Wetin yu nid fɔ no bɔt Pompe Disease tritmɛnt

Na nɔmal tin fɔ mek yu fred ɛn shɔk we dɔktɔ tɛl yu se sɔmbɔdi na yu famili, mɔ di yɔŋ pikin, gɛt Pompe sik. Na sik wae nɔr kin bɔrku, wae kin kam wit jɛnɛtiks, so na nɔrmal tin fɔ wɔri. Bɔt lɛ a tɛl yu, nɔ wɔri. Pan ɔl we naw, no mɛrɛsin nɔ de fɔ dis sik, bɔku fayn tritmɛnt dɛn de we go ɛp di wan dɛn we sik fɔ liv lɔng ɛn nɔ gɛt bɔku prɔblɛm dɛn.

Di men tritmɛnt fɔ Pompe sik na ERT (Enzyme Replacement Therapy).

Fɔ tɔk am simpul wan, Pompe sik kin kam bikɔs wi nɔ gɛt wan ɛnzaym we impɔtant fɔ di mɔsul sɛl dɛn na wi bɔdi. we dis εnzym nכ de, wan kayn shuga we dεn kכl glycogen de kכmכt insay di sεl dεm, we de pwεl di mכsul dεm. Tink bɔt am lɛk se smɔl wokman dɛn de wok na wi bɔdi, ɛn wi kin kɔl dɛn ɛnzaym. Na Pompe sik, dis wokman nɔ de wok fayn.

So, Enzyme Replacement Therapy (ERT) na di say we wi de gi di enzyme we nɔ de, ɔ wokman, frɔm ɔdasay na di bɔdi. fכ dis, dεn de gi wan dכg we gεt wan sεntetik εnzym we dεn kכl `alglucosidase alfa` to di bכdi tru wan vein (IV infushכn). Dis tritmɛnt na di wangren tritmɛnt we dɛn dɔn gri fɔ naw fɔ Pompe sik.

If dɛn nɔ gɛt ERT tritmɛnt, di pikin dɛn we gɛt Pompe sik kin tik dɛn at mɔsul smɔl smɔl, dɛn kin wik ɔda mɔsul dɛn na dɛn bɔdi, ɛn dɛn kin day insay di fɔs ia we dɛn dɔn liv. Dɛn kin lɔs di mɔsul dɛn bak we dɛn nid fɔ blo. Afta ERT tritmɛnt bigin, dis sityueshɔn chenj kpatakpata. Di pikin dɛm we bin fɔs gɛt ERT tritmɛnt dɔn pas 20 ia naw.

Wetin mek i rili impɔtant fɔ bigin tritmɛnt kwik?

Dis na di tin we impɔtant pas ɔl. ERT tritmɛnt kin stɔp di sik fɔ wɔs, bɔt i nɔ kin ebul fɔ rivɛns di damej we dɛn dɔn ɔlrɛdi du to di mɔsul dɛm. Dis min se if di tritmɛnt delay, yu kin lɔs di ebul fɔ blo ɔ waka.

Dɔktɔ dɛn kin tray fɔ bigin fɔ tek ERT tritmɛnt insay di fɔs de dɛn we dɛn de liv , mɔ fɔ di pikin dɛn, afta dɛn dɔn no se dɛn gɛt di sik. Ivin if yu delay smɔl, dat kin mek di pikin nɔ ebul fɔ waka sote go.

Fɔ pipul dɛm wae gɛt Pompe sik wae kin bigin let, di dɔktɔ go de chɛk ɛn wach di sik ɔltɛm fɔ no di bɛst tɛm fɔ bigin ERT.

Dis nɔto solo joyn - sɔpɔt frɔm wan tim we gɛt masta sabi pipul dɛn

Pan ɔl we ERT tritmɛnt kin sev pɔsin in layf, i nɔ go du fɔ am. Fɔ gi di bɛst kwaliti layf to pɔsin we gɛt Pompe sik, dɛn nid wan tim we gɛt spɛshal pipul dɛn we gɛt bɔku difrɛn difrɛn tin dɛn. Bɔku tɛm, na klinik jenɛtiks na di men pɔsin we de in chaj fɔ manej di tritmɛnt.

Si di tebul dɔŋ ya fɔ di kayn spɛshal pipul dɛm we dɛn go nid fɔ dis ɛn di kayn sɔpɔt we dɛn go gi.

Ɔda tritmɛnt dɛn apat frɔm ERT

Drug dɛm we de afɛkt di imyun sistɛm

sכm pikin dεm bכdi de no dis εnzym tεrapi we dεn de gi na do (ERT) as ‘fכrin’ εn dεn bigin fכ mek antibodi dεm agens am. Dɛn kɔl dis `CRIM-negative` kɔndishɔn. If dis apin, di ERT tritmɛnt nɔ go wok fayn.

Fɔ mek dis nɔ apin, dɔktɔ dɛn kin bigin fɔ tek wan tritmɛnt we dɛn kɔl immune tolerance induction (ITI) . Insay dis, wit ERT tritmɛnt, dɛn kin gi sɔm mɛrɛsin dɛn we de kɔntrol di imyun sistɛm.

• Rituximab we dɛn kɔl Rituximab
• Mɛtɔtreksɛt we dɛn kɔl
• Imyunoglobulin we dɛn kin put insay di bɛlɛ (IVIG) .

wetin dεn dכg ya de du na fכ "trik" di imyun sistεm fכ tink se ERT na sכmtin we de fכ di bכdi. Den di bodi no go fait wit ERT.

Fizik tɛrapi ɛn ɔkupeshɔn tɛrapi

Bikɔs we di mɔsul dɛn wik na wan men tin we kin mek pɔsin gɛt Pompe sik, i impɔtant fɔ mek pɔsin gɛt fyzikal tritmɛnt . I kin ɛp fɔ mek di mɔsul dɛn strɔng ɛn mek di bɔdi kɔntinyu fɔ wok. Ɔkupeshɔn tɛrapi kin ɛp bak fɔ divɛlɔp di skil dɛm we yu nid fɔ du ɛvride wok fɔ yusɛf.

Tɔk ɛn nyutrishɔn tɛrapi

Bikɔs di mɔsul dɛn we pɔsin nid fɔ it ɛn swɛla it kin wik, pɔsin we de mɛn pipul dɛn we de tɔk kin ɛp fɔ du ɛksɛsayz fɔ swɛla. Dɔn bak, sɔntɛnde dɛn kin nid fɔ put tiub fɔ gi di pikin di tin dɛn we i nid. Wan pɔsin we sabi bɔt it kin gi di advays we nid fɔ du dis.

Yu wok bak rili impɔtant.

We yu de liv wit Pompe sik, yu kɔntribyushɔn as pasɛnt ɔ mama ɔ papa rili impɔtant.

So, yu fɔ wok wit yu dɔktɔ fɔ ɔndastand wetin yu nid ɛn tek di lid fɔ gɛt di bɛst tritmɛnt. Nɔr ɛva fred fɔ aks yu dɔktɔ ɛni kwɛstyɔn wae yu gɛt bɔt dis sik ɔr tritmɛnt.