Yu dɔn ɛva fil lɛk se yu smɔl pikin wik smɔl pas ɔda pikin dɛn, ɔ dɛn gɛt prɔblɛm fɔ ol dɛn nɛk stret? Ɔ sɔntɛm yu big pikin de fɔdɔm ɔltɛm ɔ i gɛt prɔblɛm fɔ klaym stej? Yu kin tink se dɛn tin ya na nɔmal tin ɛn dismis dɛn, bɔt tide wi go tɔk bɔt wan siriɔs rizin we kin de biɛn dɛn sɔntɛnde. Dat na Spinal Muscular Atrophy , ɔ SMA lɛk aw wi dɔktɔ dɛn kin kɔl am.
Okay, so wetin na dis SMA?
Fɔ tɔk am simpul wan, dis na sik we pɔsin kin gɛt frɔm in jɛnɛtiks. Fɔ mek di mɔsul dɛn na wi bɔdi ebul fɔ muv ɛn wok, mɛsej nid fɔ kɔmɔt na di bren to dɛn mɔsul dɛn de. di spεshal nεv sεl dεm (mכtal nyuron dεm) we de na wi spεnal kכd de kכri dεn mεsej dεm ya. fכ bi prεsis, dεn nεv sεl dεm ya na dεn wan dεm we de gi di kכmand to di mכsul dεm fכ "kכntrakt" εn "εkstεnd."
insay SMA, wan jεnεtik dεfεkt de mek dεn nεv sεl dεm ya wik sכmtεm εn day. Tink bɔt am lɛk waya we de kɛr ilɛktrishɔn go na ilɛktrik aplayans we de pwɛl smɔl smɔl, ɛn dis kin mek di ilɛktrishɔn we i kin kɛr nɔ bɔku. Semweso, as di nεv sεl dεm de wik, di mεsej dεm we dεn de sεnd to di mכsul dεm de wik bak. Dis kin mek di mɔsul dɛn kin smɔl smɔl ɛn nɔ kin gɛt trɛnk bikɔs dɛn nɔ kin yuz dɛn. Dis na wetin wi kin kɔl muscular atrophy.
Wetin na di men kayn SMA?
SMA nɔ de afɛkt ɔlman di sem we. Dɛn kin sheb am to sɔm men kayn dɛn bay di ej we di sik bigin ɛn aw di sik kin tranga. di divεlכ pmεnt maylston dεm we pikin de rich we i de divεlכp - lεk fכ ol in nεk, sidon כp, εn waka - rili imכtant insay dis klasification.
Fɔ mek i izi fɔ ɔndastand, lɛ wi luk dɛn kayn dɛn ya na wan tebul.
| SMA tayp | Di ej we di sik bigin fɔ gɛt | Men tin dɛn ɛn di stetɔs |
|---|---|---|
| Tayp 0 | Bifo dɛn bɔn am ɔ jɔs afta dɛn bɔn am | Wan kayn we we rili siriɔs ɛn we nɔ kin apin so ɔltɛm. Bɔku tɛm, i kin kil pɔsin. |
| Tayp 1 | Frɔm we dɛn bɔn am te i rich 6 mɔnt | Di kayn we we kɔmɔn pas ɔl. Nɔ ebul fɔ ol di nɛk ɔp. Limb ɛn limb dɛn kin flop. Nɔ ebul fɔ sidɔm we dɛn nɔ gɛt sɔpɔt. I nɔ izi fɔ blo ɛn swɛla. |
| Tayp 2 we de na di wɔl | Bitwin 3 ɛn 15 mɔnt | I kin sidɔm we i nɔ gɛt sɔpɔt, bɔt i nɔ kin ebul fɔ tinap ɔ waka. Wiknɛs nɔ kin bɔku na di an pas di leg. I nɔ kin izi fɔ blo we yu de slip. |
| Tayp 3 we yu de du | Afta 18 mɔnt te i yɔŋ | I ebul fɔ waka ɛn tinap fɔ insɛf, bɔt i kin fɔdɔm bɔku tɛm, i nɔ kin izi fɔ klaym stej, ɛn i nɔ kin izi fɔ kɔmɔt na chia. As tɛm de go, dɛn go nid fɔ ɛp wi wit wilchia. |
| Tayp 4 | We pɔsin big (20s-30s) . | Wan kayn we we nɔ bɔku. di mכsul dεm we de wik sכmtεm εn i kin at fכ brith sכmtεm. Di sayn dɛm kin kam kwik kwik wan. Di layf we pɔsin kin liv nɔ kin afɛkt. |
Naw lɛ wi tɔk bɔt ɛni wan pan dɛn kayn dɛn ya smɔl mɔ.
SMA tayp 1 (Werdnig-Hoffmann sik) .
Dis na de kayn wae wae kin pasmak ɛn wae kin tranga pasmak. dis pikin dεm de sho di sayn dεm bifo dεn ol 6 mכnt. Bɔrku tɛm, di sayn dɛm kin bigin fɔ sho as ali as 3 mɔnt. Dis na tin we kin rili mek mama ɛn papa fil pen. Di pikin kin fil se i nɔ gɛt layf. Lɛk rag dɔl. Dɛn nɔ go ebul fɔ ol di nɛk stret. Di limb dɛn de hang dɔŋ. Bikɔs i nɔ kin izi fɔ drink milk ɛn ivin swɛla it, i kin mek i nɔ gɛt bɛtɛ tin fɔ it. Dɔn bak, di mɔsul dɛm we de ɛp fɔ blo kin wik, so di risk fɔ gɛt infɛkshɔn na di say we pɔsin de blo kin bɔku. Di sɔri tin na dat bɔku pan dɛn pikin ya nɔ kin liv fɔ 2 ia.
SMA tayp 2 (Dubowitz sik) .
Dis na wan kayn intamɛdiet siriɔs. Imajin, yu pikin sidɔm fayn ɛn ple, bɔt nɔ de tray fɔ grap ɔ waka bay 6-7 mɔnt. Dis na di sɛkɔn kayn sik. Bɔrku tɛm, di sayn dɛm kin bigin bifo di pikin ebul fɔ tinap ɛn waka fɔ insɛf. Dɛn pikin ya kin gɛt smɔl mɔ trɛnk na dɛn an pas na dɛn leg. Bɔt dɛn nɔ ebul fɔ tinap ɛn waka fɔ dɛnsɛf. As dɛn de ol, sɔntɛm we dɛn de na dɛn tɛn ia, dɛn kin nid sɔpɔt fɔ sidɔm. Dɛn kin gɛt prɔblɛm bak fɔ blo we dɛn de slip, so dɛn fɔ tink bɔt dis bak. Dipen pan aw de sik kin tranga, di layf we pɔsin kin liv kin shɔt pas aw i kin liv.
SMA tayp 3 (Kugelberg-Welander sindrom) .
Dis na wan we we nɔ kin rili at fɔ du. Dis kayn sik kin apin frɔm 1 1/2 ia (18 mɔnt) te to yɔŋ pɔsin. Dɛn pikin ya kin ebul fɔ waka ɛn tinap fɔ dɛnsɛf. Bɔt di prɔblɛm na dat dɛn kin fɔdɔm bɔku tɛm, i nɔ kin izi fɔ dɛn fɔ rɔn ɛn jomp, ɛn i nɔ kin izi fɔ dɛn fɔ grap na chia ɔ fɔ klaym stej. As di mɔsul dɛn de wik as tɛm de go, dɛn kin nid wilchia fɔ ɛp dɛn leta. Bɔt di gud nyus na dat dɛn pikin ya kin liv nɔmal layf.
SMA tayp 4 (SMA fɔ big pipul dɛn) .
Dis na wan kayn we we nɔ kin apin so ɔltɛm. Di sayn dɛm kin bigin wae pɔrsin dɔn big, bɔrku tɛm na di 20 ɔr 30 ia. Yu kin gɛt smɔl wikɛd na yu an ɛn yu fut, ɛn sɔmtɛm yu kin gɛt shɔt briz. Dɛn sayn ya kin kam so smɔl smɔl dat sɔm pipul dɛn nɔ kin ivin no se dɛn gɛt dis sik fɔ lɔng lɔng tɛm. I nɔ de afɛkt di layf we pɔsin de liv.
Mɛmba se, pan kes dɛm lɛk dis, di tin we impɔtant pas ɔl na fɔ no di sik kwik kwik wan ɛn go to di rayt dɔktɔ.
Wetin yu kin du if yu si sayn dɛn lɛk dis?
If yu tink se yu pikin gɛt ɛni wan pan di sayn dɛn we dɛn rayt na dis atikul, duya nɔ fred ɛn go to dɔktɔ we sabi du di wok wantɛm wantɛm, mɔ to dɔktɔ we de mɛn pikin dɛn. Nɔ tray fɔ no yusɛf bay di intanɛt ɔr wetin yu yɛri. Dis kin mek pɔsin denja. Di dɔktɔ go chɛk yu pikin ɛn if nid de, i go rifer yu fɔ mek dɛn du yu jenɛtik tɛst fɔ no if di sik rili tan. If dɛn kɔnfyus di kɔndishɔn, dɛn go tɛl yu bɔt di patikyula kayn we aw dɛn fɔ mɛn am, di fisiotɛrapi, ɛn di nyu tritmɛnt dɛn we de kam.
Mɛsej we dɛn kin kɛr go na os
- Spinal Muscular Atrophy (SMA) na wan kכndyushכn we de kכz we di nεv dεm na di spεnal kכd de wik.Na sik we pɔsin kin gɛt we i de mek in mɔsul dɛn west.
- Bɔku men kayn dɛn de, i kin dipen pan di ej we di sik bigin ɛn aw i kin tranga.
- If yu notis sayn dɛm we de sho se yu pikin de flop, i de delay fɔ divɛlɔp, ɔ i de fɔdɔm ɔltɛm, nɔ ignore am.
- I rili impɔtant fɔ avɔyd fɔ no yusɛf ɛn go to dɔktɔ we sabi du di wok wantɛm wantɛm fɔ gɛt di rayt advays.
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