Yu dɔn ɛva fil lɛk se yu de shek shek wantɛm wantɛm we yu de waka, ɔ fɔ se yu nɔ de balans igen? Ɔ yu kin si am se i nɔ kin izi fɔ yu fɔ tɔk ɔ fɔ ol to sɔntin wit yu an? Dɛn tin ya kin bi sayn fɔ sɔntin we dip pas fɔ jɔs taya. Tide wi de tok abaut wan rare kondishon we plenti pipul fo wi kontri no ivin hie abaut, bot i rili impotant fo bi aware of. Dat na Friedreich in Ataxia (FA).
Wetin rili na Friedreich in Ataxia (FA)?
Fɔ tɔk am simpul wan, na wan sik we de kɔmɔt frɔm wi jɛnɛtiks we kin pwɛl wi nervɔs sistɛm smɔl smɔl as tɛm de go, we kin mek wi bɔdi nɔ de muv fayn, i nɔ kin izi fɔ waka, tɔk, ɛn swɛla, ɛn i kin mek wi nɔ ebul fɔ si ɛn yɛri fayn.
Tink bɔt di nɛf dɛn we de na wi bɔdi lɛk tɛlifon waya. Dɛn nɛv ya kin kɛr mɛsej frɔm di bren to di ɔda pat dɛn na di bɔdi. Dis kɔmyunikeshɔn impɔtant fɔ mek wi ebul fɔ muv wi an ɛn fut, waka, ɛn tɔk. insay FA, dεn nεv waya dεm ya de wik sכmtεm εn stכp fכ wok fayn fayn wan.
Dis sik kin afɛkt bak di pat na wi bren we dɛn kɔl di sɛribɛl . Dis pat rili impɔtant fɔ kɔntrol di we aw wi bɔdi de muv ɛn balans. Bɔt di bɛst tin na dat, FA sik nɔ de afɛkt yu mɛmori, sɛns, ɔr ebul fɔ tink. Dat min se, ivin if yu gɛt dis sik, di we aw yu de tink kin stil nɔmal.
Wetin mek dis de apin?
Dis na wan sik we pɔsin kin gɛt we i kam pan jɛnɛtiks. Dat min se i de rɔn insay famili frɔm jɛnɛreshɔn to jɛnɛreshɔn. As yu no, na di jin dɛn de kɔntrol ɔltin na wi bɔdi. Di tin we kin mek pɔsin gɛt dis sik na wan prɔblɛm we de na wan jin we dɛn kɔl FXN. Fɔ mek pɔsin gɛt dis sik, i fɔ gɛt kɔpi fɔ dis FXN jin we nɔ fayn frɔm in mama ɛn papa.
di FXN jin de instrakt di bכdi fכ mek wan spεshal protin we dεn kכl frataxin . Dis protin impɔtant fɔ mek wi sɛl dɛn, mɔ di nɛv sɛl dɛn ɛn di at mɔsul sɛl dɛn, mek dɛn gɛt ɛnaji. we yu gεt tu FXN jin dεm we nכ de wok fayn, di bכdi nכ kin mek inof fכ di frataxin protin.
we dis protin nכ de, nכto nכmכ sεl dεm nכ kin prodyuz εnεji fayn fayn wan, bכt pכyzin tin dεm, spεshal ayכn, kin bigin fכ kכlכm insay di sεl dεm. As tɛm de go, dis na wetin de pwɛl di nervɔs sistɛm ɛn mek di simptom dɛm fɔ FA.
Di impɔtant tin na dat pikin go jɔs gɛt dis sik if in mama ɛn papa ɔl tu gɛt dis jin we nɔ fayn. If na wan mama ɔ papa nɔmɔ gɛt di sik, di pikin nɔ go gɛt di sik.
Wetin na di men sayn dɛm fɔ dis sik?
Bɔrku tɛm, de sik kin bigin bitwin 5 ɛn 15 ia. Bɔt sɔmtɛm de sik kin kam bifo ɔr bɔrku leta, wae pɔrsin dɔn big.
Di fɔs sayn dɛn na we i nɔ kin izi fɔ tinap ɛn waka, ɛn i nɔ kin ebul fɔ balans . Dɔktɔ dɛn kɔl dis gait ataxia . As tɛm de go, dɛn sik ya kin bɔku smɔl smɔl, ɛn nyu sayn dɛn kin kam.
| Tayp fɔ di simptom | Tɔk bɔt |
|---|---|
| Men nyurolɔjik ficha dɛn |
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| Ɔda tin dɛn we pɔsin kin si |
|
Aw yu kin no dis sik kɔrɛkt wan?
We yu ɔ yu pikin go to dɔktɔ, i go fɔs chɛk yu bɔdi ɛn aks yu kwɛstyɔn bɔt di sayn dɛn we yu gɛt. I go pe atɛnshɔn mɔ to dɛn tin ya:
- Yu gɛt prɔblɛm wit yu balans?
- Yu dɔn lɔs filin na yu jɔyn dɛn?
- Yu tink se di riflɛs dɛn dɔn lɔs?
- Ɛni ɔda sayn dɛn de we gɛt fɔ du wit di nervɔs sistɛm?
If di dɔktɔ sɔspɛkt se dis kin bi FA bay dɛn simptom ya, i go mɔs rifer yu fɔ mek dɛn du yu jenɛtik tɛst. כnli tru da tεst de wi kin dεfinitivli fכ no if difεkt de na di FXN jin.
Apat frɔm dat, dɛn kin du bɔku ɔda tɛst dɛn fɔ si aw dɛn dɔn pwɛl di at ɛn di nerv dɛn:
- MRI ɔ CT skan fɔ chɛk di bren ɛn di spɛnal kɔd.
- Wan ilɛktromayogram (EMG) tɛst fɔ chɛk aw di mɔsul ɛn di nerv dɛn de wok.
- stכdi dεm fכ di nεv kכndukshכn de luk pan di spid we di mεsej dεm de travul tru di nεv dεm.
- Chek di wok we di at de du wit ilɛktrokardiogram (EKG/ECG) ɛn/ɔ ɛkokadiogram (Echocardiogram) .
- Blɔd tɛst fɔ chɛk di blɔd shuga lɛvɛl ɛn vaytamɛn E lɛvɛl.
Wetin na di tritmɛnt dɛm fɔ dis?
Naw, no mɛrɛsin nɔ de fɔ FA. Bɔt, bɔrku tin de wae yu kin du fɔ kɔntrol de sik ɛn mek yu layf izi. I nɔ tu te yet, di FDA na Amɛrika bin gri fɔ mek dɛn yuz wan mɛrɛsin we dɛn kɔl Skyclarys (omaveloxolone) fɔ di sik.
Yu dɔktɔ, fisiotɛrapist, ɛn ɔda spɛshal pipul dɛn go wok togɛda fɔ ɛp yu. Di tritmɛnt plan kin inklud:
- Ɔpreshɔn ɔ yuz spɛshal sɔpɔt (brɛs) fɔ bak pen ɔ fɔ mek yu fut nɔ fayn.
- Fizik tritmɛnt fɔ mek di bɔdi kɔntinyu fɔ wok as i pɔsibul.
- Spich therapy fɔ tɔk ɛn swɛla prɔblɛm.
- Ikwipmɛnt lɛk spɛshal sus, ken, ɔ wilchia fɔ mek i izi fɔ waka.
- Mɛrɛsin fɔ mek pɔsin fil pen if nid de.
- Fɔ trit tin dɛm lɛk shuga ɛn at sik wae kin apun wit dis sik.
Mental wɛlbɔdi ɛn fɔ gɛt sɔpɔt
Na nɔmal tin fɔ fil bad ɛn shɔk we yu kam fɔ no se yu gɛt wan sik lɛk dis we nɔ kin bɔku ɛn we nɔ kin mɛn. Na dat mek i impɔtant fɔ tink bɔt yu maynd wɛl bɔdi lɛk aw yu bɔdi gɛt wɛlbɔdi.
If yu de fil tranga wan ɔr de fil pwɛl hat, nɔr frayd fɔ tɔk to yu dɔktɔ bɔt dat. I kin rifer yu to pɔsin we sabi bɔt mental wɛlbɔdi biznɛs.
Mɛmba se, pwɛl hat na sik wae dɛn kin trit.I kin rili fayn bak fɔ tɔk to yu fambul ɛn padi dɛn bɔt aw yu de fil. Fɔ jɔyn sɔpɔt grup usay yu kin mit ɔda pipul dɛm wae de liv wit di sem sik lɛk yu kin ɛp yu fɔ fil lɛk yu wan.
Mɛsej we dɛn kin kɛr go na os
- Friedreich’s ataxia (FA) na wan sik wae nɔr kin bɔrku, wae dɛn kin gɛt frɔm ɔda pipul dɛm wae kin afɛkt di nervɔs sistɛm.
- Di men sayn dɛm na wae yu nɔr kin ebul fɔ waka, yu nɔr kin ebul fɔ balans, ɛn yu kin gɛt prɔblɛm wit aw yu de muv fayn fayn wan. Dɛn tin ya kin bɔku as tɛm de go.
- Dɛn kin no di sik klia wan tru wan jenɛtik tɛst.
- Pan ɔl we no kɔmplit mɛrɛsin nɔr de fɔ dis, fizik tritmɛnt, tɔk, ɛn ɔda tritmɛnt kin ɛp fɔ kɔntrol di sayn dɛm ɛn liv gud layf.
- I rili impɔtant fɔ fɛn dɔktɔ ɛn tritmɛnt tim we yu trɔst ɛn gɛt ɛkspɛriɛns pan dis eria.
- Fɔ mek yu gɛt wɛlbɔdi na yu maynd impɔtant jɔs lɛk aw yu bɔdi gɛt wɛlbɔdi. Nɔ shek fɔ go to saykilɔjik ɛp if nid de.
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