Yu smɔl pikin gɛt dɛn sik ya? Lɛ wi tɔk bɔt di sik we dɛn kɔl Wiskott-Aldrich Syndrome.

Yu smɔl pikin kin sik ɔltɛm? Sɔntɛnde i kin gɛt prɔblɛm wit in skin lɛk ɛkzema, i kin blɔd bɔku ivin we i gɛt smɔl brus, ɔ i kin brus ɔlsay ɔltɛm? Pan ɔl we i kin tan lɛk se dɛn tin ya na nɔmal tin, sɔntɛnde, wan tin kin de we nɔ kin apin so ɔltɛm we wi nɔ yɛri bɔku bɔt. Wan pan dɛn kayn sik ya na Wiskott-Aldrich Syndrome. Lɛ wi tɔk bɔt dis smɔl mɔ tide.

Wetin na dis Wiskott-Aldrich Syndrome?

Fɔ tɔk am simpul wan, dis na tin we nɔ kin apin we pɔsin kin gɛt we i kam pan jɛnɛtiks . I kin mɔna yu pikin in imyun sistɛm ɛn di wok we sɔm sɛl dɛn na di blɔd de du. Dis kin mek yu gɛt bɔku sayn dɛn wan tɛm. Dɛn tin ya na:

• Eczema: Na wan sik we de mek yu skin dray ɛn it.
• Immune deficiency: Di wayt blɔd sɛl dɛm we de fɛt sik na di bɔdi nɔ de wok fayn.
• Blɔd ɛn brus: Ivin we yu tɔch am smɔl, i kin mek yu blɔd, ɛn brus kin apin na say dɛn bikɔs i nɔ kin izi fɔ mek blɔd klɔt.

Sɔntɛnde dis sik kin mek yu gɛt prɔblɛm dɛn we kin mek yu layf de pan denja. I kin mek yu layf shɔt bak. Bɔt if dɛn de trit dɛn naw, dɛn kin ridyus dɛn prɔblɛm ya bad bad wan .

Aw dis sik kin kɔmɔn?

Dis na rili tin we nɔ kin apin so ɔltɛm . Statistikin, dɛn se na tri pan ɛvri milyɔn bɔy pikin dɛn nɔmɔ gɛt dis sik we dɛn kɔl Wiskott-Aldrich Syndrome. Ivin na kɔntri lɛk Amɛrika, nɔr pas 5,000 pipul dɛm wae gɛt dis sik. I kin afɛkt bɔy pikin dɛn mɔ , ɛn i kin rili, rili rare fɔ mek gyal pikin dɛn gɛt am.

Wetin na wan sik wae gɛt fɔ du wit WAS?

Yu dɔktɔ kin kɔl bak Wiskott-Aldrich Syndrome as wan sik wae gɛt fɔ du wit WAS. dis de tכk bכt di kכndishכn dεm we de afekt di imyun sistεm bikoz fכ wan mכtεshכn na di WAS jin. fכ egzampl, X-linked thrombocytopenia na bak wan dizכrd we de rilet to WAS.

כltu, wan kכndyushכn we dεn kכl ``kכnεjital nyutropenia'' de kכz difrεn jεnεtik mכtεshכn, we nכ riliyt to di ``WAS'' jin. Dɔktɔ dɛn kin no dis sik afta di pikin gɛt bad bad baktriyal infɛkshɔn.

Wetin na di sayn dɛm fɔ Wiskott-Aldrich Syndrome?

Wi dɔn tɔk bɔt tri men sayn dɛm de fɔ dis sik. Lɛ wi luk dɛn smɔl smɔl .

• Ekzema: Dis kin mek di skin dray bad bad wan ɛn it., sɔntɛnde i kin rɛd ɛn flay. I tan lɛk ɛkzema we sɔm smɔl pikin dɛn kin gɛt, bɔt dis kin tranga smɔl.

• Immune deficiency: Dis sik kin apin we di wayt blɔd sɛl dɛm we de ɛp fɔ mek wi bɔdi gɛt wɛlbɔdi nɔ de wok fayn. Dis kin mek di bɔdi nɔ ebul fɔ fɛt sik . Sɔntɛnde, di imyun sistɛm kin ivin bigin fɔ atak in yon bɔdi. Dis kin mek yu gɛt infekshɔn bɔku tɛm, ɛn tin dɛn lɛk rεumatoid at, vaskulεt (inflammation of the blood vessels), anemia (low blɔd kɔnt), lukimiya (wan kayn blɔd kansa), ɔ lymphoma (wan kayn kansa na di limf no dɛm).

• Prɔblɛm fɔ blɔd (Microthrombocytopenia): Dis na we di nɔmba fɔ di pletlɛt dɛn, we de ɛp di blɔd fɔ klɔt, de go dɔŋ ɔ i de rili smɔl . Infakt, na dɛn sɛl ya de ɛp fɔ stɔp blɔd. So we dɛn tin ya smɔl, ivin we dɛn kɔt am smɔl, i kin mek yu blɔd we nɔ de stɔp. Dis kin mek yu gɛt brus , blɔd kɔmɔt na yu nos, sɔntɛnde yu kin gɛt dayarɛa we gɛt blɔd, blɔd kin kɔmɔt ɔnda yu skin (purpura), ɛn smɔl smɔl rɛd dɔt dɛn (petechiae) na yu skin.

Nɔr frayd dis sik jɔs bikɔs yu gɛt wan ɔr tu pan dɛn sayn ya. Bɔt if dɛn tin ya kɔntinyu fɔ de, i go fayn fɔ mek yu go to dɔktɔ.

Bebi dεm we gεt di mכst siriכs fכm fכ Wiskott-Aldrich syndrome (we dεn de lכs fכ wok) kin sho bak sכmtεm dεm lεk:

• Ekzima we de mek pɔsin gɛt sik
• Immune deficiency we nɔ de wok fayn
• Sivɛri thrush
• Nyumonia

sכmtεm, insay kes dεm we dεn bכn wit nyutropenia we kכz fכ wan gain-of-function WAS jin, siriכs baktriyal infεkshכn כ myelodysplastic syndrome (wan bon mכro sik) kin apin.

Wetin na di rizin fɔ dis?

Di men tin we kin mek pɔsin gɛt di sik we dɛn kɔl Wiskott-Aldrich Syndrome na we di jɛnɛtik chenj ɔ muteshɔn we de na di WAS jin . dis WAS jin de na di sכt an fכ wi X kromozom. dis jin de mek di Wiskott-Aldrich syndrome protin. Dis protin de insay ɔl wi blɔd sɛl dɛn.

dis Wiskott-Aldrich syndrome protin de εp wi sεl dεm fכ stik to כda sεl dεm εn tisu dεm (adhesion). Dis adheshon rili impɔtant bikɔs i de ɛp wi imyun sistɛm fɔ win ɛnimi dɛn lɛk baktri ɛn vayrɔs dɛn we de kam insay di bɔdi.

so, if yu gεt jεnεtik mכtεshכn na yu `WAS` jin, yu bכdi sεl dεm nכ go ebul fכ stik to כda sεl dεm εn tisu dεm fayn fayn wan. Dis go mek di imyun sistɛm nɔ ebul fɔ du in wok fayn fayn wan. Na dat kin mek yu gɛt di sayn dɛm fɔ Wiskott-Aldrich Syndrome.

insay nyutropenia we dεn bכn wit, wan jεnεtik mכtεshכn de stכp di muvmεnt fכ tu kayn sεl dεm, nyutrofil dεm εn monosayt dεm, we de mek di imyun sistεm nכ de rilis dεn sεl dεm ya fכ fכt infεkshכn.

Dis na sɔntin we kɔmɔt frɔm jɛnɛreshɔn?

Yɛs, dis na kɔndishɔn we pɔsin kin gɛt frɔm am. I de inhɛrit insay wan ``X-linked rɛsɛsiv`` patɛn. Dis min se di pikin fɔ gɛt di chenj na in jɛnɛtik frɔm in mama ɛn papa ɔl tu.

Wi kin gɛt wi sɛks kromozom frɔm wi mama ɛn papa. Man dεm gεt wan `X` kromozom εn wan `Y` kromozom. uman dεm gεt tu `X` kromozom dεm. dis sik de afekt bכy pikin dεm mכr, biכs dis jεnεtik mכtεshכn de afekt di fכnshכn fכ dεn כnli `X` kromozom.

pan tap di sik gεt famili patεn, mכr dan 30% pan כl di sik pipul dεm de divεlכp am ``de novo'' , we min se na nyu jεnεtik mכtεshכn we de apin we dεn bכn.

Aw yu no dis?

Bɔku tɛm, dɔktɔ kin no se i gɛt dis sik we dɛn kɔl Wiskott-Aldrich Syndrome we i smɔl ɔ we i smɔl . Dɛn kin chɛk di pikin ɛn du di tɛst dɛn we dɛn nid. Di fɔs sayn dɛm fɔ dis sik kin bi blɔd na di stɔl, blɔd we nɔ kɔmɔn, ɔ brus. Dɔktɔ kin du dɛn tɛst ya fɔ no if pɔsin gɛt di sik:

• Kɔmplit blɔd kɔnt (CBC) .
• Jɛnɛtik blɔd tɛst
• Pɛriferal blɔd smyuɛl

If dεn nכ no dis we dεn bεlε, di sayn dεm kin sho mכr we dεn sכm pikin.

If yu pikin sho sayn dɛm fɔ se in imyun sistɛm wik, lɛk fɔ gɛt infɛkshɔn ɔltɛm, dɛn kin nid fɔ du ɔda tɛst dɛn we i smɔl. Dis na bikɔs di pikin in bɔdi nɔ kin ebul fɔ fɛt baktri ɛn vayrɔs dɛn fayn fayn wan, ɛn i nɔ kin ebul fɔ ansa sɔm vaysin dɛn fayn fayn wan.

Dɔktɔ kin du blɔd tɛst fɔ chɛk if yu pikin in bɔdi de mek antibodi afta dɛn dɔn gi am di vaysin. dis antibodi dεm na dεn de mek di imyun rεspכns fכ protεkt frכm siriכs sik dεm. Apat frɔm dat, dɛn go du ɔda blɔd tɛst fɔ chɛk yu pikin in wayt blɔd sɛl dɛn, mɔ di T-sɛl dɛn ɛn di imyunoglobulin dɛn (we kin ɛp bak fɔ mek antibodi dɛn).

Wetin na di tritmɛnt dɛm fɔ dis?

Dɛn kin trit Wiskott-Aldrich Syndrome dɛn kayn we ya:

• Trit infɛkshɔn dɛnAntibayɔtik ɔ antivayrɔs mɛrɛsin.
• dεn kin gi antibodi (immunoglobulin) infushכn fכ mek di antibodi dεm we dεn dכn dכn kam bak.
• Blɔd-pletlɛt transfyushɔn fɔ blɔd kɔmplikeshɔn dɛn.
• Dɛn kin trit ɛkzema wit mɛrɛsin dɛn we dɛn kin put pan pɔsin in bɔdi ɛn tin dɛn we dɛn kin yuz fɔ mek wata we dɛn kin bay na kɔt (OTC) .

If yu pikin gɛt sik ɔ infekshɔn, i kin rili bad ɛn ivin put in layf pan denja . Fɔ protɛkt yu pikin in layf, yu kin tray dɛn tritmɛnt ya bak:

• stεm sεl transplant : Dis kin bi di bεst sכlushכn we de naw.
• Jεn tεrapi (dis stil de na di risach stej).

Yu pikin in dɔktɔ go tɔk to yu bɔt dɛn tritmɛnt opshɔn ya ɛn plan tritmɛnt fɔ mek yu pikin gɛt di bɛst tin fɔ du ɛn fɔ mek dɛn liv bɛtɛ layf.

If mi pikin gɛt dis sik, wetin a fɔ ɛkspɛkt?

If yu pikin gɛt Wiskott-Aldrich Syndrome, yu dɔktɔ go mek wan tritmɛnt plan fɔ ɛp fɔ mek i nɔ gɛt prɔblɛm dɛn we go mek i day bikɔs dɛn imyun sistɛm nɔ de wok fayn. Afta dɛn dɔn no se yu gɛt di sik, dɛn kin sɛn yu fɔ go advays yu bɔt yu jɛnɛtiks . Dis kin ɛp yu ɛn yu famili fɔ no mɔr bɔt de sik ɛn de tritmɛnt wae de fɔ yu.

Ivin kɔmɔn sik dɛn we pikin kin gɛt lɛk chikinpoks kin mek yu pikin gɛt siriɔs wɛlbɔdi prɔblɛm. Bikɔs in imyun sistɛm nɔ strɔng lɛk ɔda pikin dɛn we in ej, i go nid fɔ go to dɔktɔ wantɛm wantɛm. If yu trit sik ɛn infɛkshɔn kwik kwik wan, dat kin ɛp yu fɔ gɛt bɛtɛ rizɔlt.

Yu dɔktɔ kin tɛl yu fɔ nɔ gi yu pikin layf vayrɔs vaysin (lɛk di flu shot) bikɔs layf strayn fɔ di vayrɔs kin mek yu pikin sik. Ivin if yu pikin gɛt sɔm vaysin dɛn, dɛn nɔ kin wok fayn. If yu pikin sik wit wan vayrɔs, tritmɛnt kwik wit antivayrɔs mɛrɛsin kin wok fayn. Bɔt ivin sik dɛn we pipul dɛn kin gɛt kin mek dɛn gɛt prɔblɛm dɛn.

Yu pikin kin nid fɔ de chɛk yu pikin ɔltɛm fɔ gɛt kansa ɔlsay na in layf bikɔs i kin gɛt sɔm kayn kansa, mɔ di lukimiya ɔ limfoma .

Yu tink se kɔmplit mɛrɛsin de fɔ dis?

Yɛs, we pɔsin transplant stem sɛl (dɛn kin kɔl am bak bon mɛro transplant) kin mɛn di sik we dɛn kɔl Wiskott-Aldrich Syndrome.Dɛn kayn transplant ya kin pul di stem sɛl dɛn we de mek di bɔdi we de mek blɔd ɛn put stem sɛl dɛn we gɛt wɛlbɔdi. Bikɔs di sik we dɛn kɔl Wiskott-Aldrich Syndrome kin mek di blɔd sɛl dɛn we nɔ de wok fayn, we dɛn transplant stem sɛl dɛn, dat kin mek dɛn gɛt sɛl dɛn we gɛt wɛlbɔdi ɛn we de wok fayn.

Yu tink se di sik we dɛn kɔl Wiskott-Aldrich Syndrome kin kil pɔsin?

Wiskott-Aldrich Syndrome kin kil pɔsin . Dɛn bin dɔn ripɔt bifo tɛm se pikin dɛn we nɔ gɛt stem sɛl transplant kin liv lɛk 15 ia so. Di sayn dɛm wae kin kam wae pɔrsin gɛt infekshɔn, blɔd we de kɔmɔt na di pikin in bren, bad bad infɛkshɔn ɔ kansa kin mek in layf de pan denja, ɛn day kin apin kwik kwik wan.

Bɔt we di mɛrɛsin sayɛns dɔn go bifo, di tritmɛnt we dɛn de yuz naw dɔn mek i pɔsibul fɔ mek di pikin liv lɔng.

Yu tink se dɛn go ebul fɔ stɔp dis?

Dis na tin we pɔsin kin gɛt we i kam pan jɛnɛtiks ɛn dɛn nɔ go ebul fɔ avɔyd am . If yu de plan fɔ bɔn pikin ɛn yu want fɔ no yu risk fɔ bɔn pikin we gɛt wan sik, tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks .

Us tɛm a fɔ go to mi pikin in dɔktɔ?

If yu pikin sik ɛn dɛn dɔn no se i gɛt wan sik we dɛn kɔl Wiskott-Aldrich Syndrome, go to dɛn dɔktɔ wantɛm wantɛm . Bikɔs dɛn imyun sistɛm nɔ de wok fayn, dɛn kin gɛt infɛkshɔn bɔku tɛm. Yu dɔktɔ kin trit di sik ɔr infekshɔn, ɔr kin mek yu nɔr gɛt prɔblɛm dɛn we kin mek yu layf de pan denja.

Si yu dɔktɔ if yu pikin gɛt ɛni wan pan dɛn tin ya:

• Blɔd na di stɔl (Blɔdi dayarɛa) .
• Blɔd we de kɔmɔt na yu nos ɔltɛm
• Big big say dɛn we gɛt brus
• Chenj dɛn na dɛn skin
• Infεkshכn dεm we de kam bak (e.g. siriכs chikinpoks כ thrush, baktriyal infεkshכn) .

Us kwɛstyɔn dɛn a fɔ aks di dɔktɔ?

Yu kin aks di dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• Wetin na di layf we mi pikin de liv?
• Us prɔdak a kin yuz fɔ trit mi pikin in ɛkzema?
• Ɛni bad tin de we kin apin to di tritmɛnt dɛn we yu kin advays?
• Mi pikin fit fɔ mek dɛn transplant mi stem sɛl?

Wetin na di difrɛns bitwin Wiskott-Aldrich Syndrome ɛn Ataxia-Telangiectasia?

Wiskott-Aldrich Syndrome εn Ataxia-Telangiectasia na dεn tu jεnεtik kכndyushכn dεm we de afekt di fכnshכn fכ di imyun sistεm.. כltu, ataxia-telangiectasia de kכz bay wan mכtεshכn na di ATM jin. I kin afɛkt di we aw yu de muv ɛn aw yu de wok togɛda. I kin mek bak di blɔd vesel dɛn kin tan lɛk zig-zag na yu skin.

Di tin dɛn we impɔtant pas ɔl we yu nid fɔ mɛmba

Fɔ no se yu pikin gɛt wan sik we nɔ kin apin so ɔltɛm we go afɛkt am fɔ di res ɔf in layf kin rili tranga. I kin mek pɔsin shɔk. Bɔt nɔ wɔri. Yu pikin in dɔktɔ go tɛl yu mɔ bɔt de sik ɛn aw yu go ɛp yu pikin na os. Yu pikin in imyun sistɛm nɔ kin wok fayn, so i kin sik bɔku tɛm.

I impɔtant fɔ kia fɔ yusɛf we yu de kia fɔ yu pikin. Bɔku mama ɛn papa ɛn famili kin gɛt bɔku kɔrej ɛn sɔpɔt we dɛn de tɔk to pɔsin we de gi advays bɔt dɛn maynd .

Wit di advans pan di tritmɛnt dɛm wae de naw, pikin dɛm wae gɛt dis sik kin ebul fɔ liv ful, gladi layf naw. So una kɔntinyu fɔ strɔng.

` Wiskott-Aldrich sεndrכm, jεnεtik sik dεm, imyun sistεm, εkzema, blɔd, stεm sεl transplant, pikin hεlth