Yu pikin gɛt dis sik we nɔ kin apin so ɔltɛm? Lɛ wi lan bɔt di sik we dɛn kɔl Shwachman-Diamond syndrome (SDS) .

Yu smɔl pikin de sik ɔltɛm? Nɔto fɔ gɛt mɔ wet? Ɔ yu de notis ɛni chenj na dɛn bon dɛn? Sɔntɛnde, dis kin bi bikɔs ɔf Shwachman-Diamond syndrome (SDS), we na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt pikin dɛn. Lɛ wi tɔk bɔt dis simpul we we yu go ɔndastand.

Wetin na di sik we dɛn kɔl Shwachman-Diamond syndrome (SDS)?

Fɔ tɔk am simpul wan, Shwachman-Diamond syndrome (SDS) na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt di pankrias, bon mɛro, ɛn bon dɛn mɔ na pikin dɛn. Bɔku tɛm dɛn kin no am bifo pikin ol wan ia. Bɔt sɔntɛnde, dɛn kin no am pan yɔŋ pipul dɛn.

SDS na sik we nɔ izi fɔ no ɛn trit bikɔs i kin mek yu gɛt difrɛn difrɛn sayn dɛn. Pikin kin gɛt wan, sɔm, ɔ ɔl dɛn sik ya. Fɔ ɛgzampul, wan pikin kin gɛt prɔblɛm wit in pankrias ɛn in bon dɛn, ɛn ɔda pikin kin jɔs gɛt prɔblɛm wit in bon mɛro ɛn bon dɛn.

Na sik bak we pɔsin nɔ kin ebul fɔ no bɔt . Di sayn dɛm we pikin dɛn kin gɛt kin smɔl ɔr kin tranga. Dɛn sayn ya kin chenj as tɛm de go. Bikɔs pikin dɛn we gɛt SDS gɛt difrɛn prɔblɛm dɛn wit dɛn mɛrɛsin, bɔku pikin dɛn nid fɔ gɛt ɛp frɔm wan tim we gɛt spɛshal dɔktɔ dɛn . Pan ɔl we pikin dɛn we gɛt dis sik go nid fɔ gɛt mɛrɛsin fɔ ɔl dɛn layf, bɔku tɛm dɛn kin liv nɔmal layf. Bɔt sɔm pikin ɛn yɔŋ pipul dɛn kin gɛt blɔd kansa we kin mek dɛn layf de pan denja (Acute Myeloid Leukemia) ɔ wan siriɔs blɔd disɔda (Myelodysplasia).

Dis na tin we pipul dɛn kin gɛt?

I at fɔ tɔk fɔ tru. Dɔktɔ dɛn kin tek Shwachman-Diamond syndrome as sik we nɔ kin apin so ɔltɛm. Bɔt na rough estimat nɔmɔ de fɔ ɔmɔs pikin dɛn gɛt dis sik. Sɔm pipul dɛn se dis sik na wan pan ɛvri 75,000 pikin dɛn we dɛn bɔn . Di rizin fɔ dis rɔf ɛstimat na dat pikin dɛn kin gɛt smɔl ɔ siriɔs simptom dɛm, nɔto ɔl pikin dɛn gɛt di sem sɛt ɔf simptom dɛm, ɛn nɔr wan, difinitiv tɛst nɔr de fɔ no di sik.

Yu tink se big pipul dɛn kin gɛt Shwachman-Diamond syndrome (SDS) bak?

Nɔ lɛk sɔm mɛrɛsin prɔblɛm dɛn we kin apin to pikin dɛn, di sik we dɛn kɔl Shwachman-Diamond syndrome nɔ kin dɔn we pikin dɛn de ol. Di sayn dɛm ɛn tritmɛnt kin chenj as tɛm de go, bɔt pikin dɛm wae gɛt dis sik go nid fɔ gɛt mɛrɛsin fɔ ɔl dɛn layf .

Aw dis sik kin afɛkt mi pikin in bɔdi?

Shwachman-Diamond syndrome kin mek yu gɛt bɔku prɔblɛm dɛn we yu gɛt wit yu mɛrɛsin, bɔt tri men tin dɛn de we kin apin to yu:

1. Eksokrin pankrεas insufisεns:Yu pikin in pankrias na wan ɔgan we de biɛn di bɛlɛ. i gεt wan kayn sεl we dεn kכl acinar sεl dεm. dis sεl dεm de mek εnzym dεm we de εp fכ digεst it. dis εnzym dεm de brok dכn di nyutriεnt εn fεt dεm we de insay it so dat di bכdi go ebul fכ tek dεm. pan pikin dεm we gεt SDS, di pankrias nכ de prodyuz inof pan dεn εnzym dεm ya. Dis kin mek di pikin nɔ kin gɛt di tin dɛn we i nid.

2. di bon mכro nכ de wok fayn: Yu pikin in bon mכro de mek rεd bכdi sεl dεm, wayt blכd sεl dεm, εn pletlεt dεm. pan pikin dεm we gεt SDS, di bon mכro de prodyuz sכm pan dεn sεl dεm ya pas nכmal. Speshali, i nɔ de mek inof pan wan kayn wayt blɔd sɛl we dɛn kɔl nyutrofil . Nyutrofil na sεl dεm we nכmal fכ protεkt di bכdi frכm invayda dεm lεk baktri dεm. Sɔm pikin dɛm we gɛt SDS nɔ gɛt inof nyutrofil fɔ fɛt dɛn baktri dɛm ya we de kam insay. Dɛn kɔl dis sik nyutropenia . Pikin dεm we gεt nyutropenia kin gεt baktriyal infεkshכn lεk nyumonia, midul ia infεkshכn, כ skin infεkshכn.

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Wetin na di kɔmplikɛshɔn dɛm wae de kam wit Shwachman-Diamond syndrome (SDS)?

Pipul dεm we gεt dis kכndyushכn kin gεt bכku risk fכ gεt abn כmal bכdi sεl dεm (`(myelodysplasia)`) . dis kin leta divεlכp to bכdi kεnsar we dεn kכl `(acute myeloid leukemia)` .

Wetin na di sayn dɛm wae de sho se yu gɛt Shwachman-Diamond syndrome (SDS)?

Dis sik kin afɛkt sɔm pat dɛn na di pikin in bɔdi. Bɔt di tin dɛn we kin apin mɔ na di pankrias, bon mɛro, ɛn di skel sistɛm. Sɔm pipul dɛn kin gɛt dis sik we dɛn bɔn dɛn, we dɛn smɔl, ɔ we dɛn smɔl. Smɔl pipul dɛn kin gɛt dis sik we dɛn yɔŋ.

Di sayn dɛn we kin apin:

• Failure to thrive: Dis min se yu pikin nɔ de gɛt wet. Insay di kes fɔ SDS, dis kin bi bikɔs i nɔ de digest fayn.
• Taya: Bebi we taya kin vɛks ɛn taya.
• Big stɔl we gɛt ɔyl ɛn we de smɛl fayn: Yu pikin in stɔl kin big pasmak, i kin tan lɛk ɔyl, ɛn i kin gɛt dɔti smel.
• Siriɔs infɛkshɔn we kin kam bak: If baktriyal infɛkshɔn kin kɔntinyu fɔ apin, i kin bi wan sayn fɔ SDS.
• di chenj dεm we wi kin si na di bon dεm na di an εn leg dεm: di pikin dεm in an εn leg kin sכt we yu kכmpεr dεm wit dεn torso.

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Shwachman-Diamond syndrome (SDS)?

bכt 90% pan di pikin dεm we gεt SDS gεt mכtεshכn na di `SBDS` jin . stכdi dεn sho se dis mכtεshכn kin kכmכt frכm di tu mama εn papa dεm (`(autosomal recessive manner)`) כ frכm wan mama εn papa εn nyu mכtεshכn de apin. di risach pipul dεm stil nכ no εksεktεli wetin mek mכtεshכn dεm na di `SBDS` jin de mek SDS.

Aw dɔktɔ dɛn kin no bɔt dis sik?

Dɔktɔ dɛn go du wan ɛgzam fɔ yu pikin fɔ no if yu pikin gɛt wɛlbɔdi. Dɛn go mɛzhɔ yu pikin in ayt ɛn wet ɛn kɔmpia am to di rit we ɔda pikin dɛn we dɛn ej de gro. Dɛn kin du dɛn tɛst ya bak:

• kכmplit bכdi kכnt (CBC) wit difrεns: Dis de kכnt di pikin in bכdi sεl dεm, spεshal wan כl di wayt bכdi sεl dεm.
• Pankrias fכnshכn tεst: Dכkta dεm kin analכz yu pikin in stכl sεmpl כ du imej tεst lεk kכmpyuta tomografi (CT) skan.
• Blɔd tɛst fɔ chɛk di vaytamɛn lɛvɛl.
• X-ray: Dɛn kin tek ɛkstrem rayt fɔ chɛk if i gɛt prɔblɛm wit in bon, mɔ na di pikin in hip ɔ in leg.
• Jɛnɛtik tɛst: Fɔ no di jenɛtik chenj we kin mek pɔsin gɛt SDS, dɔktɔ dɛn kin chɛk di pikin in blɔd, in skin, in ia, ɔ in tisu fɔ no if di pikin gɛt dis sik.

Aw dɛn kin trit dis sik?

Shwachman-Diamond syndrome kin afɛkt yu pikin bɔku we dɛn. fכ egzampl, pikin nכ kin ebul fכ daygεst it biכs fכ prכblεm wit di pankrias, bכt dεn bon mכro kin wok nכmal wan. Di sayn dɛm kin bi smɔl ɔr kin tranga. Dɔktɔ dɛn kin trit dɛn chenj ya bay aw di sik kin tranga.

Fɔ pankrɛas ɛksokrin insufisɛns:

Dɔktɔ dɛn kin gi yu pikin pankrɛas ɛnzaym dɛn we yu kin it ɔ vaytamɛn dɛn we kin sɔlv fat fɔ ɛp yu pikin in bɔdi fɔ tek di tin dɛn we i nid ɛn di fat.

Fɔ bon mɛrɔ we nɔ de wok fayn:

biכs dis kכndyushכn de afekt di pikin in bon mכro, di bon mכro nכ de prodyuz inof nyutrofil dεm. Bɔku tɛm, dɔktɔ dɛn nɔ kin trit bon mɛrɔ disɔda pas di pikin gɛt siriɔs prɔblɛm dɛn. Di tritmɛnt kin inklud:

• Blɔd transfyushɔn: I de mek di blɔd sɛl dɛn bɔku.
• Plɛtlɛt transfyushɔn: I de mek di pletlɛt lɛvɛl go ɔp fɔ ɛp wit prɔblɛm dɛn we gɛt fɔ du wit blɔd.
• granulocyte-colony stimulating factor (G-CSF) : Dis tritmεnt de inkrεs di nכmba fכ nyutrofil dεm na di pikin in wayt bכdi sεl dεm.
• Stem cell transplantation: Sɔm pipul dɛm wae gɛt SDS kin gɛt blɔd kansa ɔr siriɔs blɔd dizayd. Dɔktɔ dɛn kin trit dɛn sik ya wit stem sɛl transplant.

Fɔ di skel sistɛm abnɔmaliti dɛn:

Bɔku tɛm, dɔktɔ dɛn kin wach di bon prɔblɛm dɛn we SDS kin kam wit. Sɔm pikin dɛn kin nid fɔ gɛt ɔtpidik ɔpreshɔn if dɛn gɛt siriɔs prɔblɛm.

Udat na di mɛdikal spɛshal pipul dɛm wae de trit dis sik?

Dɛn nid wan tim we gɛt spɛshal pipul dɛn fɔ trit di sik we dɛn kɔl Shwachman-Diamond syndrome. Yu pikin in tritmɛnt tim kin gɛt:

• Pikin dɛn we de mɛn pikin dɛn: Dɛn dɔktɔ ya kin trit pikin dɛn we dɛn jɔs bɔn, pikin dɛn, ɛn yɔŋ pipul dɛn. Yu pikin in dɔktɔ we de mɛn pikin dɛn go mɔs tɛl yu fɔ du tɛst fɔ no if SDS de.
• Endocrinologist dεm: Dis na pipul dεm we gεt εkspεriεns pan di εndokrin sistεm, we de afekt di pikin in divεlכpmεnt.
• Hematologists: Dɛn pipul ya na pipul dɛm wae spɛshal pan blɔd sik dɛm, inklud di sik dɛm wae kin afɛkt pikin in blɔd sɛl dɛm.
• Gastroenterologists: Dɛn dɔktɔ ya kin ɛp fɔ trit yu pikin in dijestiv sistɛm prɔblɛm dɛn.
• Jɛnɛtiks: Shwachman-Diamond syndrome na wan sik we de mek pɔsin gɛt jɛnɛtiks. Dɛn dɔktɔ dɛn ya, ɔ di wan dɛn we de advays yu pikin bɔt yu jɛnɛtiks, go arenj fɔ tɛst yu pikin dɛn jɛnɛtiks fɔ no if yu pikin gɛt sik. Dɛn kin tɛst yu ɛn sɔm pan yu pikin in blɔd fambul dɛn bak.
• Ɔtpidik spɛshal pipul dɛn: If yu pikin gɛt bon prɔblɛm we nid fɔ du ɔpreshɔn, yu go nid fɔ go to ɔtpidik spɛshal pɔsin.

A go ebul fɔ mek dis nɔ apin?

Shwachman-Diamond syndrome na wan sik we dɛn kin gɛt frɔm dɛn mama ɛn papa . If yu no se yu gɛt dis sik, i go fayn fɔ tɔk to pɔsin we sabi bɔt yu jɛnɛtiks. If yu gɛt pikin dɛn we gɛt dis sik, yu kin tink bɔt fɔ tɛst dɛn jɛnɛtiks fɔ si if yu pikin dɛn gɛt di jin we de mek dɛn gɛt SDS.

Yu tink se dɛn kin mɛn di sik we dɛn kɔl Shwachman-Diamond syndrome (SDS) ɔltogɛda?

Dɔktɔ dɛn nɔ kin ebul fɔ mɛn dis sik kpatakpata. If yu pikin gɛt dis sik, i go nid dɔktɔ fɔ di res ɔf in layf.

Aw e tan lɛk fɔ liv wit Shwachman-Diamond syndrome (SDS)?

Wi kin se di sik we dɛn kɔl Shwachman-Diamond syndrome na wan sik we nɔ de mɛn . If yu pikin gɛt dis sik, i go nid fɔ du tɛst ɛn chɛk am ɔltɛm.

• Kɔmplit blɔd kɔnt (CBC) ɛn wayt blɔd sɛl kɔnt, pletlɛt kɔnt: Dɔktɔ dɛn kin du dɛn tɛst ya ɛvri tri to siks mɔnt.
• Bɔn mɛrɔ ɛgzamin: Di dɔktɔ dɛn we de mɛn di blɔd kin du dɛn tɛst ya wan tɛm insay di ia to wan tɛm ɛvri tri ia.
• Blɔd tɛst fɔ vaytamɛn: Dɔktɔ dɛn kin mɛzhɔ di vaytamɛn dɛn we de na pikin in blɔd fɔ si if pankrias ɛnzaym tɛrapi de wok.
• Bon densitometry: Dɔktɔ dɛn kin tɛst di bon dɛnsiti bifo ɛn we i de bɔn.
• X-ray: Dɛn kin du ɛkstrem rayt fɔ chɛk if prɔblɛm de wit yu pikin in hip ɛn ni, mɔ di tɛm we i de gro kwik kwik wan.
• divεlכpmεnt asesmεnt: Sכm pikin dεm we gεt SDS kin gεt divεlכpmεnt prכblεm, lεk atεnshכn dεfisit dizayd (ADD). Dɔktɔ dɛn kin asɛs di divɛlɔpmɛnt ɛvri siks mɔnt frɔm we dɛn bɔn am te i ol 6 ia, ɛn di growth ɛvri siks mɔnt.
• Nyurosaykolojik tɛst ɛn asɛsmɛnt: SDS kin mek pɔsin gɛt kɔndishɔn lɛk atɛnshɔn dɛfisit disɔda (ADD) ɔ prɛvasiv divɛlɔpmɛnt disɔda (PDD). Dɔktɔ dɛn kin se dɛn fɔ asɛs am ɔltɛm we dɛn ol 6-8, 11-13, ɛn 15-17 ia.

Aw a go ɛp mi pikin fɔ bia wit dis prɔblɛm?

Pikin dɛm wae gɛt dis sik kin gɛt difrɛn kayn mɛrɛsin prɔblɛm. Dɛn kin nid tritmɛnt fɔ ɛp dɛn fɔ tek di tin dɛn we de mek dɛn it ɛn fat. Dɛn kin gɛt infɛkshɔn mɔ. Dɛn kin gɛt bak bon abnɔmal tin dɛm wae kin mek dɛn luk difrɛn frɔm ɔda pipul dɛm.

Ilɛk wetin na di sayn dɛm, pikin dɛm wae gɛt dis sik kin gɛt wan kɔmɔn tin fɔ wɔri – se dɛn difrɛn frɔm ɔda pipul dɛm . Dɛn kin nid tritmɛnt we go mek dɛn nɔ go na skul ɛn ɔda tin dɛn. Di we aw dɛn luk kin chenj. As yu pikin de gro, dɛn chenj ya kin mek i vɛks ɛn fil bad. We yu ɔndastand dɛn filin ya, dat go ɛp yu pikin fɔ kɔntrol aw i de fil. Sɔm pikin dɛn kin bɛnifit if dɛn tɔk to pɔsin we sabi bɔt mental wɛlbɔdi biznɛs. If yu de wɔri bɔt aw yu pikin de bia wit in sik, aks yu dɔktɔ fɔ tɛl yu wetin fɔ du.

Ustɛm a fɔ go to dɔktɔ?

If yu pikin gɛt Shwachman-Diamond syndrome, yu fɔ tray fɔ no bɔt di chenj dɛn we de apin na yu pikin in bɔdi . Bɔku tɛm, di sayn dɛm fɔ SDS kin chenj as tɛm de go. Sɔntɛnde, dɛn chenj ya kin bi sayn fɔ siriɔs prɔblɛm, lɛk kansa na blɔd.

Pikin dɛn bɔdi de chenj ɔltɛm as dɛn de go tru we dɛn smɔl, we dɛn smɔl, we dɛn de yɔŋ (espɛshali we dɛn de yɔŋ ɛn we dɛn de yɔŋ), ɛn we dɛn yɔŋ. Dɛn chenj ya nɔr kin bi sayn fɔ nyu sik ɔr sik pasmak.

Yu pikin kin go to dɔktɔ ɔltɛm.Dɛn apɔntinmɛnt dɛn de ɔltɛm na di bɛst tɛm fɔ mek yu aks kwɛstyɔn bɔt chenj dɛn we go bi sayn fɔ se yu gɛt mɔ siriɔs prɔblɛm.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

Shwachman-Diamond syndrome na wan sik wae nɔr kin bɔrku. Sɔntɛm yu nɔ go ivin no se yu gɛt am. Na sɔm kwɛstyɔn dɛn we yu kin aks yu dɔktɔ:

• Wetin mek mi pikin gɛt dis sik?
• Yu tink se i gɛt dis sik we nɔ izi fɔ am ɔ we i gɛt bad bad sik?
• Aw dis sik kin afɛkt mi pikin?
• Wetin na di tritmɛnt dɛn?
• Yu tink se di sik dɛn we mi pikin gɛt go wɔs?
• Yu tink se dɛn nid fɔ tɛst mi pikin in ɔda brɔda ɛn sista dɛn fɔ si if dɛn gɛt dɛn jɛnɛtiks?
• Yu tink se mi ɛn di ɔda pikin in ɔda mama ɔ papa we bɔn wi nid fɔ du tɛst fɔ no if wi gɛt jɛnɛtiks?
• Aw a go ɛp mi pikin fɔ manej di tritmɛnt?

Fɔ dɔn, di tin we impɔtant pas ɔl (Take-Home Message) .

Shwachman-Diamond syndrome na wan sik we nɔ kin apin so ɔltɛm, we dɛn kin gɛt frɔm dɛn mama ɛn papa, we kin afɛkt di we aw pikin dɛn kin gro, we kin gɛt baktriyal infɛkshɔn, ɛn we di bon dɛn nɔ kin wok fayn. Pan ɔl we sɔm pikin dɛn nɔ kin gɛt sɔm kayn sik, ɔl pikin dɛn we gɛt dis sik go nid fɔ gɛt mɛrɛsin fɔ ɔl dɛn layf. If yu pikin gɛt Shwachman-Diamond syndrome, yu kin fil bad bikɔs yu nɔ no wetin go apin tumara bambay. If yu de pan dis kayn tin, tɛl yu pikin in dɔktɔ dɛn bɔt wetin de mɔna yu. Dɛn kin ɔndastand aw i kin tan lɛk fɔ wɔri bɔt ɛn kia fɔ pikin we gɛt siriɔs sik, sɔntɛnde dɛn nɔ kin ɛkspɛkt. Dɛn nɔ kin jɔs ɛp yu pikin fɔ bia wit di sik, bɔt dɛn kin ɛp am bak fɔ liv fayn layf. Ɛn dɛn kin gladi fɔ ɛp yu fɔ ɛp yu pikin. Nɔ ɛva fil se yu wangren de, ɛn aks fɔ ɛp.

` Shwachman-Diamond syndrome, SDS, jεnεtik abnכmaliti, pankrias, bon mכro, bon abnכmaliti, pikin dεm sik, nyutropenia