Yu smɔl pikin in bɛlɛ luk lɛk se i dɔn blo smɔl? Ɔ yu fil se yu pikin nɔ de gro di rayt we fɔ in ej? Sɔntɛnde, dɛn tin ya kin bi nɔmal tin. Bɔt na smɔl tɛm nɔmɔ, dɛn kin gɛt wan sik we nɔ kin bɔku we wi nɔ yɛri bɔt. Tide, wi de tɔk bɔt Niemann-Pick Disease, we de pan wan pan dɛn sik dɛn we nɔ kin bɔku. Nɔ fred we yu yɛri dis nem. Lɛ wi tɔk bɔt am simpul wan we yu go ɔndastand.
Wetin na di sik we dɛn kɔl Niemann-Pick?
Fɔ tɔk am simpul wan, Niemann-Pick sik na wan sik we wi kin gɛt frɔm wi mama ɛn papa we kin kɔmɔt frɔm di fat tin dɛn ɔ lipid dɛn we nɔ nid fɔ gɛda insay di sɛl dɛn na wi bɔdi.
Naw yu kin de wɔnda, "Wetin na dɛn lipid ya? Wetin mek dɛn kin gɛda?" Lɛ wi ɛksplen am dis we.
Tink bɔt ɛni sɛl na wi bɔdi lɛk smɔl faktri. Dis faktri nid ɛnaji fɔ wok. Da ɛnaji de kɔmɔt frɔm di it we wi de it. di fεt dεm (lipid dεm) εn di protin dεm we de insay dεn it dεm ya de brok dכn to sכm sכm pat dεm insay wi sεl dεm εn dεn de yuz dεm fכ mek εnεji. apat frכm dat, dεn lipid dεm ya (fכ egzampl, kכlestכl εn כyl) dεn nid dεm bak fכ bכku imכtant wok dεm, lεk fכ bil di wכl dεm na wi sεl dεm εn fכ mek כmon dεm.
Nɔmal wan, na pɔsin we gɛt wɛlbɔdi in bɔdi, we dɛn dɔn yuz dɛn lipid ya, ɔ if dɛn bɔku, spɛshal ɛnzaym dɛn de fɔ brok dɛn ɛn pul dɛn kɔmɔt na di bɔdi. Jɔs lɛk wan sistɛm we de pul dɔti na faktri we i dɔn fɔ wok.
Bɔt pan pɔsin we gɛt Niemann-Pick sik, wan jenɛtik difrɛns de pan di prodakshɔn fɔ di ɛnzaym ɔ protin dɛn we de brok di lipid dɛn we a bin tɔk bɔt. dis kin mek di lipid dεm we dεn nכ kin yuz, we nכ nid kin bigin fכ kכmכt insay di sεl dεm. I tan lɛk bɔku bɔku dɔti na faktri we gɛt brok brok dɔti we dɛn kin trowe.
dis we ya, di lipid dεm nכ de jכs kכmכt na wan ples.
- Bren
- Liva
- Spleen we de na di bɔdi
- Lɔng
- Bɔn mɛrɔ
Dɛn tin ya kin gɛda insay di sɛl dɛn na di impɔtant pat dɛn lɛk di at. As tɛm de go, dɛn lipid ya kin bɔku ɛn mek dɛn ɔgan dɛn de nɔ wok fayn. Na da tɛm de di sayn dɛm kin bigin fɔ sho.
Wetin na di men sayn dɛm fɔ dis sik?
di simptom dεm kin difrεn dipכnt pan di כgan we dεn lipid dεm ya de insay. Di sayn dɛm bak kin difrɛn difrɛn wan fɔ di kayn sik. Bɔt sɔm sayn dɛn de we kin apin to pɔsin.
Nyurolɔjik Simptom dɛn
dis simptom dεm de sho we di lipid dεm de dכn insay di bren sεl dεm.
- Ataxia: Dis na wan sik wae de mek di bɔdi in mɔsul dɛm nɔr kin ebul fɔ kɔntrol di muvmɛnt dɛm wae yu kin muv bay wilful, lɛk wae yu de waka ɔr de ol yu an fɔ sɔmtin. Di bɔdi kin fil se i nɔ tinap ɛn i nɔ kin tinap tranga wan.
- We di mɔsul dɛn wik:Di bɔdi kin fil se i nɔ gɛt layf, ɛn di mɔsul dɛn kin stɔp.
- Spasticity: Sɔntɛnde di mɔsul dɛn kin stif ɛn kin twitch. Muvmɛnt kin bi rili at.
- I nɔ izi fɔ tɔk: I nɔ de tɔk fayn, i nɔ ebul fɔ tɔk klia wan.
- Di we aw di bren de wok smɔl smɔl: Tin dɛn lɛk fɔ mɛmba tin ɛn aw fɔ lan kin go dɔŋ as tɛm de go.
Di sayn dɛm wae gɛt fɔ du wit ɔda pat dɛm na di bɔdi
- Di liva ɛn di splin we de swel: Bɔku tɛm dis na wan pan di fɔs sayn dɛn we pɔsin kin si. dis tu כgan dεm kin big bikoz fכ di lipid dεposit dεm. Dis kin mek di pikin in bɛlɛ kɔmɔt bifo ɛn tek lɛk se i dɔn swel.
- I nɔ kin izi fɔ swɛla ɛn drink: Dis sik kin afɛkt yɔŋ pikin dɛn mɔ.
- Chenj na di we aw yu yay de muv: I kin tranga fɔ luk ɔp ɛn dɔŋ.
- Kɔnia kin chenj: Di kɔnia kin bi klawd.
- Chɛri-rɛd spat: Dis na wan rili patikyula sayn. We dɔktɔ de chɛk di yay, dɛn kin si wan rɛd ples we tan lɛk chɛri na di midul pan di retina. Dis nɔ kin apin to ɔlman, bɔt sɔm sik pipul dɛn kin apin.
De impɔtant tin na dat, dɛn sayn ya nɔr kin apin wantɛm wantɛm. Dɛn kin divɛlɔp smɔl smɔl, smɔl smɔl. So, if yu gɛt ɛni dawt, i rili impɔtant fɔ go to dɔktɔ we sabi du di wok kwik kwik wan ɛn aks fɔ advays.
Tri men kayn dis sik de.
Niemann-Pick sik nɔto ɔltin di sem. Tri men kayn dɛn de (ɛn mɔ na sɔm klasification dɛn). Ɛni kayn sik gɛt difrɛn tin dɛn we kin mek i sik, di sayn dɛn we i kin gɛt, ɛn aw i kin bi. Lɛ wi yuz wan tebul fɔ ɛp wi fɔ ɔndastand di difrɛns.
| Di kayn sik we pɔsin kin gɛt | Men tin dɛn ɛn di tin dɛn we Gɔd mek | Rizin |
|---|---|---|
| Tayp A |
| Insufisεnt aktiviti fכ di εnzym sphingomyelinase. dis εnzym de brok dכn di lipid sphingomyelin. |
| Tayp B | di kכz na di sem wit di tayp A. dat min se di aktiviti fכ di sphingomyelinase εnzym de rεdכks. כltu, insay dis kes, we yu kכmpεr wit tayp A, sכm aktiviti fכ di εnzym de stil. | |
| Tayp C | Di tin we kin mek i apin nɔto ɛnzaym. na dεfisit na wan pan tu protin dεm we dεn kכl NPC1 כ NPC2. dis protin dεm de transpכt kכlestכl εn כda lipid dεm insay di sεl dεm. |
Wan smɔl not bɔt tayp D
Trade, pipul dɛn we gɛt tayp C, we kɔmɔt frɔm wan kɔmɔn ansesta na di Nova Scotia rijɔn na Kanada, dɛn bin de kɔl dɛn tayp D. Bɔt wi no naw se na wan kɔndishɔn bak we de pan tayp C, ɛn na wan patikyula prɔblɛm we de na di NPC1 jin kin mek am.
Yu tink se tritmɛnt de fɔ dis?
Fɔ no di ansa to dis kwɛstyɔn rili impɔtant fɔ yu ɛn ɔlman. Fɔ tɔk tru, te to dis tɛm, no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl Niemann-Pick.
So wetin dɔktɔ dɛn kin du?
Di tritmɛnt dɛn we dɛn de gi naw na tritmɛnt we de sɔpɔt pɔsin . Dat min se, pan ɔl we dɛn nɔ go ebul fɔ mɛn di sik, dɛn kin kɔntrol di sayn dɛm, gi di pɔsin we gɛt kɔmfɔt as i pɔsibul, ɛn ɛp fɔ mek layf izi.
- Protekshɔn frɔm infɛkshɔn: Dɛn sik pipul ya, mɔ pikin dɛn, kin gɛt infɛkshɔn ɔltɛm. So, i rili impɔtant fɔ protɛkt dɛn frɔm infɛkshɔn lɛk nyumonia.
- Nyutrishɔn: Pikin dɛn we nɔ kin izi fɔ swɛla kin nid fɔ gi dɛn tin fɔ it tru wan tiub we dɛn kin yuz fɔ swɛla.
- Fisiotɛrapi: Ɛksesaiz ɛn fizik tɛrapi tritmɛnt kin ɛp fɔ kɔntrol di mɔsul dɛn we stif (spasticity) ɛn mek di jɔyn dɛn wok fayn.
- Tritmɛnt fɔ di prɔblɛm dɛn we pɔsin kin gɛt we i de blo: If di lɔng dɛn afɛkt, lɛk di wan dɛn we gɛt tayp B, dɛn kin nid fɔ gi ɔda ɔksijɛn.
Di tritmɛnt dɛn we dɛn kin yuz fɔ tray fɔ du am
- Bɔn mɛrɔ transplant: Dɛn dɔn tray dis pan sɔm pipul dɛn we gɛt tayp B, bɔt i nɔto standad tritmɛnt yet.
- Enzyme replacement therapy and gene therapy: Sayɛnsman dɛn op se dɛn tritmɛnt ya go bɛnifit sɔm pipul dɛn we gɛt tayp B tumara bambay, bɔt dɛn tin ya stil de na di risach stej.
Bɔku pipul dɛn kin tink se if dɛn kɔntrol di tin dɛn we dɛn de it ɛn nɔ it bɔku tin dɛn we gɛt fat, dɛn kin stɔp dɛn lipid ya we de gɛda. Bɔt di tru tin na dat, we dɛn chenj di tin dɛn we dɛn de it, dat nɔ go ebul fɔ stɔp di lipid dɛn we de gɛda insay di sɛl dɛn. biכs di prכblεm nכ de pan di fεt dεm we dεn de it frכm do, bכt na wan prכsεs we de apin insay di sεl dεm bikoz fכ wan jεnεtik dεfεkt na di bכdi.
Wetin yu go se bɔt tumara bambay? (Prɔgnosis) .
Dis na tɔpik we rili sɛnsitiv fɔ tɔk bɔt. Di fiuja fɔ pɔsin we sik, ɔ di prɔgnosis, dipen ɔl pan di kayn sik we i gɛt.
- Tayp A: As wi bin dɔn tɔk, dis na di kayn we we kin rili bad. di pikin dεm we gεt dis kכndyushכn kin day we dεn bεlε, bifo dεn rich 2-3 ia, bikoz fכ infεkshכn כ di nεv sεstem dεm we nכ de wok fayn.
- Tayp B: Dɛn sik pipul ya kin liv lɔng layf. Sɔm kin liv te dɛn big. Bɔt bikɔs dɛn lɔng dɔn pwɛl, dɛn kin nid fɔ gɛt dɔktɔ fɔ kia fɔ dɛn fɔ ɔl dɛn layf ɛn sɔntɛnde dɛn kin nid fɔ gɛt ɔksijɛn sɔpɔt.
- Tayp C: .E kin tranga fɔ no aw dis sik go kam tumara bambay, bikɔs di ej wae de sik de sho ɛn aw de sik kin de kin difrɛn frɔm pɔrsin to ɔda pɔrsin. Sɔm pikin dɛn kin day we dɛn yɔŋ, ɛn di wan dɛn we gɛt di sik we kin bigin let ɛn we nɔ kin rili bad kin liv te dɛn big.
Mɛsej we dɛn kin kɛr go na os
- Niemann-Pick sik na wan sik we nɔ kin bɔku, we pɔsin kin gɛt frɔm in mama ɛn papa we kin mek di fat tin dɛn (lipid) gɛda insay di bɔdi in sɛl dɛn.
- Tri men kayn dis de (A, B, ɛn C). Tayp A na di wan we kin rili bad pas ɔl. Tayp B kin afekt di lכng dεm εn di liva mεntal wan, we di tayp C kin afekt di nεv sεstem bad bad wan.
- yu kin si di simptom dεm lεk bכdi swεla (liva/splin big), i at fכ waka, εn fכ gro sכmtεm dεn kin si fכs.
- Nɔr mɛrɛsin nɔr de fɔ dis sik yet. Ɔl wetin dɛn kin du na fɔ kɔntrol di sik dɛn ɛn gi di pɔsin we sik.
- If yu gɛt ɛnitin fɔ tink se yu pikin gɛt ɛni wan pan dɛn sik ya, nɔ panik ɛn go to dɔktɔ we sabi bɔt pikin dɛn ɔ ɔda dɔktɔ kwik kwik wan.
- Risach bɔt sik dɛn we nɔ kin bɔku lɛk dis de apin ɔlsay na di wɔl. Lɛ wi ɔl op se bɛtɛ tritmɛnt dɛn go kɔmɔt tumara bambay.
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