Wetin na di sik we dɛn kɔl Weaver Syndrome? Yu fɔ no bɔt yu pikin!

Yu dɔn ɛva notis se sɔm pikin dɛn kin gro kwik kwik wan pas ɔda pikin dɛn we dɛn ej, ɔ sɔm difrɛns dɛn de pan di we aw dɛn luk? Sɔntɛnde as mama ɛn papa, wi kin wɔri smɔl we wi si tin dɛn lɛk dis, nɔto so? Sɔmtɛm lɛk dis, e kin mek yu maynd nɔr de tink, bɔt wan sik de wae nɔr kin bɔrku, wae kin kam pan pɔrsin in jɛnɛtiks wae dɛn kɔl Weaver Syndrome. Tide, wi go tɔk bɔt dis simpul we we yu go ɔndastand.

Wetin rili na Weaver Syndrome?

Fɔ tɔk am simpul wan, Weaver Syndrome, we sɔm pipul dɛn kin kɔl Weaver-Smith syndrome, na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . Di men tin we de insay dis na dat di bɔdi in bon dɛn de gro fast fast pas aw dɛn nid fɔ gro. Dis kin mek di pikin lɔng pas dɛn ej fa fawe. Dɔn bak, dis sik kin mek di pikin in fes ɛn in ed saiz chenj. Sɔntɛnde, i kin afɛkt di mɔsul dɛn ɛn ɔda pat dɛn na di bɔdi bak.

Mɛmba se nɔto ɔlman kin afɛkt di sem we. Bɔt di men sayn we bɔku pipul dɛn kin gɛt na we dɛn ay pasmak. If yu ɔ yu pikin gɛt Weaver Syndrome, yu kin gɛt smɔl mɔsul dɛn, yu kin gɛt prɔblɛm fɔ waka ɛn ol tin dɛn, ɛn yu an ɔ yu fut dɛn kin butu ɔ nɔ fayn. Sɔm pikin dɛn kin gɛt prɔblɛm wit dɛn maynd bak . Dis kin kɔmɔt frɔm wae nɔr kin pasmak to wae kin rili bad.

Aw dis sik kin kɔmɔn?

Dis na rili wan sik we nɔ kin apin so ɔltɛm. Dɔktɔ dɛn dɔn no smɔl pipul dɛn nɔmɔ ɔlsay na di wɔl, we na lɛk 50, so yu kin imajin aw i nɔ kin apin so ɔltɛm.

Aw di sik we dɛn kɔl Weaver Syndrome kin afɛkt wɛlbɔdi biznɛs?

Dis sik kin mek pikin gɛt wan kayn kansa we dɛn kɔl Nyuroblastoma smɔl smɔl. Nyuroblastoma na wan kayn kansa we kin ambɔg pikin dɛn we nɔ rich 5 ia yet. Sɔm pikin dɛn kin gɛt at sik bak we dɛn bɔn wit, we kin nid fɔ gɛt ɔpreshɔn. Bɔt if dɛn kia fɔ dɛn fayn fayn wan ɛn dɛn de wach dɛn fayn fayn wan , bɔku pikin dɛn we gɛt Weaver Syndrome kin liv fayn layf te dɛn big.

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

Weaver Syndrome na wan sik we de mek pɔsin gɛt jɛnɛtiks . jεnεtik dizכrd na wan kכndyushכn we de apin we chenj (wi kכl am mכtεshכn) de na wi jin dεm. Weaver Syndrome gɛt fɔ du wit wan jin we dɛn kɔl EZH2. dis mכtεshכn na di EZH2 jin de mek di bon dεm lכs.I de gro fast fast. כlso, dis de stat wan chen riakshכn we de afekt bכku כda jin dεm na di bכdi. Na dat mek di Weaver Syndrome kin afɛkt difrɛn mɔsul dɛm, bon dɛm, ɛn ɔgan dɛm.

כltu, dכkta dεm stil nכ כndastand gud gud wan aw dis `(EZH2)` jin mכtεshכn de mek di Weaver Syndrome. Na lɛk af pan pipul dɛm wae gɛt Weaver Syndrome kin gɛt dis jin muteshon frɔm wan pan dɛn mama ɛn papa. if di mama כ papa gεt dis `(EZH2)` jin mכtεshכn, i gεt bכt 50% chans fכ di pikin bak go gεt am we dεn gεt pikin.

Bɔt nɔto ɔltɛm mama ɛn papa kin gɛt dis sik we dɛn kɔl Weaver Syndrome. Sɔm pipul dɛn kin gɛt dis jin muteshon (EZH2) ivin if dɛn mama ɛn papa nɔ gɛt am.

Wetin na di sayn dɛm wae de sho se yu gɛt Weaver Syndrome?

Sɔntɛnde yu kin si di sayn dɛm fɔ Weaver Syndrome we di pikin stil de na di bɛlɛ . We dɛn de du ɔltra saund skan we yu gɛt bɛlɛ, di dɔktɔ kin si se di pikin in bon dɛn lɔng pas aw i kin bi. If dis apin, di dɔktɔ kin se di pikin gɛt wan sik we dɛn kɔl makrosomia, we min se di pikin big pas aw i fɔ bi.

If yu nyu bɔbɔ gɛt Weaver Syndrome, dɛn kin tek lɔng tɛm we dɛn bɔn am ɔ dɛn kin gɛt mɔ wet we dɛn bɔn am . Bebi dɛn we gɛt Weaver Syndrome kin kray wit vɔys we de kray, we nɔ de tɔk, ɛn we de kray.

Sɔntɛnde, di pikin nɔ kin sho klia sayn fɔ sɔm mɔnt.

Yu dɔktɔ kin se yu pikin dɔn "advanced bon age." Dis min se in bon dɛn de machɔ kwik kwik wan pas aw i kin machɔ. Yu pikin kin gro kwik kwik wan dat i kin ivin pas di nɔmal growth chɛt dɛn.

Weaver Syndrome kin mek dɛn chenj ya na di we aw di ed ɔr fes de luk:

• Brayt fɔrɛst
• Ekstra skin na di insay kɔna na di yay (Epicanthal folds) .
• di palpebral fis dεm we de slan dכn
• Orbital hypertelorism ( yay dɛn we de tu fa frɔm dɛnsɛf ) .
• Fɔ gɛt big ed (Macrocephaly) .
• Big ɔ low-set yes
• di lεngth we di filtrum de inkrεs bitwin di כp lip εn di nos
• Smɔl smɔl jaw we de dɔŋ `(Micrognathia)`

Weaver Syndrome kin afɛkt ɔda pat dɛm na di bɔdi ɛn di sistɛm dɛm. If yu ɔ yu pikin gɛt dis sik, yu kin gɛt bak:

• Di at kɔndishɔn dɛn we dɛn bɔn wit
• Klɔbfut ɔ mɛtatarsus aduktus
• Ɛlbo ɔ ni dɛn we nɔ kin ebul fɔ ɛkstɛnd ful wan
• we yu nכ ebul fכ fulכp di finga dεm (Camptodactyly) εn di big big fut dεm we wayd
• Difɔmiti dɛm na di jɔyn dɛm na di fut finga dɛm
• Disabiliti dɛn we gɛt fɔ du wit intɛlektual
• di bכdi mכsul dεm we lכs kin mek yu gεt εnia (intestinal protrusion).
• Skɔliosis we de mek pɔsin gɛt sik
• Fɔ fil se di mɔsul dɛn stif na di an ɛn leg
• i at fכ rich di divεlכpmεnt maylston dεm na bεlε pikin dεm εn yכŋ pikin dεm (e.g., delay fכ es di ed, fכ rכl oba, sidon כp, εn waka) .

Aw yu go no dis kɔrɛkt wan?

If yu dɔktɔ sɔspɛkt Wiva Sindrom, dɛn kin ɔda fɔ du jenɛtik tɛst fɔ luk fɔ di EZH2 jin muteshɔn . Bɔku tɛm, dis kin min fɔ tek blɔd sɛmpul ɛn sɛn am to say usay dɛn de du tɛst fɔ no if pɔsin gɛt jɛnɛtiks.

Sɔntɛnde, yu dɔktɔ kin tɛst fɔ si if sɔm jin chenj dɛn de fɔ no ɔda tin dɛn we de apin na yu jɛnɛtiks. Dɛn kɔl dis panɛl fɔ tɛst di jɛnɛtiks . Dis na bikɔs ɔda jɛnɛtik kɔndishɔn dɛn de, lɛk Sotos syndrome, we gɛt di sem kayn sayn dɛm lɛk Weaver Syndrome. So, wan panɛl fɔ tɛst lɛk dis kin ɛp yu fɔ no ustɛm yu ɔ yu pikin gɛt us jin chenj.

Wetin na di tritmɛnt fɔ Weaver Syndrome?

Naw, no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl Weaver Syndrome. Bɔt yu dɔktɔ kin ɛp yu ɔ yu pikin fɔ kɔntrol di sik bay we i mek plan fɔ kia fɔ yu . Fɔ ɛgzampul, dis kia plan kin gɛt fɔ du wit:

• If intɛlektual disabiliti de, bihayvya wɛlbɔdi kia (e.g., spɛshal ɛdyukeshɔn, bihayvya tɛrapi) de.
• If yu bɔn wit at prɔblɛm, trit ɛn manej am wit Cardiovascular care .
• Atikul sɔpɔt fɔ skul wok ɛn lanin (e.g., spɛshal tich, ɛdyukeshɔn kɔlnɔ).
• If yu gɛt prɔblɛm wit yu jɔyn, yu an, ɔ yu leg, yu go nid fɔ du ɔpreshɔn pan yu ɔtpidik ɔ ɔda mɛrɛsin .
• Fyzikal tεrapi f כ divεlכp di mכsul dεm trεnk εn di bכdi kכdכnayshכn.

Di tin we impɔtant pas ɔl na dat, bikɔs ɔl dis kin difrɛn frɔm wan pikin to ɔda pikin, wan tim fɔ dɔktɔ dɛn kin kam togɛda fɔ mek dis kia plan we fit di pikin.

Wan we de fɔ mek yu nɔ gɛt Weaver Syndrome?

Bɔt i sɔri fɔ no se naw, dɛn nɔr no we fɔ mek dɛn nɔ gɛt di sik we dɛn kɔl Weaver Syndrome.Pikin dɛn kin gɛt dis frɔm dɛn mama ɛn papa, bɔt i kin bigin bak fɔ dɛnsɛf we nɔbɔdi nɔ gɛt am na di famili. I pɔsibul fɔ mek mama ɔ papa gɛt dis jenɛtik muteshɔn, bɔt dɛn nɔ kin no am.

Aw a go no if a de pan denja?

If pɔsin na yu famili gɛt wan sik we yu gɛt frɔm yu mama ɛn papa ɔ we yu no se i dɔn chenj in jin , i go fayn fɔ aks yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks. Dɛn tɛst ya kin no sɔm jin dɛn we kin mek pɔsin gɛt wɛlbɔdi prɔblɛm. Dɛn tɛst ya kin ɛp yu fɔ no bɔt di jenɛtik kɔndishɔn dɛn we yu kin pas to yu pikin dɛn.

Wetin na de luk fɔ pɔrsin wae gɛt Weaver Syndrome?

Pan ɔl we no mɛrɛsin nɔr de fɔ Wiva Sindrom, pipul dɛm wae gɛt dis sik kin liv wɛl bɔdi layf if dɛn de mɛn dɛn fayn fayn wan. De tin wae impɔtant pas ɔl na fɔ go to yu dɔktɔ ɔltɛm fɔ kɔntrol yu sik ɛn gɛt di kia wae yu nid. Sɔm pikin dɛn we gɛt Weaver Syndrome kin gɛt kansa we dɛn kɔl nyuroblastoma, bɔt bɔku pan dɛn nɔ kin gɛt am. Bɔt yu dɔktɔ kin tɔk to yu bɔt di sayn dɛn we de sho se pɔsin gɛt nyuroblastoma ɛn i kin du ɔda tɛst fɔ yu pikin if nid de.

Ustɛm yu fɔ go to dɔktɔ? Us sayn dɛn yu fɔ wɔri bɔt?

I impɔtant fɔ de chɛk-ap ɔltɛm ɛn tɔk to yu dɔktɔ bɔt ɛni prɔblɛm we yu gɛt wit yu bɔdi ɔ yu maynd. Fɔ fala di kia plan we yu dɔktɔ gi yu. If yu pikin gɛt Weaver Syndrome, yusɛf fɔ du di sem tin.

Mɔ if i tan lɛk se yu pikin gɛt ɛni wan pan dɛn tin ya we de sho se i gɛt nyuroblastoma , tɛl yu pikin in dɔktɔ wantɛm wantɛm:

• Ay dɛn we de kɔmɔt na do ɔ dak sɛklɔ dɛn we de rawnd di yay.
• di apinεns fכ nyu lump כ tכmכro na di nεk כ trכnk (bεlε, chεst).
• Dayarɛa, bɛlɛ at, nɔr kin want fɔ it.
• Fɔ fil taya pasmak wit fiva ɔ kɔf.
• Di we aw blu ɔ pepul bɔmp dɛn kin tan ɔnda di skin.
• Pale skin.
• Di bɛlɛ we de blo.
• I nɔ kin izi fɔ yu fɔ blo.
• Wik ɔ paralayz na di leg ɛn fut (lɛk we yu nɔ ebul fɔ waka).

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

I impɔtant fɔ ɔndastand se Weaver Syndrome na wan sik we nɔ kin apin so ɔltɛm ɛn i kin afɛkt ɔlman difrɛn we . Pan ɔl we no mɛrɛsin nɔ de, if yu gɛt di rayt mɛrɛsin ɛn plan fɔ kia fɔ yu pikin, yu ɔ yu pikin kin ebul fɔ kɔntrol di sik dɛn ɛn liv fayn layf as yu ebul. I impɔtant fɔ gɛt dɔktɔ ɔltɛm ɛn fala wetin yu dɔktɔ tɛl yu fɔ du. If yu ɔ sɔmbɔdi na yu famili gɛt ɛni kwɛstyɔn bɔt dis, nɔ shem fɔ tɔk to dɔktɔ. Dɛn go ebul fɔ ɛp yu.

`Weaver Syndrome, Jɛnɛtik Diziz, Bɔn Grɔw, Ayt Gɛt, EZH2 Jin, Nyuroblastoma