Yu pikin gɛt dɛn sik ya? Lɛ wi tɔk bɔt Leigh Syndrome!

I kin rili fayn fɔ si pikin we dɛn jɔs bɔn, nɔto so? Bɔt sɔntɛnde, ivin if i tan lɛk se dɛn gɛt wɛlbɔdi fɔs, dɛn kin bigin fɔ sho strenj sayn dɛn afta sɔm mɔnt. If dɛn gɛt prɔblɛm fɔ gi dɛn mama in bɛlɛ, dɛn kray bɔku, ɔ dɛn gɛt sik we de mek dɛn sik, dɛn tin ya kin bi sayn fɔ wan sik we nɔ kin apin so ɔltɛm we dɛn kɔl Leigh Syndrome. Dis kin rili mek yu at pwɛl, bɔt i impɔtant fɔ no bɔt am.

Wetin na di sik we dɛn kɔl Leigh Syndrome? Fɔ tɔk am simpul wan...

Leigh Syndrome, wae dɛn kin kɔl bak Leigh’s Disease, na wan sik wae nɔr kin bɔrku pan jɛnɛtiks. I kin afɛkt yu pikin in sɛntral nervɔs sistɛm mɔ. Dat min se, di bren, di spaynal kɔd, ɛn di nerv dɛn. Imajin, pikin we gɛt dis sik kin tan lɛk se i gɛt wɛlbɔdi bɔku tɛm we dɛn bɔn am. Bɔt as tɛm de go, di sɛl dɛn we de na in nervɔs sistɛm kin wik ɔ ivin day.

dis sayn dεm kin bigin we di pikin ol lεk 3 mכnt, כ bifo i rich 2. di fכs tin dεm we yu go notis na dεn kin at fכ sכk, fכ nכ gri fכ it, kray fכ no rizin, εn fכ sכk.

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ ɔltɛm fɔ mɛn di sik we dɛn kɔl Lee syndrome. Na wan sik we de mek pɔsin in layf de pan denja. Bɔrku pikin dɛm wae gɛt dis sik kin day bifo dɛn ol 3. Bɔt nɔr kin bɔrku, dis sik kin kam pan yɔŋ pipul dɛm ɔr big pipul dɛm.

Wetin na di Maytochondrial Diziz dɛm? Di enaji faktri dɛm na wi bɔdi!

Fɔ ɔndastand dis, wi fɔs nid fɔ no smɔl bɔt di maytochondria . Fɔ tɔk am simpul wan, di maytochondria tan lɛk smɔl smɔl ɛnaji faktri dɛn we de insay di sɛl dɛn na wi bɔdi. dis na di wan dεm we de mek enεji frכm di fεt asid εn glukכs we de insay di it we wi de it εn kכnvכlt am to wan tin we dεn kכl adenosine triphosphate (ATP) . dis ATP na in de gi wi sεl dεm di enεji fכ wok.

di maytochכndria dεm de insay εvri sεl pas wi rεd bכdi sεl dεm. di sik dεm we de apin na di maytochכndria na di kכndishכn dεm we de apin we dεn maytochכndria dεm ya nכ de wok fayn fayn wan. Di sɛl dɛn nɔ kin gɛt di ɛnaji we dɛn nid, we kin mek di sɛl dɛn pwɛl ɔ day.

Wi nervɔs sistɛm nid bɔku ɛnaji fɔ mek i ebul fɔ wok. Insay Li sindrom, di sɛl dɛn we de na di pikin in nervɔs sistɛm, mɔ di sɛl dɛn we de gi ɛnaji to di bren, di nerv dɛn, ɛn di spaynal kɔd, kin pwɛl ɔ pwɛl.

Ɔda nem dɛn de fɔ di sik we dɛn kɔl Leigh Syndrome?

Yɛs, na wan British dɔktɔ we nem Archibald Denis Leigh bin gi dis sik di nem fɔs, ɛn i bin tɔk bɔt am insay 1951. I bin kɔl am Subacute Necrotizing Encephalomyelopathy (SNE) .Encephalomyelopathy na wan sik we de afɛkt di bren ɛn di spaynal kɔd. Bɔt bɔku dɔktɔ dɛn tide kɔl am Li sindrom ɔ Li sik.

Wetin na de men kayn sik wae de mɛk pɔrsin gɛt Lig Sindrom?

Bɔrku men kayn Li sindrom de:

• Infantile Leigh Syndrome: Dis na di kayn we we dɛn kin gɛt mɔ. Di simptom dεm de sho bifo di pikin ol 2 ia. Dɛn kin kɔl dis bak Klasik Li Sindrom. I kin afɛkt man ɛn uman ikwal.
• Adult-onset Lee syndrome: De sik kin kam afta yu dɔn ol 2 ia, sɔmtɛm wae yu dɔn yɔŋ ɔr yu dɔn big. Dis nɔ kin apin so ɔltɛm. Dis kayn kin afɛkt man dɛn mɔ. Dɔn bak, di sik kin go bifo smɔl smɔl pas di kayn we aw i kin bigin kwik kwik wan.
• Leigh-like syndrome: Insay dis kayn tin, pɔrsin kin sho sɔm pan de sayn dɛm fɔ Leigh syndrome, bɔt imej skan nɔr kin sho sayn dɛm fɔ di sik na in bren.

Aw dis sik kin bɔku?

Dɛn se di klasical (early) Lee syndrome kin apin to lɛk wan pan ɛvri 40,000 nyu bɔbɔ dɛm ɔlsay na di wɔl. Bɔt i kin apin mɔ na sɔm say dɛn. Fɔ ɛgzampul:

• Wan pan ɛvri 2,000 pikin dɛn we dɛn jɔs bɔn na di Lac-Saint-Jean rijin na Kwibɛk, insay Kanada.
• Wan pan ɛvri 1,700 pikin dɛn we dɛn jɔs bɔn na di Faro Ayland dɛn, we de bitwin Ayland ɛn Skɔtland.

Dɛn nɔ dɔn fɛn di rayt rizin fɔ dis.

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Leigh Syndrome?

Masta sabi bukman dɛn dɔn kam fɔ no se Li sindrom kin kam bikɔs ɔf di chenj dɛn we de apin na pas 75 jin dɛn . dis mכtεshכn dεm de afekt wi bכdi in ebul fכ prodyuz ATP (εnεji).

Eit pan 10 pikin dɛm wae gɛt Li sindrom kin gɛt dis sik tu men we dɛm:

1. כtosomal rεsεsiv dizכrd: insay dis, di pikin de gεt di sem jin mכtεshכn frכm in mama εn papa tu. Di mama ɛn papa nɔmɔ de kɛr dis muteshon ɛn dɛn nɔ gɛt di sik.

2. X-linked rεsεsiv jεnεtik dizכrd: Dis kin kכz fכ wan mכtεshכn na di X kromozom. I kin kɔmɔt frɔm di mama ɔ di papa. if mama gεt dis mכtεshכn pan wan pan in X kromozom dεm, 1 pan 4 chans de fכ mek in pikin כ in gyal pikin gεt di mכtεshכn. If bɔbɔ gɛt dis muteshon, i go gɛt Lee syndrome; gyal pikin nɔ go du am. Bɔt di gyal pikin kin pas di jin we nɔ fayn to in pikin dɛn we i go gɛt tumara bambay. Papa kin pas wan X kromozom we dɔn chenj to in gyal pikin, bɔt nɔto to in bɔy pikin.

Aw di chenj dεm we de apin na di maytochכndrial DNA de mek Li sεndrכm?

Na lɛk 2 pan ɛvri 10 pikin dɛn gɛt maytokɔndrial DNA (mtDNA) .wan mכtεshכn na di jin de kכmכt frכm di mama. dis mכtεshכn kin pas dכn to man εn uman. Dɔn i kin afɛkt ɔl di jɛnɛreshɔn dɛn na wan famili. rεli, wan spontan mtDNA mכtεshכn kin apin. di mכst kכmכn mtDNA mכtεshכn we dεn si insay Leigh sεndrכm na di wan we de mek di `MT-ATP6` jin nכ de prodyuz `ATP`.

Wetin na di sayn dɛm wae de sho se yu gɛt Lia Sindrom?

Di sayn dɛm fɔ di Li sindrom kin apin insay di fɔs tu ia we di pikin dɔn liv. Fɔs, yu pikin kin rich di nɔmal divɛlɔpmɛnt maylston dɛm, lɛk fɔ ol in ed ɔp stret. Dɔn, dɛn kin go bak smɔl smɔl, we min se dɛn nɔ kin ebul fɔ du dɛn tin ya ɔ dɛn kin sho se dɛn kin delay pan dɛn bɔdi ɔ di divɛlɔpmɛnt.

Di fɔs sayn dɛm fɔ Li sindrom na:

• I nɔ izi fɔ swɛla ( dysphagia ), prɔblɛm wit fɔ sok ɔ fɔ it fayn.
• Dayarɛa ɛn vɔmit.
• Lak fɔ di mɔsul dɛn ( hypotonia ).
• Nɔ rɛst ɔltɛm ɛn kray ɔltɛm.
• Wiknɛs dɛn we de na di ed kɔntrol ɛn di riflɛs.

As di sik de go bifo, ɔda sayn dɛn kin sho. Dɛn kin si dɛn sayn ya bak na di leta stej dɛm fɔ di Li sindrom. Dɛn tin ya na:

• Wan sik lɛk dis maynia sik .
• Prɔblɛm fɔ muv ɛn balans, fɔ ɛgzampul ataxia (fɔ stɔp we yu de waka, fɔ lɛ yu nɔ balans).
• I nɔ kin izi fɔ kɔl wɔd dɛn kɔrɛkt wan ( dysarthria ).
• di mכsul dεm we nכ de kכntrakt ( dystonia ).
• Di mɔsul dɛn de twitch ɔ stiff ( spasticity ).
• Pat pan am we pɔsin kin paralayz.
• di nεv dεm we de wik na di limb dεm ( pεrifεral nyuropathy ).
• Kɔnvulshɔn we pɔsin kin gɛt.
• Di slo we di bɔdi de gro sloslo.

Aw di sik we dɛn kɔl Leigh Syndrome kin afɛkt di we aw pɔsin de si?

Li sindrom kin afɛkt di nεv dεm na di yay bak, we kin mek i gɛt prɔblɛm lεk:

• Ay dɛn we krɔs ( strabismus ).
• Optik atrofi ( optik nεv atrofi ).
• Wik ɔ paralayz na di yay.
• I de muv kwik kwik wan we yu nɔ want ( nystagmus ).
• I nɔ de si fayn igen.

leta, yכng pipul dεm כ big pipul dεm we gεt Li sεndrכm kin gεt kכla blaynd εn dεn kin lכs sεntri vishכn ( lכw vishכn ).

Wetin na di prɔblɛm dɛn we kin kam wit di sik we dɛn kɔl Leigh Syndrome?

Laktik asid na wan kכndyushכn we laktik asid de bכku na di pikin in bכdi bikoz fכ di Li sεndrכm.Dis kin apin. wi bכdi de prodyuz laktik asid we di כksijεn lεvεl dεm na di sεl dεm de tu lכw fכ sכpכt dεn mεtabolism (we de kכnvכlt di kכbaidret dεm to enεji). Dɔn bak, di kabon dayɔgzayd we de na dɛn blɔd kin bɔku.

Laktik asidכsis εn di inkrεs pan di kabכn dayכksayd lεvεl kin mek dεn tin ya:

• I nɔ kin izi fɔ blo: i kin shɔt fɔ blo ( dyspnea ), i kin stɔp fɔ blo fɔ sɔm tɛm ( apnea ), ɛn i nɔ kin blo fayn ɔ i kin blo kwik kwik wan ( hyperventilation ).
• At sik: di at mכsul de tik ( hypertrophic cardiomyopathy ).
• Prɔblɛm dɛn na di kidni.

Aw dɛn kin no se pɔsin gɛt di sik we dɛn kɔl Leigh Syndrome?

Yu dɔktɔ kin ɔda fɔ du tɛst dɛn lɛk dɛn wan ya:

• Blɔd tɛst: Chɛk fɔ ɛnzaym mak dɛn we de sho se laktik asid ɛn Li sindrom.
• imej tεst dεm lεk MRI (Magnetic Resonance Imaging) skan: Chεk fכ damej pan di bren tisu (lεshכn dεm).
• Jɛnɛtik tɛst: Fɔ no ustɛm di jɛnɛtik chenj we de mek pɔsin gɛt di sik.

Aw dɛn kin trit di sik we dɛn kɔl Leigh Syndrome?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ ɔltɛm fɔ mɛn di sik we dɛn kɔl Lee syndrome. Di tritmɛnt kin mɔ fɔ kɔntrol di sik dɛn ɛn fɔ gi di pikin kɔmfɔt. Dis na sik we de kil pɔsin.

Yu pikin kin gɛt sɔm kayn fridɔm frɔm tin dɛn lɛk:

• Trit laktik asid wit sitrik asid (sɔdiɔm saytrɛt) ɔ sɔdiɔm baykabɔnɛt .
• Gi injεkshכn fכ thiamine (Vitamin B1) fכ slo di sik we de go bifo.

Sɔm pikin dɛn we nɔ gɛt bɛtɛ ɛnzaym kin bɛnifit if dɛn it tin dɛn we gɛt bɔku fat ɛn we nɔ gɛt bɔku kabɔhaydrɛt. sכm pikin dεm we gεt difrεnt fכ it kin nid fכ gi dεm tru tכb (`enteral nutrition`).

Wetin yu kin du if yu pikin gɛt di sik we dɛn kɔl Leigh Syndrome?

I nɔ kin izi fɔ kia fɔ pikin we gɛt sik we de mek i nɔ ebul fɔ liv in layf. Na sɔm tin dɛm wae yu kin du fɔ ɛp fɔ ridyus de strɛs, wɔri, ɛn pwɛl hat wae yu kin fil insay dis tɛm:

• Fɛn wɛlbɔdi we fɔ ridyus strɛs: lɛk fɔ tɔk to yu padi ɔ fɔ du sɔntin we yu lɛk fɔ du.
• Join sɔpɔt grup: Dis kin bi in-pɔsin ɔ onlayn grup. We yu tɔk to ɔda mama ɛn papa dɛn, dat kin ɛp yu fɔ lɛ yu nɔ fil se yu wangren de.
• Yu fɔ no gud gud wan bɔt yu pikin in sik, dɛn spɛshal sayn dɛn, ɛn aw di sik de go bifo.
• Mek tɛm fɔ yusɛf.Yu kin jɔs kia fɔ yu pikin gud gud wan if yu wɛl.
• Gɛt di sɔpɔt savis dɛm we yu pikin nid: lɛk fɔ kia fɔ wɛlbɔdi biznɛs na os ɛn fɔ ɛp yu fɔ gɛt wɛlbɔdi.
• Tɔk to pɔsin we sabi bɔt mental wɛlbɔdi biznɛs . Dis na tɛm we rili at, so nɔ shem fɔ aks fɔ ɛp.

Wetin na di fiuja fɔ pɔsin we gɛt Li Sindrom?

Bɔrku pikin dɛm wae gɛt Li sindrom kin day bikɔs dɛn nɔr kin ebul fɔ blo fayn we dɛn ol 3. I nɔ kin izi fɔ mek pikin we gɛt Li sindrom we kin bigin kwik kwik wan kin liv te i big. Pipul wae kin gɛt Li syndrome wae dɛn big kin liv te to dɛn 50 ia.

Yu tink se dɛn kin ebul fɔ avɔyd di sik we dɛn kɔl Leigh Syndrome?

If yu gɛt pikin we gɛt Li sindrom, yu kin du wan jenɛtik tɛst fɔ no if yu ɔ yu patna gɛt di jin muteshɔn we de mek i apin. Yu kin disayd fɔ mit wit wan pɔsin we de advays yu bɔt yu jɛnɛtiks fɔ tɔk bɔt aw fɔ ridyus di risk fɔ mek pikin dɛn we go kam fɔ gɛt di muteshon.

Ustɛm yu fɔ go to dɔktɔ?

If yu pikin gɛt ɛni wan pan dɛn sik ya, go to dɔktɔ wantɛm wantɛm:

• Divεlכpmεnt dilay כ lכs di abiliti dεm we bin de bifo.
• I nɔ kin izi fɔ yu fɔ blo, fɔ it, ɔ fɔ swɛla.
• Kɔnvulshɔn we pɔsin kin gɛt.
• Di slo we di bɔdi de gro sloslo.

Wetin a fɔ aks mi dɔktɔ?

Yu kin aks yu dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• Wetin kin mek mi pikin gɛt di sik we dɛn kɔl Lee syndrome?
• Us tritmɛnt dɛn go ɛp mi pikin?
• Wetin a go du fɔ ɛp mi pikin na os?
• Yu tink se mi ɛn mi patna fɔ gɛt jenɛtik tɛst?
• A fɔ no bɔt sayn dɛn we de sho se a gɛt prɔblɛm dɛn?

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

I nɔmal fɔ mek yu fil bad ɛn fil bad we yu kam fɔ no se yu pikin gɛt dis kayn sik we nɔ kin apin so ɔltɛm ɛn we kin mek i day . Bɔt mɛmba se nɔto yu wangren de. E fayn fɔ go to tritmɛnt frɔm dɔktɔ dɛm wae sabi dis sik. Bikɔs di sik we dɛn kɔl Lee syndrome kin afɛkt bɔku difrɛn pat dɛn na yu pikin in bɔdi, lɛk in bren, in yay, in at, ɛn in kidni, yu go nid fɔ go to sɔm difrɛn spɛshal dɔktɔ dɛn.

Dɛn dɔktɔ ya kin ɛp yu fɔ kɔntrol yu sik dɛn ɛn kɔnɛkt yu wit di sɔpɔt savis dɛm we yu ɛn yu pikin nid. Dɔn yu kin ɛnjɔy yu tɛm wit yu pikin as yu ebul. Dis joyn tranga, bɔt if yu lɛk yu, sɔpɔt yu, ɛn gi yu di rayt advays fɔ yu, yu go gɛt di trɛnk fɔ bia wit dis prɔblɛm.

leigh syndrome, mitochondrial disease, jεnεtik dizayd, pikin hεlth, divεlכpmεnt delay, nεv sεstem, εn כda tin dεm