Yu go dɔn si pikin we gɛt wɛlbɔdi, we de rɔn rawnd ɛn ple, smɔl smɔl i nɔ kin izi fɔ am fɔ waka ɔ tɔk, ɔ di we aw dɛn de biev kin chenj smɔl smɔl. As mama ɔ papa, we dɛn bin de du wɛl fɔs, ɛn afta dat dɛn kin fil lɛk se dɛn pikin in abiliti de go bifo as tɛm de go, i nɔ kin izi fɔ tɔk bɔt di fred ɛn wɔri we yu de fil. Di rizin fɔ dis kin bi wan sik we nɔ kin apin so ɔltɛm we nɔbɔdi pan wi nɔ yɛri bɔt. Tide wi de tɔk bɔt wan grup we gɛt dɛn kayn sik ya. Dat na lukodistrofi .
Fɔ tɔk am simpul wan, wetin na lukodistrofi?
Lukodistrofi nɔto wan sik. na wan grup fכ sik dεm we de afekt wi sεntri nεv sεstem (dat na di bren εn di spεnal kכd). Dɔktɔ dɛn de fɛn nyu tin dɛn bɔt am ɔltɛm. Naw, dɛn dɔn no bɔt lɛk 52 kayn dis sik.
Bɔrku pan dɛn kayn lukodistrofi ya na jɛnɛtik . Dat min se, dɛn kin gɛt frɔm mama ɛn papa to pikin dɛn. Sɔntɛnde, di pikin kin sho sɔm sayn dɛn jɔs afta dɛn bɔn am. Bɔt sɔm pikin dɛn kin bɔn wit di jin we nɔ fayn we gɛt fɔ du wit di sik, bɔt we dɛn bigin, i kin tan lɛk se dɛn gɛt wɛlbɔdi ɔlsay.
Di impɔtant tin na dat dɛn kayn tin ya kin go bifo, we min se pikin we bin gɛt wɛlbɔdi fɔs kin gɛt di sayn dɛn leta.
Wetin na di sayn dɛm fɔ dis sik?
Ɔl dɛn kayn lukodistrofi ya gɛt wan tin we kɔmɔn: dɛn kin pwɛl di maylin sheath na di bren.
Imajin se ilɛktrik waya de na wi os. Plastik shea de rawnd di kɔpa waya insay, nɔto so? Na dat de mek di ilɛktrishɔn go jɔs usay i nid fɔ go, ɛn i nɔ de lik. semweso, wi nεv dεm gεt wan wayt fεt sεt we dεn kכl ‘myelin’ rawnd dεm. dis maylin sεt de wok fכ kכri di nεv mεsej dεm kכrekt εn kwik to di bren εn frכm di bren to di pat dεm na di bכdi. we dis maylin sεt dεm dכn pwεl, wi nεv sεstem nכ kin wok fayn fayn wan.
Ɛni kayn lukodistrofi kin pwɛl dis maylin swɛt difrɛn we dɛn, so di prɔblɛm dɛn we pikin dɛn kin gɛt kin difrɛn bad bad wan.
| Eria fɔ di sayn dɛm | Kɔmɔn prɔblɛm dɛn we dɛn kin si |
|---|---|
| Bɔdi balans ɛn muv | I nɔ izi fɔ waka, fɔ fɔdɔm ɔltɛm, nɔ ebul fɔ kɔntrol di bɔdi. |
| Di we aw pɔsin de biev ɛn di we aw i de lan | Lanin disabiliti, mɛmori lɔs, chenj pan bihayvya. |
| Grɔw ɛn divɛlɔpmɛnt | we yu nכ de sho di divεlכpmεnt we fit di ej (e.g., fכ delay fכ tכk, fכ waka). |
| Di wok we di sɛns dɛn de du | Smɔl smɔl, i nɔ de yɛri, i nɔ de si fayn, ɛn i nɔ de ebul fɔ tɔk. |
| Ɔda prɔblɛm dɛn we gɛt fɔ du wit di nerve | I nɔ kin izi fɔ blo, i kin gɛt prɔblɛm wit di we aw yu de kɔntrol yu urinary, yu kin gɛt sik we yu de fil. |
Fɔ ɛgzampul, pan wan kayn sik we dɛn kɔl Kanavan sik , di pikin in nɛk mɔsul dɛn kin paralayz, bɔt in an ɛn fut dɛn kin stil strɔng. Dɛn kin lɔs dɛn yay bak ɛn dɛn kin gɛt sik we dɛn kɔl seizure.
Sɔntɛnde, di sayn dɛn kin sho we dɛn bɔn am. Bɔt pan wan kayn sik lɛk Refsum Disease , di sayn dɛm kin apia arawnd di ej ɔf 20. Sɔmtɛm dɛn kin apia as ali as di ej ɔf 50. Dɛn kin si tin dɛm lɛk we di retina wik, we i nɔ de yɛri, ɛn we i nɔ de smɛl igen.
Bikɔs de sik kin difrɛn, e kin tranga smɔl fɔ no bɔt dis sik.
Wetin mek dis kayn sik kin apin? Wetin na di kɔz?
As wi bin dɔn tɔk, bɔku pan dɛn sik ya na tin dɛn we pɔsin kin gɛt frɔm in jɛnɛtiks. Dis min se na difεkt na di jin dεm we kכmכt frכm di mama כ di papa, כ dεn tu de kכz dεm.
Bɔt sɔm kayn dɛn nɔ kin kɔmɔt frɔm dɛn mama ɛn papa. Dɛn kin kam bikɔs ɔf wan nyu jɛnɛtik muteshɔn. Fɔ ɛgzampul, i tan lɛk se Alɛgzanda sik nɔ kin kɔmɔt frɔm am. Dis min se ilɛksɛf ɛni mama ɛn papa nɔ gɛt di jin we nɔ fayn, pikin kin stil gɛt am.
So, pan ɔl we wan pikin na di sem famili kin gɛt lukodistrofi, di ɔda pikin dɛn nɔ kin gɛt am.
If wan pan yu pikin dɛn gɛt lukodistrofi ɛn yu de op fɔ gɛt ɔda pikin, i rili impɔtant fɔ go to advays bɔt yu jɛnɛtiks . Dis go ɛp yu fɔ ɔndastand dis ɛn di risk fɔ gɛt pikin wit am tumara bambay. Tɔk to yu dɔktɔ bɔt dis.
Aw dɔktɔ dɛn kin no dis sik kɔrɛkt wan?
Fɔ no dis sik na smɔl tin bikɔs di sayn dɛm kin difrɛn. So, dɔktɔ dɛn gɛt fɔ du difrɛn kayn tɛst dɛn.
| Test tayp | Fɔ tɔk am simpul wan... |
|---|---|
| Blɔd ɛn urine tɛst | Fכ no di abnכmal tin dεm na di bכdi in kεmikכl prכsεs dεm. |
| MRI skan dɛn we dɛn kin du | fכ gεt rili klia, ditayl imej dεm fכ di bren εn di nεv sεstem fכ chεk fכ damej pan di maylin sεt. |
| CT skan dɛn we dɛn kin du | Wan ɔda imej tɛst fɔ no di chenj dɛn we de apin na di bren strɔkchɔ. |
| Test fɔ di jenɛtiks | Fɔ no di patikyula jɛnɛtik dɛfɛkt we de mek di sik. |
| Tɛst dɛn we pɔsin kin gɛt pan pɔsin in maynd ɛn in sɛns | Fɔ tɛst di pikin in tinkin, lanin, ɛn mɛmori abiliti. |
Yu tink se tritmɛnt de fɔ dis?
Infakt, no definitiv mɛrɛsin stil nɔ de fɔ bɔku kayn lukodistrofi. Bɔt dis nɔ min se natin nɔ de we pɔsin go ebul fɔ du.
We dɛn de trit di pikin, di dɔktɔ dɛn kin pe atɛnshɔn fɔ kɔntrol di sayn dɛn we di pikin gɛt ɛn fɔ mek di pikin kɔntinyu fɔ liv fayn layf di bɛst we aw dɛn ebul. Di tritmɛnt dipen pan di kayn lukodistrofi we di pikin gɛt.
Di tritmɛnt dɛn we dɛn kin yuz na:
- Fɔ gi mɛrɛsin fɔ kɔntrol di simptom dɛm (e.g., fɔ kɔntrol di sik we de mek pɔsin sik).
- Spɛshal tritmɛnt dɛn lɛk fizik tritmɛnt, wok tɛrapi, ɛn tɔk , kin ɛp fɔ mek di pikin ebul fɔ muv fayn fayn wan, fɔ ebul fɔ du wok dɛn we i de du ɛvride, ɛn fɔ tɔk.
- Sɔm pikin dɛn kin nid ɛkstra ɛp fɔ lan ɛn it .
Sɔntɛnde, we dɛn transplant bon mɛrɔ, i kin mek di sik slo ɔ stɔp fɔ go bifo. Sayɛnsman dɛn de du risach bak bɔt nyu tritmɛnt dɛn lɛk jin tɛrapi .
Wit ɔl dis, di tin we impɔtant pas ɔl na fɔ kɔntinyu fɔ tɔk to yu dɔktɔ ɛn fala in instrɔkshɔn dɛn.
Mɛsej we dɛn kin kɛr go na os
- Lukodistrofi na wan grup we nɔ kin apin so ɔltɛm we kin pwɛl di nerve we de kɔba (myelin sheath) na di bren.
- Ivin if di pikin gɛt wɛlbɔdi fɔs, di sayn dɛn kin sho smɔl smɔl as tɛm de go ɛn di sik kin wɔs.
- If yu notis se yu pikin in waka, tɔk, si, ɔ biev dɔn pwɛl we yu nɔ ɛksplen, go to dɔktɔ we yu nɔ go te.
- Pan ɔl we nɔr patikyula mɛrɛsin nɔr de fɔ bɔrku kayn mɛrɛsin, tritmɛnt dɛn de fɔ kɔntrol di sayn dɛm ɛn fɔ mek di pikin in layf bɛtɛ.
- Tɔk to yu dɔktɔ opin wan bɔt ɛnitin we yu de fred, dawt, ɔ kwɛstyɔn we yu gɛt.
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