Wetin na Timoti Sindrom? Yu pikin gɛt dɛn tin ya? Mek wi tok!

Yu de wɔri bɔt yu smɔl pikin in at prɔblɛm, ɔ chenj pan aw dɛn de luk ɔ aw dɛn de gro? Sɔmtɛm, de ɔndalayn kɔz kin bi wan jenɛtik kɔndishɔn wae wi nɔr dɔn yɛri bɔrku bɔt. Wan pan dɛn kayn tin ya we nɔ kin apin so ɔltɛm bɔt we impɔtant fɔ no bɔt na Timothy syndrome. Tide, wi go tɔk bɔt am simpul wan, di we we yu go ɔndastand.

Wetin na Timoti Sindrom?

Fɔ tɔk am simpul wan, Timoti sindrom na wan sik we nɔ kin apin we pɔsin in jɛnɛtiks kin apin. I kin afɛkt yu pikin in at, aw i luk, in nervɔs sistɛm, ɛn in imyun sistɛm . Di sayn dɛm kin difrɛn, ɛn sɔm pikin dɛm kin gɛt prɔblɛm wit dɛn at we kin mek dɛn layf de pan denja.

Udat kin gɛt dis? Aw dɛn kin gɛt am frɔm dɛn gret gret granpa dɛn?

Naw yu go de wɔnda, ‘Udat gɛt dis?’ Timothy syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, so ɛnibɔdi kin gɛt am. I kin apin lɛk dis:

• כltu, pikin fכ gεt di kכndyushכn frכm wan mama εn papa nכmכ, we dεn kכl כtosomal dominant inhεritans.
• Sɔntɛnde, i kin sɔprayz fɔ no se pikin kin gɛt dis sik frɔm in mama ɔ papa we nɔ gɛt ɛni sayn. Dis na bikɔs di jin we dɛn afɛkt kin de na sɔm sɛl dɛn nɔmɔ na di mama ɔ papa in bɔdi, nɔto ɔl di sɛl dɛn . Dɛn kɔl dis `mosaic` kɔndishɔn.
• Bɔt bikɔs dɛn sik ya kin tranga, i nɔ kin izi fɔ mek pɔsin we gɛt Timothy syndrome pas dis jin to di nɛks jɛnɛreshɔn.
• Bɔrku tɛm, dis sik kin apin bikɔs ɔf wan nyu jɛnɛtik we nɔ gɛt ɛni famili histri . Dat min se, bikɔs ɔf wan nyu chenj na di jɛnɛtiks.

Aw kɔmɔn tin dis?

We yu tink bɔt aw i kɔmɔn, Timothy syndrome na wan sik we nɔ kin apin so ɔltɛm . Na lɛk 100 pipul dɛn nɔmɔ na di wɔl we dɛn no se gɛt dis sik. So dɛn nɔ de tɔk bɔt am bɔku tin.

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

Dɛn sik ya kin difrɛn frɔm wan pikin to ɔda pikin, ɛn aw di sik kin tranga kin difrɛn. Yu pikin kin gɛt sɔm sayn dɛn, bɔt dɛn nɔ kin gɛt sɔm. Dɛn sayn ya kin afɛkt mɔ di at, di we aw di bɔdi de luk, ɛn ɔda tin dɛn we di bɔdi de du .

Di sayn dɛm wae de afɛkt di at

Di sayn dɛm wae gɛt fɔ du wit yu at na di impɔtant tin fɔ pe atɛnshɔn to, bikɔs dɛn tin ya kin mek yu layf de pan denja.

• Yu kin notis se yu at de bit kwik kwik wan ɔ i nɔ de bit ɔltɛm (palpitations) we yu put yu an pan yu pikin in chɛst.
• Yu nɔ kin no natin wantɛm wantɛm (syncope) .

Dis na bikɔs ɔf:

• Wan stɔp fɔ lɔng tɛm bitwin di at bit. Dɔktɔ dɛn kin kɔl dis `prolonged QT`.
• di hat sik we dεn kin bכn (na difεkt na di at in strכkchכ we de de we dεn bכn am) kin afekt di at in ebul fכ pכmp blכd.
• At ritm we nɔ de ɔltɛm (ari ritmia) .
• di lכw chεmba dεm na di at (vεntrikul dεm) de bit bכku fast (`ventricular tachycardia`) . Dis na tin we rili denja.

Mɛmba se dɛn tin ya we kin apin to pɔsin in at kin mek pɔsin in layf de pan denja . Yu nid fɔ tek tɛm bad bad wan bɔt dis bikɔs i kin mek yu at stɔp wantɛm wantɛm (kadyak arɛst) ɔ ivin day wantɛm wantɛm.

Di kwaliti dɛn we gɛt fɔ du wit di we aw di bɔdi de luk

Pikin dɛn we gɛt Timothy syndrome gɛt sɔm patikyula tin dɛn we pɔsin kin si we dɛn bɔn dɛn:

• di skin bitwin di finga dεm de jכyn tכgeda (`cutaneous syndactyly`) . Lɛk dɔk in yon. I kin apin pan ɔl tu di an ɛn fut.
• Flat we di brij de bitwin di nos dɛn .
• Dɛn kin sɛt di yes dɛn dɔŋ pas aw i kin bi .
• Krɔs di ɔpa jaw .
• Tin we di ɔpa lip tan .
• Tit de grind ɛn kruk .
• I nɔ gɛt ia, lɛk se i dɔn bold we dɛn bɔn am .

Di simptom dɛm we de afɛkt di bɔdi sistɛm dɛm

dis kכndyushכn de afekt bak di pat dεm na di pikin in bren we de kכntro sכm pan di bכdi in sistεm dεm. So, yu kin si sayn dɛm bak lɛk:

• Divεlכpmεnt dilay εn prכblεm wit kכgnitiv fכnshכn . Fɔ tɔk ɛn waka kin delay we yu kɔmpia am to ɔda pikin dɛn.
• Infekshɔn dɛn we kin kam bɔku tɛm . Bikɔs ɔf di smɔl imyuniti, sik dɛn kin skata izi wan.
• Di shuga we de na di blɔd we nɔ bɔku (haypoglycemia) .
• di tεmprachכ na di bכdi we de dכn (haypothermia) .
• Epileptic seizures (dεn kin kɔl dis bak epilepsy ɔr photosensitive epilepsy) .
• I nɔ kin izi fɔ tɔk to ɔda pipul dɛn ɛn fɔ de wit ɔda pipul dɛn (ɔtizm spɛktrum disɔda) . Sɔntɛm dɛn kin fil lɛk se dɛn de na dɛn yon wɔl.

Wetin kin mek pɔsin gɛt Timothy Syndrome?

if wi luk di kכz fכ dis, Timothy syndrome de kכz f כ wan jεnεtik vεryכnt כ ​​mכtεshכn insay di jin `CACNA1C` . dis jin de sho wi fכ mek wan protin we de kכri kalsiכm ayכn dεm to wi at sεl dεm (cardiomyocytes) εn to wi bren sεl dεm (nyuron dεm).

imajin, di protin we di `CACNA1C` jin de prodyuz lεk wan domɔt. Dis domɔt de opin ɛn lɔk, we de mek di atɔm dɛn we gɛt kalsiɔm go insay ɛn kɔmɔt na di sɛl. We di jɛnɛtik chenj de, dis domɔt kin opin we i nɔ lɔk fayn . Dɔn di kalsiɔm kin kɔntinyu fɔ flɔ insay di sɛl. We dis kayn kalsiɔm we pasmak kin gɛda, di sayn dɛm fɔ Timothy syndrome kin apin, ɛn sɔm pan di bɔdi in sistɛm dɛn nɔ kin wok fayn.

Dɛn kalsiɔm atɔm ya rili impɔtant fɔ wi bɔdi:

• Kɔntrol di ilɛktrik aktiviti we di sɛl dɛn de du.
• Di sɛl dɛn kin tɔk to dɛnsɛf.
• Ɛp di mɔsul dɛn fɔ kɔntrakt.
• di kכntrol jin dεm we riliyt to di bren εn bon divεlכpmεnt di tεm we di εmbrayo de stej.

Aw dɔktɔ dɛn kin no bɔt dis?

Dɛn kin no se di sik we dɛn kɔl Timothy syndrome bifo ɔ afta dɛn bɔn am .

• We dɛn de du ɔltra saund skan we di pikin stil de na di bɛlɛ , di dɔktɔ go chɛk fɔ si if di pikin in at bit nɔmal. wan abnכmal hat ritm we de asai wit Timothy syndrome na we di at de bit sloslo na di pikin (fetal bradycardia) .
• afta dεn bכn di pikin, dεn kin du `EKG` (Electrocardiogram) tεst fכ chεk di pikin in at ritm.

Apat frɔm dat, dɛn tɛst ya kin ɛp bak fɔ kɔnfɔm dis kɔndishɔn:

• Jɛnɛtik tɛst fɔ no di jin we de mek pɔsin gɛt di sik .
• Ɔda imej tɛst dɛn (e.g. MRI, CT skan, X-ray) .
• Wan dɔktɔ we de mɛn di at fɔ chɛk di at fɔ chɛk if di at gɛt wɛlbɔdi .
• Wan nyurolɔjis in ɛgzamin fɔ chɛk aw di nervɔs sistɛm de wok .
• Blɔd tɛst fɔ si if ɔda sayn dɛn de .

Wetin na di tritmɛnt dɛm fɔ dis?

Di men tin we dɛn kin pe atɛnshɔn pan fɔ trit Timothy syndrome na fɔ kɔntrol di sik dɛn we kin mek pɔsin in layf de pan denja we kin afɛkt di at :

• Mεdikeshכn dεm fכ kכntrכl di at rεt (e.g. `beta-blockers`) .
• Yuz wan implanted cardioverter defibrillator (ICD) ɔ pesmɛka . Dɛn tin ya kin ɛp fɔ mek di at in ritm bak if i nɔ rɛgyula wantɛm wantɛm.

Apat frɔm dat, tritmɛnt dɛn de fɔ ɔda sayn dɛn we kin afɛkt di pikin:

• Fɔ gi antibayɔtik fɔ trit infɛkshɔn .
• Wan ɔspitul kɔrɛkshɔn fɔ di skin adheshon bitwin di finga dɛn .
• Yu fɔ wach di shuga we de na di blɔd ɔltɛm .
• Rifer to spɛshal ɛdyukeshɔn program fɔ ɛp wit di prɔblɛm dɛn we di pikin gɛt fɔ lan .

Ɛni kɔmplikeshɔn de pan di tritmɛnt?

Pikin dɛn we gɛt Timothy syndrome kin gɛt mɔ prɔblɛm wit dɛn at ɛn dɛn kin gɛt prɔblɛm wit dɛn at we dɛn de gi dɛn anestezi . Dis na tru mɔ fɔ di mɛrɛsin dɛn we dɛn kin yuz fɔ anestez we kin mek di QT intaval lɔng. So, i impɔtant fɔ tɛl yu dɔktɔ bɔt dis bifo yu du ɔpreshɔn.

Yu tink se dɛn go ebul fɔ avɔyd di sik we dɛn kɔl Timothy Syndrome?

Timothy syndrome nɔto rili sɔntin we pɔsin kin ebul fɔ avɔyd.Na bikɔs dis kin apin bikɔs ɔf wan chenj we de apin na di jɛnɛtiks. Yu kin gɛt am, ɔ i kin kam wantɛm wantɛm we yu nɔ gɛt ɛni famili istri.

Bɔt if yu de plan fɔ gɛt bɛlɛ ɛn yu want fɔ no di risk we yu gɛt fɔ bɔn pikin we gɛt wan sik lɛk Timothy syndrome, yu kin tɔk to yu dɔktɔ bɔt aw fɔ advays yu jɛnɛtiks ɛn tɛst fɔ yu jɛnɛtiks .

Wetin kin apin if mi pikin gɛt Timothy Syndrome?

No mɛrɛsin nɔ de fɔ dis sik, bɔt tritmɛnt kin mek di pikin nɔ gɛt bɛtɛ sik ɛn i kin mek dɛn liv bɛtɛ layf .

Di prɔgnosis fɔ pikin dɛn we gɛt siriɔs at sik nɔ fayn . biכs fכ di kכndishכn dεm lεk aritmia כ vεntrikulכr takikadia, di risk fכ day we dεn sכm pikin na bכt 80% . Dis kin sɔri fɔ yɛri, bɔt i impɔtant fɔ no di tru.

Bɔt pan di wan dɛn we nɔ gɛt bɛtɛ sik we dɛn kɔl Timothy syndrome, di tin we kin apin kin bɛtɛ .

Aw yu kin kia fɔ pikin we gɛt dis sik?

Bikɔs di sayn dɛm fɔ Timothy syndrome kin mek yu layf de pan denja, i impɔtant fɔ go to yu pikin in dɔktɔ ɔltɛm fɔ wach dɛn ɔl wɛlbɔdi, mɔ in at wɛlbɔdi . Fɔ chɛk ɔltɛm kin ɛp fɔ no ɛn trit ɛni nyu sayn kwik kwik wan.

If yu pikin gɛt dilɛys fɔ divɛlɔp ɔ gɛt prɔblɛm fɔ lan, spɛshal ɛdyukeshɔn program ɔ sɔpɔt tritmɛnt kin ɛp yu pikin fɔ du skul wok .

Ustɛm a fɔ kɛr mi pikin go to dɔktɔ? Wetin fɔ du we ɛnitin apin we nɔ izi fɔ du?

If yu pikin gɛt sɔm sayn dɛn lɛk Timothy syndrome, lɛk infekshɔn, i nɔ izi fɔ mek in bɔdi wam, ɔ i nɔ gɛt bɛtɛ blɔd shuga ɔltɛm , mek shɔ se yu go to dɔktɔ.

Mɔr siriɔs sayn dɛm, lɛk wae yu de siz ɛn yu at nɔr de bit ɔltɛm (espɛshali if di at bit kwik ɔr nɔr de bit ɔltɛm) , kin mek yu layf de pan denja ɛn yu nid fɔ go to dɔktɔ kwik kwik wan . If dis apin, go na di imejensi rum (ER) ɔ kɔl 911.

Us kwɛstyɔn dɛn yu fɔ aks yu pikin in dɔktɔ?

I fayn fɔ aks yu pikin in dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• Ɛni sayd ɛfɛkt de fɔ di mɛrɛsin we yu gi yu?
• Yu tink se dɛn nid fɔ du ɔpreshɔn pan mi pikin?
• Mi pikin gɛt wɛlbɔdi fɔ mek dɛn du am ɔpreshɔn?
• Aw a kin wach di sik dɛn we mi pikin gɛt?

Fɔ dil wit wan sik we nɔ kin apin we pɔsin kin gɛt we i kam pan jɛnɛtiks kin tranga fɔ nyu mama ɛn papa ɛn dɛn pikin dɛn. I impɔtant fɔ de wach yu pikin in wɛlbɔdi gud gud wan, mɔ fɔ si if di tritmɛnt de kɔntrol di sik dɛn ɛn i de mek yu pikin spɛn mɔ tɛm wit yu. As yu de tink bɔt aw yu pikin de kia fɔ yu, tink bɔt yusɛf ɛn yu famili. I impɔtant bak fɔ tɔk to pɔsin we sabi bɔt mental wɛlbɔdi biznɛs fɔ mek i nɔ strɛs ɛn wɔri, ɛn fɔ lan aw yu go ɛp yu pikin.

Mɛmba dɛn tin ya (Take-Home Message) .

Timothy syndrome na wan sik we nɔ kin apin so ɔltɛm, bɔt i kin rili siriɔs.

• Yu fɔ no am ɔltɛm, bikɔs na in kin afɛkt di at .
• Di sayn dɛm kin difrɛn frɔm wan pikin to ɔda pikin .
• If yu no di pikin kwik kwik wan ɛn trit am fayn, dat kin mek di pikin in layf bɛtɛ.
• I rili impɔtant fɔ fala di advays we dɔktɔ gi yu ɛn nɔ mis di tɛst dɛn we dɛn dɔn plan fɔ du .
• Nɔto yu wan de pan dis waka. Gɛt sɔpɔt frɔm dɔktɔ dɛn, advaysa dɛn, ɛn pipul dɛn we yu lɛk .

` Timothy syndrome, Timothy syndrome, jεnεtik sik, at sik, pikin sik, divεlכpmεnt delay, CACNA1C jin, sik dεm we nכ kin apin