Yu pikin gɛt dɛn sik ya? Lɛ wi lan bɔt ALD (Adrenoleukodystrophy) .

Yu dɔn ɛva yɛri bɔt wan sik we dɛn kɔl ALD (Adrenoleukodystrophy)? Di nem kin tan lɛk se i kɔmplikt smɔl. Bɔt lɛ wi kip am simpul. Na wan jenɛtik kɔndishɔn, we min se na sɔntin we wi kin gɛt frɔm wi mama ɛn papa. I kin afɛkt wi nervɔs sistɛm ɛn di adrenal gland dɛn spɛshal wan. Sɔmtɛm, dɛn sayn ya kin kam wit di chenj we dɛn de biev ɛn di prɔblɛm fɔ lan na yɔŋ pikin dɛn.

Wetin na ALD (Adrenoleukodystrophy)? Lɛ wi ɔndastand am simpul wan.

Okay, mek wi si fɔs wetin na ALD ɛksaktɔli. ALD na wan sik we nɔ kin apin so ɔltɛm we de pan wan grup we gɛt prɔblɛm wit in jɛnɛtiks . dis grup dεn kכl am ``Leukodystrophies.'' fכ simpul wan, dεn sik ya de kכz fכ chenj, כ mכtεshכn, na wi bכdi in jin dεm, dat na wi ``DNA.'' Wi ``DNA'' lεk wan sεt fכ instrכkshכn fכ aw wi bכdi fכ wok.

ALD na sik we de go bifo, we min se i de wɔs smɔl smɔl. So, di praymar gol fɔ tritmɛnt na fɔ slo di sik ɛn gi di sikman dɛn bɛtɛ kwaliti layf.

Wetin kin apin to di bɔdi we gɛt ALD?

pan pɔsin we gɛt ALD, di bɔdi nɔ kin ebul fɔ brok sɔm kayn fat fayn fayn wan, mɔ di Very-Long-Chain Fatty Acids (VLCFAs). Dis na lɛk di dɔti we de na wi os we wi nɔ go ebul fɔ pul. so, dεn VLCFA dεm ya kin bigin fכ kכmכt na di bren, di nεv sεstem, εn di adrenal kכtεks, we na di כta pat pan di adrenal gland.

Sayɛnsman dɛn stil nɔ rili shɔ wetin rili apin to di bɔdi we dɛn ``VLCFA`` ya kin gɛda. bכt risεch sho se dis akyumyuleshכn de mek inflameshn εn i de pwεl di protεktiv kכva we de rawnd di nεv sεl dεm na wi bren, we dεn kכl di ``myelin sheath`` .

Tink bɔt am lɛk di plastic sheath we de rawnd waya. We i dɔn go, di waya nɔ de wok fayn. semweso, we di maylin sεl dεm dכn pwεl, di nεv sεl dεm nכ kin ebul fכ sεnd mεsej frכm di bren to di rεst כf di bכdi. Dis kin ambɔg bɔku tin dɛn we di bɔdi de du, lɛk fɔ waka ɛn tink.

ALD kin pwɛl di adrenal gland dɛn bak, we kin mek sɔm ɔmon dɛn na di bɔdi go dɔŋ. Dɛn adrenal gland ya de ɔp wi kidni dɛn. Dɛn kin mek ɔmon dɛn we kin afɛkt man ɛn uman kwaliti dɛn ɛn ɔmon dɛn we kin ansa we pɔsin strɛs.

Aw dɛn kin gɛt ALD?

Bikɔs ALD na sik we pɔsin kin gɛt we i kam pan in jɛnɛtiks, i kin gɛt am frɔm wan mama ɔ papa ɔ ɔl tu. I kin kam bikɔs ɔf prɔblɛm wit di X kromozom , we sɔm tɛm dɛn kin kɔl X-linked ALD.

Aw kɔmɔn tin fɔ ALD?

Dis na sik we nɔ kin rili apin.Ɔlsay na di wɔl, dis sik kin ambɔg lɛk wan pan ɛvri 15,000 pipul dɛn. I kin bɔku pan man dɛn pas uman dɛn.

Wetin kin mek pɔsin gɛt ALD?

Di men tin we kin mek pɔsin gɛt ALD na we wan patikyula jin chenj. Wi jin dɛn tan lɛk wan sɛt ɔf instrɔkshɔn fɔ mek prɔtin dɛn we impɔtant fɔ mek di bɔdi wok. We wan jin chenj, i kin mek dɛn mek di rɔng kayn prɔtin.

insay ALD, di prכblεm de insay di jin we dεn kכl `(ABCD1)`. dis jin de mek wan protin we dεn kכl `(ALDP)`. dis protin na in de εp fכ brok dכn di `(VLCFAs)` we wi bin tכk bכt fכs. so, biכs dis protin nכ de prodyuz fayn, `(VLCFAs)` de kכmכt insay di bכdi in tisu dεm.

Wetin na di difrɛn kayn ALD?

Bɔku men kayn ALD dɛn de:

• Childhood cerebral ALD: Bɔy pikin dɛm we gɛt dis kayn kin bigin fɔ sho di sayn dɛm fɔ di nervous system bitwin 3 ɛn 10. I sɔprayz fɔ no se dɛn pikin ya kin divɛlɔp nɔmal wan we dɛn smɔl. Dɔn, di tin dɛn we dɛn ebul fɔ du kin bigin fɔ stɔp smɔl smɔl. Bɔku tɛm, dɛn kin sho se dɛn gɛt prɔblɛm wit dɛn we aw dɛn de biev, lɛk we i nɔ kin izi fɔ mek dɛn pe atɛnshɔn to dɛn na skul. Sɔm kayn sik kin apin. Di pikin kin day insay sɔm ia frɔm di tɛm we dɛn sik ya bigin.
• Addison in sik wit ALD: Along wit di simptom dɛm fɔ di nervous system, ALD kin mek di adrenal gland dɛm stɔp fɔ wok fayn fayn wan. Dɛn kɔl dis sik we dɛn kɔl Addison . We yu gɛt dis sik, yu adrenal gland dɛn nɔ kin mek di ɔmon we dɛn kɔl kɔtisol . Di sayn dɛm na we yu nɔ kin want fɔ it ɛn yu mɔsul dɛn kin wik.
• Adrenomyeloneuropathy (AMN) ɔ ALD we kin bigin fɔ big pipul dɛn: Dis na wan kayn ALD we nɔ kin izi fɔ du. I kin bigin bitwin di ej dɛm fɔ 21 ɛn 35. Pipul dɛm wae gɛt AMN kin gɛt prɔblɛm wit ɔl tu di adrenal gland dɛm ɛn di nervous system. ALD we kin bigin fɔ big pipul dɛn nɔ kin wɔs kwik kwik wan lɛk di ALD we dɛn kin gɛt we dɛn smɔl, bɔt i kin mek bak di bren wok go dɔŋ pan big pipul dɛn. Di sayn dɛm na di leg kramp ɛn pen na di limb dɛm.

Apat frɔm dis, sɔm ɔda kayn ALD dɛn de we nɔ kin bɔku:

• Adrenal insufficiency-only ALD: Sɔm pipul kin gɛt Addison in sik dɛn wan, ɛn dɛn nɔ kin gɛt ɛni prɔblɛm wit di nervous system. Na lɛk wan pan ɛvri tɛn pipul dɛm wae gɛt ALD gɛt dis kayn.
• Adult cerebral ALD: Na lɛk wan pan fayv pan di big man dɛm we gɛt dis sik gɛt prɔblɛm wit dɛn maynd we fiba di wan dɛm we gɛt pikin dɛm sɛribra ALD.As tɛm de go, dɛn maynd ɛn nyurolɔjik wok kin pwɛl bad bad wan. Bɔrku big pipul dɛm wae gɛt dis kayn sik kin day pan dis sik.
• Uman dɛm we gɛt ALD: Na lɛk wan pan ɛvri fayv uman dɛm we gɛt ALD kin gɛt di sik we dɛn ol 40. We dɛn ol 60 ia, 90% kin gɛt di sayn dɛm. Bɔt, bɔrku tɛm, di sayn dɛm wae de sho se yu gɛt dis sik nɔr kin so. Fɔ ɛgzampul, di leg dɛn kin wik smɔl ɛn stif.

Ustɛm di ALD sayn dɛn kin apia?

Di sayn dɛm fɔ ALD kin bigin bitwin 3 ɛn 10 ia. Bɔt sɔm tɛm dɛn kin bigin leta na layf. Di we aw ALD kin bigin we dɛn smɔl na in kin rili bad.

Wetin na di kɔmɔn sayn dɛm fɔ ALD?

Ɛni kayn ALD gɛt in yon sɛt fɔ simptom dɛm. Bɔku tɛm, dɛn kin si ɔl tu di nyurolɔjik ɛn ɔmon simptom dɛm.

Di simptom dɛm fɔ pikin dɛm sɛribra ALD:

Di sayn dɛm wae dɛn kin si na di fɔs stej dɛm:

• Prɔblɛm fɔ biev: Fɔ ɛgzampul, Atɛnshɔn Dɛfisit Hyperactivity Disorder (ADHD) ɛn disabiliti fɔ lan.
• Kɔgnitiv dɛfisit: Dɛn tin ya na prɔblɛm wae de mek pɔrsin tink ɛn ɔndastand nyu infɔmeshɔn. Pikin kin fil "lost in a dream world" na skul. Dɛn kin gɛt prɔblɛm fɔ rid, rayt, ɛn sɔlv prɔblɛm dɛn we de na di say we dɛn de.
• Rigrɛshɔn: Dis min se pikin dɛn kin lɔs di tin dɛn we dɛn bin dɔn ebul fɔ du trade.

As de sik de go bifo, yu kin si sɔm sayn dɛm bak lɛk:

• Prɔblɛm dɛn we pɔsin kin gɛt we i de si
• I nɔ de yɛri fayn
• I nɔ izi fɔ waka
• Wik ɛn stiffness na di limb dɛm
• Kɔnvulshɔn ɛn sik we de mek pɔsin sik
• Dimɛnshɔnal sik
• I nɔ izi fɔ it
• Fɔ vɔmit

Afta sɔm tɛm, pikin dɛn kin lɔs bɔku pan dɛn nervɔs sistɛm wok. Dɛn nɔ de si, yɛri, ɛn muv bay dɛnsɛf. as di sik de go bifo, pikin dεm de go insay wan `vεgetativ stet.' Bɔku tɛm pikin dɛn kin day insay tu to tri ia afta di nyurolɔjik simptom dɛn bigin.

Di sayn dɛm fɔ Addison in sik:

Di sayn dɛm we de sho se di adrenal nɔ de wok fayn:

• Taya
• We yu de lɔs yu wet
• Nɔs ɛn vɔmit
• Prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin de digest
• Fɔ fil se yu wik
• Ed we kin at na mɔnin
• Lɔw blɔd prɛshɔn (Hypotension) .
• Di blɔd shuga lɛvɛl smɔl (Hypoglycemia) .
• Di skin we de dak we yu nɔ de na di san (Hyperpigmented skin) .

Di simptom dɛm fɔ adrenomyeloneuropathy (AMN):

Dɛn tin ya na:

• di mכsul dεm na di lכw pat dεm we de sכm, wik, כ paralayz .
• Ataxia na wan nyurolɔjik kɔndishɔn we de afɛkt muvmɛnt.
• Numbness ɛn pen.
• Erectile dysfunction we nɔ de wok fayn.
• Inability fכ kכntro di bכdi muvmεnt (bכwel inkontinεns).
• I nɔ izi fɔ kɔntrol di urine.
• Boldness bikɔs ɔf di tɛm we i dɔn ol.

Wetin mek ALD kin afɛkt man ɛn uman difrɛn we?

ALD na X-linked jenɛtik sik, we min se na wan mutated jin na di X kromozom de mek am.

di uman dεm gεt tu X kromozom dεm. Dɛn kin bi pipul dɛm wae gɛt dis sik. כltεm, wan X kromozom na "inactive." Dis min se di jin dεm na da kromozom de nכ de wok.

כl di tεm dεm, uman dεn nכ de sho di simptom dεm biכs di mutated jin de pan di "inactive" X kromozom. Uman dɛm we kin sho di sik kin gɛt wan kayn we we nɔ kin rili bad we kin apin we dɛn big.

Na wan X kromozom nɔmɔ man dɛn gɛt. biכs nכ protεkshכn de frכm εkstra X kromozom, di mutated X kromozom kin mek ALD bi mכr siriכs pan man dεm.

Ustɛm dɛn kin no se pɔsin gɛt ALD?

Sɔm pikin dɛn kin no se dɛn gɛt di sik we dɛn bɔn dɛn we dɛn de chɛk di nyu bɔn pikin dɛn . Dɛn tɛst ya kin chɛk fɔ sɔm sik dɛn. Insay sɔm kɔntri dɛn, dɛn kin tɛst pikin dɛn we dɛn jɔs bɔn bak fɔ gɛt ALD we dɛn de du dɛn skrinin ya na di ɔspitul. Bɔt bɔku tɛm, mama ɛn papa ɔ dɔktɔ dɛn kin jɔs sɔprayz am we dɛn notis di sayn dɛn we di pikin gɛt insay di fɔs sɔm ia dɛn.

Pipul wae gɛt di kayn sik wae kin bigin fɔ bi big pipul kin ɔlrɛdi no se dɛn gɛt dis sik afta dɛn dɔn si dɔktɔ bikɔs ɔf di sayn dɛm.

Udat fɔ gɛt tɛst fɔ ALD?

Mama ɛn papa ɛn dɔktɔ dɛn fɔ sɔprayz se ALD de pan dɛn kayn tin ya:

• If bɔy pikin we gɛt ADD ɔ ADHD gɛt sayn dɛn bak fɔ wan nervous system disorder.
• If yɔŋ man gɛt prɔblɛm fɔ waka ɔ muv, ɛn dɛn prɔblɛm dɛn de de wɔs smɔl smɔl.
• Man we ol eni ej kin gɛt dis sik we dɛn kɔl Addison, ilɛksɛf i nɔ gɛt ɛni ɔda sayn ɔ prɔblɛm.
• If uman we dɔn ol kin gɛt mɔsul dɛn we kin wik smɔl smɔl.

Aw dɛn kin no se pɔsin gɛt ALD?

Dɔktɔ dɛn go rivyu yu pikin in mɛdikal istri ɛn famili mɛdikal istri. If yu tink se yu pikin gɛt ALD, yu pikin kin gɛt tɛst dɛn lɛk:

• Blɔd tɛst fɔ no di lɛvɛl we `(VLCFA)` de na di blɔd.
• Wan jεnεtik tεst fכ luk fכ jεnεtik chenj dεm we de asai wit ALD כ כda kכndyushכn dεm.
• tεst di fכnshכn fכ di adrenal gland dεm wit wan adrenocorticotropic כmon stimulashכn tεst (ACTH stimulashכn tεst).
• Dɛn kin du MRI skan fɔ si aw ALD dɔn afɛkt di bren.

If dɛn du yu jenɛtik tɛst fɔ no se yu gɛt ALD, yu dɔktɔ kin tɛl ɔda pipul dɛn na yu famili bak fɔ du jenɛtik tɛst.

Wetin na di tritmɛnt dɛm fɔ ALD?

Naw, no mɛrɛsin nɔ de fɔ ALD. Di tritmɛnt de pe atɛnshɔn fɔ mek di sik slo ɛn kɔntrol di sayn dɛm.

Di tritmɛnt opshɔn dɛm dipen pan di kayn ALD ɛn di sayn dɛm. Dɛn tin ya kin bi:

• Tritmɛnt fɔ di adrenal ɔmon: Pipul dɛn we gɛt ALD nid fɔ de chɛk dɛn adrenal gland ɔltɛm. Kɔtikosterɔyd riplesmɛnt tɛrapi kin trit di adrenal insufisɛns.
• stεm sεl transplant: Dis na di כnli tritmεnt we kin slo di prכgreshכn fכ ALD pan pikin dεm. If dɛn no di sik kwik kwik wan, dis transplant kin stɔp di sik. If MRI skan sho se ALD dɔn afɛkt di bren, bɔt di pikin nɔ sho klia sayn dɛn pan nyurolɔjik ɛgzam, dɔktɔ dɛn kin se dɛn fɔ transplant stem sɛl.
• Mɛrɛsin: Dɔktɔ kin gi yu mɛrɛsin fɔ ɛp wit di sayn dɛm lɛk we yu de shek shek ɔ we yu mɔsul dɛn stif.

Ɔda tritmɛnt dɛn we go ɛp yu:

• Fizik tɛrapi.
• Saikɔlɔjik sɔpɔt.
• Speshal ɛdyukeshɔn.

Di tritmɛnt dɛn we dɛn kin yuz fɔ du risach:

• Jin tɛrapi: Dis kin tek ples fɔ wan jin we nɔ fayn wit wan jin we de wok nɔmal wan.
• Lorenzo in ɔyl: Dis na miksɔp ɔf ɔlɛk asid ɛn ɛrusik asid. Dɛn se i de ridyus di lɛvɛl dɛn na di VLCFA na di blɔd. If dɛn gi pikin dɛn bifo di sik sho, i kin delay ɔ slo di sayn fɔ bigin.

Wetin na di fiuja fɔ pikin dɛn we gɛt ALD?

Di prɔgnosis fɔ pɔsin we gɛt ALD de dipen pan di kayn sik we i gɛt. di prכgnosis fכ pikin dεm we gεt sεribra X-ALD jεnarali pwεl. If dɛn nɔ no di sik kwik kwik wan ɛn dɛn transplant stem sɛl, dɛn nyurolɔjik wok go pwɛl. Bɔku tɛm, pikin dɛn kin day insay sɔm ia afta di sik bigin.

Fɔ pipul dɛm wae gɛt big pipul dɛm wae kin bigin (AMN), dis sik kin go bifo smɔl smɔl fɔ lɔng lɔng tɛm.

Yu tink se dɛn kin mek dɛn nɔ gɛt ALD?

Naw, no we nɔ de we dɛn no fɔ mek dɛn nɔ gɛt ALD. If pɔsin na yu famili gɛt ALD, go to di jenɛtik tɛst ɛn advays lɛk aw yu dɔktɔ tɛl yu.

Aw a fɔ trit mi pikin we gɛt ALD?

Fɔ ɛp yu kwik kwik wan de gi yu di bɛst chans fɔ mek yu gɛt di tritmɛnt we go wok fayn. If yu notis ɛni chenj na yu pikin in bihayvya ɔ in maynd, tɔk to yu dɔktɔ wantɛm wantɛm. Dɔn bak, if i tan lɛk se yu pikin de lɔs di skil dɛn we i bin gɛt trade, tɛl yu dɔktɔ bɔt dis.

Di tim we de kia fɔ yu pikin fɔ gɛt:

• Wan dɔktɔ we de mɛn pikin dɛn.
• Pikin ɛn big pipul dɛn nyurolɔjis.
• Wan dɔktɔ we de mɛn yurolɔg.
• Ɛndokrinɔlɔjis.
• Saykayatrist.
• Fizik tɛrapist.
• Jɛnɛtik advaysa.
• Ɔda spɛshal pipul dɛn as nid de.

Wetin a fɔ aks mi dɔktɔ bɔt ALD?

If dɛn no se yu pikin gɛt ALD, aks yu dɔktɔ bɔt dɛn tin ya:

• Mi pikin kin gɛt stem sɛl transplant?
• Mi pikin nid tritmɛnt fɔ stɛroyd?
• Aw mi pikin in fiuja go tan lɛk?
• Wetin ɔda tin wi kin du fɔ mek mi pikin nɔ gɛt bɛtɛ sik?
• Yu tink se ɔda pipul dɛn na di famili fɔ tɛst dɛn jɛnɛtiks?
• Ɛni klinik trial de we mi pikin kin tek pat pan?

Fɔ dɔn, tin dɛn we wi fɔ mɛmba

ALD na wan sik we pɔsin kin gɛt we i de afɛkt di nervɔs sistɛm ɛn di adrenal gland dɛn. Bɔku tɛm, di sayn dɛn kin bigin we dɛn smɔl. If pikin dɛn lɔs di tin dɛn we dɛn bin dɔn ebul fɔ du trade ɔ sho se dɛn de biev chenj, go to dɔktɔ wantɛm wantɛm. Di kwik we dɛn bigin fɔ trit ALD, na di mɔ i go mek di sik slo. Bɔku tritmɛnt dɛn de fɔ ALD, lɛk fɔ transplant stem sɛl, mɛrɛsin, ɛn sɔpɔt kia. Yu mɛdikal tim go tɔk to yu bɔt yu pikin in patikyula kɔndishɔn ɛn tumara bambay. Nɔ ɛva panik, i impɔtant fɔ gɛt di rayt infɔmeshɔn ɛn fala yu dɔktɔ in advays.

` ALD, Adrenoleukodystrophy, Jɛnɛtik Sik, Nyurolɔjik Sik, Pikin, Ɔmon, VLCFA