Blɔm Sindrom: Yu no bɔt dis kayn sik we nɔ kin apin to yu jɛnɛtiks?

Yu dɔn ɛva yɛri bɔt Blɔm Sindrom? Sɔntɛm dis nem na nyu tin to yu smɔl. Fɔ tru, i nɔ kin bɔku, we min se na smɔl pipul dɛn nɔmɔ dɛn dɔn ripɔt am ɔlsay na di wɔl. Bɔt i rili impɔtant fɔ no dis, bikɔs na jɛnɛtik kɔndishɔn we kin afɛkt sɔm sistɛm dɛn na wi bɔdi. So, lɛ wi tɔk bɔt am ditayli ɛn jɔs tide.

Wetin na Blɔm Sindrom?

Fɔ tɔk am simpul wan, Blɔm Sindrom na wan sik we dɛn kin gɛt frɔm mama ɛn papa to pikin dɛn. dis de kכz fכ wan mכtεshכn na di BLM jin na wi bכdi, we de mek i nכ de wok fayn fayn wan. Dis kin mek chenj na difrεn sistεm dεm na di bכdi, lεk fכ gro εn di imyun sistεm.

Pipul wae de liv wit dis sik kin gɛt infekshɔn bɔrku bɔrku. Dɛn kin gɛt bak big big divɛlɔpmɛnt we kin delay, dɛn kin fil lɛk di san, ɛn dɛn kin gɛt kansa mɔ ɛn mɔ . Dis kin tan lɛk se yu de mek yu fred, bɔt i impɔtant fɔ no bɔt dis ɛn tek di step dɛm we yu nid.

Udat dɛn dis kayn tin kin afɛkt mɔ?

Blɔm Sindrom na wan sik wae nɔr kin bɔrku wae kin afɛkt ɛni etnik grup na di wɔl. Bɔt wan risach dɔn sho se i kin apin mɔ pan pipul dɛn we kɔmɔt na di Ist Yuropian Ju pipul dɛn, we dɛn kɔl Ashkenazi. Bɔt dis nɔ min se nɔbɔdi nɔ go ebul fɔ gɛt am. Naw, nɔr pas 300 pipul dɛm wae dɛn no bɔt dis sik ɔlsay na di wɔl. So yu kin si aw i nɔ kin bɔku.

Aw Blɔm Sindrom kin afɛkt yu ɔ yu pikin?

Nɔto ɔlman wae gɛt dis sik go gɛt di sem kayn sik. Sɔm pipul dɛn nɔ kin gɛt bɛtɛ sayn, ɛn ɔda wan dɛn kin gɛt dis sik bad bad wan. Bɔt sɔm tin dɛn de we kin apin we pipul dɛn kin gɛt dis sik.

Di tin dɛn we pɔsin kin si we pɔsin kin si

• Shot pas avrej ayt: Dɛn pipul ya kin gro shɔt smɔl pas di avrej pikin.
• Wan smɔl fes ɛn big yes: Yu kin si sɔm difrɛns dɛn pan di shep we di fes gɛt.
• Wan ay vɔys: Sɔntɛm difrɛns de pan di vɔys.

Wɛlbɔdi kɔndishɔn wae kin mek pɔrsin gɛt bɔrku prɔblɛm

Apat frɔm dɛn kayn bɔdi ya, pipul dɛm wae gɛt Blɔm Sindrom kin gɛt sɔm ɔda wɛl bɔdi prɔblɛm dɛm.

• Chronic Obstructive Pulmonary Disease (COPD): Prɔblɛm kin kam wit di lɔng tɛm fɔ lɔng tɛm.
• Infεkshכn we yu kin gεt bכku tεm: Infεkshכn, spεshal wan na di yes εn lכng, kin apin bכku tεm. Dis kin bi bikɔs ɔf sɔm wikɛd tin dɛn we de na dɛn imyun sistɛm.
• Insulin rɛsistɛns ɛn dayabitis mɛlitɔs:Risk de fɔ mek yu gɛt tin dɛn lɛk dayabitis.
• Skin rash ɔr lɛsin we dɛn de na di san: Sɔm pipul dɛn kin gɛt rɛd, lɛk ɛkzema we dɛn de na di san.

Lɛ wi no bak bɔt di risk fɔ gɛt kansa.

Dis na di siriɔs tin wae gɛt fɔ du wit Blɔm Sindrom. Pipul wae gɛt dis sik kin gɛt bɔrku kayn kansa wae dɛn yɔŋ pas di avɛrej pɔrsin. Dɔn bak, i pɔsibul fɔ mek yu gɛt pas wan kansa. So, wi fɔ pe atɛnshɔn mɔ to dis.

Sɔm pan de kayn kansa wae de mek yu denja pas ɔl na:

• Wilms tumor - Dis na wan kayn kansa we de apin na di kidni.
• gεstrointestinal kεnsar - dat na, kansa dεm na di intestinal εn bεlε.
• Lukimiya - Na kansa we gɛt fɔ du wit di blɔd.
• Limfoma - na kansa we de na di limfatik sistɛm.
• Osteosarcoma - Na kansa we de apin na di bon dεm.
• Skin kansa - spεshal wan kayn we dεn kכl squamous cell kansa.

Na nɔmal tin fɔ fil fɔ fred we yu yɛri bɔt dɛn kansa ya. Bɔt fɔ chɛk dɛn ɔltɛm lɛk aw yu dɔktɔ tɛl yu fɔ no , dat kin ɛp fɔ no dɛn kwik kwik wan. Dis kin mek di chans fɔ gɛt tritmɛnt bɔku.

Ɔda nem dɛn de fɔ Blɔm Sindrɔm?

Yes, sɔmtɛm dɔktɔ dɛn kin kɔl dis sik "Bloom-Torre-Machacek syndrome." wan ɔda nem na "congenital telangiectatic erythema." Pan ɔl we dis nem kin tan lɛk se i kɔmplikt smɔl, di nem we dɛn kin yuz mɔ na Blɔm Sindrom.

Wetin na di rizin we mek dis kayn tin de apin? Lɛ wi tek tɛm luk gud wan.

As wi bin dɔn tɔk, Blɔm Sindrom na wan sik we de mek pɔsin gɛt jɛnɛtiks. Dat min se na bikɔs ɔf wan bad tin we de na di jin dɛn we wi gɛt frɔm wi mama ɛn papa. Ɛni wan pan wi sɛl dɛn gɛt sɔntin we dɛn kɔl kromozom. na dεn kromozom dεm ya de kip wi jεnεtik infכmeshכn.

Wan jin we dɛn kɔl BLM kin afɛkt di Blɔm Sindrɔm spɛshal wan. dis jin de ɛp fɔ mek wi DNA fayn ɛn fɔ mek di kromozom dɛn kɔntinyu fɔ tinap tranga wan. imajin, if dis BLM jin nכ de wok fayn, chans de fכ mek DNA mistek apin we wi sεl dεm divayd. Na dat na di men tin we kin mek pɔsin gɛt dis sik.

If di mama ɛn papa ɔl tu gɛt muteshon na di BLM jin (dat na, na dɛn de kɛr di sik), den we dɛn bɔn pikin, 1 pan 4 chans de fɔ mek di pikin gɛt di sik wit ɛni bɛlɛ . dis min se di Blum Sindrom de apin nכmכ if di pikin gεt כl tu di kכpi dεm fכ di mutated BLM jin frכm di mama εn di papa.

Wetin na di sayn dɛm wae de sho se yu gɛt Blɔm Sindrom?

Dis sik kin mek yu gɛt difrɛn kayn sayn dɛm. Nɔto ɔlman go ɛkspiriɛns dɛn ɔl. Sɔm sayn dɛn kin rili klia, bɔt ɔda wan dɛn kin bi mɔ klia.

Di sayn dɛm we dɛn kin si bɔku tɛm na:

• Ɛnitin we nɔ fayn na di fes, di jaw eria, ɛn di yes: fɔ ɛgzampul, fes we smɔl, big yes.
• di chenj dεm na di εndokrin sistεm εn di imyun sistεm: di chenj dεm na di כmon fכ wok εn di rεsistεns fכ sik.
• Di divɛlɔpmɛnt ɛn intɛlektual dilɛys: Sɔm pikin dɛn kin gɛt prɔblɛm fɔ lan.
• If yu fil bad pasmak to di san: Ivin if yu de na di san fɔ shɔt tɛm, dat kin mek yu skin bɔn ɛn tɔn rɛd.
• Infεkshכn we kin kam bכku tεm: εspεshali infεkshכn na yu yes εn infεkshכn na di lכng (lεk nyumonia) kin apin bכku tεm.
• di prכblεm dεm we de fכ gro we di pikin de gro כ afta dεn bכn am: di pikin kin lכs in wet εn ayt כl tu insay di bεlε εn afta dεn bכn am.
• Prɔblɛm dɛn na di skin: Rɛd spat, rash, ɛn rash, mɔ we yu de na di san. Sɔntɛnde, dɛn tin ya kin skata akɔdin to di chɛst ɛn nos we tan lɛk bɔtaflay.

Aw dɔktɔ dɛn kin no bɔt dis sik?

Sɔntɛnde, dɛn kin no di sik we di pikin stil de na di bɛlɛ. fכ egzampl, if dεn skan sho se di pikin nכ de gro lεk aw dεn bin de tink, dכkta dεn kin se dεn go du spεshal tεst, lεk jεnεtik amniocentesis, we de luk di pikin in jin dεm.

Ɔ, afta dɛn bɔn di pikin, yu ɔ di dɔktɔ we de mɛn pikin dɛn we de si di pikin kin notis sɔm pan dɛn sayn ya. Na da tɛm de dɛn kin advays fɔ du mɔ tɛst.

Wetin na di tɛst dɛn we dɛn kin du fɔ no if pɔsin gɛt sik?

Dɔktɔ dɛn go du fɔs fɔ chɛk di pikin in bɔdi. Dɔn, dɛn kin du blɔd tɛst fɔ chɛk aw di kromozom dɛn tan. dis kin no fכ sכri if difεkt de na di BLM jin.

Wetin na di tritmɛnt fɔ Blɔm Sindrom?

Fɔ tɔk tru, no patikyula tritmɛnt nɔ de we go ebul fɔ mɛn Blɔm Sindrom kpatakpata. Di tritmɛnt dɛm we dɛn de gi naw na fɔ mɛn di sik dɛm ɛn fɔ protɛkt frɔm di prɔblɛm dɛm we kin apin.

• Prɔblɛm dɛn we gɛt fɔ du wit it na yɔŋ pikin dɛn: Bebi dɛn we gɛt dis sik kin gɛt lɔs fɔ it ɛn dɛn kin lɔs dɛn wet. So, dɔktɔ dɛn kin tɛl yu fɔ it ɛkstra wata ɛn it dɛn we gɛt fayn fayn tin dɛn fɔ mek yu nɔ gɛt wata na yu bɔdi ɛn fɔ mek yu nɔ gɛt bɛtɛ it.
• Fɔ Skrin Kansa: As wi bin dɔn tɔk, bikɔs i kin gɛt bɔku kansa, dɔktɔ dɛn kin se yu fɔ chɛk yu kansa ɔltɛm . Dis kin ɛp fɔ no kansa kwik kwik wan if i kam.
• Antibayɔtik fɔ infɛkshɔn:Bikɔs infɛkshɔn kin apin bɔku tɛm, dɛn kin nid antibayɔtik fɔ trit dɛn.

Yu tink se we de fɔ mek dis tin nɔ apin?

Blɔm Sindrɔm na wan sik we pɔsin kin gɛt we i kam pan pɔsin in jɛnɛtiks, we min se na pɔsin kin gɛt am, so natin nɔ de we wi go du fɔ mek i nɔ apin. Wi nɔ go ebul fɔ stɔp di jin we de chenj.

Bɔt if yu ɛn yu patna de plan fɔ bɔn pikin, dɛn kin du advays bɔt yu jɛnɛtiks ɛn tɛst yu jɛnɛtiks. Dis kin ɛp yu fɔ no if una ɔl tu gɛt di BLM jin muteshɔn we gɛt fɔ du wit Blɔm Sindrom, we min se una na di wan dɛn we de kɛr di sik. Dis kin ɛp yu fɔ ɔndastand di risk fɔ pas di sik to pikin we yu go gɛt tumara bambay.

Wetin a fɔ ɛkspɛkt if mi ɔ mi pikin gɛt Blɔm Sindrom?

If yu gɛt Blɔm Sindrom, yu kin gɛt sɔm kayn kansa, bɔku tɛm we yu yɔŋ. Infakt, di men tin we kin mek pipul dɛn we gɛt dis sik day na di prɔblɛm dɛn we kin kam wit kansa. Bɔt di mɔ we dɛn no di kansa kwik kwik wan, na di mɔ di chans fɔ mek dɛn gɛt di tritmɛnt we go wok fayn. So, i impɔtant fɔ mek yu de chɛk yu kansa ɔltɛm lɛk aw yu dɔktɔ tɛl yu.

Pipul wae gɛt Blɔm Sindrɔm kin rili fil fayn to ayɔniz raytin. Dis raytin kin pwɛl di sɛl dɛn. So, yu dɔktɔ kin advays yu fɔ avɔyd ɔ stɔp fɔ yuz dɛn kayn raytin ya:

• CT skan we dɛn kin du
• X-ray we dɛn kin du

If yu gɛt kansa, Blɔm Sindrɔm kin afɛkt yu kansa tritmɛnt. Dɔktɔ dɛn kin advays pipul dɛn we gɛt dis sik fɔ avɔyd fɔ tek redyushɔn tɛrapi.

Yu tink se dɛn kin mɛn Blɔm Sindrom?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ di Blɔm Sindrom. If yu ɔ yu pikin gɛt dis sik, na tin we de apin to yu ɔl in layf. Bɔt dis nɔ min se yu fɔ lɛf fɔ gɛt op. Bɔrku pipul dɛn kin liv wit dis sik te dɛn big. De tin wae impɔtant pas ɔl na fɔ kɔntrol di sik dɛm ɛn no bɔt di prɔblɛm dɛm wae kin kam.

Aw a go kia fɔ misɛf ɔ mi pikin we gɛt Blɔm Sindrom?

Di tin we impɔtant pas ɔl na fɔ fala wetin yu dɔktɔ tɛl yu fɔ du. Dɛn go ɛp fɔ mek yu ɛn yu pikin gɛt wɛlbɔdi as yu ebul.

Speshali, mɛmba fɔ put tin dɛn we de protɛkt yu frɔm di san, wɛr klos we de kɔba yu skin, ɛn wɛr hat ɛnitɛm we yu go na do na di san. Dis kin ɛp fɔ mek di san nɔ pwɛl yu skin.

Fɔ was yu an ɔltɛm ɛn fɔ de fa frɔm say dɛn we pipul dɛn kin gɛda as yu ebul, dat kin ɛp bak fɔ protɛkt yu frɔm infɛkshɔn. Dɔn bak, fɔ it fayn it ɛn fɔ slip fayn rili impɔtant fɔ yu wɛlbɔdi.

Fɔ dɔn, mɛsej we yu kin kɛr go na os

Blɔm Sindrom na wan sik wae nɔr kin bɔrku, wae kin mek pɔrsin nɔr de gro fayn, in fes nɔr kin fayn, in skin kin gɛt rash, ɛn kin gɛt infekshɔn ɔltɛm. Di tin wae impɔtant pas ɔl na dat, pipul dɛm wae gɛt dis sik kin gɛt bɔrku kayn kansa.

If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, ɔ if yu tink se yu pikin gɛt ɛni wan pan dɛn sik ya, mek shɔ se yu go to dɔktɔ fɔ advays. Tɔk to yu dɔktɔ bɔt fɔ gɛt kansa skrinin ɔltɛm ɛn wetin yu kin du fɔ gɛt wɛlbɔdi. Mɛmba se, fɔ no bɔt dis sik kwik kwik wan ɛn fɔ mɛn am fayn fayn wan na di bɛst we fɔ liv fayn wit dis sik. Nɔ wɔri, dɔktɔ dɛn de ya fɔ ɛp.

` Blɔm sindrom, jɛnɛtik sik, BLM jin, kansa risk, sɛnsitiviti to san layt, growth retardation, infɛkshɔn ɔltɛm