Yu pikin gɛt prɔblɛm wit in bren we nɔ kin apin so ɔltɛm? (Miller-Dieker Sindrom) we dɛn kɔl di sik we dɛn kɔl Miller-Dieker Syndrome .

Tide wi go tɔk bɔt wan tɔpik we rili rare ɛn we rili impɔtant fɔ mama ɛn papa dɛn. Dis na wan sik wae dɛn kɔl Miller-Dieker Syndrome. Dis na jεnεtik kכndyushכn we de afekt di divεlכpmεnt fכ yu pikin in bren. Sɔntɛm yu nɔ bin dɔn yɛri bɔt dis nem bifo, bɔt fɔ no bɔt dɛn tin ya kin rili impɔtant, mɔ fɔ nyu mama ɛn papa dɛn.

Wetin na di sik we dɛn kɔl Miller-Dieker Syndrome?

Fɔ tɔk am simpul wan, Miller-Decker syndrome na wan sik we nɔ kin apin so ɔltɛm we di ɔda pat na yu pikin in bren we dɛn kɔl di sɛribra kɔtɛks , kin smol. nכmal wan, insay hεlty bren, dis pat gεt bכku kכmpleks fold dεm, wrinkles εn grov dεm. I tan lɛk wan walnut. Bɔt pan pikin dɛn we gɛt dis sik, dɛn fold ɛn grov dɛn de nɔ kin fɔm fayn.

Pikin we gɛt dis sik kin sho sɔm sayn dɛn na in bɔdi we dɛn bɔn am. if nכto dat, siriכs divεlכpmεnt εn nyurolכjik prכblεm dεm kin bigin fכ apia arawnd 6 mכnt. Bɔku tɛm, dis kin apin bikɔs di kromozom dɛn kin chenj we dɛn nɔ want. Bɔt sɔm tɛm dɛn de, dis sik kin kam bak bikɔs ɔf wan jin we dɛn gɛt frɔm in mama ɔ papa.

Bɔt i sɔri fɔ no se, dɛn stil nɔ gɛt ɛni mɛrɛsin fɔ di sik we dɛn kɔl Miller-Decker syndrome. Na wan sik wae de mek pɔrsin nɔr de liv bɛtɛ layf, bɔrku pikin dɛn kin day bifo dɛn rich 2 ia.

Dis sik bin fɔs tɔk bɔt am insay di 1960 dɛm na tu dɔktɔ dɛm, Jems Q. Mila ɛn H. Dayka. Na dat mek dɛn kɔl am "Miller-Dieker syndrome."

Wetin na ɔda nem dɛn fɔ dis?

Yu dɔktɔ kin yuz di mɛrɛsin nem lissencephaly fɔ Miller-Decker syndrome. Lissencephaly min "smol bren." Yu kin yɛri dɛn nem dɛn ya bak:

• Klasik lisɛnsɛfali sindrom
• MDS
• Miller-Dieker lisɛnsɛfali sindrom

Aw dis sik kin kɔmɔn?

Miller-Decker syndrome na wan sik we nɔ kin apin so ɔltɛm . I kin afɛkt lɛk wan pan ɛvri 100,000 pikin dɛn we dɛn jɔs bɔn. Dis min se ivin na Sri Lanka, i nɔ kin izi fɔ fɛn pikin we gɛt dis sik.

Wetin na di rizin fɔ dis?

Pikin dεm we gεt Miller-Decker syndrome gεt wan pat pan di kromozom 17 we nכ de.Na dɛn de. Dat min se dɛn dɔn lɔs wan ɔ mɔ jin dɛn. Tink bɔt am lɛk se wi gɛt smɔl instrɔkshɔn buk dɛn na wi bɔdi, we wi kɔl kromozom. Insay dɛn kromozom ya na di jin dɛn, we na di kɔd dɛn we de kɔntrol ɔltin na wi bɔdi. So, dis lכs fכ jin dεm kin apin bכku tεm randomly, dat na fכ no rizin. dis lכs fכ di jin dεm kin apin insay di sεl dεm, insay di eg, כ di tεm we di pikin de divεlכp afta i bכn na di bεlε.

Insay bɔku famili, we dɛn bɔn pikin we gɛt dis sik, nɔbɔdi nɔ bin dɔn gɛt dis sik bifo. Dat min se no famili istri nɔ de.

Bɔt sɔntɛnde, insay lɛk wan pan ɛvri 10 famili , wan pan di mama ɛn papa kin gɛt wan jin we chenj smɔl na di kromozom 17, we min se dɛn arenj am di rɔng ɔda. Dɔktɔ dɛn kɔl dis balans translokeshɔn . biכs כl di jin dεm na dis kromozom de, we min se nכ jin dεm de mis, di mama כ di papa nכ go sho di simptom dεm fכ Miller-Decker syndrome. Bɔt we mama ɔ papa we gɛt dis kayn ‘translokeshɔn’ gɛt pikin, di pikin kin lɔs sɔm pat dɛn pan di jin bikɔs ɔf di arenjmɛnt we nɔ fayn.

dis jin dεfichεshכn de afekt di we aw di bren de divεlכp we di pikin stil de insay di bεlε. As wi bin dɔn tɔk, di ɔda pat na di bren (di sɛribra kɔtɛks) nɔ gɛt di rayt fold ɛn grov, ɛn da pat de kin smol.

Wetin na di sayn dɛm we de sho se yu gɛt dis sik?

Miller-Decker syndrome kin afɛkt di pikin in bɔdi ɛn in maynd . Aw di sik kin tranga kin dipen pan aw di pikin in bren nɔ machɔ.

Di pikin kin gɛt sɔm kayn sik lɛk:

• I nɔ kin izi fɔ yu fɔ blo
• Divεlכpmεnt delay - Dis min se yu de let fכ du tin dεm we fit fכ in ej.
• I nɔ kin izi fɔ swɛla (dysphagia) .
• Prɔblɛm dɛn fɔ it
• lכw mכsul tכn (hypotonia) - dis min se di mכsul dεm na di bכdi wik εn de fכm.
• Di mɔsul dɛn stiff ɔ spasticity
• Seizures - Na kondishɔn wae kin mek yu gɛt fit ɔltɛm.
• Slow fyzikal divεlכpmεnt

Kכntribyushכn dεm we yu kin si pan aw di pikin de luk

Bɔku tɛm, pikin dɛn we gɛt Miller-Decker syndrome kin gɛt smɔl ed pas aw dɛn kin gɛt. Dɛn kɔl dis maykrosɛfali . Dɛn kin gɛt sɔm difrɛn tin dɛn bak na dɛn fes:

• Dɛn kin sɛt di yes dɛn dɔŋ pas aw i kin bi ɛn dɛn kin gɛt shep we nɔ kɔmɔn.
• Di fɔrɛst de kɔmɔt na do fɔ go bifo.
• Di nos smɔl ɛn i kin tɔn ɔp.
• i tan lεk se di midul pat pan di fes dכn sink insay (midface hypoplasia) .
• Di ɔp lip kin wayd, ɛn di ɔnda jaw kin smɔl.

Wetin na di prɔblɛm dɛn we kin apin?

Sɔm pikin dɛn kin gɛt ɔda prɔblɛm dɛn bak we dɛn bɔn dɛn. Fɔ ɛgzampul:

• di at kכndishכn dεm we dεn bכn wit - at sik dεm we de de we dεn bכn am.
• di finga dεm kin kכl כ bεn (clinodactyly) .
• Prɔblɛm dɛn na di kidni.
• sכm pan di bכdi כgan dεm kin de na do na di bכdi (omphalocele) .

Aw dɛn kin no dis sik?

Sɔm tɛst dɛn we dɛn kin du we uman gɛt bɛlɛ, lɛk fɔ du ɔltra saund skan , kin ɛp yu dɔktɔ fɔ si if yu pikin in bren nɔ de gro fayn ɔ ɔda sayn dɛn we de sho se i gɛt dis sik. If yu tink se dis na dis, yu dɔktɔ kin tɛl yu fɔ tek jenɛtik amniocentesis ɔ chorionic villus sampling (CVS) . dis tεst dεm kin kכnfכm if yu pikin gεt di jεnεtik chenj dεm we kכnεkt wit Miller-Decker syndrome.

Afta dɛn dɔn bɔn di pikin, yu ɔ yu dɔktɔ go notis sɔm pan di patikyula tin dɛn we wi bin dɔn tɔk bɔt na in fes. Ɔ, di pikin kin bigin fɔ gɛt sik dɛn we de mek i sik . bכku tεm, dεn pikin ya nכ de pas di pikin divεlכpmεnt maylston dεm we na tri to fayv mכnt - lεk fכ sidon כp εn rכl ova.

Wetin na di tritmɛnt dɛm fɔ dis?

As wi bin dɔn tɔk, i sɔri fɔ no se nɔbɔdi nɔ de fɔ mɛn di sik we dɛn kɔl Miller-Decker syndrome . Dis na tin we de mek pɔsin nɔ ebul fɔ liv in layf. Di tritmɛnt na fɔ kɔntrol di sik dɛn lɛk we i de sik ɛn fɔ mek di pikin fil fayn as i pɔsibul. Bikɔs i nɔ kin izi fɔ swɛla, sɔm pikin dɛn kin nid fɔ gi dɛn tin fɔ it tru wan tiub (tiub fidin / ɛntaral nyutrishɔn) .

Wetin yu go du if yu pikin gɛt dis sik?

Fɔ kia ɛn mɛn pikin we gɛt siriɔs sik lɛk dis we de mek i nɔ gɛt layf igen, na wok we rili at fɔ du . Yu kin gɛt bɔku wɔri, strɛs, ɛn ivin pwɛl at . So, i rili impɔtant fɔ tek kia ɔf yu bɔdi ɛn maynd wɛlbɔdi we yu de kia fɔ yu pikin.

Yu kin gɛt ɛp frɔm tin dɛn lɛk:

• Fɛn di sɔpɔt savis dɛm we yu pikin nid, lɛk rihabiliteshɔn savis, wɛlbɔdi biznɛs na os, ɛn ɛp divays dɛm.
• Join wan sɔpɔt grup wit mama ɛn papa dɛn we gɛt pikin dɛn lɛk dis. I go ɛp yu fɔ lɛ yu nɔ fil se yu wangren de ɛn yu kin lan frɔm di tin dɛn we ɔda pipul dɛn kin du.
• Lan bɔt yu pikin in sik ɛn ɛni sayn we gɛt fɔ du wit am.
• Mek tɛm fɔ yusɛf . Tek tɛm blo, du sɔntin we yu lɛk.
• Fɛn wɛlbɔdi we fɔ ridyus strɛs. I kin tan lɛk fɔ go waka wit yu padi ɔ fɔ bigin wan nyu tin we yu lɛk fɔ du.
• Tɔk to pɔsin we sabi bɔt mental wɛlbɔdi biznɛs . I go gi yu bɔku fridɔm.
• If nid de, yuse mɛrɛsin lɛk mɛrɛsin wae de mek pɔrsin fil bad lɛk aw dɔktɔ tɛl yu fɔ du.

Yu tink se dɛn go ebul fɔ mek dɛn nɔ gɛt di sik we dɛn kɔl Miller-Decker syndrome?

Na so i bi, dat min se rili no we nɔ de fɔ mek dɛn nɔ gɛt di sik we dɛn kɔl Miller-Decker syndrome, we kin apin wantɛm wantɛm fɔ no rizin.

Bɔt if yu gɛt pikin we gɛt dis sik, dɛn kin du jenɛtik tɛst fɔ no if yu ɔ yu patna gɛt di ‘balanced translocation’ we wi bin dɔn tɔk bɔt na kromozom 17. We mama ɔ papa we gɛt dis kayn ‘translocation’ gɛt ɔda pikin, bɔku tɛm na lɛk wan pan tri chans de fɔ mek da pikin de gɛt Miller-Decker syndrome bak.

So, i rili impɔtant fɔ mek yu ɛn yu patna mit wit wan jenɛtik kɔlnɔ fɔ tɔk bɔt dis risk ɛn di tin dɛn we yu go ebul fɔ du.

Wetin na di fiuja fɔ pikin we gɛt dis sik?

Dis rili sɔri fɔ tɔk. Di layf we pikin dɛn we gɛt Miller-Decker syndrome kin liv kin shɔt . Bɔku pikin dɛn kin gɛt siriɔs sik we kin mek dɛn day. כ, biכs di trot mכsul dεm wik, kכndyushכn lεk ‘aspiration pneumonia’ kin apin, usay it εn drink de go insay di lכng. Dis na tin we rili denja.

Bɔku pikin dɛn kin day we dɛn ol 2. Sɔm pikin dɛn kin liv te dɛn ol 10 ia. Bɔt, fɔ liv te dɛn yɔŋ, nɔ kin rili apin.

Ustɛm yu fɔ go to dɔktɔ?

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

• Divεlכpmεnt delay - if yu nכ de du tin dεm we fit yu ej.
• If i nɔ izi fɔ yu fɔ blo, fɔ it, ɔ fɔ swɛla.
• If yu kin gɛt sik we de mek yu sik ɔltɛm .
• If i tan lɛk se di bɔdi de gro sloslo.
• If yu notis yu fes ɔ yu bɔdi we nɔ kɔmɔn .

Wetin na di impɔtant kwɛstyɔn dɛn we wi fɔ aks di dɔktɔ?

Wae yu dɔn no se yu pikin gɛt Miller-Deeker syndrome, yu kin aks di dɔktɔ kwɛstyɔn dɛn lɛk:

• Wetin kin mek mi pikin gɛt di sik we dɛn kɔl Miller-Decker 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 du jenɛtik tɛst?
• Us ɔda prɔblɛm dɛn we a fɔ wɔri bɔt?

Fɔ dɔn, mɛmba

Wae yu pikin gɛt siriɔs sik wae de mek yu nɔr de liv lɛk dis, e fayn fɔ aks fɔ ɛp frɔm spɛshal pipul dɛm ɛn pipul dɛm wae sabi bɔt de sik. Yu dɔktɔ kin ɛp fɔ kɔntrol yu pikin in sik ɛn ɛp am fɔ fil fayn as i pɔsibul. Dɛn kin kɔnɛkt yu bak wit risɔs ɛn sɔpɔt savis dɛm wae kin ɛp yu famili fɔ pas dis tranga tɛm.

As yu ebul, ɛnjɔy di tɛm we yu famili gɛt togɛda. Una fɔ lɛk unasɛf ɛn sɔpɔt unasɛf. Tray fɔ gɛda fayn fayn mɛmori dɛn we yu nɔ go ɛva fɔgɛt. Nɔ tray fɔ go tru dis joyn yu wan, bɔku pipul dɛn de we kin ɛp yu.

` Miller-Dieker Syndrome, lissencephaly, bren divεlכpmεnt, jεnεtik sik dεm, kromozom 17, pikin dεm hεlth, divεlכpmεnt dεlay