Yu de wɔri bɔt aw yu pikin in bren de gro? Lɛ wi tɔk bɔt Mɛtakrɔmatik Lukodistrofi (MLD) .

As yu go dɔn notis, sɔm yɔŋ pikin dɛn kin gro difrɛn we pas ɔda wan dɛn. I nɔmal fɔ mek mama ɔ papa fil bad bad wan we dɛn bigin fɔ waka ɔ tɔk, ɛn dɛn notis se i de delay smɔl. Tide wi go tɔk bɔt wan jenɛtik sik we kin mek pɔsin strɛs jɔs lɛk aw i kin strɛs, bɔt i nɔ kin bɔku. Dɛn kɔl am mɛtakrɔmatik lukodistrofi, ɔ MLD fɔ shɔt tɛm. Pan ɔl we di nem kin tan lɛk se i kɔmplikt, lɛ wi tray fɔ mek i simpul.

Wetin na dis mɛtakrɔmatik lukodistrofi (MLD)?

Fɔ tɔk am simpul wan, `(MLD)` na wan jɛnɛtik sik we nɔ kin bɔku. I kin afɛkt wi sɛntral nervɔs sistɛm mɔ, dat na di wayt tin we de na di bren ɛn spɛshal kɔd , ɛn di periferik nɛv dɛn we de na wi an ɛn fut dɛn. `(MLD)` na ɔda sik we de insay di grup we na `(Lysosomal storage diseases)`.

Naw yu go de wɔnda aw dis wayt tin kin pwɛl. wan fεt tin de we dεn kכl `(Sulfatides)` insay wi sεl dεm. Dis fɔ nɔmal fɔ brok dɔŋ. bכt insay pכsin we gεt `(MLD)`, dεn `(Sulfatid)` dεm de kכmכt insay di sεl dεm. we dis de kכmכt, di `(myelin sheath)`, we na di protεktiv kכva we de rawnd di nεv fayb dεm, nכ de divεlכp fayn fayn wan. Dis maylin sheath tan lɛk di plastic sheath we de rawnd waya. Dis maylin na in de gi di wayt tin in wayt kɔlɔ.

So, wetin kin apin we dis maylin sheath de damej? di mental fכnshכn εn mכtal fכnshכn, dat na fכ mכsul muvmεnt, de dכn sכmtεm. Di sayn dɛm fɔ ``(MLD)`` kin kam tranga pasmak as tɛm de go, ɛn bɔku tɛm, day kin apin insay sɔm ia afta dɛn dɔn no se i gɛt di sik.

Dɛn kɔl dis mɛtakrɔmatik lukodistrofi fɔ wan spɛshal rizin. We pɔsin we de stɔdi bɔt sik dɛn luk am ɔnda maykroskɔp, di sɛl dɛn we gɛt dɛn sɔlfatayd ya kin tek kɔlɔ difrɛn we pas di ɔda sɛl dɛn we de rawnd dɛn. Na dat mek dɛn kɔl am "mɛtakrɔmatik." "Lukodystrophy" min se di wayt tin de pwɛl smɔl smɔl ("leuco" min wayt, ɛn "dystrophy" min se i de rɔtin).

Wetin na di men kayn `(MLD)`?

Tri men kayn we de fɔ dis sik (MLD). Dɛn sheb dɛn tin ya akɔdin to di ej we dɛn de divɛlɔp.

Let infantil MLD we dɛn kin yuz

Dis na di kayn MLD we kɔmɔn pas ɔl. I kin ambɔg pikin dɛn we ol bitwin 12 ɛn 20 mɔnt, ɔ lɛk wan ɛn af ia. Di sayn dɛm na wae i nɔr kin izi fɔ waka, i kin delay fɔ divɛlɔp, i kin blaynd, ɛn i kin gɛt dis maynia sik. I sɔri fɔ no se bɔku pikin dɛn we gɛt dis sik kin day bifo dɛn ol 5. Na lɛk 50% to 60% pan di wan dɛn we gɛt MLD kin fɔdɔm insay dis kategori.

Juvenile MLD (MLD) we de mek pikin dɛn .

Dis kayn we kin biI kin afɛkt pikin dɛm wae ol bitwin 3 ɛn 10. Dɛn pikin ya kin sho sɔm kayn sik lɛk wae dɛn nɔr de tink fayn, dɛn kin gɛt prɔblɛm wit dɛn bihayvya, dɛn kin gɛt sik wae de mɛk dɛn nɔr de fil fayn, ɛn dɛn kin gɛt dis maynia sik. Pikin we gɛt dis kayn MLD kin day insay 10 to 20 ia afta dɛn dɔn no se i gɛt am. Na lɛk 20% to 30% pan di wan dɛn we gɛt MLD kin fɔdɔm insay dis kategori.

MLD fɔ big pipul dɛn

Bɔku tɛm, i kin bigin afta we i ol 16 ia, dat na we i dɔn yɔŋ ɔ leta. De sayn dɛm na wae pɔrsin in maynd kin chenj, yu kin gɛt sik wae de mɛk yu fil bad, ɛn yu kin gɛt dis maynia sik. Day kin apin bitwin 6 ɛn 14 ia afta dɛn dɔn no se i gɛt dis sik. Na lɛk 15% to 20% pan di wan dɛn we gɛt MLD kin fɔdɔm insay dis kategori.

Aw di sik `(MLD)` nɔ kin bɔku?

Yɛs, MLD na sik we nɔ kin apin so ɔltɛm. Di wan dɛn we de stɔdi bɔt dis tɔk se i kin afɛkt lɛk wan pan ɛvri 40,000 pipul dɛn na Amɛrika. Bɔt i kin apin mɔ na sɔm pipul dɛn we nɔ de nia ɔda pipul dɛn. Fɔ ɛgzampul, dɛn dɔn si se di Navajo pipul dɛn gɛt lɛk wan pan ɛvri 2,500 pipul dɛn.

Wetin na di sayn dɛm fɔ `(MLD)` sik?

Di sayn dɛm fɔ MLD kin difrɛn difrɛn wan bay di kayn. Bɔt in jɛnɛral, ɔl kayn kin pwɛl smɔl smɔl di we aw di nervɔs sistɛm de wok. Dis min se tin dɛn lɛk di mɔsul dɛn we de muv, di sɛns, di we aw pɔsin de fil, ɛn di pɔsin we i bi kin afɛkt.

Di simptom dɛm fɔ let infantil MLD

di pikin dεm we gεt dis kayn `(MLD)` kin lεk fכ divεlכp nכmal wan, bכt afta lεk wan ia, dεn kin bigin fכ sho dεn simptom ya:

• I kin at fɔ waka , ɛn leta i nɔ kin izi fɔ waka atɔl.
• di mכsul dεm we wik (hypotonia) kin apin.
• Divεlכpmεnt dilay dεm de si.
• I nɔ kin izi fɔ tɔk (dysarthria).
• Smɔl smɔl , i nɔ de si igen ɛn i kin blaynd.
• I nɔ izi fɔ swɛla (dysphagia).
• Dimɛnshɔn kin apin.

Di simptom dɛm fɔ juvenail MLD

Pikin dɛn we gɛt dis kayn MLD kin sho sɔm sayn dɛn lɛk:

• Di tin dɛn we pɔsin kin ebul fɔ tink bɔt kin go dɔŋ. Wi kin notis dis we dɛn de du skul wok.
• Prɔblɛm dɛn kin kam wit di we aw pɔsin de biev .
• Dɛn kin si chenj dɛn na pɔsin in pɔsin.
• I nɔ ebul fɔ kɔntrol di we aw di mɔsul dɛn de muv.
• Pɛriferal nyuropathy kin apin.
• Seizures de kam.
• Dimɛnshɔn kin apin.

Di simptom dɛm fɔ big pipul MLD

Mental chenj na di men sayn dɛm wae dɛn kin si pan big pipul dɛm wae gɛt MLD.Prɔblɛm fɔ muv na yu bɔdi kin nɔ de ɔ nɔ kin bɔku. De fɔs sayn dɛm kin bi wae yu gɛt dis maynia sik wae yu de yuse rɔm, yu nɔr de yuse sɔm kayn mɛrɛsin, ɔr yu gɛt prɔblɛm na skul/wok.

Ɔda tin dɛn we dɛn kin du na:

• Prɔblɛm dɛn na yu maynd, lɛk fɔ si tin dɛn we yu de tink bɔt, fɔ gɛt saykosis, ɔ fɔ gɛt skizofrenia .
• Di sik dɛn we kin mek pɔsin sik.
• Nyuropathy we de na di periferik.
• Dimɛnshɔnal sik.

Sɔntɛnde, dɔktɔ dɛn kin misdiagnose MLD pan big pipul dɛm as bipolar disorder ɔr dimɛnshɔn.

Wetin kin mek `(MLD)`?

di men tin we de mek MLD na di jin mכtεshכn we dεn gεt frכm dεn tu mama εn papa.

Bɔku MLD pasɛnt dɛn gɛt wan muteshon na di ARSA jin. dis jin de instכkt fכ prodyuz wan εnzym we dεn kכl Arylsulfatase A. Dis εnzym de εp fכ brok dכn di sכlfatayd dεm we wi bin dכn tכk bכt. So, bikoz fכ di jin mכtεshכn, pipul dεm we gεt MLD nכ de prodyuz dis εnzym, כ prodyuz am bכku bכku wan. Dis kin mek di sɔlfayt dɛn kin gɛda. dis akyumyuleshכn fכ di sכlfatayd dεm na tכxik to di wayt mכtalman na di nεv sεstem, we de pwεl dεn sεl dεm.

sכm MLD pasεn dεm kin gεt mכtεshכn bak na di PSAP jin, we de gi instrכkshכn bak fכ brok dכn sכlfatayd dεm.

Dis na sɔntin we kɔmɔt frɔm jin?

Yes, `(MLD)` na jenɛtik sik. i de inhεrit insay wan `(autosomal rεsεsiv)` patεn. dis min se dεn tu mama εn papa fכ pכsin we gεt dis sik de kכri wan kכpi fכ dis mutated jin (`(carriers)`). Bɔt bɔku tɛm, dɛn mama ɛn papa dɛn de nɔ kin sho di sik. Fɔ mek pikin gɛt di sik, dis jin we nɔ fayn fɔ gɛt frɔm di mama ɛn di papa.

Wetin na di poshubul sayd ifekt dɛm fɔ `(MLD)`?

Di men sayd ifekt dɛm we kin apin bikɔs ɔf `(MLD)` na:

• Nyurokognitiv dεklin (dimεnsi) .
• Blayndnɛs bikɔs ɔf di optik nɛv atrofi.
• Malnutrishɔn.
• Aspiration nyumonia kin kam bikɔs it ɔ wata kin kam insay di say we di briz de blo .
• Day.

Aw dɛn kin no se pɔsin gɛt MLD?

If dɔktɔ (bɔku tɛm na nyurolɔjis) sɔspɛkt MLD bay di sayn dɛm we yu ɔ yu pikin gɛt, dɛn kin ɔda fɔ du tɛst lɛk:

• jεnεtik tεst: dis kin dεtekt mכtεshכn dεm na di jin dεm ``ARSA'' εn ``PSAP'' we de mek ``MLD''.
• Bayokɛmikɛl tɛst: .dis kin mכsu di lεvεl fכ `(Sulfatides)` na yu bכdi. fכ egzampl, dεn de tεst di `(Sulfatase)` εnzym aktiviti εn di `(Sulfatides)` lεvεl dεm na di urine.
• Bren MRI: Dis kin ɛp fɔ kɔnfɔm di diagnosis fɔ MLD. Bikɔs pipul dɛn we gɛt MLD gɛt wan patikyula patɛn we dɛn kin lɔs di maylin, dɛn kin yuz MRI fɔ no if maylin de ɔ nɔ de.

We dɛn dɔn no se yu gɛt MLD, dɛn kin aks yu fɔ du ɔda tɛst fɔ si aw di sik dɔn afɛkt yu nervɔs sistɛm. Dɛn tin ya na:

• Nyurokognitiv tɛst we dɛn kin du.
• Nyurosaykolojik tɛst.
• Nεv kכndukshכn tεst dεm.

Wetin na di tritmɛnt dɛm fɔ `(MLD)`?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ MLD. Di men gol fɔ tritmɛnt na fɔ kɔntrol di sayn dɛm ɛn fɔ mek yu gɛt bɛtɛ layf. Dɔktɔ dɛn kin se dɛn fɔ transplant stem sɛl fɔ mek di sik nɔ go bifo kwik kwik wan, bifo di sik sho ɔ pan pikin dɛn we nɔ gɛt bɛtɛ sayn.

Dɛn kin gi difrɛn kayn mɛrɛsin fɔ kɔntrol di sik, lɛk:

• Antikonvulsant mɛrɛsin fɔ mek yu gɛt sik.
• Ridyus di mכsul dεm stiffness (spasticity) (mכsul rilaksant dεm).
• Antidipreshan fɔ mental prɔblɛm.
• NSAID ɛn ɔda tin dɛn we de mek pɔsin fil pen fɔ mek pɔsin fil pen.

Ɔda tritmɛnt dɛn we dɛn kin yuz na:

• Fizik tɛrapi fɔ ridyus di mɔsul dɛn trɛnk ɛn stiffness.
• Occupational therapy fɔ ɛp wit di wok dɛn we pɔsin kin du ɛvride.
• Spich therapy fɔ tɔk ɛn swɛla prɔblɛm.
• Saykotɛrapi fɔ mental wɛlbɔdi prɔblɛm.
• Pεrkyuta εndoskopik gastronomi (PEG) na wan we fכ it tru wan tכb insay di bεlε fכ it dizכrd εn nyutrishכnal prכblεm.

Yu ɔ yu pikin kin fit bak fɔ gɛt palliativ kia . Palliative care na di kia wae de gi rilif frɔm di sayn dɛm, kɔmfɔt, ɛn sɔpɔt fɔ pipul dɛm wae gɛt siriɔs sik lɛk MLD. I de gi bɔku fridɔm bak to di wan dɛn we de kia fɔ di pɔsin. Dɛn kin du am togɛda wit ɔda tritmɛnt dɛn fɔ MLD.

Wetin kin apin to pɔrsin wae gɛt di sik `(MLD)`? (Di we aw di sik de go bifo)

Di prɔgnosis fɔ MLD nɔ rili gud. Na sik we de go bifo. Dis min se de sik kin skata ɛn de wɔs. Pɔsin we gɛt MLD kin lɔs in mɔsul ɛn maynd wok kpatakpata, ɛn leta i kin day.

Aw lɔŋ yu kin liv wit `(MLD)`?

Aw lɔng pɔrsin wae gɛt MLD de liv de dipen pan di ej wae dɛn fɔs no di sik.

• Let infantil fɔm: .Bɔku tɛm, pɔsin kin day insay fayv to siks ia afta dɛn dɔn no se i gɛt di sik.
• Juvenile form: Dis kayn sik nɔ kin bɔku ɛn i kin mek pɔsin day insay 10 to 20 ia afta dɛn dɔn no se i gɛt am.
• Fɔm fɔ big pipul: Day kin apin bitwin 6 ɛn 14 ia afta dɛn dɔn no se i gɛt am.

I gɛt we fɔ mek dɛn nɔ gɛt `(MLD)`?

Bikɔs MLD na sik we pɔsin kin gɛt we i kam pan jɛnɛtiks, natin nɔ de we dɛn kin du fɔ mek i nɔ gɛt am.

Bɔt if pɔsin na yu famili gɛt MLD ɛn yu de plan fɔ bɔn pikin, i go fayn fɔ mek yu go to jenɛtik kɔyl fɔ no if yusɛf gɛt dis jenɛtik muteshɔn.

Aw yu kin kia fɔ pɔsin we gɛt `(MLD)`? / Wetin yu kin du if yu ɔ yu pikin gɛt `(MLD)`?

If yu ɔ yu pikin gɛt MLD, i impɔtant fɔ gɛt di bɛst mɛrɛsin we pɔsin kin gɛt. Yu nid fɔ advatayz fɔ am ɛn gɛt pashɔn fɔ am. Na da tɛm de nɔmɔ yu go ebul fɔ kɔntinyu fɔ gɛt di bɛst kwaliti fɔ liv.

Dɔn bak, i rili valyu fɔ jɔyn sɔpɔt grup fɔ mit ɔda pipul dɛn we gɛt di sem ɛkspiriɛns lɛk yu yon ɛn sheb aydia.

Ustɛm yu fɔ go to dɔktɔ?

If yu ɔ yu pikin gɛt MLD, yu fɔ mit wit yu mɛdikal tim ɔltɛm fɔ si aw di sik de go bifo ɛn ajɔst yu tritmɛnt plan as nid de.

Wan diagnosis fɔ (MLD) kin tranga. Bɔt yu wɛlbɔdi tim kin ɛp yu fɔ mek wan plan fɔ mɛn di sik dɛn we go wok fɔ yu. I impɔtant fɔ mek shɔ se yu de gɛt di sɔpɔt we yu nid ɛn fɔ de pan yu wɛlbɔdi. Mɛmba se yu wɛlbɔdi tim de ɔltɛm fɔ ɛp yu ɛn yu famili.

If wi put togeda di tin dem we wi tok abaut (Take-Home Message) .

Okay, so wi bin tok plenti boht `(Metachromatic Leukodystrophy - MLD)` tide, no so?

Fɔ tɔk am simpul wan, `(MLD)` na wan sik we nɔ kin bɔku, we gɛt jɛnɛtiks. I de pwɛl di wayt tin na di bren ɛn di nervɔs sistɛm. i de kכz fכ wan kayn fεt we dεn kכl `(Sulfatid)` insay di sεl dεm.

Tri kayn dis sik de – pikin, big pipul, ɛn pikin. Ɛni wan pan dɛn gɛt difrɛn sayn dɛn ɛn aw dɛn de go bifo.

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ dis sik. Bɔt difrɛn tritmɛnt dɛn de we kin ɛp fɔ kɔntrol di sik dɛn ɛn kɔntinyu fɔ gɛt gud kwaliti layf. Sɔntɛnde, we dɛn transplant stem sɛl kin ɛp fɔ kɔntrol di sik we de prɛd.

Pan ɔl we dis na sik we pɔsin kin gɛt we i kam pan in jɛnɛtiks ɛn i nɔ go ebul fɔ avɔyd am, i impɔtant fɔ gi advays bɔt in jɛnɛtiks if i gɛt famili istri.

De tin wae impɔtant pas ɔl na fɔ gi di pɔrsin wae gɛt dis sik di bɛst kia ɛn sɔpɔt.Di rayt tritmɛnt, di kia we dɛn kin gi fɔ mek dɛn nɔ fil bad, ɛn di lɔv ɛn atɛnshɔn we dɛn kin gi dɛn famili, ɔl na tin dɛn we rili impɔtant. Nɔto yu wan de, ɛn dɔktɔ, advays, ɛn sɔpɔt grup dɛn de fɔ ɛp yu pan dis waka.

` Mεtakromatik lukodistrofi, MLD, jεnεtik sik dεm, nyurolכjik sik dεm, wayt mat, maylin, pikin dεm sik dεm