No big pen nɔ de fɔ mama ɔ papa pas fɔ wach we dɛn pikin de pwɛl smɔl smɔl bifo dɛn yay. Pikin we bin de rɔn rawnd ɛn ple wantɛm wantɛm bigin fɔ shek wit wan sik we tan lɛk sik, ɔ si in tink ɛn lanin de go dɔŋ smɔl smɔl, i nɔ kin izi fɔ put insay wɔd di fred ɛn shɔk we yu kin fil. Dat na di sik we wi go tɔk bɔt tide we wi nɔ go ebul fɔ imajin ɛn we nɔ kin apin so ɔltɛm. Dis sik na Alpers Disease, ɔr ``(Alpers Disease)``.
Fɔ tɔk am simpul wan, wetin na Alpers Disease?
Alpers sik na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt di maytochondria, we na di smɔl smɔl pawa plant dɛn we de gi pawa to wi sɛl dɛn. Tink bɔt am lɛk se bɔku smɔl smɔl batri dɛn de insay ɛvri sɛl na wi bɔdi, ɛn na dɛn batri dɛn de gi dɛn sɛl dɛn di ɛnaji we dɛn nid fɔ wok. wetin kin apin pan Alpers sik na dat dεn batri dεm, di maytochכndria dεm, nכ de wok fayn fayn wan.
Dis we aw wi kin lɔs ɛnaji kin ambɔg tri pan di impɔtant pat dɛn na wi bɔdi mɔ.
1. Bren: Dimɛnshɔn kin apin bikɔs di bren nɔ de wok fayn, ɛn dis kin mek i nɔ ebul fɔ mɛmba fayn fayn wan.
2. Liva: Liva kin stɔp fɔ wok kpatakpata, we kin mek di liva nɔ wok fayn.
3. Mɔsul dɛm: Di sik kin apin bikɔs ɔf di abnɔmal ilɛktrik aktiviti na di bren.
Di sayn dɛm fɔ dis sik kin ɔltɛm sho pan ɛni ej, frɔm wan mɔnt to 36 ia. Bɔt dɛn kin si am mɔ we dɛn smɔl, mɔ we dɛn ol bitwin 2 ɛn 4. Sɔntɛnde, dis sik kin apin bak we dɛn yɔŋ, dat na bitwin 17 ɛn 24. I sɔri fɔ no se dis na bad bad sik, ɛn bɔku tɛm i kin dɔn wit day.
Dis sik kin kam bikɔs ɔf wan prɔblɛm we de na wi jɛnɛtiks we wi kin gɛt frɔm we dɛn bɔn wi. Dis min se ivin if di pikin gɛt di jin fɔ dis sik na in bɔdi we dɛn bɔn am, i kin tek sɔm wik, mɔnt, ɔ ivin ia fɔ mek di sik sho.
Dɛn kin kɔl Alpert in sik wit sɔm ɔda nem dɛm:
- Di sik we dɛn kɔl Alpers-Huttenlocher sindrom
- Di sik we dɛn kɔl Alpers syndrome
- Prɔgrɛsiv infantil poliodistrofi
Udat kin gɛt dis sik? Aw i kɔmɔn?
Ɛnibɔdi we gɛt di jin we nɔ fayn we de mek pɔsin gɛt Alpers sik kin gɛt dis sik. I kin afɛkt ɔl tu di man ɛn uman ikwal, ilɛksɛf na man ɔ uman.
Bɔt nɔ wɔri, dis na sik we nɔ kin apin so ɔltɛm. Di avrej we dɛn kin gɛt na lɛk 1 pan ɛvri 100,000 pipul dɛn . Dɛn kin tɔk bak se i kin bɔku smɔl pan pipul dɛn we kɔmɔt na Nɔtan Yurop.
Wetin mek Alper in sik kin apin? Wetin na di kɔz?
di men rizin fכ dis na di chenj, כ mכtεshכn, insay wan jin we dεn kכl `POLG1` na wi bכdi. Dis na sɔntin we dɛn kin pas frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn.
If yu tɔk am simpul wan, i tan lɛk dis. Fɔ mek yu gɛt pikin, yu nid fɔ gɛt wan jin frɔm yu mama ɛn wan jin frɔm yu papa. fכ divεlכp di Alpers sik, di pikin fכ gεt di dεfektiv `POLG1` jin frכm di mama εn di papa. Ivin if dɛn mama ɛn papa ɔl tu gɛt di jin we nɔ fayn, dɛn nɔ kin gɛt di sayn dɛn. Bɔt if di pikin gɛt ɔl tu di jin dɛn we nɔ fayn frɔm dɛn ɔl tu, di pikin go gɛt Alpers sik.
as wi bin dכn tכk bכt, dis difεkt na di `POLG1` jin de mek di DNA na di maytochכndria, di enεji sεntr dεm na wi sεl dεm, nכ de wok fayn fayn wan. Dis na di rizin we mek di ɔgan dɛn we nid mɔ ɛnaji lɛk di bren, di liva, ɛn di mɔsul dɛn, kin rili afɛkt.
Sɔm pipul dɛn we de stɔdi bɔt dis biliv se if sɔntin we de na di say we dɛn de, lɛk wan vayrɔs, afɛkt pɔsin we gɛt dɛn jin ya we nɔ fayn, i kin mek bak di sik bigin.
Wetin na di sayn dɛm fɔ dis sik?
De sayn dɛm fɔ Alpert in sik kin difrɛn as tɛm de go. Dɛn kin sheb dɛn to di fɔs sayn dɛm ɛn di wan dɛm wae kin apun as de sik de go bifo.
Di fɔs sayn we dɛn kin si na refractory epilepsy, we nɔ kin izi fɔ kɔntrol wit tritmɛnt.
Lɛ wi ɔndastand dɛn sik ya klia wan frɔm di tebul we de dɔŋ ya.
| Tayp fɔ di simptom | Tin dɛn fɔ si |
|---|---|
| Di men ɛn di fɔs sayn dɛm |
|
| Ɔda sayn dɛn we kin apin fɔs | |
| Di sayn dɛm wae kin apun as de sik de go bifo |
Aw dɔktɔ dɛn kin no bɔt dis sik?
Bɔku tɛm, yu dɔktɔ go tek tɛm luk yu pikin in sik, ɛn i go pe atɛnshɔn mɔ to di tri men sayn dɛn we wi bin dɔn tɔk bɔt : we i nɔ de mɛmba tin igen, in liva sik, ɛn epilepsy .
Apat frɔm dat, dɛn kin du sɔm ɔda tɛst dɛn fɔ no if pɔsin gɛt di sik.
| Tɛst | Aw fɔ du am ɛn wetin fɔ no |
|---|---|
| Sεribrospεnal fכluid analisis | spεnal tap min fכ put wan rili sכm nidul insay yu lכw bכk εn pul sכm sכm wata we de rawnd yu bren. Dɛn kin tɛst dis wata fɔ si if ɛnitin de we nɔ fayn pan sɔm kemikal dɛn na di bren. |
| EEG test `(Ilektroɛnsɛfalografi)` | sכm sכm mεtal plet dεm (εlektrod) dεn kin atak di sכkul fכ mכsu di ilektrikal aktiviti we di bren de du. EEG test kin sho se di bren aktiviti fɔ pɔrsin wae gɛt Alpers’ disease kin slo. |
| Test fɔ di jenɛtiks | Dɛn kin tek blɔd sɛmpul ɛn tɛst aw di jin dɛn de sikyud. dis kin kכrekt fכ no if mכtεshכn dεm de na di `POLG1` jin. |
| MRI skan `(Magnetik Rɛsɔnans Imej)` | We dɛn du MRI skan na di bren, dat kin sho se di grey tin dɔn bɔku na pɔsin we gɛt Alpers sik in bren. |
Yu tink se tritmɛnt de fɔ dis?
I sɔri fɔ no se te naw dɛn nɔ dɔn fɛn ɛni tritmɛnt fɔ mɛn Alpert in sik ɔ fɔ stɔp di sik fɔ go bifo.
Bɔt difrɛn tritmɛnt dɛn de we de sɔpɔt pɔsin we kin ɛp fɔ kɔntrol di sik dɛn, fɔ mek pɔsin nɔ fil fayn, ɛn fɔ mek in layf bɛtɛ. Yu dɔktɔ kin tɛl yu fɔ du tritmɛnt dɛn lɛk:
- Mεdikeshכn dεm fכ kכntrכl epileptic kכndishכn dεm: Dεn kin gi antikonvulsant mεdikeshכn dεm fכ ridyus di sik dεm we de mek yu sik.
- Fɔ it ɛn fɔ gɛt wata: If i nɔ izi fɔ swɛla it, dɛn kin put wan tiub (percutaneous endoscopic gastrostomy) insay yu bɛlɛ fɔ gi yu it ɛn wata.
- Di it: I nɔ gɛt bɔku prɔtin, yu kin it smɔl smɔl tin dɛn ɔltɛm.
- Fyzikal tritmɛnt: Ɛksesaiz ɛn tritmɛnt fɔ ridyus di mɔsul dɛn we stif ɛn fɔ mek di mɔsul dɛn strɔng.
- Ɔkupeshɔn tɛrapi: Trenin fɔ du ɛvride wok fɔ yusɛf.
- Speech therapy: I de ɛp fɔ gɛt prɔblɛm wit yu tɔk.
- Di mɛrɛsin dɛn we de mek pɔsin fil pen ɛn we de mek di mɔsul dɛn rilaks: Dɛn kin gi am mɛrɛsin fɔ mek di pen nɔ bɔku ɛn fɔ mek di mɔsul dɛn nɔ stif.
- sכpכt fכ brith: If i at fכ brith, dεn de εp fכ brith bay mashin dεm lεk `CPAP` כ `BiPAP®`, כ if nid de, bay `(tracheostomy)`.
Dɔn bak, yu dɔktɔ go du difrɛn blɔd tɛst dɛn (lɛk `Kɔmplit blɔd kɔnt - CBC`, `Liver function test`) ɛvri sɔm mɔnt fɔ wach di pɔsin in kɔndishɔn ɛn ajɔst di tritmɛnt as nid de.
If yu de kia fɔ pikin we sik...
Wi no se dis na waka we rili at fɔ waka. As di sik de go bifo, yu ɛn yu pikin kin nid ɛkstra sɔpɔt. Bɔrku spɛshal pipul ɛn savis dɛm de wae kin ɛp yu pan dis joyn.
- Spɛshal pipul dɛm: Yu kin aks fɔ ɛp frɔm gastroenterologist dɛm, nyutrishɔnist dɛm, ɛn saykayatrist dɛm.
- Ɔm Nɔs Savis: If pɔsin sik bad bad wan, dɛn kin kɔl di nɔs wokman dɛn we dɛn dɔn tren fɔ kam na yu os ɛn kia fɔ yu pikin.
- Palliative care teams: Dɛn tim ya kin ɛp fɔ gi di sɔpɔt ɛn maynd trɛnk we i nid fɔ mek di pikin fil fayn ɛn nɔ gɛt pen we di sik de dɔn.
Mɛmba se nɔto yu wangren de. Sɔpɔt grup dɛn de fɔ mama ɛn papa dɛn we gɛt pikin dɛn we gɛt Alpers sik ɛn ɔda mitochondrial sik dɛn. Yu kin sheb ɛkspiriɛns, sheb di tin dɛn we yu nid, ɛn gɛt di advays we yu nid.
Alpert in sik na wan sik wae de go bifo wae kin apun bitwin 4 ɛn 10 ia afta di sik bigin.
If yu no se dis jin de rɔn na yu famili ɛn yu de ɛkspɛkt pikin, i rili impɔtant fɔ mit ɛn tɔk to pɔsin we de advays yu bɔt jɛnɛtiks. Dɛn go gi yu di advays ɛn sɔpɔt we yu nid.
Mɛsej we dɛn kin kɛr go na os
- Alpers sik na wan sik wae nɔr kin bɔrku, wae kin gɛt siriɔs jenɛtik sik wae kin afɛkt di maytochondria.
- Dis kin mɔs afɛkt di bren, di liva, ɛn di mɔsul dɛm, ɛn di men sayn dɛm na di epilepsy, di liva we nɔ de wok fayn, ɛn di mɛmori we i nɔ de mɛmba.
- Pan ɔl we nɔrbɔdi nɔr de fɔ mɛn dis sik, bɔrku tritmɛnt de wae de sɔpɔt dis sik fɔ kɔntrol di sayn dɛm ɛn gi kɔrej to di pɔrsin.
- Bikɔs dis na tin we pɔsin kin gɛt frɔm in bɔdi, no we nɔ de fɔ ridyus di prɔblɛm. If famili histri de, i rili impɔtant fɔ gi advays bɔt di jɛnɛtiks.
- Fɔ kia fɔ pikin we sik lɛk dis na wok we rili at, so fɔ gɛt sɔpɔt frɔm dɔktɔ, nɔs savis, ɛn sɔpɔt grup go ɛp yu.
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