Yu dɔn yɛri bɔt Pompe Disease? Lɛ wi tɔk bɔt am ditayli!

Yu dɔn ɛva yɛri bɔt wan sik we gɛt wan strenj nem we dɛn kɔl Pompe Disease? Sɔntɛm dis nem na nyu tin to yu. Dis kin rili shɔt smɔl, we min se nɔto sik we kin afɛkt ɔlman. Bɔt i rili impɔtant fɔ no bɔt am, bikɔs na jɛnɛtik kɔndishɔn, we min se i kin pas to jɛnɛreshɔn. dis de mek wan kayn shuga we dεn kכl `(glycogen)` de kכlכm insay di sεl dεm na wi bכdi. So, tide wi go tɔk jɔs bɔt wetin na dis Pompe sik, aw i kin kam, wetin na di sayn dɛm, ɛn if tritmɛnt de.

Wetin na Pompe Disease?

Fɔ tɔk am simpul wan, Pompe sik na wan jɛnɛtik kɔndishɔn we de insay di grup we gɛt sik dɛn we de kip glycogen. wi bכdi gεt wan εnzym we dεn kכl `(acid alpha-glucosidase)` כ `(GAA)`. dis εnzym de brok dכn di kכmpleks shuga `(glycogen)` na wi bכdi, dat na fכ digεst am, εn i de εp fכ prodyuz enεji. So, pɔsin we gɛt Pompe sik nɔ de prodyuz dis `(GAA)` ɛnzaym fayn fayn wan, ɔ i gɛt smɔl smɔl pan am.

Wetin kin apin da tɛm de? da kayn shuga we dεn kכl `(glycogen)` nכ de brok dכn fayn fayn wan εn i de kכmכt insay sכm sכm kכmכt dεm we dεn kכl `(lysosomes)` insay di sεl dεm na di bכdi. Tink bɔt am lɛk dɔti bɔks, if dɛn nɔ pul di dɔti, i go ful-ɔp. dis `(lysosomes)` na di ples dεm we dεn de risaykul di tin dεm we de insay wi sεl dεm, dat min se dεn mek dεm so dat dεn go yuz dεm bak. so, biכs dis `(GAA)` εnzym nכ de wok fayn, `(glycogen)` de fulכp insay dεn `(laysosom dεm). dis we ya, `(glycogen)` de akכmyule mכst insay wi at mכsul dεm εn skel mכsul dεm. We i gɛda da we de, dɛn ɔgan dɛn de kin pwɛl ɛn smɔl smɔl dɛn kin bigin fɔ wik.

Dɛn kin kɔl dis sik bak:

• `(Pompe in sik)` (Pompe in sik)
• `(Asid maltase we nɔ de)` (Asid maltase we nɔ de)
• `(Glaykojen stכrej sik tayp II (GSD2))` (Glaykojen stכrej sik - tayp II)

Wetin na di men kayn Pompe sik?

Dɛn kin sheb am mɔ to tu kayn Pompe sik, i kin dipen pan di ej we di sik bigin ɛn aw di sik kin tranga.

Pompe sik we kin bigin frɔm pikin dɛn

Dis na di kayn sik wae kin pasmak pan Pompe sik. dis kכndyushכn de apin we di εnzym (acid alpha-glucosidase (GAA)) nכ de kכmplit כ nכmכ de insay rili sכm. Sɔntɛnde, di pikin nɔ kin sho ɛni sayn we dɛn bɔn am. Bɔt di sayn dɛm kin bigin fɔ sho insay di fɔs ia na layf, bɔku tɛm we i ol lɛk 4 mɔnt.

Dɛn pikin ya kin gɛt siriɔs mɔsul wik , dɛn liva kin big, ɛn dɛn at kin big bikɔs dɛn at kin wik (cardiomyopathy). Di sik kin rili go bifo. If dɛn nɔ trit dɛn pikin ya fayn, dɛn kin day bikɔs dɛn at nɔ ebul fɔ blo ɔ dɛn nɔ ebul fɔ blo fayn insay wan ɔ tu ia. Dis na tin we rili sɔri.

Pompe sik we kin bigin let

Dis kayn Pompe sik kin kam pan ɛni ej. I kin apia bifo wan ia ol, bɔt i nɔ kin big (we kin mek i difrɛn frɔm di sik we i smɔl), ɔ i kin apia we i smɔl, we i yɔŋ, ɔ ivin we i big. dis pipul dεm gεt lכw lεvεl fכ di εnzym ``(GAA)``, bכt nכ lכw lεk na bεlε pikin dεm.

Dis kayn kin smɔl ɛn nɔ kin rili bad pas di we aw pikin kin bi, bɔt i kin dipen pan di ej we di sik kin bigin. Pikin dɛm wae gɛt dis sik wae dɛn smɔl kin gɛt mɔr kɔs.

di men simptom na we di mכsul dεm wik (`(myopathy)`). Dis kin mek i nɔ izi fɔ blo. Bɔt, i nɔ kin gɛt bɛtɛ prɔblɛm wit di at. If dɛn nɔ trit am, di prɔblɛm dɛn we kin apin we pɔsin de blo kin mek i day.

Aw kɔmɔn sik na Pompe?

Pompe sik na rili wan sik we nɔ kin bɔku we pɔsin kin gɛt we i kam pan jɛnɛtiks . Fɔ ɛgzampul, na Amɛrika, dis sik kin apin to lɛk wan pan ɛvri 40,000 pipul dɛn. Na Sri Lanka, i nɔ kin izi fɔ fɛn di rayt statystik bɔt dis, bɔt i klia se dis na sik we nɔ kin apin so ɔltɛm.

Wetin na di sayn dɛm wae de sho se pɔrsin gɛt Pompe sik?

Di men sayn fɔ Pompe sik na we di mɔsul dɛn kin wik , mɔ na di hip, leg, sholda, an, ɛn di dayafragm, we na di big mɔsul bitwin di chɛst ɛn bɛlɛ.

Di sayn dɛm fɔ Pompe we i smɔl:

• di mכsul dεm kin sכmtεm sכmtεm, dεn nכ kin fכm (hypotonia). di bכdi kin tan lεk limp, lεk "bebi in limp".
• Di at we de big (`(cardiomegaly)`) .
• Liva we dɔn big (`(hepatomegaly)`) .
• Tɔng we dɔn big (macroglossia) .
• Failure fɔ go bifo (`failure to thrive`). Dis min se di pikin nɔ de gɛt wet fayn ɔ i nɔ de gro lɔng.
• I nɔ kin izi fɔ yu fɔ blo.
• I nɔ izi fɔ it ɛn drink milk.
• Infεkshכn dεm we de apin na di rεspiretכri fכs fכs (e.g. nyumonia).
• I nɔ de yɛri fayn.

Di simptom dɛm fɔ delay fɔ bigin Pompe:

Dɛn sayn ya kin nɔr kin pasmak ɛn dɛn kin jɔs wɔs as tɛm de go. Bɔt dɛn kin mek bak pɔsin wik bad bad wan ɛn mek i nɔ ebul fɔ blo fayn.

• di mכsul dεm na di leg εn di trכnk de wik sכmtεm.
• I nɔ izi fɔ waka, fɔdɔm ɔltɛm.
• Pen na difrɛn pat dɛm na di bɔdi, mɔ na di mɔsul dɛm.
• Fɔ lɔs di ebul fɔ ɛksesaiz, rɔn, ɛn jomp.
• Infεkshכn dεm we de apin na di rεspiretכri bכku tεm.
• I nɔ kin izi fɔ yu fɔ blo (dyspnea) we yu taya smɔl.
• Ed we kin at na mɔnin.
• Fɔ fil taya pasmak insay di de.
• We yu nɔ bin want fɔ lɔs yu wet.
• I nɔ kin izi fɔ swɛla it (dysphagia).
• At ritm irɛgyulariti (`(arithmia)`).
• Smɔl smɔl, di we aw pɔsin kin yɛri kin go dɔŋ.

Wetin na de tin wae kin mek pɔrsin gɛt Pompe sik?

Pompe sik de kכz bay mכtεshכn dεm na di jin `(GAA)`. dis `(GAA)` jin de rispansabl fכ prodyuz di enzym `(acid alpha-glucosidase)` we wi bin dכn mεnshכn. dis εnzym de brok dכn di kכmpleks shuga `(glycogen)`.

nכmal wan, wi bכdi dεn kin kכnvכlt dis `(glycogen)` to `(glucose)`, we dεn de yuz fכ enεji. di εnzym `(Acid alpha-glucosidase)` de wok insay kכmpartimεnt dεm we dεn kכl `(lysosomes)` insay wi sεl dεm. tink bɔt dεn `(laysosom)` dεm as risaykul sεntr dεm na wi sεl dεm. di εnzym dεm de brok dכn difrεn tin dεm εn dayrεkt dεm fכ du nyu wok fכ di bכdi, fכ egzampl, fכ gi εnεji.

so, if yu gεt Pompe sik, mכtεshכn dεm na di `(GAA)` jin de mek di prodakshכn fכ di εnzym `(acid alpha-glucosidase)` dכn dכn כ i nכ de kכmplit wan. if dis εnzym nכ de, yu bכdi nכ kin brok dכn `(glycogen)` fayn fayn wan. afta dat `(glycogen)` de kכmכt insay dεn `(lysosomes)` dεm, we de mek di mכsul dεm dεm we de pwεl bad bad wan. Dis na di men rizin fɔ de sik.

dis sik de inhεrit insay wan כtosom rεsεsiv we. Dis min se yu mama ɛn papa ɔl tu fɔ pas di jin we dɔn chenj to yu. Bɔrku tɛm, na di mama ɛn papa nɔmɔ kin gɛt di sik, we min se dɛn nɔ kin sho di sayn dɛm. Bɔt dɛn gɛt di jin we dɔn chenj.

Wetin na di kɔmplikeshɔn dɛm wae de kam wit Pompe sik?

If dɛn nɔ trit am, Pompe sik we kin bigin we i smɔl, kin kil pɔsin we i smɔl. Bɔrku pipul dɛm wae gɛt Pompe sik kin gɛt prɔblɛm wit dɛn respiratory ɛn hat. Klose to ɔl di sik pipul dɛn kin gɛt wikɛd mɔsul. Sɔm tɛm na dɛn layf, bɔrku pipul kin nid ɔksijɛn sɔpɔt ɛn tin fɔ ɛp fɔ du tin lɛk fɔ waka.

Aw dɛn kin no se pɔsin gɛt Pompe sik?

Yu dɔktɔ go fɔs chɛk yu bɔdi ɛn aks yu bɔt yu famili mɛdikal istri. afta dat, dεn go tek bכdi sεmpl εn tεst fכ wan εnzym we dεn kכl ``kriatin kinaz``. Dis kin ɛp fɔ no if di mɔsul dɛn dɔn pwɛl. wan mכr spεsifi k tεst na fכ mכsu di aktiviti fכ di εnzym ``(GAA)`` insay yu bכdi. yu kin gεt ``Jεnεtik tεst`` כ jεnεtik tεst fכ stכdi di ``(GAA)`` jin na yu bכdi.

Apat frɔm dat, dɛn kin du dɛn tɛst ya:

• di tεst dεm we di pulmonari fכnshכn : dεn ya de mכsu di kapasiti fכ di lכng dεm.
• Electromyography (EMG) : Dis de sho aw yu mɔsul dɛn de wok fayn fayn wan.
• At tεst : Dis kin inklud tεst lεk εlektrokardiogram (EKG) εn εkokadyografi (echo).
• Stɔdi fɔ slip : Dɛn tɛst ya kin rayt sɔm tin dɛn we yu bɔdi kin du we yu de slip.

Aw dɛn kin trit Pompe sik?

Di men tritmɛnt fɔ Pompe sik naƐnzaym Riplesmɛnt Tɛrapi (ERT) . Insay dis, yu dɔktɔ kin gi yu wan pan dɛn mɛrɛsin ya we yu kin put insay yu bɛlɛ:

• `(Alglukosidayz alfa)`
• `(Avalglukosidayz alfa)`

Dɛn drɔgs ya na ɛnzaym dɛn we dɛn dɔn mek wit jɛnɛtiks ɛn we de wok jɔs lɛk di ɛnzaym dɛn we kin apin na wi bɔdi. Dis tritmɛnt ya:

• I de ɛp fɔ ridyus di saiz fɔ di at.
• I de ɛp fɔ mek di at wok fayn fayn wan.
• I kin ɛp fɔ mek di mɔsul dɛn wok fayn, trɛnk, ɛn stif, ɔ i kin mek di sik nɔ go bifo kwik kwik wan.
• i de ridyus di glycogen we de stכr na di bכdi.

Apat frɔm dat, wan tim we gɛt spɛshal pipul dɛn go trit yu wan wan sik dɛn ɛn gi yu di kia we yu nid. Dis tim kin gɛt:

• Di wan dɛn we de mɛn bɔdi, di wan dɛn we de mɛn pipul dɛn we gɛt wok, ɛn di wan dɛn we de mɛn di we aw pɔsin de blo
• Di wan dɛn we de mɛn di at
• Di wan dɛn we de stɔdi bɔt nyurolɔji

Dipen pan aw yu sik tranga, yu kin nid:

• Fizik tɛrapi ɔ ɔkupeshɔn tɛrapi.
• Wan tiub fɔ it (`(fidin tiub)`).
• Wan atifishal rεspiretכri sכpכt (`(mεkanikal vεntileshכn)`).

Naw, sayɛnsman dɛn de du klinik trial fɔ jin tɛrapi fɔ Pompe sik. Di jin tɛrapi min fɔ chenj di jin dɛn we dɔn pwɛl wit di wan dɛn we gɛt wɛlbɔdi. dis de mek yu bכdi prodyuz di εnzym asid alfa-glukosidayz fayn fayn wan. Dis na big op fɔ tumara bambay.

Yu tink se dɛn kin ebul fɔ protɛkt di sik we dɛn kɔl Pompe?

Pompe sik na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, so dɛn nɔ go ebul fɔ avɔyd am . Bɔt if yu gɛt bɛlɛ ɔ yu plan fɔ gɛt bɛlɛ, i go fayn fɔ mek yu tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks . Dis go ɛp yu fɔ lan mɔ bɔt dis ɛn if nid de, yu fɔ du tɛst.

Aw di layfspan tan lɛk wit Pompe sik?

If dɛn nɔ no di sik ɛn trit am kwik, pikin dɛn we gɛt Pompe sik we dɛn smɔl kin day we dɛn yɔŋ bikɔs dɛn nɔ de blo fayn ɔ dɛn at nɔ de wok fayn.

Pipul wae gɛt Pompe sik wae kin bigin let kin liv lɔng bikɔs de sik kin go bifo sloslo. Bɔt dis kin dipen pan di ej we di sik bigin ɛn aw di sik kin tranga. Jɛnɛral wan, di mɔ di ej we di sik bigin, na di mɔ di sik de go bifo sloslo.

Ustɛm yu fɔ go to dɔktɔ?

If yu ɔ yu pikin gɛt sayn dɛn fɔ Pompe sik, yu fɔ go to dɔktɔ wantɛm wantɛm . If yu no di sik kwik kwik wan, dat kin rili ɛp fɔ mek pikin ɛn big pipul dɛn we gɛt dis sik gɛt bɛtɛ layf.

Aw mi ɔ mi pikin kin kia fɔ dɛnsɛf wit dis sik?

If yu ɔ yu pikin gɛt Pompe sik, tink bɔt fɔ tɔk to pɔsin we de stɔdi bɔt pɔsin in maynd. Pɔrsin wae de stɔdi bɔt pɔrsin in maynd kin ɛp yu fɔ ɔndastand de sik fayn fayn wan ɛn ɛp yu fɔ bia wit dis sik fayn fayn wan. Sɔpɔt grup dɛn de bak usay yu kin mit ɔda pipul dɛn we de go tru di sem kayn tin ɛn sheb ɛkspiriɛns.

Bɔku tɛm, di wan dɛn we de kia fɔ dɛn kin taya pasmak ɔ strɛs (di wan dɛn we de kia fɔ dɛn kin taya ɔ dɛn kin bɔn). Dis na nɔmal tin, bɔt i impɔtant fɔ kia fɔ yusɛf ɛn fɔ kia fɔ yu pikin bak.

Wetin a fɔ aks dɔktɔ dɛn bɔt Pompe sik?

If yu ɔ yu pikin gɛt Pompe sik, yu kin aks yu dɔktɔ kwɛstyɔn dɛn lɛk:

• Us kayn Pompe sik mi pikin gɛt?
• Wetin yu go se bɔt mi pikin in layf?
• Us kayn spɛshal pipul dɛn wi go gɛt fɔ si?
• Aw ɔltɛm a nid fɔ go to dɛn spɛshal pipul ya?
• Wetin a go du fɔ mek mi pikin fil fayn?
• I fayn fɔ mek dɛn du jenɛtik tɛst fɔ ɔda pipul dɛn bak na di famili?
• Aw a go lan fɔ liv fayn wit Pompe sik?

If yu ɔ yu pikin gɛt Pompe sik, aks yu dɔktɔ bɔt fɔ jɔyn sɔpɔt grup. We yu tɛl ɔda pipul dɛn bɔt yu ɛkspiriɛns ɛn lan frɔm ɔda pipul dɛn, dat kin rili ɛp ɛn kɔrej yu. Mɛmba se nɔto yu wangren de. Pan ɔl we no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl Pompe, sayɛnsman dɛn de kɔntinyu fɔ du risach bɔt aw fɔ mɛn am. Dɔktɔ dɛn de stɔdi bɔt sɔm fayn fayn mɛrɛsin dɛm wae kin ɛp fɔ kɔntrol di sik wae de kam pan pɔrsin ɛn fɔ mek yu pikin in layf bɛtɛ.

Mɛsej we dɛn kin kɛr go na os

Fɔ dɔn, Pompe sik na sik we nɔ kin bɔku, we pɔsin kin gɛt frɔm in jɛnɛtiks. I kin mek di mɔsul dɛn wik mɔ. tu kayn dεm de, di kayn we we pikin kin bigin fכ bכn pikin εn di wan we kin bigin fכ let. Fɔ no di sik kwik kwik wan ɛn fɔ trit am, lɛk Enzyme Replacement Therapy (ERT), rili impɔtant. Pipul wae de liv wit dis sik ɛn dɛn famili kin bɛnifit bɔrku frɔm saykilɔjik sɔpɔt ɛn sɔpɔt grup. As dɛn de du risach bɔt nyu tritmɛnt dɛn, op de fɔ tumara bambay. If yu gɛt ɛni kwɛstyɔn bɔt dis, nɔ shek fɔ tɔk to dɔktɔ.

` Pompe sik, glycogen stכrej sik, asid alfa-glucosidase, GAA εnzym, mכsul wik, εnzym riplesmεnt tεrapi, jεnεtik dizכrd, infantil-onset Pompe, let-onset Pompe, laysosomal stכrej sik