Yu kin fil bak se yu lɔng fa fawe ɛn yu gɛt lɔng an ɛn fut pas yu padi dɛn? Ɔ yu jɔyn dɛn kin brok izi wan? Yu dɔn gɛt fɔ wɛr glas frɔm we yu smɔl? If wan ɔr mɔr pan dɛn tin ya kin apin to yu, i kin rili impɔtant fɔ mek yu no bɔt de sik wae wi de tɔk bɔt tide, wae dɛn kɔl Marfan Syndrome. Pan ɔl we wi nɔ sabi dis smɔl, lɛ wi tɔk bɔt am simpul wan.
Fɔ tɔk am simpul wan, wetin na Marfan Syndrome?
Tink bɔt wi bɔdi lɛk bildin we dɛn bil fayn fayn wan. Dɛn kin ol di brik dɛn, di wɔl dɛn, ɛn di ruf na dis bildin togɛda ɛn mek dɛn strɔng wit simen mɔta. Semweso, wan spɛshal kayn tisu de we de kɔnɛkt ɔltin na wi bɔdi, lɛk ɔgan, bon, mɔsul, ɛn blɔd vesel, ɛn gi dɛn di trɛnk ɛn fleksibiliti we dɛn nid. insay mεdikal, wi kin kכl dis "kכnektiv tisu." Dɛn tin ya tan lɛk di ‘gum’ we de na wi bɔdi.
Marfan Syndrome na wan sik wae de kam pan pɔrsin in jɛnɛtiks. Pɔsin we gɛt dis sik gɛt wik kɔnɛktiv tisu, ɔ fɔ tɔk mɔ, i tu lɔs. dis min se di kכnektiv tisu nכ strכng bכku εn i de elastik. Bikɔs dis kɔnɛktiv tisu de ɔlsay na di bɔdi, di sik we dɛn kɔl Marfan Syndrome kin afɛkt sɔm pat dɛn na wi bɔdi. I kin mɔs afɛkt di at, di blɔd vesel dɛn, di yay, di bon dɛn, ɛn di jɔyn dɛn .
Pan ɔl we dis na sik we dɛn bɔn wit, sɔntɛnde, di sayn dɛn kin sho ɛn dɛn kin no di sik we dɛn yɔŋ.
Wetin kin bi di sayn dɛm fɔ dis?
De impɔtant tin fɔ ɔndastand ya na dat nɔr to ɔlman wae gɛt Marfan Syndrome go gɛt di sem sɛt ɔf simptom dɛm. I kin difrɛn bad bad wan frɔm wan pɔsin to ɔda pɔsin. Sɔm pipul dɛn kin gɛt bɔku sayn dɛn, ɛn ɔda wan dɛn kin gɛt sɔm pan dɛn. na dat mek dכkta dεn kכl dis kכndishכn wit "variable expression."
Bɔt sɔm kɔmɔn kwaliti dɛn de we wi kin si. Lɛ wi sheb dɛn to tu pat.
| Di tu men tin dɛm wae de sho se yu gɛt Marfan Syndrome | |
|---|---|
| Aorta rut anɛrizm | di aorta na di big blɔd vesel we de kɛr blɔd kɔmɔt na wi at to di ɔda pat na wi bɔdi. di fכs pat pan am we de kכnεkt to di at kin wik εn swεla εn wayd lεk balכn. Dis na di sayn wae de sho se dis sik kin de pan denja pas ɔl. |
| Ectopia lentis (we di lens na di yay de displeys) . | di lens insay wi yay, bikoz di wik we di dilik fayb dεm we de ol am na in ples, kin muv sכmtεm frכm usay i fכ de. Dis kin mek i nɔ ebul fɔ si fayn. |
Apat frɔm dɛn tu men tin ya, dɛn kin si ɔda tin dɛn we gɛt fɔ du wit aw di bɔdi tan.
| Kɔmɔn kwaliti dɛn we gɛt fɔ du wit aw bɔdi de luk | |
|---|---|
| Di kayn bɔdi we yu gɛt | Fɔ gɛt bɔdi we lɔng ɛn we tan lɛk tin we nɔ kɔmɔn. |
| An, fut, finga dɛn | Di an, leg, an, ɛn finga dɛn we nɔrmal we yu kɔmpia am to ɔda pat dɛn na di bɔdi. |
| Fes | Lɔng, smɔl fes shep. |
| Spine | Skɔliosis we de mek pɔsin gɛt sik. |
| Chɛst | Chɛst bon we dɔn sink insay (Pectus excavatum) ɔ we de kɔmɔt na do (Pectus carinatum). |
| Jɔnkshɔn | di joyn dεm kin rili fleksibul εn i kin izi fכ dislocation. |
| Fut | Flat fut dɛn. |
| Tit | Tit we krawd bikɔs di ples nɔ de na di mɔt. |
| Kanda | Stretch mak dεm de apin na di skin ivin if yu nכ chenj na di bכdi wet. |
Wetin na de kɔmplikɛshɔn wae kin kam bikɔs ɔf di sik wae de mɛk pɔrsin gɛt dis sik?
If dɛn nɔr de manej dis sik fayn fayn wan, siriɔs prɔblɛm kin kam as tɛm de go.
Di tin dɛn we kin apin to di at ɛn di blɔd vesel dɛn
Dis na di kɔmplikɛshɔn dɛm wae nid fɔ pe atɛnshɔn mɔr pan Marfan Syndrome.
- Aortic dissection: Dis na di sik we de mek pɔsin denja pas ɔl. di wכl fכ di aorta de mek wit sεvεra layεr dεm. If di layt we de insay dis wɔl rɔtin wantɛm wantɛm, i kin mek blɔd lik bitwin di layt dɛn. Dis na sik we kin mek pɔsin in layf de pan denja ɛn i kin nid fɔ du ɔpreshɔn kwik kwik wan.
- di hat valv sik: Di valv dεm na di at kin wik εn i nכ kin kכloz fayn, we kin mek di bכdi lik bak.
- At we big: Di at mɔsul kin big ɛn wik bikɔs di at kin gɛt fɔ wok tranga wan as tɛm de go.
- Di at bit we nɔ de bit (Arrhythmia): Di at kin bit we nɔ de bit ɔltɛm.
- Bren aneurism: Wan wik say na di blɔd vesel we de insay ɔ rawnd di bren kin bɔl lɛk balyɔn.
Di tin dɛn we kin apin to di yay
- Katarakt we pɔsin kin gɛt
- Glɔkoma we dɛn kɔl Glaukoma
- Di retina we de kɔmɔt na di bɔdi
Di tin dɛn we kin apin to di lɔng dɛn
we di kכnektiv tisu wik kin afekt di lכng dεm bak.
- Asma we gɛt asma
- Infεkshכn dεm na di lכng (Bronkaytis, Nyumonia) .
- Lɔng we dɔn kol (Pneumothorax) .
I rili impɔtant fɔ de wach ɔltɛm ɛn du mɛdikal ɛgzamin fɔ kɔmplikeshɔn dɛn we gɛt fɔ du wit di at ɛn aorta na Marfan Syndrome.
Wetin mek Marfan Syndrome kin apin? Wetin na di kɔz?
Di men rizin fɔ dis na we di jɛnɛtik chenj. Fibrillin-1, we de insay di kכnektiv tisu dεm na wi bכdi.wan jin de we de kכntro di prodyushכn fכ wan protin we dεn kכl ``fibrilin.'' dεn kכl am di ``FBN1'' jin. Pipul dεm we gεt Marfan Syndrome gεt sכm chenj, כ difεkt (variant), insay dis ``FBN1'' jin. dis kin mek di bכdi de mek wan wik fibrilin protin.
- כltεm (bכt 75%) di jin we nכ de wok fayn kin kכmכt frכm wan mama εn papa. If ɛni wan pan dɛn mama ɛn papa gɛt di sik, ɛni wan pan dɛn pikin dɛn gɛt 50% chans fɔ gɛt di sik.
- insay di rεst 25% pan di kes dεm, di pikin kin divεlכp dis jεnεtik mכtεshכn ivin if di mama εn papa nכ gεt di kכndyushכn. Dɛn nɔ dɔn fɛn di rayt rizin yet.
Aw dɔktɔ dɛn kin fɛn dis?
Bikɔs di sik we dɛn kɔl Marfan Syndrome kin afɛkt bɔku pat dɛn na di bɔdi, i kin tek wan tim we gɛt dɔktɔ dɛn we kɔmɔt na difrɛn spɛshal say dɛn fɔ mek dɛn no di sik kɔrɛkt wan . Bɔku tɛm, yu dɔktɔ go fala dɛn tin ya:
- Aks bɔt yu mɛdikal histri ɛn di sayn dɛm: Aks bɔt ɛni diskɔmfɔt we yu de gɛt, prɔblɛm wit yu yay, ɔr yu jɔyn pen.
- wan komplit fyzikal egzamin: de mכsu ayt, wet, limb lεngth, if bak de pen, εn di shep fכ di chεst.
- Fɔ aks bɔt famili mɛdikal histri: Fɔ aks bɔt tin dɛm lɛk if ɛnibɔdi na di famili dɔn gɛt dɛn kayn sik ya, ɔr if ɛnibɔdi dɔn day bikɔs in at dɔn stɔp wantɛm wantɛm.
- Riferal fɔ spɛshal tɛst dɛn:
- Echocardiogram (Echo test): Dis na di tɛst we impɔtant pas ɔl. i kin chεk di kכndishכn fכ di at εn aorta, εn di wok we di valv dεm de du.
- Ilɛktrokardiogram (ECG): Chɛk fɔ si if di at nɔ de rit ɔltɛm.
- CT ɔ MRI skan: Si di wan ol lɔng we di aorta ɛn ɔda blɔd vesel dɛn gɛt ditayli.
- Wan ay ɛgzam: No usay di lens na di yay de ɛn ɔda prɔblɛm dɛn.
- jεnεtik tεst: dεn kin tek bכdi sεmpl fכ no if difεkt de na di `FBN1` jin.
Wetin na di tritmɛnt dɛm fɔ dis?
Fɔs, no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl Marfan Syndrome. Bɔt nɔ wɔri. I pɔsibul fɔ mɛn am fayn fayn wan, fɔ mek yu nɔ gɛt prɔblɛm dɛn, ɛn liv nɔmal, wɛlbɔdi layf. Di men gol fɔ tritmɛnt na fɔ kɔntrol di sayn dɛm ɛn fɔ mek dɛn nɔ gɛt prɔblɛm wit dɛn denja.
Di mɛrɛsin dɛn we dɛn kin yuz
- Beta-blockers: Dɛn mɛrɛsin ya kin mek di at rit smɔl, i kin mek di blɔd prɛshɔn go dɔŋ, ɛn i kin mek di prɛshɔn we de na di aorta nɔ bɔku. dis kin slo di rεt we di aorta de dilayt.
- Angiotensin II Receptor Blockers (ARBs): Dɛn drɔgs ya kin ɛp bak fɔ protɛkt di aorta.
Monitoring we dɛn kin du ɔltɛm
Dis na di impɔtant pat pan di manejmɛnt. Yu fɔ go to di dɔktɔ ɔltɛm ɛn du tɛst.
- di at ɛn blɔd vesel dɛn: Dɛn kin du ɛko tɛst wan tɛm insay di ia fɔ chɛk fɔ si if di aorta in saiz chenj.
- Ay: Yu fɔ mek dɔktɔ we de mɛn yu yay chɛk yu yay ɔltɛm.
- Skel sistɛm: Yu nid fɔ pe atɛnshɔn bak to tin dɛn lɛk yu spayna.
Advays bɔt aw fɔ du tin wit yu bɔdi
Ɛksesaiz fayn fɔ pɔsin we gɛt Marfan Syndrome, bɔt nɔto ɔl ɛksesaiz kin fayn. Sɔm tranga ɛksesaiz kin mek di aorta prɛshɔn. So, i impɔtant fɔ tɔk to yu dɔktɔ fɔ no us ɛksesaiz dɛn we fayn fɔ yu.
| Aprɔpriet aktiviti dɛn (bɔku tɛm) . | Tin dɛn we yu fɔ avɔyd/nɔ fɔ du |
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Ɔpreshɔn fɔ di At
If di aorta wayd bad bad wan, dɔktɔ dɛn kin se dɛn fɔ du ɔpreshɔn fɔ pul di wik pat ɛn put graft bifo i brok. If di at valv dɛn dɔn pwɛl, dɛn kin du ɔpreshɔn fɔ mek dɛn fayn ɔ fɔ chenj dɛn.
Laif ɛn mental wɛlbɔdi wit Marfan Syndrome
Fɔ liv wit Marfan Syndrome kin tranga sɔm tɛm. We yu de go to dɔktɔ ɔltɛm, tek mɛrɛsin, ɛn chenj di we aw yu de liv yu layf, dat kin mek yu taya.
Ɛn bak, .
- We yu tink bɔt aw yu bɔdi tan, dat kin mek yu wɔri.
- Bɔdi kin at ɛn taya ɔltɛm.
- We yu nɔ ebul fɔ ple spɔt, rɔn rawnd, ɛn ple lɛk ɔda pipul dɛn, yu kin fil lɛk se yu nɔ de wit ɔda pipul dɛn.
- Tin dɛn lɛk tumara bambay ɛn fɔ bigin famili kin mek wi fred.
Fɔ dɛn rizin ya, de risk fɔ gɛt prɔblɛm wit yu maynd lɛk fɔ wɔri ɛn pwɛl hat .
Mɛmba se yu maynd wɛlbɔdi impɔtant jɔs lɛk aw yu bɔdi impɔtant. If yu de fil strɛs ɔ wɔri, tɔk to pɔsin we yu biliv. If nid de, nɔ ɛva shem fɔ aks fɔ ɛp frɔm dɔktɔ we de mɛn pipul dɛn we gɛt sik ɔ we de gi advays.
Tɛnki fɔ di no bɔt di no bɔt Marfan Syndrome ɛn nyu tritmɛnt dɛm, di layf we pɔsin we gɛt dis sik kin liv naw, dɔn rili fiba di wan we di avɛrej pɔsin kin liv. Di tin we impɔtant pas ɔl na fɔ no di sik kwik kwik wan ɛn mɛn am fayn fayn wan.
Mɛsej we dɛn kin kɛr go na os
- Marfan Syndrome na wan jεnεtik kכndyushכn we de wik di kכnektiv tisu dεm na wi bכdi.
- Di men tin dɛn we de sho se i lɔng pasmak, in bɔdi tan lɛk tin, in an ɛn fut dɛn lɔng, in jɔyn dɛn we nɔ gɛt natin, ɛn i nɔ de si fayn.
- Di kɔmplikeshɔn we denja pas ɔl fɔ dis sik na di risk fɔ mek di aorta big ɛn brok.
- Pan ɔl we no kɔmplit mɛrɛsin nɔ de fɔ dis, dɛn kin ebul fɔ manej am fayn fayn wan ɛn dɛn kin liv wɛlbɔdi layf wit mɛrɛsin, fɔ de wach am ɔltɛm na di mɛrɛsin (espɛshali di ɛko tɛst), ɛn chenj di we aw pɔsin de liv in layf.
- If yu tink se yu ɔ sɔmbɔdi na yu famili gɛt dɛn sik ya, go to yu dɔktɔ wantɛm wantɛm fɔ tɔk bɔt am. Fɔ no am kwik kwik wan rili impɔtant.
- Tek kia ɔf yu maynd wɛl bɔdi ɛn bak yu bɔdi wɛl bɔdi. Gɛt ɛp if yu nid am.
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