blɔd sɛmpul.

Sɔm pipul dɛn kin gɛt di sik we dɛn kɔl Holt-Oram syndrome we dɛn na bebi . Ɔda wan dɛn kin no se dɛn gɛt dis sik leta na dɛn layf . Dis kin apin we dɛn gɛt at simptom ɔ we dɛn no se dɛn bon nɔ de wok fayn wan we dɛn de du ɔda mɛdikal tɛst. Fɔ ɛgzampul, pɔsin kin go to dɔktɔ wit shɔt briz ɛn wantɛm wantɛm i kam fɔ no se ol de na in at ɔ in bon nɔ de wok fayn na in an.

Yu tink se tritmɛnt de fɔ dis? (Tritmɛnt)

Fɔ tɔk tru, naw, no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl Holt-Oram Syndrome. Bɔt di tritmɛnt kin dipen pan us sayn dɛn yu gɛt ɛn aw dɛn kin tranga. Nɔr wɔri, bɔrku tin de wae yu kin du fɔ kɔntrol yu sik ɛn mek yu layf izi.

Sɔm pipul dɛn kin gɛt sɔm kayn sik wae nɔr kin pasmak ɛn nɔr nid ɛni spɛshal tritmɛnt. Bɔt ɔda pipul dɛn nid bɔku dɔktɔ ɛn tritmɛnt . Di men gol dɛm fɔ tritmɛnt na fɔ yuz di an ɛn an bak as i pɔsibul ɛn fɔ mek dɛn nɔ gɛt prɔblɛm dɛn we kin apin na di at.

Di tritmɛnt kin inklud dɛn tin ya:

• Antiarrhythmic mεdikeshכn na mεdikeshכn dεm we de kכntro di at rεt εn ritm.
• Fɔ put wan mɛrɛsin we dɛn kin yuz fɔ mɛn pipul dɛn lɛk pɔsin we de mek di at, fɔ kɔntrol di at rit ɛn ritm.
• Ɔpreshɔn fɔ mek wan ol na di at fayn.
• Kɔrɛkt di bon dɛn we nɔ de wok bay we yu wɛr bres ɔ du ɔpreshɔn.
• Fɔ fit atifishal pat (prostɛtik) fɔ riples di pat dɛn we nɔ de na di an ɔ an.

Pɔsin wae gɛt dis sik kin nid fɔ gɛt ɛp frɔm bɔrku spɛshal pipul dɛm. Dis min se na wan tim de gi tritmɛnt, nɔto jɔs wan dɔktɔ. Dis tim kin gɛt:

• Di wan dɛn we de mɛn at ɛn di wan dɛn we de du ɔpreshɔn pan di at: Dɛn sabi bɔt at sik dɛn.
• Ɔtpidik ɔspitul dɔktɔ dɛn: Dɛn sabi bɔt bon sik dɛn .
• Pikin dɛn: Dɔktɔ dɛn we de trit sik dɛn na pikin dɛn.
• Occupational therapists: Pipul wae de ɛp pipul dɛm fɔ du ɛvride wok lɛk fɔ it ɛn rayt izi wan.
• Fyzikal thɛrapist dɛm: Dɛn wan dɛm wae de ɛp fɔ mek di bɔdi pat dɛm wae gɛt abnɔmal tin dɛm strɔng ɛn fɔ mek dɛn wok fayn fayn wan.

Naw luk, wit di ɛp fɔ ɔl dɛn pipul ya, di pɔsin we sik kin gɛt di sɔpɔt we i nid fɔ liv di bɛst layf.

Aw layf go tan lɛk wit dis sityueshɔn? (Autluk/Prɔgnosis)

Di prɔgnosis fɔ pipul dɛm wae gɛt Holt-Oram Syndrome kin rili chenj . Dat min se nɔto ɔlman na di sem. Sɔm pipul dɛn kin gɛt smɔl smɔl tin dɛn we nɔ kin apin na dɛn an ɛn dɛn kin ebul fɔ wok nɔmal wan ɛn dɛn nɔ kin gɛt ɛnitin fɔ du wit dɛn bɔdi. Bɔt ɔda wan dɛn kin gɛt bɔku prɔblɛm dɛn wit dɛn bon .

Bɔt lɛk 75% pan di pipul dɛm wae gɛt dis sik kin gɛt wan strɔkchɔral dɛfekt we dɛn bɔn wit na dɛn at . Sɔm pipul dɛn nɔ kin gɛt ɛni sayn ɛn dɛn kin jɔs nid fɔ go to dɔktɔ we de mɛn dɛn at ɔltɛm fɔ mek dɛn wach dɛn. Bɔt sɔm at prɔblɛm dɛn kin mek pɔsin in layf de pan denja ɛn i kin nid fɔ du ɔpreshɔn. Na dat mek i rili impɔtant fɔ fala yu dɔktɔ in instrɔkshɔn dɛn di rayt we.

Yu tink se dɛn go ebul fɔ stɔp dis?

Bɔrku tɛm, na wan jɛnɛtik muteshɔn kin kam wit Holt-Oram Syndrome, so dɛn nɔr kin ebul fɔ avɔyd am kpatakpata . If yu gɛt di sik ɛn yu gɛt bɛlɛ, yu pikin gɛt lɛk 50% chans fɔ pas di muteshon . Dis min se lɛk wan pan ɔl tu pikin dɛn go gɛt dis sik. Bɔt we dɛn du di jɛnɛtik tɛst bifo dɛn bɔn pikin, dɛn kin no di muteshon. Yu dɔktɔ kin tɛl yu bak fɔ advays yu fambul dɛn bɔt yu jɛnɛtiks. Dis go ɛp fɔ tich ɔda pipul dɛn na di famili bɔt di sik ɛn gayd dɛn fɔ du tɛst if nid de.

Aw wi as famili kin ajɔst to dis tin?

We bɔdi chenj na di we aw dɛn de luk, mɔ pan pikin dɛn, dɛn kin shem ɛn nɔ gɛt bɛtɛ rɛspɛkt fɔ dɛnsɛf . I kin afɛkt dɛn padi biznɛs wit ɔda pipul dɛn bak. Na sɔm tin dɛn we yu kin du fɔ ɛp di tɛm lɛk dis:

• Si pɔrsin wae sabi bɔt mɛntɛl hεlth : Yu pikin kin gɛt ɛp fɔ ɔndastand ɛn kɔntrol aw i de fil.
• Tɔk wit yu pikin opin wan bɔt di sik: Ɛksplen am to am wit simpul wɔd dɛn, di we aw i go ɔndastand. Se tin dɛm lɛk, "Yu gɛt smɔl difrɛns na yu an, na sɔntin we dɛn bɔn yu wit, ɛn nɔto yu fɔlt."
• Tɛl di pipul dɛm we di pikin de nia: Tɛl di ticha dɛm, padi dɛm, ɛn fambul dɛm bɔt di sik so dat dɛnsɛf go ebul fɔ sɔpɔt di pikin.
• Join sɔpɔt grup ɔ nashɔnal advokesi ɔganayzeshɔn: Dis go ɛp yu fɔ mit ɔda famili dɛn we de go tru di sem tin lɛk yu ɛn sheb yu ɛkspiriɛns.
• Mek shɔ se yu pikin gɛt plan na skul fɔ sɔpɔt am fɔ lan ɛn fɔ de wit ɔda pipul dɛn, fɔ fri frɔm buli: Tɔk to ticha dɛn ɛn mek shɔ se dis apin.
• Praktis fɔ ansa kwɛstyɔn dɛn we pɔsin aks yu bɔt dis: Fɔ ɛgzampul, yu kin praktis fɔ gi simpul ansa lɛk, "Dɛn bɔn mi wit difrɛn an bon pas ɔlman."

Holt-Oram syndrome na wan sik wae de mek yu bon dɛm nɔr de woke fayn na yu an, yu an, ɛn yu an, ɛn yu kin gɛt at sik. If yu pikin gɛt dis sik, dɔktɔ dɛn kin tɔk bɔt aw fɔ mek in an ɛn an dɛn wok fayn . Dɛn kin skan ɔda pipul dɛm na dɛn famili bak fɔ ɛp fɔ mek dɛn nɔ gɛt prɔblɛm wit dɛn at prɔblɛm.

Fɔ dɔn, wetin fɔ mɛmba (Take-Home Message) .

Holt-Oram Syndrome na wan kɔmpleks ɛn nɔr kin bɔku. Bɔt i impɔtant fɔ no bɔt am, mɔ if pɔsin na yu famili gɛt prɔblɛm wit in an ɔ at we yu nɔ ɛksplen . Mɛmba se, di mɔ yu no dis sik kwik kwik wan, na di mɔ i go izi fɔ gɛt di tritmɛnt ɛn sɔpɔt we yu nid fɔ bia wit am.

Nɔ ɛva fil se na yu wangren de. If dɔktɔ, tritmɛnt pipul, ɛn sɔpɔt grup dɛn ɛp yu, yu go ebul fɔ bia wit dis sik fayn fayn wan. Di men tin na fɔ fala di kɔrɛkt advays we dɔktɔ gi yu ɛn kɔntinyu fɔ tink gud wan.

If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ shek fɔ tɔk to yu dɔktɔ. Dɛn go gi yu ɔl di tin dɛn we yu nid.

` Holt-Oram Syndrome, an abnכmaliti, at sik, jεnεtik mכtεshכn, bכn dεfεkt, bon prכblεm