Sɔmbɔdi we de nia yu gɛt Kɔfin-Lɔri Sindrom? Lɛ wi tɔk bɔt am!

Yu dɔn ɛva yɛri bɔt wan sik we dɛn kɔl Kɔfin-Lɔri Sindrom (CLS)? Di nem kin bi nyu tin to yu smɔl. Na wan sik wae nɔr kin bɔrku, wae nɔr kin bɔrku pan bɔrku pipul dɛm. I kin afɛkt difrɛn pat dɛn na di bɔdi difrɛn we dɛn. Lɛ wi tɔk bɔt am simpul wan we yu go ɔndastand.

Aw kɔmɔn tin dis kin apin?

infakt, dis `(Coffin-Lowry Syndrome)` kin rili rare. Fɔ tɔk di kɔrɛkt tin, sayɛnsman dɛn se i kin apin to lɛk wan pan ɛvri 50,000 to 100,000 pipul dɛn. Dat min se na sik we nɔ kin apin so ɔltɛm. Wan ɔda tin na dat, bɔrku tɛm, dat na bitwin 70% ɛn 80%, nɔrbɔdi na di famili nɔr kin dɔn gɛt dis sik bifo. Dat min se di kes dɛm we kin apin wan wan tɛm na dɛn kin bɔku.

Udat kin gɛt dis sik?

Dis kɔndishɔn `(CLS)` kin afɛkt bɔy pikin ɛn gyal pikin. Bɔt di sayn dɛn kin rili bad pan bɔy pikin dɛn. Na mɔtalman, bɔy pikin dɛn we gɛt `(CLS)` kin gɛt siriɔs intɛlektual disabiliti. Bɔt di tin we kin apin kin difrɛn smɔl fɔ gyal pikin dɛn. Sɔm gyal pikin dɛn kin gɛt nɔmal intɛlijɛns, ɛn ɔda wan dɛn kin gɛt smɔl, mɔdaret, ɔ siriɔs intɛlektual disabiliti. I kin difrɛn frɔm wan pɔsin to ɔda pɔsin.

Wetin mek dis de apin? Wetin na di rizin dɛn we mek dɛn de du dis?

כl di tεm dεm, di kכfin-Lכwri sεndrכm de kכz fכ wan mכtεshכn insay wan jin we dεn kכl `RPS6KA3` insay wi bכdi. Naw yu go de wɔnda wetin na jin, nɔto so? Fɔ tɔk am simpul wan, jin dɛn tan lɛk smɔl smɔl tin dɛn we de na wi bɔdi. Tin dɛn lɛk wi ia kɔlɔ, ayt, ɛn skin kɔlɔ na dɛn jin ya de sho. so, dis `RPS6KA3` jin de mek wan spεshal protin we de εp wi sεl dεm fכ ``tכk'' to wan an, dat na fכ chenj infכmeshכn. we difεkt de, dat na, mכtεshכn, insay dis jin, di prodakshכn fכ da protin de na di bכdi de dכn. Bɔt sayɛnsman dɛn stil nɔ rili klia bɔt aw di we aw dis prɔtin de go dɔŋ gɛt sɔntin fɔ du wit Kɔfin-Lɔri sindrom.

tεm de we sכm pipul dεn gεt di kכndishכn `(CLS)` bכt dεn kin fכn nכ mכtεshכn na dεn `RPS6KA3` jin. Insay dɛn kayn tin ya, wetin kin mek pɔsin gɛt dis sik stil na sɔntin we nɔ izi fɔ ɔndastand.

Wetin na di sayn dɛm fɔ dis?

De sayn dɛm fɔ Coffin-Lowry syndrome kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. As wi bin dɔn tɔk, dɛn kin tranga mɔ pan bɔy pikin dɛn. Dɛn sayn ya kin afɛkt difrɛn pat dɛm na di bɔdi ɛn kin kam fɔ no mɔr lɛk aw pɔrsin de ol.

Speshal tin dɛn we pɔsin kin si na di fes

Sɔm kayn tin de wae yu kin si pan de fes fɔ pipul dɛm wae gɛt dis sik. Dɛn tin ya na:

• Dɛn kin put di yay dɛn apat smɔl pas aw i kin bi, ɛn i kin tan lɛk se di kɔna dɛn na di yay dɛn kin slop smɔl dɔŋ.
• di yes dεm big pas nכmal εn dεn de set lכw.
• Di fɔrɛst, di aybrɔw, ɛn di chin de klia wan.
• Dɛn kin tɔn di nos ɔp ɛn di nos dɛn kin wayd.
• Di mɔt wayd ɛn di lip dɛn tik.

Speshal tin dɛn we yu kin si na di an dɛn

Yu kin si sɔm chenj dɛn bak na di an dɛn:

• Finga dɛn we gɛt tu jɔyn.
• di finga dεm tik na di bεs εn tכn tכwεd di tכp dεm (`tapered fingers`).
• Di an dɛn kin fil big ɛn saf.

Prɔblɛm dɛn we pɔsin kin si na di skel

Sɔm prɔblɛm dɛn kin de bak wit di bɔdi in skel:

• wan hunchback, we min se wan hunched posture (`kyphosis` כ `scoliosis`) de sho.
• Prɔblɛm dɛn we gɛt fɔ du wit dɛn tit; fכ egzampl, chenj dεm na di shep fכ di mכt, di tit dεm we nכ de, εtk.
• di midul bon na di chεst de kכmכt bifo כ i de sink insay.
• di sכt we di lכng bon dεm na di limb dεm de sכt (e.g., fεmur, tibia, εn humerus).
• Shortness of stature (shɔt fɔ ayt).
• di ed sכm pas di nכmal saiz (Microcephaly).

Ɔda sayn dɛn we kin apin

Apat frɔm dis, yu kin si ɔda sayn dɛm:

• Divɛlɔpmɛnt dilɛys ɛn intɛlektual disabiliti.
• Drɔp atak: Dis na sɔntin we spɛshal smɔl. Imajin, we dɛn de ansa wan sawnd wantɛm wantɛm, sɔntin we apin wantɛm wantɛm, ɔ wan strɔng filin, dɛn kin fɔdɔm na grɔn wantɛm wantɛm, ɛn i tan lɛk se dɛn nɔ no natin. Di strenj tin na dat, dɛn kin no da tɛm de, bɔt dɛn nɔ kin ebul fɔ kɔntrol dɛn bɔdi. dis dεn kכl am `(Stimulus-induced drop episodes)`.
• I nɔ de yɛri fayn.
• Di skin kin lɔs ɛn i kin strɛch.
• Prɔblɛm wit at, liva, ɔ kidni.
• Big tɔ we dɔn shɔt.
• I nɔ izi fɔ tɔk.
• Mɔsul dɛn wik ɛn nɔ gɛt trɛnk igen.

Aw yu no dis sik?

Bɔku we dɛn de we dɔktɔ kin no se i gɛt di sik we dɛn kɔl Coffin-Lowry syndrome:

• Fɔ wach di simptom dɛm: Di dɔktɔ kin tek tɛm luk di pikin fɔ si if i gɛt di patikyula simptom dɛm we wi bin dɔn tɔk bɔt.
• Jεnεtik tεst: If yu du chεk swab כ bכdi tεst i kin kכnfכm if mכtεshכn de na di RPS6KA3 jin.
• X-ray: X-ray kin ɛp fɔ si di tin dɛn we de apin to di spayna, finga dɛn, ɛn lɔng bon dɛn.
• Bren skan (`Neuroimaging studies`): Pan ɔl we dɛn kin yuz dɛn tin ya fɔ lan mɔ bɔt di bren, dɛn wan nɔ kin ebul fɔ no di sik klia wan.

Yu tink se kɔmplit mɛrɛsin de fɔ dis? Wetin na di tritmɛnt dɛn?

Bɔt i sɔri fɔ no se, no mɛrɛsin ɔ spɛshal tritmɛnt nɔ de fɔ Kɔfin-Lɔri sindrom. De men gol na fɔ kɔntrol di sik, ridyus di sayn dɛm, ɛn ɛp pipul dɛm fɔ liv fayn ɛn gladi as dɛn ebul.

Pipul wae gɛt dis sik kin nid fɔ go to bɔrku spɛshal pipul dɛm ɔltɛm. Fɔ ɛgzampul:

• Ɔdiɔlɔjis dɛm: Na dɛn wan ya de luk afta pɔsin we gɛt prɔblɛm wit yu yɛri.
• Di wan dɛm wae de mɛn yu at: Na dɛn pipul ya kin no ɛn trit yu at prɔblɛm.
• Nyurolɔjis: Dɛn dɔktɔ ya na di dɔktɔ dɛn we de trit prɔblɛm dɛn we gɛt fɔ du wit di bren ɛn di nervɔs sistɛm.
• Ɔftalmolɔg dɛm: Fɔ prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin de si.
• Ɔtpidist dɛm: Na dɛn pipul ya kin trit prɔblɛm wit bon, jɔyn, ɛn spayna .
• Dɛnt spɛshal pipul dɛm: Bɔt tit ɛn ɔral wɛlbɔdi.
• Ɔkupeshɔn thɛrapist dɛm: Ɛp pipul dɛm fɔ du di wok dɛm wae dɛn kin du ɛvride, lɛk fɔ it ɛn rayt, fayn fayn wan.
• Di wan dɛn we de mɛn yu bɔdi: Ɛp fɔ mek yu bɔdi gɛt trɛnk ɛn muv fayn fayn wan.
• Di wan dɛn we de mɛn pipul dɛn we de tɔk: Ɛp wit di prɔblɛm dɛn we pɔsin kin tɔk ɛn we i kin delay.

Fɔ dɛn drɔp ɛpisod dɛm we wi bin dɔn tɔk bɔt, dɔktɔ kin gi yu mɛrɛsin fɔ mek yu nɔ gɛt kɔnvuls ɔ mɛrɛsin fɔ mek yu wɔri. If pɔsin gɛt siriɔs skel we nɔ fayn, i kin nid fɔ du ɔpreshɔn.

Yu dɔktɔ kin tɛl yu bak fɔ gɛt advays bɔt yu jɛnɛtiks.

A kin mek dis nɔ apin to mi pikin?

sayɛnsman dεm stil nכ no εksεktεli wetin de mek dis jεnεtik mכtεshכn, nכto wetin de mek di tin dεm we dεn kכl `sporadic cases`. So, naw, no we nɔ de fɔ mek dɛn nɔ gɛt di sik we dɛn kɔl Coffin-Lowry syndrome. Mama wae gɛt dis sik gɛt 50% chans fɔ mek in pikin gɛt dis sik. we dεn tεst di jεnεtik bifo dεn bכn kin no if dis jεnεtik mכtεshכn de we uman bεlε. Yu dɔktɔ kin tɛl yu bak se yu fɔ gɛt advays bɔt yu fambul dɛn we de nia yu.

Wetin kin apin if mi ɔ mi pikin gɛt dis sik? Wetin go apin tumara bambay?

Naw yu kin de tink se, "O, if mi pikin gɛt dis kɔndishɔn, aw in fiuja go tan lɛk ?" Fɔ tru, nɔto ɔlman we gɛt Kɔfin-Lɔri Sindrom na di sem. Sɔm nɔ kin afɛkt bɛtɛ, ɔda wan dɛn kin afɛkt am smɔl. So, wetin go apin to ɛnibɔdi tumara bambay kin difrɛn. I dipen pan us pat na di bɔdi de afɛkt ɛn aw bad bad tin kin apin.

Di tin we impɔtant pas ɔl na dat ivin pikin we gɛt dis sik kin gɛt sakrifays na layf di bɛst we if i gɛt di sɔpɔt, tritmɛnt, ɛn lɔv we i nid.

Yu tink se di sik we dɛn kɔl Coffin-Lowry syndrome kin mek pɔsin in layf de pan denja?

Dis sik kin mek pɔrsin in layf shɔt to sɔm mak. Sɔm stɔdi dɔn sho se lɛk 13.5% pan di bɔy pikin dɛm ɛn 4.5% pan di gyal pikin dɛm we gɛt dis sik kin day, pan avɛj, we dɛn ol 20.5 ia. Bɔt, dis nɔ kin apin to ɔlman.

Wetin ɔda tin a kin aks mi dɔktɔ bɔt dis?

If yu ɔ yu pikin gɛt CLS, yu kin aks yu dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• "Us pat na mi/mi pikin in bɔdi ɛksaktɔli we dis kɔndishɔn afɛkt?"
• "Ɛnitin de we kin mek pɔsin in layf de pan denja frɔm dɛn tin ya?"
• "Us kain speshal pipul wi shud si? Aw often wi shud si dem?"
• "Yu rikɔmɛnd fɔ tek mɛrɛsin ɔ ɔpreshɔn fɔ dis?"
• "Spɔt grup dɛn de we go ɛp wi fɔ liv wit dis sityueshɔn?"
• "Yu tink se i go fayn fɔ gɛt jenɛtik kɔyl na wi sityueshɔn?"
• "I fayn fɔ mek dɛn du jenɛtik tɛst fɔ di ɔda pipul dɛn na wi famili?"

So, wetin na di impɔtant tin dɛn we wi fɔ mɛmba frɔm ɔl dɛn tin ya? (Mɛsej we dɛn kin tek go na os)

Coffin-Lowry Syndrome (CLS) na wan sik we nɔ kin apin so ɔltɛm, we pɔsin kin bɔn wit in jɛnɛtiks we kin afɛkt bɔku pat dɛn na di bɔdi. Di sayn dɛm kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin, bɔt di fes, di skel dɛm wae nɔr de woke fayn, ɛn wae pɔrsin nɔr kin ebul fɔ tink fayn kin bɔku.

Pan ɔl we nɔr patikyula mɛrɛsin nɔr de fɔ dis, yu kin aks fɔ ɛp frɔm difrɛn spɛshal pipul dɛm ɛn tritmɛnt pipul dɛm fɔ kɔntrol yu sik dɛm ɛn liv yu layf fayn fayn wan.

If yu sɔspɛkt ɔ dɛn dɔn no se yu gɛt dis sik, duya go to dɔktɔ. Dɛn go gi yu di gayd ɛn sɔpɔt we yu nid. Mɛmba se nɔto yu wangren de. Risos ɛn sɔpɔt grup dɛn de we kin ɛp famili dɛn we de dil wit dɛn kayn tin ya.

` Kɔfin-Lɔri Sindrom, CLS, jɛnɛtik abnɔmaliti, bɔn difrɛns, intɛlektual disabiliti, skel difɔmiti, drɔp atak