Yu pikin gɛt dɛn sik ya? Wi fɔ no bɔt Kearns-Sayre Syndrome?

Sɔntɛnde, yu pikin kin sho strenj tin dɛn we yu nɔ ebul fɔ ɔndastand? Sɔntɛm yu dɔn notis sɔntin lɛk we yu nɔ de si fayn, we yu de waka smɔl, ɔ we yu de fil se yu bɔdi wik? Dɔn dis na sɔntin we go rili impɔtant to yu. Sɔmtɛm dɛn tin ya kin bi sayn fɔ wan sik wae nɔr kin bɔrku, bɔt wae fayn fɔ no bɔt. Tide wi go tɔk bɔt wan pan dɛn kayn sik ya, we dɛn kɔl Kearns-Sayre Syndrome.

Wetin na di sik we dɛn kɔl Kearns-Sayre Syndrome?

Fɔ tɔk am simpul wan, Kearns-Sayre Syndrome na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt di nervɔs sistɛm ɛn di mɔsul dɛm. Dɛn kin kɔl am bak ``KSS'' fɔ shɔt. I kin afɛkt di yay mɔ. I kin afɛkt bak di at, mɔsul dɛm, ɛn di bren wok dɛm lɛk fɔ tink ɛn mɛmba. Bɔrku tɛm, dɛn sik ya kin bigin fɔ sho bifo i ol 20 ia .

dis na ` (mitochondrial disorder),` we min se dis kכndyushכn de kכz fכ prכblεm wit di sכm sכm pat dεm we dεn kכl mitochondria insay wi sεl dεm. I sɔri fɔ no se, no kɔmplit mɛrɛsin nɔ de yet fɔ dis. Bɔt if yu no di sik kwik kwik wan ɛn trit yu fayn, dat kin ɛp fɔ kɔntrol di sik dɛn ɛn mek yu gɛt gud kwaliti layf. Tu dɔktɔ dɛn we nem Tɔmɔs P. Kearns ɛn Jɔj Pomeroy Sayer bin kam fɔ no bɔt dis sik fɔ di fɔstɛm insay 1958. Na dat mek i gɛt dis nem. Na wan sik we de go bifo ɛn i kin wɔs smɔl smɔl as tɛm de go.

Lɛ wi lan smɔl bɔt maytochondria, we de gi wi bɔdi ɛnaji.

Naw yu kin de wɔnda wetin na dɛn maytochondria ya ɛn wetin mek dɛn impɔtant so. Tink bɔt am, di maytochondria dɛn tan lɛk smɔl smɔl ɛnaji faktri dɛn na ɛvri sɛl na wi bɔdi (eksept di rɛd blɔd sɛl dɛn). lεk petrol we de insay motoka, 90% pan di enεji we wi bכdi nid fכ wok de mek insay dεn maytochכndria dεm ya. Dɛn smɔl smɔl faktri dɛn ya kin tek di tin dɛn we de insay di it we wi de it, yuz di ɔksijɛn, ɛn chenj dɛn to ɛnaji we wi sɛl dɛn kin yuz.

So, imajin wetin go apin if dεn maytochכndria dεm ya nכ de wok fayn, כ if dεn dכn pwεl? Dɔn wi bɔdi nɔ kin gɛt di ɛnaji we i nid. dis kin mek difrεn sistεm dεm na di bכdi, dat na di sεl dεm, tisu dεm, εn כgan dεm, nכ de wok fayn. Maytochondrial sik kin tranga smɔl fɔ no ɛn trit, bikɔs dɛn kin afɛkt bɔku pat na di bɔdi, nɔto jɔs wan. Pan ɔl we di sayn dɛm fɔ dɛn sik ya kin difrɛn frɔm wan pɔsin to ɔda pɔsin, bɔku tɛm dɛn kin wɔs as tɛm de go. Na di mɔsul ɛn di nɛv sɛl dɛn we nid bɔku ɛnaji, na dɛn kin pwɛl pas ɔl.

Wetin kin bi di sayn dɛm fɔ dis sik?

Di sayn dɛm fɔ Kearns-Sayer syndrome (KSS) kin bigin bifo i ol 20 ia , fɔs i kin afɛkt ɔl tu di yay dɛm. As tɛm de go, sɔntɛnde dis kin mek pɔsin blaynd.

Di fɔs sayn dɛm wae kin afɛkt di yay:

• Yu nɔ de si fayn: I nɔ de si bɛtɛ, mɔ na say dɛn we dak, lɛk na nɛt. Dis kin bi bikɔs di retina na di yay dɔn pwɛl. pan mεdikal, dεn kכl dis `(pigmentary retinopathy)`.
• Di aylid dɛn we de drɔp: Di aylid dɛn we de ɔp na wan ɔ ɔl tu di yay dɛn de drɔp we dɛn nɔ ebul fɔ kɔntrol. Dɛn kɔl dis `(ptosis)`.
• We di yay mɔsul dɛn wik ɔ nɔ de wok fayn: Di mɔsul dɛn we dɛn kin yuz fɔ muv di yay kin wik smɔl smɔl. dis dεn kכl am ``krכnik prכgrεsiv εksternal כftalmoplejia (CPEO)``. Sɔntɛnde dis kin mek i nɔ pɔsibul fɔ tɔn ɔl tu di yay dɛn na di sem say.

Ɔda sayn dɛm apat frɔm di yay:

Dis sik nɔ kin jɔs de na di yay. I kin afɛkt bɔku ɔda pat dɛn na di bɔdi.

• Yu nɔ de yɛri fayn (Deafness): Smɔl smɔl yu nɔ de yɛri igen, ɛn yu kin ivin def ɔl.
• Wae yu nɔr de mɛmba fayn ɔr yu nɔr de mɛmba fayn fayn wan (dimɛnshɔn): E kin tranga fɔ tink, ɔndastand, ɛn lan. Sɔntɛnde, di mɛmori lɔs kin apin bak smɔl smɔl.
• At sik: di at kin apin bikɔs di at in ilɛktrik signal dɛn kin blok. Dis kin rili denja.
• Hɔmɔn imbalans (endocrine abnormalities): Fɔ ɛgzampul, dayabitis kin apin. Ɔda prɔblɛm dɛn bak we gɛt fɔ du wit ɔmon kin kam.
• di protin we de inkrεs na di sεribrospεnal fכluid (CSF): dεn kin no dis bay we dεn du spεnal tap.
• Prɔblɛm dɛn na di kidni.
• Prɔblɛm fɔ waka ɛn balans (ataxia): I nɔ kin balans, i kin stɔp we i de waka, ɛn i nɔ kin ebul fɔ wok togɛda.
• Seizures: Dis nɔ kin apin so ɔltɛm.
• Short stature: Nɔ de gro lɔng pas aw i fɔ gro.
• Wiknɛs na di an ɛn leg: Di limb dɛn kin fil se dɛn nɔ gɛt layf, ɛn di mɔsul dɛn kin wik.

Imajin se yu pikin bin de ple ple, i bin de rɔn rawnd ɛn ple. Bɔt dis biɛn tɛm, i se i nɔ kin si fayn na nɛt, i kin gɛt prɔblɛm fɔ pe atɛnshɔn pan skul wok, ɛn i nɔ kin fil strɔng lɛk aw i bin de fil we i de waka. If dis apin, di tin we impɔtant pas ɔl na fɔ go to dɔktɔ ɛn nɔ fɔ pe atɛnshɔn to am.

Wetin mek dis kayn tin we nɔ kin apin so ɔltɛm kin apin?

Kearns-Sayer syndrome (KSS) de kכz fכ wan jεnεtik mכtεshכn na di DNA insay di maytochכndria, כ maytochכndrial DNA (mtDNA) . dis mtDNA na di pat pan di sεl we de kכri di jin dεm we nid fכ di hεlty fכnshכn fכ di maytochכndria. Bɔt di wan dɛn we de stɔdi bɔt dis stil nɔ shɔ wetin mek dis chenj na di jɛnɛtiks kin apin.

Di tin we impɔtant pas ɔl na dat, dis nɔto mama ɔ papa in fɔlt.bכku tεm, dεn jεnεtik chenj dεm ya kin apin we di pikin stil de divεlכp na di bεlε. Sɔmtɛm, dɛn kin pas frɔm mama to pikin (maternal inheritance), bɔt di kɔndishɔn kin apin bak we yu nɔ gɛt famili histri. di jεnεtik tεst kin εp fכ no if di jεnεtik mכtεshכn na inhεrit כ na random tin we apin.

Aw yu kin no dis ɛksaktɔli?

Fɔ tru, di sik we dɛn kɔl Kearns-Sayer Syndrome (KSS) kin tranga smɔl fɔ no bikɔs i kin afɛkt bɔku bɔku bɔdi sistɛm dɛn. Yu kin notis sɔm kayn sayn dɛm wae nɔr kin kɔmɔn pan yusɛf ɔr yu pikin. Ɔ dɔktɔ kin notis dɛn sayn ya we dɛn de chɛk am ɔltɛm. Bɔt if yu notis ɛni wan pan dɛn sayn ya, i go fayn fɔ mek yu go to dɔktɔ wantɛm wantɛm.

Dɔktɔ dɛn kin du dɛn tin ya fɔ no dis ``(KSS)`` kɔndishɔn:

• Wi go tek tɛm lisin to yu mɛdikal istri ɛn di sayn dɛm we yu gɛt.
• Dɛn kin du wan kɔmplit ɛgzam fɔ di bɔdi.
• Ɔda tɛst dɛn: Dɛn kin du urine tɛst, ay tɛst, yɛri tɛst, blɔd tɛst, ɛn sɔntɛm dɛn kin du spɛshal tap/lɔmba pankchɔ.
• Jɛnɛtik advays ɛn jenɛtik tɛst: Dɛn kin du dis wit blɔd sɛmpul.

Apat frɔm dat, yu dɔktɔ kin tek wan smɔl pat pan yu mɔsul tisu ɛn chɛk am (mɔsul bayɔpsi) . dis go luk fכ sכmtin we dεn kכl "ragged-red fibers." if dεn tin ya de, i min se di mכsul sεl dεm nכ nכmal bikoz fכ wan maytochכndrial sik.

Dɛn kin du imej tɛst dɛn lɛk dis bak fɔ mek dɛn nɔ gɛt ɔda tin dɛn we de apin:

• `CT skan`
• Ilɛktroɛnsɛfalogram (EEG) (na tɛst we de sho aw di bren de wok wit ilɛktrik) .
• Ilɛktrorɛtinogram (ERG) (na tɛst we de sho aw di retina de wok) .
• `MRI` ɔ `spɛktroskɔpi (MRS)`

Fɔ no dis sik kwik kwik wan rili impɔtant fɔ mek dɛn ebul fɔ trit am fayn. Na if yu no di sik kɔrɛkt wan nɔmɔ yu ɛn yu pikin go gɛt di rayt tritmɛnt.

Yu tink se tritmɛnt de fɔ dis? Aw dɛn de manej am?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ mɛn di sik we dɛn kɔl Kearns-Sayer Syndrome (KSS). Bɔt nɔ wɔri. If yu no di sik kwik kwik wan ɛn kia fɔ yu fɔ sɔpɔt yu, dat kin ɛp fɔ ridyus di risk fɔ gɛt prɔblɛm dɛn. Yu dɔktɔ kin tɛl yu bɔt tritmɛnt dɛn we go ɛp yu ɛn yu pikin fɔ kɔntrol di sik dɛn we dɛn kin gɛt ɛn fɔ mek dɛn liv bɛtɛ layf.

Ɛp frɔm wan tim we gɛt spɛshal dɔktɔ dɛn

Bikɔs dis sik kin afɛkt bɔku pat dɛn na di bɔdi, i nid fɔ gɛt sɔpɔt frɔm wan tim we gɛt dɔktɔ dɛn we sabi difrɛn tin dɛn. Yu tritmɛnt tim kin gɛt:

• Wan dɔktɔ we de mɛn pipul dɛn we gɛt yay
• Spɛshal pɔsin we de yɛri `(ɔdiɔlɔjis)`
• Wan dɔktɔ we de mɛn di at
• Ɛndokrinɔlɔjis
• Wan man we de stɔdi bɔt di jɛnɛtiks
• Nyurolɔjis
• Ɔkupeshɔn tɛrapist ɔ fizik thɛrapist
• Mental hεlth spεshal (e.g. `nyurosaykayatrist`)

Wetin na di tritmɛnt dɛn?

Di men gol fɔ tritmɛnt na fɔ kɔntrol di sik dɛn ɛn ridyus di prɔblɛm dɛn we kin apin as di sik de wɔs smɔl smɔl.

• Fizik tritmɛnt ɛn ɔkupeshɔn tɛrapi: Dɛn tin ya kin ɛp fɔ mek yu gɛt kɔdineshɔn, trɛnk, ɛn balans. Dɛn kin ɛp yu bak fɔ du di wok dɛn we yu kin du ɛvride fɔ yusɛf.
• Mɛrɛsin: Yu dɔktɔ kin gi yu mɛrɛsin fɔ hat sik, ɔmon prɔblɛm, ɔr maynd prɔblɛm (e.g., pwɛl hat).

Apat frɔm dat, di dɔktɔ kin tɛl yu fɔ du tin dɛn lɛk:

• Ɛp fɔ yɛri ɔ kɔklia implant (if sɔm pipul dɛn nid am) .
• Wan aylid sling ɔ aylid ɔpreshɔn (blepharoplasty) kin ɛp fɔ mek di yay opin we di aylid dɛn drɔp.
• fכlik asid supliment if di folate lεvεl na di sεribrospεnal fכluid (CSF) lכw.
• Ɔmon riplesmɛnt tɛrapi fɔ ɔmon dɛfisiɛns.
• Insulin ɔ ɔda mɛrɛsin fɔ dayabitis.
• implant peshכn mεka if abnכmal tin dεm de we de mek yu layf de pan denja na di at in ilektrikal signal dεm.

Fɔ wach di mɛrɛsin ɔltɛm impɔtant fɔ pɔsin we gɛt (KSS) bikɔs as tɛm de go, as di difrɛn ɔgan sistɛm dɛn na di bɔdi nɔ de wok, nyu sayn dɛn kin kam. Tɔk to yu dɔktɔ ɔltɛm bɔt di tin dɛn we yu go ebul fɔ du we go ɛp yu fɔ gɛt wɛlbɔdi as yu ebul, fɔ lɔng tɛm.

Aw layf de wit dis sityueshɔn? Wetin go apin tumara bambay?

De luk fɔ pɔrsin wae gɛt Kearns-Sayer syndrome (KSS) kin dipen pan aw dɛn sik kin tranga. Bɔt bɔku pipul dɛn kin liv wit dis sik fɔ lɔng lɔng tɛm. Di tritmɛnt dɛn we go ɛp yu ɛn yu pikin fɔ liv lɔng ɛn gɛt wɛlbɔdi. Nɔ giv ɔp fɔ op.

Fɔ dɔn, di tin dɛn we impɔtant pas ɔl we wi fɔ mɛmba

Okay, so frɔm wetin wi dɔn tɔk bɔt, a op se yu dɔn gɛt sɔm insayt pan Kearns-Sayre Syndrome. Na sɔm kayn kɔmpleks, rare kɔndishɔn. Bɔt mɛmba se:

• Fɔ no am kwik kwik wan rili impɔtant. If yu gɛt sɔm kayn sik wae nɔr kin izi fɔ yu, mɔr lɛk wae yu kin bigin wae yu yɔŋ, lɛk wae yu yay, yu at, ɔ yu mɔsul dɛn wik, nɔr de te fɔ go to dɔktɔ.
• Dis na tin we pɔsin kin gɛt frɔm in bɔdi, nɔto ɛnibɔdi in fɔlt. So nɔ blem yusɛf.
• Pan ɔl we no kɔmplit mɛrɛsin nɔ de fɔ dis, bɔku tritmɛnt dɛn de we go ebul fɔ kɔntrol di sayn dɛn ɛn mek yu layf bɛtɛ .
• Wok wit wan tim we gɛt spɛshal dɔktɔ dɛn fɔ mek wan patikyula tritmɛnt plan. Ɔltɛm fala wetin yu dɔktɔ tɛl yu fɔ du.
• Pan ɔl we dis na tin we nɔ izi fɔ du, nɔto yu wangren de. Wit sɔpɔt ɛn di rayt infɔmeshɔn, yu kin go tru dis.

If yu ɔ pɔsin we yu sabi gɛt dis prɔblɛm, a op se dis infɔmeshɔn go ɛp dɛnsɛf. Stay informed, stay helti!

` Kearns-Sayre Syndrome, mitochondria, jεnεtik mכtεshכn, yay sik, at sik, mכsul wik, nyurolכjik sik