Yu want fɔ no bɔt Marfan Syndrome? Mek wi tok!

Yu dɔn ɛva notis se sɔm pipul dɛn kin lɔng pas ɔda pipul dɛn, i kin tan lɛk se dɛn an ɛn fut, dɛn finga dɛn, ɛn ɔda tin dɛn lɔng pas aw dɛn kin du? Ɔ dɛn gɛt wan shep we nɔ kɔmɔn na dɛn chɛst, ɔ dɛn nɔ de si fayn? Sɔmtɛm, wit dɛn kayn sik ya, sɔm prɔblɛm kin de wit de at ɛn yay. Na dat na di sik we dɛn kɔl Marfan Syndrome. Dis na wan sik we pɔsin kin gɛt we i kam pan jɛnɛtiks. Nɔ wɔri, lɛ wi tɔk mɔ bɔt dis.

Wetin na di sik we dɛn kɔl Marfan Syndrome? Fɔ tɔk am simpul wan...

Fɔ tɔk am simpul wan, Marfan Syndrome na wan jenɛtik kɔndishɔn we de afɛkt di kɔnɛktiv tisu na wi bɔdi. Naw yu go de wɔnda wetin na kɔnɛktiv tisu. Tink bɔt am, kɔnɛktiv tisu na spɛshal kayn tisu we de kɔnɛkt difrɛn pat dɛn na wi bɔdi, lɛk skin, bon, blɔd vesel, ɛn at valv, ɛn i de ɛp fɔ gi dɛn trɛnk ɛn fleksibul.

Insay pɔsin we gɛt Marfan syndrome, dis kɔnɛktiv tisu wik smɔl , ɛn i tu elastik . I tan lɛk rɔba band, bɔt i nɔ gɛt bɛtɛ trɛnk. Dis na di rizin we mek dis kכndyushכn kin afekt difrεn sistεm dεm na di bכdi. I kin mɔs afɛkt di at, blɔd vesel, yay, bon ɛn joyn .

dכkta dεn kכl dis jεnεtik kכndishכn wit "vεriεbul εksprεshכn." Dis min se nɔto ɔlman we gɛt dis sik go gɛt di sem sayn. Sɔm pipul dɛn nɔ go gɛt bɔku sayn dɛn, ɛn ɔda wan dɛn go gɛt sɔm ɔda wan dɛn. Ɛn di tɛm we i kin tek fɔ mek di sik sho kin difrɛn frɔm wan pɔsin to ɔda pɔsin.

Marfan syndrome na wan sik we kin de we dɛn bɔn am . Bɔt sɔmtɛm, di sayn dɛm kin kam fɔ no bɔt yu ɛn yu kin bi yɔŋ pɔsin ɔr pas dat we dɛn no se yu gɛt dis sik. Na wan pan di kɔmɔn kɔnektiv tisu disɔda dɛm we dɛn kin gɛt frɔm dɛn mama ɛn papa. I kin afɛkt lɛk wan pan ɛvri 3,000 to 5,000 pipul dɛn.

Wetin kin bi di sayn dɛm fɔ dis?

Marfan syndrome gɛt tu men tin dɛn. Wan na di aorta rut aneurysm (aortic root aneurysm) . Dis na we di men blɔd vesel we de kɛr blɔd kɔmɔt na wi at go na di bɔdi (di aorta) we de bɔl ɔ we de big. Di ɔda wan na wan ay lens we dɔn kɔmɔt (ectopia lentis) .

Dɛn tu men tin ya kin mek yu gɛt sɔm kayn sik lɛk:

• We yu at de bit na we yu de fil we yu at de bit fast fast ɛn yu chɛst de bit.
• Fɔ fil se yu at de bit lawd wan ɛn kwik kwik wan.
• Ay pen.
• I nɔ kin izi fɔ yu fɔ blo.
• Di we aw pɔsin de si tin kin chenj; fכ egzampl, astigmatism εn fכ si tin we de nia pasmak.

Bɔt bikɔs di sik we dɛn kɔl Marfan syndrome kin afɛkt ɔda pat dɛn na di bɔdi, ɔda sayn dɛn kin apin. Fɔ ɛgzampul, di sayn dɛm we yu kin gɛt na yu bɔdi kin bi:

• Di fes kin tan lɛk se i lɔng smɔl ɛn i kin smɔl.
• Di an, leg, ɛn finga dɛn kin tan lɛk lɔng tɛm we yu kɔmpia am to ɔda pat dɛn na di bɔdi.
• Tit we krawd na tit we dɛn pul togɛda ɛn i tan lɛk se dɛn dɔn stɛk pan dɛnsɛf.
• Skɔliosis we de mek pɔsin gɛt sik.
• Flat fut dɛn.
• Wiknɛs ɛn izi fɔ pul di jɔyn dɛn.
• Stretch mak dεm de apin na di skin ivin if di bכdi wet nכ chenj bכku bכku wan.
• Chɛst we dɔn sink (pectus excavatum) ɔ chɛst we de kɔmɔt na do (pectus carinatum).
• I gɛt lɔng lɔng bɔdi we tan lɛk tin.

Wetin na de prɔblɛm wae kin kam wit dis sik?

Marfan syndrome kin mek yu gɛt difrɛn prɔblɛm dɛn we kin afɛkt yu at, yay, ɛn yu lɔng.

Di kɔmplikeshɔn dɛm we kin kam pan di at ɛn di blɔd na di kɔmplikeshɔn dɛm we kin kam pan Marfan sindrom. Dɛn tin ya kin bi:

• di aorta disekshכn: Dis na we di layt we de insay di wכl na yu aorta de te. Dis na imejensi.
• At valv sik: Marfan syndrome kin mek di tisu na di hat valv wik ɛn fleksibul.
• At we big: As tɛm de go, yu at mɔsul kin big ɛn wik.
• di at bit we nɔ de bit (Arrhythmia): Dis sik kin gɛt fɔ du wit di mitral valv prolaps.
• Bren aneurism: Na we wik ples we wik na blɔd vesel we de insay ɔ rawnd di bren de bul.

Di prɔblɛm dɛn we kin apin na di yay kin bi:

• Katarakt we pɔsin kin gɛt.
• Glaukoma kɔndishɔn we pɔsin kin gɛt.
• Di retina we de kɔmɔt na di bɔdi.

di chenj dεm na di lכng tisu we de asai wit Marfan sεndrכm kin mek di risk fכ:

• Asma we gɛt asma.
• Bronkitis we dɛn kɔl Bronchitis.
• Kronik ɔbstrɔktiv pulmonari sik (COPD).
• Di lɔng we dɔn kol / nyumotɔraks.
• Emphysema we de mek pɔsin gɛt sik.
• Nyumonia.

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Marfan syndrome?

Dis kin bi bikɔs ɔf wan jɛnɛtik we de chenj . spεshal wan, wan chenj na wan jin – di FBN1 jin – we de tεl wi sεl dεm fכ mek wan protin we dεn kכl fibrilin . dis fibrilin na wan mכtalman kכmכpכnt fכ di elastik fayb dεm na wi kכnektiv tisu dεm.

Bɔrku tɛm, Marfan syndrome na wan sik wae kin gɛt frɔm wan pan di mama ɛn papa . dis na כtosom dכminant inhεritεns.Na sik we pɔsin kin gɛt frɔm in mama ɛn papa. Dat min se di sik kin kam bay we i gɛt di jin frɔm wan mama ɔ papa. Pɔsin wae gɛt Marfan syndrome gɛt 50% chans fɔ pas di sik to ɛni wan pan in pikin dɛm.

Bɔt insay lɛk 25% pan di kes dɛm, dis kɔndishɔn kin apin bikɔs ɔf nyu jɛnɛtik chenj (we dɛn nɔ kin no ɛni kɔz fɔ), we nɔ gɛt ɛni famili histri.

Aw dɔktɔ dɛn kin no se i gɛt wan sik we dɛn kɔl Marfan syndrome?

Bikɔs di sik we dɛn kɔl Marfan syndrome kin afɛkt bɔku difrɛn tisu dɛn na di bɔdi, yu kin nid fɔ gɛt ɛp frɔm wan tim we gɛt spɛshal pipul dɛn fɔ no di sik ɛn mek wan tritmɛnt plan.

Fɔs, dɔktɔ dɛn kin du dɛn tin ya:

• Aks bɔt yu mɛdikal istri.
• Dɛn go du wan bɔdi ɛgzamin fɔ si if ɛni tipik sayn de fɔ di sik.
• Fɔ aks bɔt yu sik dɛn.
• Aks if ɛnibɔdi na di famili dɔn gɛt wɛlbɔdi prɔblɛm we gɛt fɔ du wit di sik we dɛn kɔl Marfan syndrome.

Dɔktɔ dɛn kin yuz wan sɛt fɔ krayteria we dɛn kɔl "Ghent nosology" fɔ no di sik we dɛn kɔl Marfan syndrome. Dɛn kin advays fɔ du dɛn tɛst ya fɔ kɔnfirm di sik ɔ fɔ pul ɔda kayn sik dɛn we fiba am:

• CT skan `(Kɔmpyut tomografi - CT skan)`.
• X-ray na di chɛst.
• E.C.G., ɛn ɔda pipul dɛn. Test `(Ilektrokardiogram - ECG)`.
• Ekokardiogram fɔ mek yu gɛt di sik.
• MRI skan (Magnɛtik rɛsɔnans imej - MRI) .

jεnεtik tεst (dis na bכdi tεst) kin luk fכ chenj dεm na di FBN1 jin, we bכku tεm de rispansabl fכ Marfan sεndrכm. Bɔt nɔto ɔltɛm di tin dɛn we kin kɔmɔt frɔm dɛn jenɛtik tɛst dɛn ya kin klia. Dis tεst kin luk bak fכ כda jεnεtik kכndyushכn dεm we kin mek yu gεt di sem kayn sik, lεk Loeys-Dietz syndrome.

Aw dɛn kin trit di sik we dɛn kɔl Marfan syndrome?

No mɛrɛsin nɔ de fɔ mɛn di sik we dɛn kɔl Marfan syndrome. Bɔt difrɛn tritmɛnt ɛn we dɛn de we go ɛp yu fɔ kɔntrol yu sik dɛn ɛn mek yu nɔ gɛt prɔblɛm dɛn. Dɛn tin ya na:

• Di mɛrɛsin dɛn we dɛn kin yuz.
• Rutin mɛdikal monitarin.
• Fɔ gayd fɔ du fizik aktiviti.
• Ɔpreshɔn.

Yu nid fɔ gɛt tritmɛnt plan we spɛshal fɔ yu wɛlbɔdi prɔblɛm.

Mɛrɛsin dɛn we dɛn kin yuz

Sɔm mɛrɛsin kin ɛp fɔ mek yu nɔ gɛt ɔ kɔntrol prɔblɛm dɛn:

• Beta-blockers: Dɛn wan ya de mek di big at dɛn nɔ gro ɔ slo. Dɔktɔ dɛn kin se yu fɔ bigin dis tritmɛnt kwik kwik wan fɔ pipul dɛn we gɛt Marfan syndrome. If yu nɔ ebul fɔ tek dɛn tin ya bikɔs ɔf wan sik lɛk asma ɔ bikɔs ɔf di sayd ɛfɛkt dɛm, yu dɔktɔ kin gi yu wan kalsiɔm chanɛl blɔk .
• Angiotensin II rεsεptכr blכk dεm (ARB dεm):Dɛn mɛrɛsin ya kin ɛp bak fɔ slo di rit we di big intestin de gro.

If yu gɛt ɔpreshɔn pan yu at valv bikɔs ɔf di sik we dɛn kɔl Marfan syndrome, yu go nid fɔ tek mɛrɛsin we de mek yu nɔ gɛt blɔd fɔ di res ɔf yu layf.

Di dɔktɔ we de kia fɔ am ɔltɛm

Yu fɔ de du dɔktɔ ɛgzam ɔltɛm fɔ dɛn tin ya:

• di at εn bכdi vεsεl dεm – spεshal wan di sayz fכ yu big dayafragm.
• Yay.
• Skel sistɛm we de na di skel.

Dis we ya, yu mɛdikal tim kin wach di chenj dɛn ɛn no ɛni prɔblɛm we kin apin kwik kwik wan. Dɛn go tɛl yu aw ɔltɛm yu fɔ kam insay fɔ dɛn tɛst ya.

Dis monitarin kin inklud imej tɛst lɛk:

• CT skan dɛn we dɛn kin du.
• Ikokadiogram dɛn we dɛn kin yuz.
• MRI skan dɛn we dɛn kin du.

Fɔ gayd fɔ du fizik aktiviti

If yu tray tranga wan fɔ du yu bɔdi wok tranga wan, dat kin mek yu gɛt prɛshɔn pan yu dayafragm ɛn ɔda kɔnektiv tisu dɛn we Marfan sindrom afɛkt. So, yu fɔ wok wit pɔsin we de mɛn yu bɔdi fɔ fɛn ɛksesaiz ɛn spɔt dɛn we sef we go fayn fɔ yu.

Dɔktɔ dɛn kin se yu fɔ du ɛksɛsayz we nɔ gɛt bɔku pawa, bɔt if dɛn dɔn du ɔpreshɔn pan yu mitral valv ɔ valv rut, yu go nid fɔ du ɛksɛsayz we smɔl pas dat.

Jɛnɛral wan, yu fɔ avɔyd tin dɛn lɛk:

• Aktiviti dɛm wae gɛt fɔ du wit fɔ ol yu briz ɛn fɔ tray tranga wan (Valsalva maneuver).
• Kɔntakt spɔt.
• Ɛksesaiz te yu taya.
• Dɛn kɔl ɛksesaiz dɛn we gɛt fɔ du wit fɔ ol wan pozishɔn fɔ lɔng tɛm, lɛk plank ɛn sidɔm na di wɔl, isometrik ɛgzampul.

Ɔpreshɔn fɔ di at

di men gol dεm fכ at כpεrayshכn fכ Marfan sεndrכm na fכ mek yu aorta valv nכ dilayt כ rupchכ εn fכ trit valv prכblεm. Yu ɛn yu mɛdikal tim go disayd togɛda if yu nid ɔpreshɔn, afta yu dɔn tink bɔt sɔm tin dɛn.

Dis na di ɔpreshɔn ɛn prɔsidyu dɛm we dɛn kin du fɔ di sik we dɛn kɔl Marfan syndrome:

• Aorta valv ripa ɔ riples.
• Ascending aortic aneurysm ripa fɔ di wan dɛn we de du di wok.
• Mitral valv ripa ɔ riplesmɛnt.
• di tכraks εndovaskulεr aorta ripa.

If yu nid ɔpreshɔn, tray fɔ pik wan big ɔspitul we gɛt ɛkspiriɛns wit di kayn ɔpreshɔn we yu de du. Yu ɔspitul tim fɔ ɔndastand gud gud wan bak bɔt di sik we dɛn kɔl Marfan syndrome.

Wetin yu kin ɛkspɛkt we yu de liv wit di sik we dɛn kɔl Marfan syndrome?

If yu gɛt Marfan syndrome, yu go nid fɔ go na dɔktɔ ɔltɛm ɛn fɔ no bɔt yu bɔdi. Marfan syndrome nɔr kin afɛkt ɔlman di sem we, so yu joyn wit dis kɔndishɔn go bi yu wan fɔ yu. Yu mɛdikal tim go ɛp yu fɔ ajɔst to di chenj dɛn we de apin na yu kɔndishɔn.

Mɛmba se nɔto yu wangren de. Di mɛdikal tim de wit yu ɔltɛm.

Bikɔs ɔf di no bɔt di sik we dɛn kɔl Marfan syndrome ɛn di impɔtant tritmɛnt dɛm we dɛn dɔn gɛt, pipul dɛm wae gɛt Marfan syndrome naw de liv lɔng pas aw dɛn bin de liv bifo di 1970 dɛm. De layf wae pɔrsin wae gɛt Marfan syndrome kin liv naw, na lɛk di wan wae pɔrsin wae nɔr gɛt dis sik kin liv. Bɔt di layf we man dɛn kin liv kin shɔt pas di wan we uman dɛn kin liv.

Di sik we de mek pɔsin in at ɛn di blɔd kin stil bi di men tin we kin mek pɔsin day pan Marfan sindrom. Dis kin bi mɔ fɔ pipul dɛn we kin day wantɛm wantɛm we dɛn nɔ no di sik. Di risk kin pasmak bak pan di wan dɛm wae kin gɛt di sik we dɛn kin gɛt let.

Marfan syndrome ɛn mental wɛlbɔdi

Bɔrku tin de wae kin afɛkt yu maynd wɛl bɔdi ɛn kwaliti layf wae yu de liv wit Marfan syndrome. Fɔ ɛgzampul:

• Marfan syndrome na wan sik wae nɔr de dɔn ɛn i nid fɔ gɛt tritmɛnt fɔ ɔl in layf.
• Aw dis sik kin afɛkt aw yu luk.
• Pen ɛn taya we nɔ de dɔn.
• Ristrikshɔn pan fyzikal aktiviti (dɛn tin ya kin afɛkt bak sɔshal rilayshɔnship).
• Di prɛshɔn we famili planin kin gɛt.

Bikɔs ɔf dis, yu kin de pan big risk fɔ tin dɛn lɛk:

• Wɔri.
• Pwɛl at.
• Fɔ gɛt ɛkspiriɛns we ɔda pipul dɛn de buli yu.
• Soshal ayzolayshɔn.

Di wan dɛm wae de kia fɔ pipul dɛm ɛn dɛn fambul dɛm wae gɛt Marfan syndrome dɛnsɛf kin gɛt dɛn kayn mɛntɛl hεlth prɔblɛm ya.

Yu maynd wɛlbɔdi impɔtant jɔs lɛk aw yu bɔdi impɔtant.

If yu de fil strɛs bikɔs ɔf di sik we dɛn kɔl Marfan syndrome, nɔ fɔgɛt fɔ aks fɔ ɛp frɔm pɔsin we sabi bɔt mental wɛlbɔdi biznɛs, lɛk pɔsin we de stɔdi bɔt pɔsin in maynd . Yu go si bak se i go fayn fɔ jɔyn sɔpɔt grup.

Layf wit Marfan syndrome kin fil lɛk wan domɔt we de rɔn fɔ apɔntin, tritmɛnt, ɛn chenj dɛn layf. Bɔt ɛvri tɛst ɛn ɛvri apɔntinmɛnt de ɛp yu fɔ avɔyd prɔblɛm dɛn we kin kam wit Marfan sindrom ɛn liv fayn layf as yu ebul. Yu mɛdikal tim de wit yu tru ɔl dis. Gɛt dɛn sɔpɔt ɛn gayd. If yu fil se ɔl dis de mek yu fil bad, go to ɛp frɔm pɔrsin wae sabi bɔt mɛntɛl hεlth.

Di tin dɛn we impɔtant pas ɔl fɔ mɛmba (Take-Home Message) .

Okay, so lɛ wi luk sɔm pan di men pɔynt dɛn we yu nid fɔ mɛmba frɔm wetin wi dɔn tɔk bɔt:

• Marfan syndrome na wan sik we pɔsin kin gɛt we i kam pan jɛnɛtiks., i de afɛkt di kɔnektiv tisu dɛn na wi bɔdi.
• Dis kin afɛkt difrɛn say dɛm lɛk di at, di yay, ɛn di bon dɛm. I rili impɔtant fɔ mek yu de chɛk yu dɔktɔ ɔltɛm .
• Pan ɔl we no kɔmplit mɛrɛsin nɔ de fɔ dis, gud tritmɛnt dɛn de fɔ kɔntrol di sik dɛn ɛn fɔ mek dɛn nɔ gɛt prɔblɛm dɛn.
• Fɔ fala yu dɔktɔ in instrɔkshɔn dɛn di rayt we. Tek yu mɛrɛsin dɛn di rayt tɛm ɛn gɛt di tɛst dɛn we dɛn tɛl yu fɔ du.
• Yu fɔ rili tek tɛm we yu de du tin dɛn we yu de du fɔ yu bɔdi. Aks yu dɔktɔ ɔ pɔsin we de mɛn yu bɔdi us ɛgzampul dɛn we fayn fɔ yu.
• Tek kia ɔf yu maynd wɛlbɔdi bak. Nɔ shem fɔ go fɛn ɛp if yu nid am.
• Nɔto yu wan, yu gɛt mɛdikal tim, famili, ɛn padi dɛn fɔ ɛp yu.

A op se dis infɔmeshɔn go ɛp yu. If yu gɛt ɛni ɔda kwɛstyɔn, nɔ shek fɔ aks yu dɔktɔ.

` Marfan Syndrome, jεnεtik sik, kכnektiv tisu, at sik, bon, yay, fibrilin