I nɔ izi fɔ yu pikin fɔ waka? Lɛ wi lan bɔt Friedreich in Ataxia!

Yu pikin kin shek shek smɔl we i de waka ɔ rɔn? Yu dɔn ɛva fil se i nɔ izi fɔ mek yu balans? Ɔ i nɔmal fɔ mek yu fil bad bad wan ɛn wɔri we yu si dɛn kayn sayn ya pan smɔl pikin? Tide wi go tɔk bɔt wan rare bɔt rili impɔtant jenɛtik kɔndishɔn we yu fɔ no bɔt dɛn kayn tɛm ya. dis dεn kכl am Friedreich in ataxia, כ `(FA)` כ `(FRDA)` fכ sכt.

Wetin na Friedreich in Ataxia?

Fɔ tɔk am simpul wan, Friedreich in Ataxia na wan jɛnɛtik kɔndishɔn we kin pas frɔm wan jɛnɛreshɔn to jɛnɛreshɔn. Dis kin mek wi nervɔs sistɛm de pwɛl smɔl smɔl, ɛn dis kin mek wi gɛt prɔblɛm wit aw wi bɔdi de muv. Mɔ spesifik wan, di ebul fɔ kɔntrol wi mɔsul dɛn kin go dɔŋ. Dis na wetin wi kin kɔl ``Ataxia.'' Dis sik kin te fɔ wɔs as tɛm de go.

Bɔrku tɛm, dɛn sik ya kin bigin wae dɛn yɔŋ. Dat min se, we i smɔl. Bɔt dis nɔto jɔs sɔntin we de afɛkt di nervɔs sistɛm. I kin afɛkt bak ples dɛm lɛk yu skel sistɛm, at, ɛn pankrias. Bɔt di gud nyus na dat, i nɔ de afɛkt di we aw yu de tink, dat na di we aw yu de tink (Cognitive Functions).

Friedreich in ataxia na wan pan di kayn ataxia we dɛn kin gɛt we dɛn kin gɛt frɔm dɛn mama ɛn papa, bɔt bɔku tɛm i kin rili shɔt. Insay Amɛrika, i kin ambɔg lɛk wan pan ɛvri 50,000 pipul dɛn. Ɔlsay na di wɔl, i kin afɛkt lɛk wan pan ɛvri 40,000 pipul dɛn. Wan dɔktɔ we nem Nicholas Friedreich bin kam fɔ no bɔt dis sik fɔ di fɔstɛm ɛn tɔk bɔt am insay 1863. Na dat mek dɛn gi am in nem.

Na nɔmal tin fɔ mek yu fil fred we yu pikin bigin fɔ gɛt prɔblɛm fɔ waka ɔ i nɔ de balans igen. Yu kin de wɔnda, "Aw lɔng dis go kɔntinyu? Aw dis go afɛkt mi pikin in layf?" Di bɛst tin fɔ du na fɔ go to dɔktɔ we spɛshal pan dɛn sik ya. Da we de, yu kin gɛt ansa to yu kwɛstyɔn dɛn ɛn gɛt di sɔpɔt we yu nid pan dis joyn.

Difrɛn kayn Friedreich in ataxia (FA) de?

yes, di "typical" Friedreich in ataxia kin apin bifo i rich 25. כltu, tu כda atypical tכp dεm de. Dɛn wan ya de mek lɛk 15% pan ɔl di FA kes dɛm:

• Let-onset Friedreich’s ataxia (LOFA): Na dis kayn sik, di sayn dɛm kin apin afta i dɔn ol 25 ia.
• Friedreich’s ataxia (VLOFA) we kin bigin rili let: Na ya, di sayn dɛm kin bigin afta i dɔn ol 40 ia.

dis tu tכp dεm, `(LOFA)` εn `(VLOFA)`, kin sכmtεm siriכs pas di nכmal `(FA)`.

Wetin na di sayn dɛm fɔ dis sik?

Di sayn dɛm fɔ Friedreich’s ataxia kin bigin bitwin 5 ɛn 15. Bɔt sɔm pipul dɛn kin gɛt dis sik as ali as 2 ia ol, ɛn ɔda wan dɛn kin gɛt let as 50 ia.

Fɔs simptom dɛn we pɔsin kin si

di fכs nyurolכjik simptom dεm we de sho na difεlεns fכ tinap, waka, εn bεlε (dεn kכl am Gait Ataxia). As tɛm de go, dɛn sik ya kin wɔs smɔl smɔl, ɛn nyu sayn dɛn kin kam.

Di men simptom dɛm we gɛt fɔ du wit di nervɔs sistɛm fɔ `(FA)` na:

• Di mɔsul dɛn we wik.
• Lɔs pan balans ɛn kɔdineshɔn (Ataxia).
• di lכs fכ tכch sεns (dεn kכl dis `(Pεrifεral Nyuropati)`).
• Wik di rεflεks dεm (Hyporeflexia).

Yu kin si dɛn tin ya na ya:

• I nɔ kin izi fɔ tinap, waka, ɛn rɔn.
• Chorea na di shek we di an ɛn fut dɛn de shek ɛn shek we yu nɔ want.
• di lכs fכ fil we de stat na di leg dεm εn spre to di an dεm εn di bεlε.
• Fɔ taya ɔltɛm.
• We yu de tɔk, di wɔd dɛn kin slɔp ɛn di tɔk kin slo (Dysarthria).
• I nɔ izi fɔ swɛla it (Dysphagia).
• Spasticity na filin fɔ mek yu mɔsul dɛn stif.
• Lכs fכ sεns fכ in כwn bכdi posishכn (Lכs fכ `(Proprioception)`).
• We pɔsin nɔ de yɛri fayn.
• Vision Loss.
• Skɔliosis ɛn/ɔ fut difɔmiti. fכ egzampl, fut dεm we de tכn insay, ay arch dεm, εn sכt fut dεm (Pes Cavus).

Imajin, wan pikin de we ol 8 ia we nem Sadun. I bin de bi gud pɔsin we de rɔn ɛn we i bin de ple wit. Bɔt fɔ sɔm tɛm naw, i dɔn de stɔp we i de waka, lɛk se i nɔ ebul fɔ balans. Ivin we i de ple na skul, i kin fɔdɔm we i de rɔn wit in padi dɛn. Fɔs, in mama ɛn papa bin tink se na smɔl tin. Bɔt na we dɛn sho am to dɔktɔ nɔmɔ dɛn kam fɔ no bɔt dis `(FA)`.

Ɔda kɔmplikɛshɔn dɛn we kin apin bikɔs ɔf Friedreich in ataxia (FA) .

Na lɛk 75% pan di pipul dɛm wae gɛt FA kin gɛt hat sik. Di wan dɛn we bɔku pan dɛn tin ya na:

Di tin dɛn we kin apin to di at

• Kadyak Ɔtonomik Nyuropati.
• Hypertrophic kadyomayopati we pɔsin kin gɛt.
• Di at bit we nɔ de bit ɔltɛm (Aritmia).

pan tap dat, כda at komplikashכn dεm we kin apin bikoz fכ `(FA)` na:

• Mayokarditis we gɛt di sik.
• Ska we de na di at mɔsul (Myocardial Fibrosis).
• Di at we de mek di at big (Cardiomegaly).
• Kɔnjɛstiv At Failure.
• At bit kwik kwik wan (Tachycardia).
• Atrial fibrilɛshɔn.
• At Blɔk.

Risk fɔ gɛt dayabitis

FA kin pwɛl di sɛl dɛn na yu pankrias we de mek di ɔmon we dɛn kɔl insulin. Insulin impɔtant fɔ kɔntrol di glukɔs we de na di blɔd. So, we insulin nɔ de, di shuga we de na di blɔd kin go ɔp, ɛn dis kin mek di blɔd gɛt ay blɔd. Dis kin mek pɔsin gɛt dayabitis. Na lɛk 30% pan di pipul dɛm wae gɛt FA kin gɛt dayabitis.

Wetin na di rizin fɔ dis? Yu tink se na sɔntin we pɔsin kin gɛt frɔm in jɛnɛtiks?

Yɛs, Friedreich in ataxia na kɔmplit jenɛtik kɔndishɔn. i de kכz fכ chenj, כ mכtεshכn, insay wan jin we dεn kכl ``FXN''. dis jin de kכri di kכd fכ mek wan rili imכtant protin na wi bכdi, ``Frataxin'' .

Frataxin na wan protin we de wok na di maytochכndria.

Frataxin na wan protin we de insay di maytochondria , we na di pat dɛn we de mek wi sɛl dɛn gɛt ɛnaji. pan ɔl we sayɛnsman dɛn stil nɔ ɔndastand gud gud wan aw i de wok, dɛn dɔn si se frataxin impɔtant fɔ mek di maytochondria wok fayn fayn wan. di jin mכtεshכn we de mek frataxin (FA) de blכk di prodakshכn fכ di frataxin protin kכmplit wan.

we wi nכ gεt inof frataxin, sכm pan wi bכdi sεl dεm nכ kin prodyuz enεji fayn fayn wan. Dɔn bak, tin dɛn we gɛt pɔyzin kin bigin fɔ gɛda. Dɛn kɔl dis ɔksidativ strɛs . Dis kin pwɛl wi sɛl dɛn.

di sεl dεm we de na dεn lכkεshכn dεm ya dεn kin afekt dεm fכs fכ `(FA)`:

• Pɛriferal Nɛv dɛn.
• Spinal Kɔd.
• Di bren, mɔ di sɛribɛl.
• Di at mɔsul.

Dis na wan Ɔtosɔmal Risɛsiv Inhɛritɛns Pɔtn.

Friedreich in ataxia de apin nכmכ if yu gεt tu mכtayt kכpi dεm fכ di (FXN) jin, frכm yu mama εn papa. Dɔktɔ dɛn kɔl dis ɔtosɔmal rɛsɛsiv inhɛritɛns patɛn .

Di mama ɛn papa dɛn ɔl tu fɔ pɔsin we gɛt dis sik kin gɛt wan kɔpi fɔ di jin we dɔn chenj (dat na, dɛn kin gɛt am ). Bɔt bɔku tɛm dɛn nɔ kin sho sɔm sayn dɛn. Imajin, if mama ɛn papa dɛn ɔl tu na pɔsin we de kɛr pikin, we dɛn gɛt pikin:

• 25% chans de fכ di pikin go gεt `(FA)` (if di tu mutant jin dεm dεn inhεrit).
• 50% chans de fכ di pikin go bi kכriכg (if wan mutated jin dεn inhεrit).
• 25% chans de fכ mek di pikin gεt hεlth we i nכ gεt εni mutated jin dεm.

Aw yu kin no dis ɛksaktɔli? (Diagnosis) .

Fɔs, yu pikin in dɔktɔ go aks bɔt di sayn dɛm ɛn di famili mɛdikal histri. Dɔn dɛn go du wan kɔmplit ɛgzam fɔ dɛn bɔdi ɛn wan ɛgzam fɔ nyurolɔjik.

Neks, i go mɔs bi se di dɔktɔ go tɛl yu fɔ du sɔm difrɛn tɛst dɛn.Jεnεtik tεst na di men tεst we kin kכnfכm Friedreich in ataxia. Apat frɔm dat, dɛn kin du dɛn tɛst ya fɔ ɛp fɔ no di sik ɛn/ɔ fɔ chɛk fɔ di say dɛn na di bɔdi we (FA) kin afɛkt:

• MRI ɔ CT skan: Dɛn tin ya kin tek pikchɔ fɔ yu bren ɛn yu spɛnal kɔd. Dɛn tin ya kin ɛp yu dɔktɔ fɔ pul ɔda kayn nyurolɔjik sik dɛn.
• Ilɛktromayogram (EMG) ɛn Nɛv Kɔndɔkshɔn Stɔdi: Dɛn tɛst ya de chɛk aw yu mɔsul ɛn nerv dɛn de wok.
• Ilɛktrokardiogram (ECG/EKG): Dis kin mek yu si di ilɛktrik wok we yu at de du, dat na di we aw yu at de bit.
• Echocardiogram: Dis de gi pikchɔ dɛn bɔt aw yu at de muv.
• Blɔd tɛst: Dɛn kin du sɔm blɔd tɛst fɔ chɛk tin dɛn lɛk blɔd shuga lɛvɛl ɛn vaytamɛn E lɛvɛl.

Wetin na di tritmɛnt fɔ Friedreich in ataxia (FA)?

Dis na rili gud nyus! Insay 2023, di US Food and Drug Administration (FDA) bin gri fɔ mek dɛn yuz di fɔs mɛrɛsin fɔ Friedreich in ataxia. Dɛn kɔl am Omaveloxolone (SKYCLARYSTM) . Dɛn kin yuz am fɔ pipul dɛn we ol 16 ia ɔ pas dat. stכdi dεn sho se dis dכg kin impruv di nεv fכ wok εn di kכndishכn fכ ``Ataxia'' to sכm mak. Dɛn de du mɔ risach bɔt di tin dɛn we dis mɛrɛsin kin du fɔ lɔng tɛm.

Bɔt, Omaveloxolone nɔto mɛrɛsin fɔ FA. Apat frɔm dis mɛrɛsin, di men gol fɔ tritmɛnt na fɔ kɔntrol di simptom ɛn kɔmplikeshɔn dɛm fɔ FA ɛn ɛp yu fɔ liv fayn fayn wan. Dɛn kayn tritmɛnt ya kin bi:

• Fizik Tɛrapi: Mek di mɔsul dɛn kɔntinyu fɔ wok fɔ lɔng tɛm, mek yu ebul fɔ wok togɛda, balans, ɛn trɛnk.
• Spich Therapy: Mek yu ebul fɔ tɔk ɛn swɛla fayn bay we yu de tren di mɔsul dɛn na yu tɔŋ ɛn yu fes bak.
• Brays ɔ ɔpreshɔn fɔ prɔblɛm dɛn we gɛt fɔ du wit bon dɛn lɛk fut we nɔ fayn ɛn we gɛt skɔliosis.
• If yu gɛt at sik, tek mɛrɛsin fɔ am.
• If yu gɛt dayabitis, tek mɛrɛsin fɔ am.
• Tritmɛnt dɛn fɔ mɛn di pen.
• Antibayɔtik fɔ mek yu nɔ gɛt ɔ trit infɛkshɔn.
• Divays dɛn we de ɛp fɔ waka, fɔ ɛgzampul spɛshal sus, ken, wilchia.
• Hat transplant na tritmɛnt fɔ mild FA, bɔt if signifyant kadiomayopathy de.

Fɔ mek yu ebul fɔ manej FA, bɔku tɛm yu go nid di ɛp frɔm wan tim we gɛt bɔku bɔku dɔktɔ dɛn. Dis tim kin gɛt:

• Di wan dɛn we de stɔdi bɔt nyurolɔji.
• Di wan dɛn we de mɛn di at.
• Mɛdikal ɛn Bayokɛmikal Jɛnɛtiks.
• Ɛndokrinɔlɔjis na dɔktɔ dɛn we spɛshal pan di ɛndokrin sistɛm.
• Di wan dɛn we de mɛn pipul dɛn we gɛt bɔdi.
• Di wan dɛn we de stɔdi bɔt aw pɔsin kin tɔk ɛn langwej.
• Ɔkupeshɔn tɛrapist dɛn.
• Ɔtpidik ɔspitul dɔktɔ dɛn.
• Sayɛnsman dɛn we de stɔdi bɔt pɔsin in maynd.

Friedreich in ataxia kin afɛkt ɔlman difrɛn we ɛn i kin go bifo pan difrɛn rit. Yu pikin in mɛdikal tim go mek wan tritmɛnt plan we go fayn fɔ yu pikin in sik ɛn dɛn kin ajɔst am as dɛn de gro.

Yu tink se we de fɔ mek dis nɔ apin?

Bikɔs Friedreich in ataxia na bikɔs ɔf wan chenj na in jɛnɛtiks, natin nɔ de we yu go du fɔ mek i nɔ apin. Bɔt if yu de plan fɔ bɔn pikin, yu kin tɔk to yu dɔktɔ ɔ pɔsin we de advays yu bɔt yu jɛnɛtiks bɔt aw fɔ tɛst yu fɔ no bɔt di prɔblɛm we yu gɛt fɔ bɔn pikin we gɛt jɛnɛtik sik lɛk Friedreich’s ataxia.

Wetin na di prɔgnosis fɔ pɔrsin wae gɛt Friedreich’s ataxia (FA)?

Di impɔtant tin fɔ mɛmba na dat nɔto ɔlman we gɛt Friedreich in ataxia kin afɛkt di sem we. Nɔbɔdi nɔ go ebul fɔ tɛl yu ustɛm yu go bi. Di bɛst tin we yu kin du fɔ rɛdi fɔ tumara bambay na fɔ tɔk to spɛshal pipul dɛn we de du risach ɛn trit Friedreich in ataxia.

Bɔt layf span

Bikɔs Friedreich in ataxia na wan kɔndishɔn we de wɔs as tɛm de go, di layf we pipul dɛn we gɛt `(FA)` kin liv kin shɔt smɔl pas di wan we di jenɛral pipul dɛn kin liv. Di big tin we kin mek pipul dɛn we gɛt `(FA)` day na wan sik we dɛn kɔl `Hypertrophic Cardiomyopathy`.

Bɔt FA nɔ de afɛkt ɔlman di sem we. Bɔrku pipul dɛm wae gɛt FA kin liv at least insay dɛn 30s. Sɔm kin liv te dɛn ol 60 ia ɔ ivin pas dat.

Ustɛm yu fɔ go to dɔktɔ?

If yu ɔ yu pikin gɛt Friedreich’s ataxia, yu fɔ go to yu mɛdikal tim ɔltɛm fɔ gɛt tritmɛnt ɛn fɔ wach di sayn dɛm.

Na nɔmal tin fɔ fil bad we yu kam fɔ no se yu pikin gɛt Friedreich’s Ataxia (FA). Bɔt yu mɛdikal tim go mek wan tritmɛnt plan we go mek yu pikin gɛt di sik. De tin wae impɔtant pas ɔl na fɔ gi yu pikin di lɔv ɛn sɔpɔt wae i nid ɔl in layf, ɛn fɔ no bɔt ɛni nyu sayn wae kin kam. Nɔ fɔgɛt fɔ tek kia ɔf yusɛf bak. If nid de, jɔyn sɔpɔt grup, ɔ aks fɔ ɛp frɔm pɔsin we de advays yu if yu de fil se yu at pwɛl.

Mɛmba as sɔmari (Tek-Home Message) .

Friedreich in Ataxia (FA) na wan rεr, inhεrit jεnεtik dizכrd we de fכs fכ afekt di nεv sεstem, we de mek prכblεm fכ muvmεnt (especially ataxia - lכs fכ bεlε).

• di kכz: wan mכtayshכn na di jin we dεn kכl ``(FXN)`` de rεsult in di dכn pan di ``Frataxin`` protin.
• Karakta:I nɔ kin izi fɔ waka, i nɔ kin balans, di mɔsul dɛn kin wik, i nɔ kin izi fɔ tɔk, at sik, ɛn dayabitis kin apin.
• Diagnosis: Na bay we dɛn de tɛst di jenɛtiks mɔ.
• Tritmɛnt: Manejmɛnt fɔ di simptomatik, fizik tritmɛnt, tɔk tɛrapi, ɛn di nyu drɔg we dɛn dɔn gri fɔ we dɛn kɔl Omaveloxolone.
• Impɔtant: I impɔtant fɔ no di sik kwik kwik wan, aks fɔ sɔpɔt frɔm spɛshal mɛdikal tim, ɛn fɔ gɛt di lɔv ɛn sɔpɔt frɔm di famili. I impɔtant fɔ mek yu nɔ fred, bɔt yu fɔ du sɔntin bay di kɔrɛkt infɔmeshɔn ɛn advays we dɔktɔ gi yu.

` Friedreich in Ataxia, FA, jεnεtik sik dεm, nεv sεstem, muvmεnt dizכrd, ataxia