Yu dɔn notis ɛni chenj ɔ prɔblɛm wit yu smɔl pikin in divɛlɔpmɛnt ɔ in fes? Sɔmtɛm, wan sik wae nɔr kin bɔrku lɛk Jacobsen Syndrome kin bi bihayn dis. Nɔ wɔri, wi go kip ɔltin simpul.
Wetin na di sik we dɛn kɔl Jacobsen Syndrome?
Fɔ tɔk am simpul wan, di sik we dɛn kɔl Jacobsen Syndrome na wan sik we nɔ kin apin so ɔltɛm we gɛt fɔ du wit di kromozom dɛn na wi bɔdi. Wi jin dεm de pan dεn kromozom dεm ya. insay dis kכndishכn, sεvεra jin dεm de mis כ dεlit frכm wan pat pan wi kromozom 11. fכ bi prεsis, dεn jin dεm ya de mis frכm di εnd pan di lכng an (q arm) fכ dis kromozom. Na dat mek dɛn kin kɔl am bak 11q tɛminal dilit disɔda.
Imajin, if wan smɔl pat pan di kromozom 11 nɔ de, di nɔmba fɔ di jin dɛn we di sik afɛkt bak go ridyus. Dɔn di sayn dɛm kin ridyus smɔl. Bɔt if big pat nɔ de, di sayn dɛn kin rili bad. we sכm pipul dεn gεt כnli sכm pat we nכ de dis we, dεn kכl am patchכl Jekobsen sεndrכm כ patchכl monosomy 11q. Monosomy na we wan pat pan wan kromozom pe nɔ de.
Pikin dɛn we gɛt Jacobsen Syndrome kin gɛt dilɛys fɔ divɛlɔp , dɛn kin gɛt prɔblɛm wit dɛn bihayvya , ɛn dɛn kin gɛt difrɛn fes dɛn . Bɔku pikin dɛn kin gɛt at prɔblɛm bak we dɛn bɔn wit . Dɛn kin gɛt wan sik bak we dɛn kɔl Paris-Trousseau syndrome.
Naw, no kɔmplit mɛrɛsin nɔ de fɔ dis, ɛn di tɛm we pɔsin kin liv kin difrɛn frɔm wan pɔsin to ɔda pɔsin.
Wetin na di sayn dɛm wae de sho se yu gɛt Jacobsen Syndrome?
Di sayn dɛm fɔ Jacobsen Syndrome kin difrɛn difrɛn wan bay di saiz ɛn usay di dilit de. Bɔku pipul dɛn kin delay fɔ mek dɛn ebul fɔ tɔk ɛn ebul fɔ muv . Dɛn kin gɛt bak prɔblɛm wit dɛn maynd ɛn ɔda prɔblɛm dɛn we kin mek dɛn nɔ ebul fɔ lan .
Bɔrku pikin dɛm wae gɛt Jacobsen Syndrome kin gɛt prɔblɛm wit dɛn bihayvya bak . Fɔ ɛgzampul, di we aw pɔsin kin biev we i kin fos pɔsin ɛn we i kin pe atɛnshɔn fɔ shɔt tɛm. Dɛn kin no bak se bɔku pikin dɛn gɛt wan sik we dɛn kɔl Attention-Deficit/Hyperactivity Disorder (ADHD) . Dis kכndyushכn kin gεt bak wit inkrεsiv risk fכ gεt Autism Spectrum Disorders .
Speshal tin dɛn we pɔsin kin si na in fes
Pikin dɛn we gɛt di sik we dɛn kɔl Jacobsen Syndrome gɛt sɔm difrɛn tin dɛn na dɛn fes. Dɛn tin ya na:
- Fɔ gɛt big ed - makrosɛfali
- Fɔrɛst we pɔynt bikɔs ɔf wan abnɔmaliti na di skel (trigonocephaly) .
- Smɔl yes dɛn we nɔ gɛt bɛtɛ sɛt
- Ayz dɛm we de fa frɔm dɛnsɛf - hypertelorism
- Di aylid dɛn we de drɔp - ptosis
- di prεsεns fכ wan skin fold na di insay kכna na di yay - epikanthal fold dεm
- Wid nos brij
- Kɔna dɛn we de tɔn dɔŋ na di mɔt
- Wan tin we de ɔp lip
- Wan smɔl ɔnda-kɔt
Ɔda tin dɛn we de apin
Yu kin si bɔku ɔda tin dɛn:
- Di at prɔblɛm dɛn we dɛn bɔn wit
- I nɔ izi fɔ it
- Di delay fɔ gro bifo ɛn afta dɛn bɔn am
- Short ayt
- Sayn ɛn yes infɛkshɔn ɔltɛm
- Di nɔmal tin dɛn we de apin na di dijestiv sistɛm, di kidni dɛn, ɛn di say dɛn we dɛn kin bɔn
Bɔku pipul dɛn we gɛt Jacobsen Syndrome gɛt wan sik bak we dɛn kɔl Paris-Trousseau syndrome . Dis kin afɛkt yu pikin in pletlɛt dɛn . Plɛtlɛt na wan kayn sɛl we de ɛp fɔ mek blɔd klɔt. Wit Paris-Trousseau syndrome, di pikin de pan de risk fɔ blɔd we nɔrmal ɔlsay na in layf, ɛn i kin brus izi wan.
Wetin na de tin wae kin mek pɔrsin gɛt Jacobsen Syndrome?
Jacobsen Syndrome na wan sik we de ambɔg di kromozom . as yu no, kromozom na di tin dεm we gεt wi jεnεtik infכmeshכn (jin dεm). Dɛn jin ya de sho aw wi bɔdi fɔ divɛlɔp ɛn wok. nכmal wan, 22 pe kromozom dεm we gεt nכmba de na di mכtalman bכdi, plεs wan pe fכ sεks kromozom dεm. εvri kromozom gεt sכt an (p arm) εn wan lכng an (q arm).
pan sכm pipul dεm, dεn kin dεlit sεvεra jin dεm we de na di εnd pan di lכng (q) an na di kromozom 11. di כda haf pan di kromozom 11 nכmal wan de intakt. Dis na di tin we kin mek pɔsin gɛt di sik we dɛn kɔl Jacobsen Syndrome. Di mɔ di dilit saiz big, na di mɔ di sayn dɛn kin rili bad. dipכnt pan di sayz fכ di dilit, di rijyכn kin gεt enisay frכm 170 to mכr dan 340 jin dεm. di jin dεm na dis rijyכn de mek wi at, bren, εn fes fכ divεlכp di rayt we.
Dis na dominant ɔ recessive?
Dominant ɔ recessive de tɔk bɔt aw yu kin gɛt yu jin frɔm yu mama ɛn papa.
Bɔt,Bɔrku tɛm, Jacobsen Syndrome nɔr kin kɔmɔt frɔm am. Dat min se, i nɔ gɛt frɔm di mama ɛn papa. bכku tεm i kin kכz fכ wan random mistek we di sεl dεm we de divεlכp we di εmbrayo de divεlכp, we kin mek wan pat pan di kromozom lכs. Natin nɔ de we di mama ɛn papa nɔ go du fɔ mek i nɔ apin, ɛn natin nɔ de we dɛn go du fɔ mek i nɔ apin. Pipul wae gɛt Jacobsen Syndrome nɔr kin gɛt famili histri bɔt dis sik. Bɔt, dɛn kin pas di sik to dɛn pikin dɛn.
Na smɔl tɛm nɔmɔ, pipul dɛm wae gɛt Jacobsen Syndrome kin gɛt dis sik frɔm mama ɔ papa wae nɔr gɛt ɛni sayn. Dis kin apin we mama ɔ papa gɛt wan kɔmpleks jɛnɛtik ivin we dɛn kɔl balans translokeshɔn . Fɔ tɔk am simpul wan, wan pat pan di kromozom 11 ɛn wan pat pan ɔda kromozom de chenj ples. Dis nɔ de ridyus di jɛnɛtik matirial, so di mama ɛn papa nɔ de sho di sayn dɛn. Bɔt we dɛn pas dɛn kromozom ya, di pikin dɛn nɔ kin balans.
Wetin na di tin dɛn we kin mek pɔsin gɛt dis sik?
Jacobsen Syndrome na wan sik wae de kam pan pɔrsin in jɛnɛtiks wae kin afɛkt ɛnibɔdi. Sɔm risach dɔn sho se i kin afɛkt gyal pikin dɛn smɔl mɔ.
Aw dɔktɔ dɛn kin no bɔt dis?
Yu dɔktɔ kin ebul fɔ no se yu gɛt di sik we dɛn kɔl Jacobsen Syndrome we yu gɛt bɛlɛ. If di ɔltra saund skan dɛn we dɛn kin du bifo dɛn bɔn pikin , mek yu gɛt ɛnitin fɔ wɔri bɔt, yu dɔktɔ go tɛl yu fɔ du mɔ tɛst. di kכmכn tεst dεm fכ prεnatal jεnεtik skrεnin inklud:
- Non-invasive prenatal testing (NIPT): Dis min se yu fɔ tek smɔl pat pan yu pikin in DNA frɔm wan sɛmpul na yu blɔd ɛn chɛk fɔ ɛni abnɔmal tin na di nɔmba fɔ di kromozom dɛn.
- Chorionic villus sampling (CVS): di dכkta de yuz nidul fכ tek sεmpl fכ di sεl dεm frכm di plasεnta.
- Amniocentesis: di dכkta de yuz nidul fכ tek sεmpl fכ di amniotic fluid we de na di uterus.
Afta di pikin dɔn bɔn, di pikin in dɔktɔ kin no se i gɛt Jacobsen Syndrome bay we i du tɛst fɔ no if i gɛt jɛnɛtiks . Insay dis jenɛtik tɛst, di dɔktɔ kin tek di pikin in blɔd ɛn luk am wit maykroskɔp. Dɛn kin stɛyn di kromozom dɛn we de na di sampul, we tan lɛk barɔd. dis kin luk fכ di kromozom dεm we brok, di jin dεm we nכ de. Bɔku tɛm, di pat we brok de na di kromozom 11. Bɔt dɛn kin nid fɔ du mɔ tɛst fɔ no usay di bɔdi brok.
Wan ɔda tɛst na Maykroɛri Kɔmparativ Jɛnomik Haybridayzeshɔn (Arɛy CGH).. sכmtεm sכmtεm sכm sכm chenj dεm na di kromozom dεm, we tu sכm fכ si כnda maykroskכp, kin mek di sik we dεn kכl Jacobsen Syndrome. Na da tɛm de dɔktɔ dɛn kin du dis Array CGH tɛst. dis de sho sכm sכm chenj dεm na di DNA insay di pikin in kromozom dεm. I kin no if di DNA dɔn dupliket, disrɔb, ɔ i nɔ de.
Aw dɛn kin trit di sik we dɛn kɔl Jacobsen Syndrome?
Nɔr mɛrɛsin nɔr de fɔ di sik we dɛn kɔl Jacobsen Syndrome. Di tritmɛnt kin pe atɛnshɔn mɔ pan:
- Fɔ mek yu ebul fɔ kɔntrol di sik dɛn we yu pikin gɛt
- Fɔ ɛp am fɔ rich in divɛlɔpmɛnt maylston dɛn
- Fɔ avɔyd prɔblɛm wit wɛlbɔdi biznɛs
Fɔ pikin dɛn we nɔ kin izi fɔ it, dɔktɔ dɛn kin tɛl dɛn fɔ yuz gastrostomy tube (G-tube) . dis tכb dεn de put am dεrekt insay di pikin in bεlε fכ gi it. כpεrayshכn we dεn kכ l fכndoplikεsh כn kin kכrekt prכblεm wit di valv we de dכn na di εsophagus.
Yu pikin kin nid ɔda ɔpreshɔn. Fɔ ɛgzampul, ɔpreshɔn fɔ kɔrɛkt di prɔblɛm dɛn we de na di kranio fes, lɛk trigonocephaly . Dɛn kin nid ɔpreshɔn bak fɔ kɔrɛkt di prɔblɛm dɛn we pɔsin gɛt we i de si ɔ di yay. Dɛn kin nid ɔpreshɔn bak fɔ kɔrɛkt di skel, at, ɛn ɔda tin dɛn we nɔ fayn.
Yu pikin in dɔktɔ kin gi yu sɔm mɛrɛsin fɔ sɔm at prɔblɛm dɛn. Fɔ ɛgzampul, anti-arrhythmics . Dis na mɛrɛsin wae de ɛp fɔ mek yu nɔr gɛt ɔr kɔrɛkt di at ritm dɛm wae nɔr fayn. Dɛn kin gi yu mɛrɛsin bak fɔ mek yu nɔ gɛt wata . Dis na mɛrɛsin dɛn we de ɛp fɔ pul di wata we pasmak na di bɔdi.
Dɔktɔ dɛn kin tɛl yu fɔ yuz glas fɔ kɔrɛkt yu, kɔntakt lens, ɔ ɔpreshɔn fɔ si if yu yay nɔ de wok fayn.
Dɔktɔ dɛn kin gi blɔd ɔ put pletlɛt fɔ trit di bad tin dɛn we di sik we dɛn kɔl Paris-Trousseau syndrome kin du . Dɛn kin gi yu bak wan mɛrɛsin we dɛn kɔl desmopressin , we kin ɛp yu blɔd fɔ klɔt.
Yu pikin go mɔs rich in divɛlɔpmɛnt maylston dɛn sɔm tɛm. Bɔt if dɛn du sɔntin kwik kwik wan , dat kin ɛp dɛn fɔ du ɔl wetin dɛn ebul fɔ du. Yu pikin in dɔktɔ kin tɛl yu fɔ du dɛn tin ya:
- Speshal rimɛdial ɛdyukeshɔn
- Fizik tɛrapi
- Tɛrapi fɔ tɔk
Wetin a kin ɛkspɛkt if mi pikin gɛt di sik we dɛn kɔl Jacobsen Syndrome?
De layf wae pipul dɛm wae gɛt Jacobsen Syndrome kin liv kin difrɛn difrɛn wan bay aw dɛn sik kin tranga. bikoz fכ di at kכndishכn dεm εn di blכd kכlכt prכblεm, lεk 20% pan di pikin dεm we gεt Jacobsen Syndrome de day bifo dεn rich 2 ia.
Bɔt bɔku pikin dɛn we gɛt di sik we dɛn kɔl Jacobsen Syndrome dɔn liv te dɛn big. Big pipul dɛm wae gɛt dis sik kin liv gladi, fulfil layf wit difrɛn digri dɛm fɔ indipɛndɛns.
Yu tink se dɛn kin ebul fɔ avɔyd di sik we dɛn kɔl Jacobsen Syndrome?
Bikɔs na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, dɛn nɔ kin ebul fɔ avɔyd di sik we dɛn kɔl Jacobsen Syndrome. If yu gɛt bɛlɛ ɔ yu plan fɔ gɛt bɛlɛ, aks yu dɔktɔ bɔt aw fɔ advays yu bɔt yu jɛnɛtiks . Wan pɔsin we de advays yu bɔt yu jɛnɛtiks kin ɛp yu fɔ ɔndastand yu risk fɔ gɛt pikin we gɛt Jacobsen Syndrome.
Fɔ no se yu pikin gɛt Jacobsen Syndrome kin mek yu fred. Nɔ panik, bɔt tek tɛm fɔ lan bɔku tin bɔt aw yu pikin gɛt di sik. If i pɔsibul, tray fɔ fɛn dɔktɔ we ɔndastand yu pikin in sik. I kin gi yu pikin di bɛst tritmɛnt.
Fɔ ɛp yu fɔ bia wit di prɔblɛm we yu pikin gɛt, luk insay sɔpɔt grup dɛn . Ɔda pipul dɛn we dɔn de na di sem tin lɛk yu kin gi yu di no ɛn trɛnk we yu nid fɔ ɛp yu pikin.
Mɛsej we dɛn kin kɛr go na os
Jacobsen Syndrome na wan sik wae nɔr kin bɔrku ɛn kin kin tranga, bɔt mɛmba, nɔr to yu wan.
- Dis kin apin bikɔs ɔf wan random genetic mutation , nɔto di mama ɛn papa fɔlt.
- Fɔ no di pikin kwik kwik wan ɛn fɔ ɛp am rili impɔtant fɔ mek di pikin in layf bɛtɛ.
- Aks ɛp frɔm spɛshal dɔktɔ dɛn, tritmɛnt pipul dɛn, ɛn advaysa dɛn .
- Di trɛnk ɛn ɛkspiriɛns we dɛn kin gɛt frɔm sɔpɔt grup dɛn wit ɔda mama ɛn papa dɛn rili impɔtant.
- Ɔl pikin difrɛn. Trit yu pikin wit lɔv ɛn peshɛnt akɔdin to wetin i ebul fɔ du ɛn wetin i nid.
If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ shek fɔ tɔk to yu dɔktɔ.
` Jacobsen Syndrome, kromozom abnכmaliti, kromozom 11, jεnεtik sik, divεlכpmεnt dilay, Paris-Trousseau sεndrכm, kכnεnital at dεfεkt, jεnεtik kכnsεl
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