Oh, wetin bad wit mi bebi? Lan bɔt di sik we dɛn kɔl Walker-Warburg Syndrome

As mama, aw yu go fil bad ɛn fred if dɛn bɔn yu smɔl pikin wit strenj lukin-grɔn, we nɔ gɛt layf, ɔ we de swɛla, ɔ if di dɔktɔ dɛn se prɔblɛm de wit di divɛlɔpmɛnt na in yay ɔ in bren? Sɔmtɛm di tin we kin mek dis apin kin bi wan sik we nɔ kin apin so ɔltɛm, bɔt we kin rili siriɔs, we kin de we dɛn bɔn am. Tide wi go tɔk bɔt wan pan dɛn kayn sik ya, we dɛn kɔl Walker-Warburg Syndrome.

Wetin na di sik we dɛn kɔl Walker-Warburg Syndrome?

Fɔ tɔk am simpul wan, Walker-Warburg Syndrome na wan jenɛtik kɔndishɔn we kin afɛkt di mɔsul dɛn na yu pikin in bɔdi, mɔ di bren ɛn in yay. I de pan wan grup fɔ sik dɛn we dɛn kɔl congenital muscular dystrophies, we kin bigin we dɛn bɔn am ɔ we i smɔl ɛn smɔl smɔl i kin wik di mɔsul dɛn as tɛm de go. Infakt, dis sik kin mek pikin dɛn gɛt sayn dɛn we kin mek dɛn day ɛn i sɔri fɔ no se i kin mek dɛn layf shɔt. Dis kin tan lɛk se yu de mek yu fred, bɔt i impɔtant fɔ no wetin i bi.

Wetin na distroglycanopathy? Yu tink se kɔnekshɔn de?

Yu go dɔn yɛri we dɛn kɔl Walker-Warburg Syndrome Dystroglycanopathy . Nɔ wɔri, a go ɛksplen am.

Walker-Warburg syndrome na wan kayn sik we dɛn kin bɔn wit mɔskul distrofi. Muscular dystrophy na wan grup fɔ sik dɛn we kin afɛkt di mɔsul dɛn na pikin in bɔdi. sεvεra tכp dεm fכ dεn mכskul distrofi dεm ya dεn kכl dεm distroglycanopathies. dat min se dεn kכl dεm dis nem di mכskul dεstrofi dεm we kכz fכ difεkt dεm na di jin dεm we de prodyuz di protin distroglycan. Dɛn kin tek Walker-Warburg syndrome as di kayn we we rili siriɔs, ɔ siriɔs, pan dis dystroglycanopathies grup.

Aw dis sik kin kɔmɔn? Udat go ebul fɔ gɛt am?

Walker-Warburg Syndrome na wan sik wae nɔr kin bɔrku. Ɔlsay na di wɔl, dɛn se na lɛk wan pan ɛvri 60,500 pikin dɛn we dɛn jɔs bɔn kin gɛt dis sik. Bikɔs na bikɔs ɔf wan jenɛtik muteshɔn, ɛnibɔdi kin gɛt dis sik. Dis min se di kɔlɔ, rilijɔn, ɛn ɔda tin dɛn nɔ gɛt natin fɔ du wit am.

Mi pikin kin gɛt dis sik?

Yɛs, yu pikin kin gɛt di sik we dɛn kɔl Walker-Warburg Syndrome.Dis na aw i kin apin: We di mama ɛn papa ɔl tu gɛt wan pan di jin dɛn we dɔn chenj we kin mek dɛn gɛt Walker-Warburg Syndrome, we min se dɛn ɔl tu gɛt wan kɔpi fɔ di jin we nɔ fayn, di pikin go jɔs gɛt di sik if in mama ɛn papa ɔl tu pas di jin to di pikin di tɛm we i gɛt bɛlɛ. dis patεn fכ inhεrit dεn kכl am כtosom rεsεsiv inhεritεns.

Imajin, if yu pikin gɛt wan kɔpi nɔmɔ pan dis jin we dɔn chenj frɔm wan mama ɔ papa, di pikin nɔ go sho di sayn dɛn, bɔt di pikin go gɛt di sik. Dis min se di pikin in pikin dɛn tumara bambay kin gɛt sɔm risk fɔ gɛt dis sik, if di ɔda mama ɔ papa sɛf na pɔsin we gɛt dis sik.

Aw Walker-Warburg Syndrome kin afɛkt mi pikin in bɔdi?

Dis sik kin mɔs afɛkt di mɔsul dɛm na yu pikin in bɔdi. Yu kin notis chenj na yu pikin in mɔsul dɛn jɔs afta dɛn bɔn am. Di pikin in bɔdi kin rili flɔp, lɛk dɔl we nɔ gɛt layf , bikɔs di mɔsul dɛn nɔ gɛt bɛtɛ mɔsul. Apat frɔm di mɔsul dɛm, dis sik kin afɛkt bak di we aw yu pikin in bren ɛn in yay de divɛlɔp ɛn wok. Yu pikin kin gɛt prɔblɛm wit in yay, i kin delay fɔ divɛlɔp, ɛn i kin gɛt prɔblɛm wit in maynd. Dɔktɔ dɛn kin tray fɔ kɔntrol dɛn sik ya wit tritmɛnt ɛn mek di pikin nɔ liv lɔng.

Wetin na di sayn dɛm fɔ Walker-Warburg Syndrome?

Walker-Warburg Syndrome kin mek yu pikin gɛt sɔm kayn sik wae kin afɛkt yu pikin in mɔsul dɛm, in bren, ɛn in yay. Di kayn we aw dɛn sik ya kin tranga kin difrɛn. Dɛn kin si dɛn we dɛn bɔn am ɔ we dɛn smɔl. Sɔm sayn dɛn kin mek pɔsin in layf de pan denja.

Di sayn dɛm we gɛt fɔ du wit di mɔsul dɛm

Di sayn dɛm fɔ Walker-Warburg syndrome kin afɛkt di mɔsul dɛm we dɛn kin yuz fɔ muv na pikin.

• we dεn bכn pikin, dεn kin tan lεk "floppy" lεk dכl we nכ gεt layf bikoz fכ di mכsul tכn dεm we lכw (hypotonia) . Dis kin mek i nɔ izi fɔ di pikin fɔ es in ed, in an, ɛn leg.
• Dis sik kin mek di pikin in mɔsul dɛn wik smɔl smɔl , we min se di sik kin wɔs as tɛm de go.
• Bikɔs di pikin in mɔsul dɛn nɔ de wok fayn, i kin at fɔ mek i sok milk we i smɔl . Dɛn nɔ kin ebul fɔ sok ɔ swɛla fayn.

Di sayn dɛm we gɛt fɔ du wit di bren

Walker-Warburg Syndrome kin afɛkt di we aw yu pikin in bren de divɛlɔp. Di sayn dɛm wae gɛt fɔ du wit yu bren kin bi:

• Lissencephaly (smooth bren) na wan kכndyushכn we i tan lεk se di bren gεt bכmp na in sεf, we nכ gεt di nכmal fold כ grov dεm. In ɔda wɔd dɛn, i tan lɛk se di say we di bren de ɔp smɔl smɔl.
• Fluid we de bɔku na di bren(Hydrocephalus - wata ed) Dis kin mek di ed big.
• divεlכpmεnt abnכmaliti dεm na di bren stεm εn sεribεl כ wan kכndyushכn we dεn kכl sεribεl sist (Dandy-Walker malformation) .
• Seizures , dat na, kɔndishɔn dɛn we tan lɛk seizure.

Dɛn tin ya we kin afɛkt yu pikin in bren kin mek i nɔ ebul fɔ gro fayn ɛn i kin mek i nɔ ebul fɔ tink gud wan .

Di sayn dɛm we gɛt fɔ du wit di yay

Walker-Warburg Syndrome kin afɛkt di divɛlɔpmɛnt fɔ yu pikin in yay ɛn mek yu gɛt sɔm sayn dɛm lɛk:

• Smɔl yay (Microphthalmia) ɔ big yay (Buphthalmos) .
• Klaud na di yay, we min se di lens na di yay dɔn tɔn wayt (Cataracts) .
• di delay we di mεsej dεm de transmit tru di optik nεv dεm we de sεnd mεsej frכm di yay to di bren.
• I nɔ izi fɔ si klia wan (Vision impairment) .

Wetin na di rizin fɔ dis? Wetin mek dis de apin?

Walker-Warburg Syndrome na bikɔs ɔf wan jenɛtik muteshɔn . Dɛn dɔn no pas wan duzin jin dɛn we kin mek pɔsin gɛt dis sik, ɛn i kin bi se ɔda wan dɛn de we dɛn nɔ no. Sɔm pan di men jenɛtik muteshon dɛm wae kin mek dis sik pan pas af pan ɔl pipul dɛm wae gɛt Walker-Warburg Syndrome na:

• `POMT1`
• `POMT2`
• `CRPPA` (we dɛn bin de kɔl fɔs `ISPD`)
• `FKTN`
• `FKRP`
• `BIG1`
• `POMGNT1`
• `ISPD`
• `GTDC2`
• `DAG1`

dis jin dεm de ambɔg di prכsεs fכ ad shuga mכlikul dεm to wan protin we dεn kכ l alfa-dystroglycan , we dεn kכ l glycosylation . we dis glycosylation prכsεs nכ de apin fayn fayn wan, di pikin in mכsul fayb dεm nכ kin mεnten dεn strכkchכ na di bכdi. dis protin dεm de afekt bak di we aw di nεv sεl dεm na di bren de muv we di εmbrayo stej, na dat de mek di bren kכndyushכn we dεn kכl lissencephaly we wi bin dכn tכk bכt.

Fɔ tɔk am simpul wan, di mɔsul dɛn fɔ pikin we gɛt Walker-Warburg Syndrome kin tayt ɛn lus ɔltɛm. As tɛm de go, dɛn mɔsul fayv ya kin pwɛl ɛn wik te dɛn nɔ ebul fɔ wok igen.

Apat frɔm dat, di sik we dɛn kɔl Walker-Warburg Syndrome kin ambɔg di we aw di nyuron dɛn kin travul na pikin in bren. nכmal wan, nyuron dεm fכ stכp we dεn rich usay dεn de go. כltu di nyuron dεm we dεn afekt de travul bak insay di wata we de rawnd di pikin in bren. Dis kin gɛt big impak pan di divɛlɔpmɛnt na di bren.

Aw dɛn kin no se pɔsin gɛt Walker-Warburg Syndrome?

Yu dɔktɔ kin bigin fɔ tɛst fɔ Walker-Warburg Syndrome we yu gɛt bɛlɛ let, ɛn dɛn kin kɔnfyus di sik afta dɛn bɔn di pikin.

• We dɛn du ɔltra saund skan we uman gɛt bɛlɛ, i kin no di sayn dɛm, mɔ di wan dɛn we de afɛkt di pikin in bren.
• afta dεn bכn di pikin, imej tεst dεm lεk CT skan εn MRI kin gi klia pikchכ fכ di pikin in bren εn ases di kכndyushכn.

Bɔku tɛst dɛn de fɔ no if pɔsin gɛt Walker-Warburg Syndrome:

• di mכsul tisu bayopsi na tεst fכ si if di pikin in mכsul fayb dεm hεlty. Dis min se yu fɔ tek wan smɔl mɔsul ɛn chɛk am.
• Wan blɔd tɛst fɔ chɛk di lɛvɛl we di Kriatin Kinase (CK) de na di blɔd. CK na εnzym we de kכmכt na di bכdi we di mכsul tisu dεm brok dכn. di ay lεvεl dεm fכ CK de sho se di mכsul dεm dεm dεm.
• Wan ay ɛgzam fɔ chɛk fɔ sayn dɛm fɔ Walker-Warburg Syndrome na di pikin in yay.
• Wan jenɛtik blɔd tɛst fɔ no di jin we dɔn chenj we de mek di sik.

Wetin na di tritmɛnt dɛm fɔ dis?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl Walker-Warburg Syndrome. So, di tritmɛnt de mɔ fɔ pul di sayn dɛm. Di tritmɛnt we dɛn kin pik kin difrɛn fɔ ɛni pikin we dɛn no se gɛt dis sik, i kin dipen pan di pikin in kɔndishɔn. Di tritmɛnt we dɛn kin pik kin bi:

• Ɔpreshɔn fɔ pul di wata we pasmak na di bren (haydrosɛfalɔs).
• Gi mɛrɛsin fɔ mek yu nɔ gɛt sik.
• Fizik tɛrapi fɔ mek di mɔsul dɛn strɔng.
• If i nɔ izi fɔ yu fɔ it, if yu put tin fɔ it , dat kin ɛp yu.

Di gol fɔ tritmɛnt fɔ Walker-Warburg Syndrome na fɔ mek dɛn nɔ gɛt di sik dɛn we de mek i day ɛn ɛp fɔ mek di pikin liv lɔng.

Wan we de fɔ mek yu nɔ gɛt di sik we dɛn kɔl Walker-Warburg Syndrome?

Walker-Warburg Syndrome na wan sik wae de kam wit jεnεtiks, so no we nɔr de fɔ avɔyd am. If yu de plan fɔ gɛt bɛlɛ ɛn yu want fɔ no di prɔblɛm we yu gɛt fɔ bɔn pikin we gɛt wan sik we yu gɛt wit yu jɛnɛtiks, i go fayn fɔ mek yu tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks ɔ aw fɔ advays yu bɔt yu jɛnɛtiks .

If mi pikin gɛt dis sik, wetin a fɔ ɛkspɛkt?

Walker-Warburg Syndrome na wan sik we de go bifo. Dis min se de sik kin nɔr kin bɔrku fɔs, bɔt dɛn kin wɔs as tɛm de go. Dis kin tan lɛk se i rili sɔri, bɔt pikin dɛn we gɛt dis sik kin gɛt shɔt layf , bɔku tɛm na te dɛn smɔl. Yu pikin in dɔktɔ go gi yu tritmɛnt fɔ mek i nɔ gɛt di sik dɛn we go mek i day ɛn fɔ mek yu pikin liv lɔng. Mɛmba se, no mɛrɛsin nɔ de fɔ dis sik.

Wit yu pikin in diagnosis, e fayn fɔ tek kia ɔf yusɛf. I kin fayn fɔ yu ɛn yu famili fɔ tɔk to pɔsin we de advays yu bɔt yu pikin fɔ ɛp yu fɔ ɔndastand ɛn bia wit di tin dɛn we yu kin no bɔt yu pikin ɛn di tritmɛnt we dɛn kin pik. Pɔsin we sabi bɔt mental wɛlbɔdi biznɛs kin ɛp yu bak fɔ rɛdi fɔ ɛn bia wit di lɔs we kin kam wantɛm wantɛm we dɛn no se yu pikin gɛt di sik. We pɔsin day ɛn sɔpɔt grup dɛn kin rili kɔrej famili dɛn insay dɛn tranga tɛm ya.

Ustɛm a fɔ kɛr mi pikin go to dɔktɔ?

If yu pikin sho sɔm sayn dɛm fɔ Walker-Warburg Syndrome, mɔ we i nɔ ebul fɔ it , kɔl yu pikin in dɔktɔ wantɛm wantɛm. Dɔn bak, mek yu dɔktɔ no if yu pikin in sik kam bak wantɛm wantɛm ɔ i wɔs , ilɛksɛf di tritmɛnt dɔn wok fayn fɔ mek i nɔ gɛt di sik.

Yu pikin de pan denja fɔ gɛt sik we de mek i sik . If yu si yu pikin nɔ no natin fɔ sɔm tɛm, i de shek shek ɔ muf we i nɔ ebul fɔ kɔntrol, ɔ i tan lɛk se i kɔnfyus, i de fred, ɔ i nɔ de rɛst, go na di ɔspitul imejensi rum wantɛm wantɛm.

Us kwɛstyɔn dɛn a fɔ aks mi pikin in dɔktɔ?

Yu kin gɛt bɔku kwɛstyɔn dɛn insay dis tranga tɛm. Tray fɔ aks yu pikin in dɔktɔ dɛn kwɛstyɔn ya:

• Yu tink se dɛn nid fɔ du ɔpreshɔn pan mi pikin?
• Wetin na di sayd ɛfɛkt dɛm we di tritmɛnt dɛm kin gɛt?
• Wetin a fɔ du if mi pikin gɛt sik we de mek i sik?
• Aw ɔltɛm a fɔ kam wit mi pikin fɔ mek dɛn chɛk mi wɛlbɔdi?

Fɔ no se yu nyu bɔbɔ gɛt wan sik we de mek i nɔ ebul fɔ liv ful layf, dat kin rili mek i fil bad. Wit dis chalenj diagnosis, yu dɔktɔ go gi yu tritmɛnt fɔ mek yu nɔ gɛt sik dɛn we go mek i day ɛn fɔ mek yu pikin liv lɔng. Di sik we yu pikin gɛt kin rili fil bad fɔ yu ɛn yu famili, so mek shɔ se yu gɛt di sɔpɔt we yu nid. Bɔku pipul dɛn kin si se i kin ɛp dɛn fɔ no mɔ bɔt aw fɔ kia fɔ dɛn pikin. Pɔsin we sabi bɔt mɛntɛl hεlth kin ɛp yu fɔ kɔntrol strɛs, rɛdi fɔ ɛn bia wit wan tin wae yu nɔr bin de ɛkspɛkt fɔ lɔs. If yu nid ɛp, tɔk to yu dɔktɔ ɛn sɔpɔt yu.

Sɔma: Mɛsej we dɛn kin kɛr go na os

• Walker-Warburg Syndrome na wan sik wae nɔr kin bɔrku bɔt wae kin rili siriɔs.
• Dis kin afɛkt di pikin in mɔsul dɛn, in bren, ɛn in yay mɔ .
• Di sayn dɛm na di mɔsul dɛm we wik (flɔp pikin), di bren we nɔ fayn (lissencephaly, hydrocephalus), epilepsy, ɛn yay prɔblɛm .
• Dis kin apin bikɔs ɔf wan prɔblɛm we dɛn gɛt frɔm dɛn mama ɛn papa dɛn ɔl tu na in jɛnɛtiks .
• Pan ɔl we no mɛrɛsin nɔ de fɔ mɛn am, tritmɛnt dɛn de fɔ kɔntrol di sik dɛn ɛn fɔ mek pɔsin liv lɔng .
• I rili impɔtant fɔ mek mama ɛn papa ɛn famili kɔntinyu fɔ gɛt strɔng maynd ɛn gɛt di sɔpɔt we dɛn nid insay dis kayn prɔblɛm. Jɛnɛtik kɔyl ɛn mental wɛlbɔdi sɔpɔt go ɛp pan dis.

A op se dis infɔmeshɔn dɔn ɛp yu fɔ ɔndastand sɔm kayn tin bɔt dis sik we nɔ kin apin so ɔltɛm. Mɛmba se nɔto yu wangren de, ɛn dɔktɔ ɛn advaysa dɛn rɛdi fɔ ɛp yu.

` Walker-Warburg sindrom, jεnεtik sik, mכsul wik, bren malfכmeshכn, yay sik, kכnεnital mכsul distrofi, pikin hεlth