Yu smɔl pikin gɛt strenj kɔl ia? Mek wi lan bɔt Menkes Disease!

Yu dɔn ɛva notis se yu smɔl pikin in ia rili strenj, i kɔl lɛk waya, in kɔlɔ layt, ɛn i kin brok izi wan? Ɔ yu pikin in bɔdi kin rili lɔs ɛn kol? Pan ɔl we dɛn tin ya na tin dɛn we wi nɔ kin pe atɛnshɔn to bɔku tɛm, dɛn kin bi di fɔs sayn fɔ sɔm sik dɛn we nɔ kin apin so ɔltɛm. fכ egzampl, wan sik we kin apin pan pikin dεm, bכt dεn nכ de tכk bכku bכku wan, dεn kכl am Menkes Disease. Lɛ wi tɔk bɔt dis smɔl mɔ tide.

Wetin na Menkes Sik? Fɔ tɔk am simpul wan...

Menke in sik na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . I min se dɛn bɔn pikin wit am. Wetin kin apin pan dis na dat di bɔdi nɔ kin ebul fɔ yuz di impɔtant tin we dɛn kɔl kɔpa fayn fayn wan . Naw yu go de tink se, "Wetin kɔpa de fɔ?" Fɔ tru, kɔpa na sɔntin we de ɛp bɔku impɔtant tin dɛn na wi bɔdi fɔ wok fayn fayn wan. Tink bɔt dis:

• di nεv sεstem we wi kin gεt (dat na di bren εn di nεv dεm we de rכn כlsay na di bכdi) fכ wok fayn fayn wan.
• Kip wi bon dɛn strɔng.
• Mek wi ia ɛn wi skin gɛt wɛlbɔdi.
• Wi blɔd vesel dɛn (we blɔd de flɔ) fɔ wok fayn fayn wan.

Kɔpa impɔtant fɔ ɔl dɛn tin ya. So, bikɔs di bɔdi fɔ pikin we gɛt Menkes Disease nɔ de yuz dis kɔpa fayn, i kin mek i gɛt siriɔs damej, mɔ di nervɔs sistɛm. Dis kin mek di pikin nɔ de gro fayn ɛn di bɔdi kin wik. Di tin we sɔri na dat, dis sik kin mek pɔsin in layf de pan denja .

pan dis sik, di pikin in ia kin kכl strenj wan εn i kin tan lεk waya, so sכm pipul dεn kin kכl am "kinky hair disease."

Di impɔtant tin na dat, no kɔmplit mɛrɛsin nɔ de yet fɔ dis. Bɔt if dɛn bigin fɔ trit di pikin wit kɔpa insay di fɔs 4 wiks we di pikin bɔn, i pɔsibul fɔ mek di sik nɔ bɔku ɛn mek di pikin in layf lɔng smɔl. So, fɔ no di sik kwik kwik wan rili impɔtant.

Aw kɔmɔn tin na Menkes Disease?

Ɔlsay na di wɔl, dɛn bin de tink trade se na lɛk wan pan ɛvri 100,000 pikin dɛn we dɛn jɔs bɔn kin gɛt dis sik. Dat na lɛk wan pan ɔl tu ɛn af milyɔn pipul dɛn.

Bɔt wan nyu stɔdi we dɛn du insay 2020 we dɛn yuz di data frɔm di Genome Aggregation Database, sho se dis nɔmba kin pas dat fa fawe. Fɔ fala dis, dɛn se wan pan ɛvri 8,664 man pikin dɛn na Amɛrika nɔmɔ, ɔ lɛk 225 pikin dɛn ɛvri ia, kin gɛt dis sik.

If dɛn mek we fɔ chɛk di pikin dɛn we dɛn jɔs bɔn tumara bambay, dɛn go kɔnfyus dɛn statystik ya mɔ ɛn i go pɔsibul fɔ no di sik kwik kwik wan ɛn bigin fɔ trit am.

Udat kin gɛt dis sik pas ɔlman?

Menkes Disease kin kam pan bɔy pikin dɛm.Na di wan we de afɛkt mɔ. Bɔt i kin afɛkt ɛni rays, ɛni etnik grup.

Wetin na di sayn dɛm fɔ Menkes Disease?

Sɔntɛnde dɛn kin bɔn pikin dɛn we gɛt Menkes Disease bifo tɛm . Dɛn kin tan lɛk se dɛn kin gɛt wɛlbɔdi we dɛn bɔn dɛn.

Bɔt di fɔs sayn dɛm kin bigin fɔ sho arawnd 2 to 3 mɔnt . Dɛn tin ya na:

• Kinky hair na wan kayn ia we kɔl, waya, ɛn wev. Dis ia gɛt kɔlɔ we rili layt, sɔntɛnde i kin wayt ɔ grey. I kin brok bak izi wan.
• di mכsul dεm we de dכn (Hypotonia): Dis min se di pikin in bכdi de sכmtεm bכku bכku wan. I tan lɛk se i nɔ gɛt layf.
• di bכdi tεmprachכ lכw (Hypothermia): di pikin in bכdi de fil kol כltεm.
• Di fes kin tan lɛk se i de drɔp .
• Simptom dɛm fɔ epilepsy (seizures/epilepsy) , dat na, tin dɛm wae tan lɛk seizure.
• We i nɔ de gro fayn: Di pikin nɔ de gro fayn ɛn i nɔ de gɛt bɔku bɔku wet .
• Di skin ɛn di yay dɛn kin yɔlɔ (jaundice).

dis sayn dεm nכ de sho pan εvri pikin di sem tεm. Sɔntɛnde, pan ɔl we i nɔ kin apin so ɔltɛm, dɛn sik ya kin apin leta we dɛn smɔl ɔ ivin we dɛn yɔŋ.

Wetin na de prɔblɛm wae kin kam wit Menkes Syndrome?

Menkes Syndrome na wan nyurodijɛnɛraytiv dizayd we de pwɛl di nervɔs sistɛm smɔl smɔl . Dis min se as tɛm de go, di prɔblɛm dɛn we pɔsin kin gɛt we i de tink bɔt sɔntin kin apin na di bren ɛn di we aw i kin tink. Pikin ɛn big pipul dɛn we gɛt dis sik kin gɛt prɔblɛm dɛn lɛk:

• Prɔblɛm dɛn lɛk blɔd we de kɔmɔt na di bren (subdural hematomas) .
• divεrtikulכsis na di divεlכpmεnt fכ sכm sכm paus dεm we de kכmכt frכm di wכl dεm na di intestinal כ blad.
• di fכmeshכn fכ εkstra sכm bon dεm (Wormian bon dεm) na di sכkul.
• Lɔs di motoka skil dɛm .
• Ɔstioporosis na wan sik we kin mek di bon dɛn wik ɛn brok, ɛn dis kin mek i izi fɔ brok.
• Arterial tortuosity sindrom we gɛt di sik .

Sɔntin de we impɔtant fɔ tɔk na ya. Sɔntɛnde, we di pikin gɛt blɔd na in bren ɔ in bon dɛn brok, dɔktɔ dɛn kin tink se dɛn de trit di pikin bad. If yu no se yu pikin de na say we sef, bɔt dɛn de sho dɛn sik ya, fɔ tru, tɔk to yu dɔktɔ ɛn tɔk bɔt aw fɔ du tɛst fɔ Menkes Disease.

Wetin na Ɔksipital Ɔn Sindrom (OHS)?

Occipital Horn Syndrome (OHS) na wan kayn sik wae nɔr kin pasmak pan Menkes.Dis min se di sayn dɛm nɔr kin so bad. Dɛn kin no am we pikin ol bitwin 5 ɛn 10 ia.

Apat frɔm di smɔl smɔl sayn dɛm fɔ Menkes Disease, pikin dɛm wae gɛt OHS kin gɛt bak:

• כksipital hכn dεm: dis na strכkchכ dεm we lεk hכn we dεn fכm bay di kכlsyכm dεposit dεm na di bכs pat pan di sכkul.
• Dysautonomia: Na prɔblɛm wit di nervous system wae kin afɛkt tin dɛm lɛk blɔd prɛshɔn ɛn bɔdi balans.
• Joint ɛn skin we de lus.
• Smɔl prɔblɛm dɛn we kin apin we pɔsin ebul fɔ tink.

Wetin kin mek pɔsin gɛt Menkes Disease?

As wi bin dɔn tɔk, Menkes Disease na sik we pɔsin kin gɛt frɔm in jɛnɛtiks . Dat min se, i de de we dɛn bɔn am. Na lɛk tu-tɛd pan di kes dɛm, na wan fɔlt jin we dɛn gɛt frɔm di mama kin mek am . insay lεk wan tכd pan di kes dεm, di sik kin kכz fכ nyu mכtεshכn dεm na di jin we dεn kכl ATP7A.

di jin we de mek dis sik dεn kכl am `ATP7A`, we de afekt di prodakshכn fכ wan protin we de kכntro di כmכnt fכ kכpa na wi bכdi. so we dis `ATP7A` jin nכ de wok fayn, wi bכdi nכ kin `transpכt` kכpa fayn fayn wan.

Bɔy pikin dɛn kin gɛt dis jin bikɔs Menkes Syndrome na wan sik we dɛn kɔl X-linked genetic disorder . Bɔy pikin dɛn gɛt wan X kromozom. So if wan jin we nɔ fayn de pan am, di sik go bigin. di gyal pikin dεm gεt tu X kromozom dεm, so fכ mek dεn gεt di sik, dεn tu difεktiv jin dεm fכ gεt dεm.

Aw dɔktɔ dɛn kin no se pɔsin gɛt Menkes Disease?

Fɔ no if i gɛt Menkes Disease, di dɔktɔ go fɔs chɛk di pikin. Speshali, dɛn go pe atɛnshɔn to brittle, curly hair . Dɛn go aks bak bɔt di sayn dɛm ɛn di famili mɛdikal histri. Dɛn kin tɛst di pikin bak fɔ:

• Blɔd tɛst: Dɛn kin tek blɔd sɛmpul fɔ chɛk fɔ si if di kɔpa, sɛruloplasmin (wan prɔtin we de kɛr kɔpa), ɛn katekolamin, ɔmon dɛn we de ɛp fɔ kɔntrol di mɔsul dɛn we de muv ɛn aw i de fil, nɔ bɔku.
• CT skan ɔ X-ray: Dis go luk fɔ smɔl smɔl bon dɛn we twist (wormian bon) na di pikin in skel. dis kin bi fכ prכblεm wit di kכnektiv tisu we kכz fכ kכpa we nכ de.
• Skin biopsy: Dɛn kin tek wan rili smɔl sampul pan di pikin in skin ɛn chɛk am ɔnda maykroskɔp fɔ chɛk aw di pikin in bɔdi de yuz kɔpa fayn fayn wan.
• Ultrasound: Dɛn kin yuz dis fɔ chɛk di blad. divεrtikul, we na paus dεm we de kכmכt na di blad, na wan kכmכn kכmplikεshכn fכ Menkes Syndrome.
• Yurin tεst: Dis tεst de chεk fכ inkrεs lεvεl fכ sכm asid dεm (HVA/VMA) na di urine. di amoun fכ dεn asid dεm ya de difrεn dipכnt pan di aktiviti fכ wan εnzym we dipεnd pan kכpa.

Mi pikin kin gɛt jenɛtik tɛst fɔ Menkes Disease?

Risach pipul dɛm stil de tray fɔ fɛn nyu we fɔ no di Menkes sik kwik kwik wan. jεnεtik tεst we de luk fכ mכtεshכn dεm na di ATP7A jin na wan we fכ du dis.

Aw dɔktɔ dɛn kin trit Menkes Disease?

Fɔ mek di tritmɛnt wok fayn, dɛn fɔ bigin am insay 25 to 28 dez afta dɛn bɔn am . di sakses fכ tritmεnt dipכnt pan aw di mכtεshכn na di `ATP7A` jin siriכs.

Dɔktɔ dɛn kin gi pikin dɛn we gɛt Menkes sik wan kɔpa we dɛn kɔl kɔpa histidin as injɛkshɔn we dɛn kin put ɔnda di bɔdi . Di gol fɔ dis tritmɛnt na fɔ mek di kɔpa we de na di blɔd bɔku. I kin ɛp bak fɔ ridyus di damej na di nervɔs sistɛm, ridyus di tin dɛn lɛk we i de sik, ɛn mek di pikin in layf lɔng.

Aw a go ebul fɔ kɔntrol di sik dɛn we mi pikin gɛt?

Bikɔs dɛn stil nɔr gɛt mɛrɛsin fɔ Menkes Disease, dɔktɔ dɛn kin pe atɛnshɔn pan aw fɔ kɔntrol di sik dɛn we de sho se i sik. Di mɛdikal tim we de trit yu pikin kin du tin dɛn lɛk:

• Fɔ gi mɛrɛsin fɔ kɔntrol di sik we pɔsin kin gɛt.
• di εnteral nyutrishכn na we dεn de gi di it tru wan tכb fכ εp di pikin fכ abzכp di nyutriεnt dεm bεtε.
• Rikɔmɛnd fɔ gɛt fizik tritmɛnt ɔ ɔkupeshɔn tɛrapi .
• Fɔ gi yu mɛrɛsin fɔ mek yu fil pen .

Wetin na di fiuja fɔ pipul dɛm wae gɛt Menkes Disease?

If dɛn nɔ bigin fɔ trit am kwik, pikin dɛn we gɛt Menkes Disease kin liv less dan tri ia .

Ivin wit tritmɛnt, de sayn dɛm fɔ Menkes Disease kin wɔs as tɛm de go. Ivin bɔy pikin dɛm wae gɛt dis sik wae de gɛt tritmɛnt kin liv fɔ 10 ia ɔr less.

Yu tink se dɛn kin ebul fɔ avɔyd Menkes Disease?

Bɔt i sɔri fɔ no se, dɛn nɔ kin ebul fɔ stɔp Menkes Disease . If yu gɛt famili ɔ pikin we gɛt dis sik, i impɔtant fɔ tɔk to dɔktɔ ɛn gɛt kɔyl fɔ yu jɛnɛtiks .

Bifo yu gɛt bɛlɛ, yu kin du wan jenɛtik tɛst (Jɛnɛtik tɛst / DNA tɛst) fɔ no if yu gɛt di jin we de mek yu gɛt Menkes Disease. Dis infɔmeshɔn kin ɛp yu we yu de plan fɔ famili.

Ustɛm yu fɔ go to dɔktɔ bɔt Menkes Disease?

If yu tink se yu pikin gɛt sayn dɛn fɔ Menkes Disease, go to dɔktɔ wantɛm wantɛm . If yu no am kwik, dat kin mek di pikin dɛn we gɛt dis sik gɛt bɛtɛ layf.

Bikɔs di Menkes Disease de kɔmɔt frɔm di X-kromozom, uman dɛn kin du DNA tɛst fɔ no if dɛn gɛt di jin we de mek di sik. I fayn fɔ tɔk to yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks bifo yu bɔn pikin.

If yu pikin gɛt Menkes Disease, tɔk to yu dɔktɔ bɔt di bɛst we fɔ kɔntrol di sayn dɛm ɛn fɔ mek yu gɛt bɛtɛ layf. Pan ɔl we no mɛrɛsin nɔ de fɔ Menkes Disease, dɔktɔ dɛn de wok tranga wan fɔ fɛn nyu we fɔ no ɛn trit di sik. Dɔn bak, fɔ jɔyn sɔpɔt grup fɔ mama ɛn papa dɛn we gɛt pikin dɛn we gɛt Menkes Disease na fayn we fɔ sheb ɛkspiriɛns ɛn fɔ gɛt kɔmfɔt.

Di tin dɛn we impɔtant pas ɔl fɔ mɛmba (Take-Home Message) .

Okay, so lɛ wi sɔma sɔm pan di tin dɛn we yu nid fɔ mɛmba frɔm wetin wi dɔn tɔk bɔt:

• Menkes Disease na wan jenɛtik disɔda wae de mek di bɔdi nɔr de yuz kɔpa fayn fayn wan.
• Dis kin apin mɔ pan bɔy pikin dɛn .
• If yu pikin in ia de kɔl strenj wan, i dɔn gɛt layt kɔlɔ, i dɔn lɔs, ɔ i nɔ de gro sloslo, go to dɔktɔ wantɛm wantɛm.
• I rili impɔtant fɔ no di sik ɛn bigin fɔ trit am kwik . I bεst if dεn stat tritmεnt insay di fכs 4 wik dεm we dεn bכn am.
• Pan ɔl we dɛn nɔ ebul fɔ mɛn am ɔl, tritmɛnt dɛn de fɔ kɔntrol di sik dɛn ɛn fɔ mek i liv lɔng .
• If yu famili gɛt dɛn sik ya, i go fayn fɔ mek yu aks fɔ advays bɔt yu jɛnɛtiks .

A op se dis infɔmeshɔn go ɛp yu. If yu gɛt ɛni dawt, i nɔ kin ɛva let fɔ tɔk to dɔktɔ.

` Menkes sik, Kɔpa, Jɛnɛtik sik, Pikin sik, Nɛvɔ sistɛm, Kɔl ia, ATP7A