Yu go dɔn notis se i tan lɛk se yu smɔl pikin taya smɔl pas ɔda pikin dɛn, i nɔ kin izi fɔ ol in nɛk stret, ɔ i de gɛt wet smɔl smɔl. Ɔ, we yu dɔn big, yu kin fil taya ɛn diziz we yu de klaym stɛp ɔ yu de waka fɔ shɔt tɛm? De rizin bihain dis kin bi wan rare kondishon wae yu neva hie bout. Na dat wi de tɔk bɔt tide.
Fɔ tɔk am simpul wan, wetin na Pompe Disease?
Tink bɔt wi bɔdi lɛk big faktri. dis faktri nid difrεn wokman dεm (protein/ enzymes ) fכ wok. Pompe sik kin apin we wan pan di wokman dɛm (wan patikyula prɔtin) we de brok glycogen , we na wan kayn shuga na wi bɔdi, ɛn mek ɛnaji nɔ de ɔ i nɔ de wok fayn.
Naw we dis wokman nɔ de igen, instead fɔ chenj am to ɛnaji, da kayn shuga de we dɛn kɔl glycogen kin bigin fɔ gɛda insay wi bɔdi in sɛl dɛn, mɔ na say dɛn lɛk mɔsul dɛn, at , ɛn liva . I tan lɛk se raw matirial dɛn de bɔku na faktri. dis glycogen we de kכmכt de pwεl dεn כgan dεm de εn i de mek dεn wok wik.
dis sik dεn kכl am bak `GAA dεfisiεns` כ `tayp II glycogen storage disease ( GSD )`.
Wetin kin mek pɔsin gɛt dis sik?
Pompe sik na sik we pɔsin kin gɛt we i kam pan jɛnɛtiks . Dis min se wi gɛt am frɔm wi mama ɛn papa. Bɔt fɔ mek yu gɛt di sik, yu fɔ gɛt di jin we nɔ fayn fɔ di sik frɔm yu mama ɛn papa .
If pɔsin gɛt jɔs wan jin we nɔ fayn, i nɔ go sho sayn dɛn fɔ di sik. Bɔt dɛn go bi pɔsin we de kɛr di sik. Dis min se dɛn kin pas di jin we nɔ fayn to dɛn pikin dɛn.
Wetin na di sayn dɛm fɔ dis sik?
De sayn dɛm fɔ dis sik, di ej wae di sik bigin, ɛn aw de sik kin tranga kin difrɛn frɔm pɔrsin to ɔda pɔrsin. Wi kin sheb am to tu men kategori.
| Di tɛm we di sik bigin | Di sayn dɛm we dɛn kin si bɔku tɛm |
|---|---|
| Tayp we infantil-ɔnset (Frɔm sɔm mɔnt to wan ia) |
|
| Tayp we kin bigin let (Ɛni ej, frɔm we i smɔl te i ol) |
|
Aw fɔ no di sik kɔrɛkt wan?
Bikɔs bɔku tɛm dɛn sik ya kin tan lɛk ɔda sik dɛn, fɔ no if pɔsin gɛt di sik kin at smɔl. Yu dɔktɔ kin aks yu kwɛstyɔn dɛn lɛk dis fɔ ɛp yu fɔ ɔndastand di tin we de apin:
- Yu kin fil wik, yu kin fɔdɔm bɔku tɛm, ɔ i nɔ kin izi fɔ yu fɔ waka, rɔn, ɔ fɔ klaym stej?
- I nɔ kin izi fɔ yu fɔ blo, mɔ na nɛt ɔ we yu de ledɔm?
- Yu kin gɛt ed we de at we yu wek na mɔnin?
- Yu kin fil taya pasmak ɔl di de?
- Ɛnibɔdi na yu famili dɔn gɛt dɛn sik ya?
Apat frɔm dɛn kwɛstyɔn ya, dɛn kin du sɔm tɛst dɛn bak fɔ no ɔda sik dɛn we pɔsin kin gɛt. If dɛn tink se pɔsin gɛt Pompe sik, dɛn kin du dɛn tɛst ya fɔ kɔnfirm di sik we dɛn dɔn no:
- bכdi tεst: Dis de chεk aw di protin (εnzym) we nכ gεt de wok fayn fayn wan.
- Muscle Biopsy: Dɛn kin tek wan smɔl pat pan di mɔsul ɛn chɛk am ɔnda maykroskɔp fɔ si ɔmɔs glycogen de insay.
- Jɛnɛtik Tɛst:Dɛn de luk fɔ di jenɛtik dɛfekt we de kɔz di sik dairekt wan.
De tin wae impɔtant pas ɔl na wae e kin tek tɛm fɔ no dis sik. i kin tek sכm sכm 3 mכnt fכ pikin, εn lכng lεk 7-9 ia fכ big pɔsin. So i impɔtant fɔ peshɛnt.
Wetin na di tritmɛnt dɛn?
Pan ɔl we naw, no mɛrɛsin nɔ de fɔ dis sik, tritmɛnt dɛn de we rili fayn we go ebul fɔ kɔntrol di sayn dɛn ɛn mek i liv lɔng. I rili impɔtant fɔ bigin tritmɛnt kwik kwik wan , mɔ fɔ bebi dɛn.
Di men tritmɛnt na Enzyme Replacement Therapy (ERT) . Fɔ tɔk am simpul wan, dis min fɔ gi di bɔdi wan ɛnzaym (protein) we nɔ de ɔ we nɔ de na di bɔdi tru injɛkshɔn. we dεn gεt dis injεkshכn, di bכdi kin ebul fכ brok di shuga glycogen. Sɔm pan di mɛrɛsin dɛn we dɛn kin yuz fɔ dis na:
- `Myozyme` (bɔku tɛm fɔ pikin dɛn) .
- `Lumizaym`
- `Nexviazyme` (fɔ di kayn we kin bigin let) .
Apat frɔm dat, wan nyu tritmɛnt de we dɛn dɔn gri fɔ fɔ big pipul dɛn we nɔ de ansa fayn to ERT tritmɛnt. i de yuz wan kכmbaynshכn fכ tu dכg dεm we dεn tek as injεkshכn (`Pombiliti`) εn kapsul (`Opfolda`).
Tin dɛm wae yu fɔ tink bɔt wae yu de liv wit dis sik
Fɔ liv wit Pompe sik kin tranga, so e fayn fɔ gɛt sɔpɔt fɔ yusɛf ɛn yu famili. Yu kin jɔyn sɔpɔt grup dɛm bak usay ɔda pipul dɛm wae gɛt dis sik kin sheb ɛkspiriɛns ɛn gɛt prɛktikal advays.
Fɔ ɛgzampul, if i nɔ izi fɔ swɛla it, dɛn kin ad tin dɛn we de mek di it tik. Sɔm pipul dɛn kin nid fɔ gi dɛn tin fɔ it tru wan tyub fɔ gi dɛn tin fɔ it fɔ mek dɛn gɛt di it we dɛn nid.
Bikɔs dis sik kin afɛkt bɔku pat dɛn na di bɔdi, yu nid fɔ gɛt sɔpɔt frɔm wan tim we gɛt spɛshal dɔktɔ dɛn.
- Wan dɔktɔ we de mɛn di at
- Nyurolɔjis
- Respiratory Therapist we de wok fɔ di wan dɛn we de blo
- Wan pɔsin we sabi bɔt it
Na wit ɔlman in sɔpɔt wi kin ebul fɔ manej de sik ɛn de wɛl.
Mɛsej we dɛn kin kɛr go na os
- Pompe sik na wan sik we dɛn kin gɛt frɔm in mama ɛn papa.
- Di men sayn dɛm na we yu mɔsul dɛn wik ɛn i nɔ kin izi fɔ blo.
- Dis sik kin sho tu kayn we: we i smɔl ɛn we i dɔn big.
- If yu no di sik kwik kwik wan ɛn bigin fɔ tek ɛnzaym riplesmɛnt tɛrapi (ERT) i kin mek yu nɔ gɛt bɔku prɔblɛm wit di sik.
- If yu ɔ yu pikin gɛt ɛni dawt bɔt dɛn sik ya, go to dɔktɔ we nɔ de te ɛn aks fɔ advays.
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