Yu tink se sɔm pat dɛn na di bɔdi kin big pasmak? Lɛ wi tɔk bɔt di sik we dɛn kɔl Proteus Syndrome

Yu dɔn ɛva si ɔ yɛri bɔt pɔsin we in bɔdi pat dɛn – lɛ wi se, in an ɔ in leg – de gro bɔku bɔku wan ɛn big pas di ɔda wan dɛn? Ɔ di skin na sɔm say dɛn kin tik ɛn i kin tan lɛk strenj tin dɛn? Dis na tin we nɔ kin apin so ɔltɛm. Tide wi go tɔk bɔt wan kɔndishɔn we strenj smɔl, bɔt i rili impɔtant fɔ mek ɔlman no bɔt am. Dɛn kɔl am Proteus Syndrome.

Wetin na di sik we dɛn kɔl Proteus Syndrome?

Fɔ tɔk am simpul wan, Proteus Syndrome na wan sik we nɔ kin apin so ɔltɛm . I kin mek yu bɔdi in bon dɛn, yu skin, di ɔgan dɛn we de insay yu bɔdi, ɔ di tisu dɛn gro pasmak . Impɔtant tin na dat, dis growth kin bi asymmetrical . Dis min se di rayt ɛn lɛft say na di bɔdi kin afɛkt difrɛn we. Wan say kin big, ɛn di ɔda say kin bi nɔmal.

Dɛn kɔl dis "Proteus", wan ol Grik gɔd bin de we dɛn kɔl "Proteus", we kin chenj to ɛni shep. Dis sik kin chenj di shep fɔ di bɔdi bak, so i gɛt in nem.

Bɔku tɛm, pikin we dɛn jɔs bɔn nɔ kin sho ɛni sayn fɔ dis sik. dis abnכmal divεlכpmεnt de bigin bitwin 6 εn 18 mכnt . Dɔn i kin go bifo kwik kwik wan insay di fɔs 10 ia na layf ɛn i kin tranga mɔr as dɛn de ol. Apat frɔm di chenj we dɛn kin chenj na dɛn bɔdi, sɔm pipul dɛn kin gɛt prɔblɛm wit dɛn nyurolɔjik. Pipul wae gɛt Proteus syndrome kin gɛt bɔrku risk bak fɔ gɛt blɔd klot ɛn gɛt tumor wae nɔr gɛt kansa .

Udat go ebul fɔ gɛt dis? Aw i kɔmɔn?

Proteus syndrome kin afɛkt ɛnibɔdi, bɔt sɔm stɔdi dɔn sho se i kin bɔku smɔl pan man dɛn pas uman dɛn.

Dis na tin we nɔ kin apin so ɔltɛm . I nɔ rich wan pan ɛvri milyɔn pipul dɛn ɔlsay na di wɔl. Bikɔs i nɔ kin bɔku, ɛn bikɔs ɔda tin dɛn de we kin sho bak se i nɔ de gro, i nɔ kin izi fɔ no am kɔrɛkt wan. So, i nɔ kin izi fɔ tɔk ɔmɔs pipul dɛn rili gɛt am. Dɔktɔ dɛn biliv se sɔm pipul dɛn nɔ kin no di sik, ɛn ɔda wan dɛn nɔ kin no di rayt we. Bɔt dɛn biliv se nɔto wan ɔndrɛd pipul dɛn ɔlsay na di wɔl gɛt dis sik.

Wetin na di sayn dɛm we de sho se yu gɛt dis sik? Aw yu no am?

di fכs sayn dεm fכ Proteus syndrome kin apin bitwin 6 εn 18 mכnt . dis na we di asimetrik growth patεn we wi bin dכn tכk bכt de bigin. Di we aw dis kin gro ɛn aw i kin tranga kin difrɛn frɔm wan pɔsin to ɔda pɔsin. I kin afɛkt ɛni pat na di bɔdi, lɛk di bon dɛn, di skin, di ɔgan dɛn, ɛn di tisu dɛn. Dis sik kin go bifo kwik kwik wan insay di fɔs tɛn ia we i de liv.

### Di chenj dɛn we de apin na di bon dɛn:

Di bon dɛn na yu an, yu leg, yu skel, ɛn yu spayna kin gro ɔltɛm.

• di an εn di leg dεm kin gro to difrεn lεngth dεm . Imajin se wan an lɔng pas di ɔda wan, ɔ di lɔng we yu leg dɛn lɔng difrɛn.
• siriכ s kכva fכ di spayna (scoliosis) kin apin.
• As tɛm de go, dis abnɔmal growth kin mek di joyn dɛn nɔ ebul fɔ wok fayn.

### Skin chenj:

Proteus syndrome kin mek di skin gro fayn fayn wan.

• Na sɔm say dɛn, di skin kin tik ɛn go ɔp, ɛn i kin mek wan bɔmp we gɛt wrinkled we tan lɛk di say we di bren de. dεn kכl dis sεribrifכm kכnektiv tisu nεvכs .
• Dɛn kin si dɛn tin ya na di fut dɛn , bɔt sɔntɛnde dɛn kin de na di an dɛn.

Dis kayn skin lump so spɛshal dat dɛn nɔ kin si am pan ɛni ɔda mɛrɛsin.

### Blɔd vesel ɛn adipos tisu:

• Sɔntɛm yu blɔd vesel dɛn nɔ de gro fayn, dat na di kapilari ɛn vein dɛn.
• di adipose tisu kin divεlכp pasmak, we kin mek di fεt we pasmak kin gɛda na di say dεm lεk di bεlε, di an dεm, εn di leg dεm.
• Bɔku tɛm, di tɔŋ dɛn we nɔ gɛt kansa, we gɛt fat (lipomas) kin kam.

### Prɔblɛm dɛn na di nervɔs sistɛm:

Sɔm pipul dɛm wae gɛt Proteus syndrome kin gɛt prɔblɛm bak wit dɛn nervous system.

• Disabiliti dɛn we gɛt fɔ du wit intɛlektual.
• Epileptic kondishɔn `(Sɛiz)`.
• Yu nɔ de si fayn igen.

### Chenj dɛn na di we aw yu fes de luk:

Proteus syndrome kin mek sɔm difrɛn tin dɛn na yu fes.

• Wan fes we lɔng lɔng.
• I tan lɛk se di kɔna dɛn we de na do na di yay dɛn de drɔp.
• Wan flat nos brij ɛn wayd nos.
• I tan lɛk se yu gɛt yu mɔt opin.

Wetin na di denja kɔmplikeshɔn dɛm wae kin apun bikɔs ɔf dis?

Di prɔblɛm we kin mek pɔsin in layf de pan denja pas ɔl we di Proteus syndrome kin gɛt na dip vein thrombosis (DVT), we na wan blɔd we kin klɔt na di dip vein dɛn . Bɔku tɛm, DVT kin afɛkt di dip vein dɛn na di leg ɔ an, ɛn dis kin mek pɔsin fil pen ɛn swel.

if dis `DVT` travul tru di bכdi to di lכng dεm, i kin mek wan denja kכndyushכn we dεn kכl `Pulmonary Embolism`. Pulmonary embolism na di kɔmɔn tin we kin mek pipul dɛn we gɛt Proteus syndrome day.

Aw di Proteus Syndrome kin kam? Yu tink se na jɛnɛtiks?

di rizin fכ dis na chenj (mכtεshכn) na di jin we dεn kכl `AKT1`.. di `AKT1` jin de εp fכ kכntrכl di sεl dεm we de gro εn divεlכpmεnt. We dɛn chenj dis jin, wan sɛl nɔ kin ebul fɔ kɔntrol di we aw i de gro. Dis kin mek di sɛl gro ɛn sheb di we aw i nɔmal. Dis na wetin de mek di growth pasmak we dɛn kin si pan Proteus syndrome.

Di impɔtant tin na dat, Proteus syndrome nɔto sik we pɔsin kin gɛt frɔm in mama ɛn papa. dis jin mכtεshכn de apin afta fεtilayz di εmbrayo, we dεn kכl somatik mכtεshכn . dis mכtεshכn de apin bay chans insay wan sεl na di εmbrayo we de divεlכp ali we di bεlε de. as dis mכtayshכn sεl de gro εn divayd, sכm sεl dεm gεt dis mכtεshכn εn sכm nכ gεt. Dɛn kɔl dis wan mosayk jin ɔltɛrayshɔn . I tan lɛk pikchɔ we dɛn mek wit difrɛn difrɛn kɔlɔ dɛn. biכs di `AKT1` jin mכtεshכn de כnli afekt sכm sεl dεm na di bכdi, di sik de afekt כnli pat pan di bכdi bak.

Aw dɔktɔ dɛn kin no bɔt dis?

Yu dɔktɔ go du yu bɔdi ɛgzam fɔ no if yu gɛt Proteus syndrome. Dɛn go yuz spɛshal chɛklist bak fɔ di sayn dɛm wae gɛt fɔ du wit de sik. Fɔ mek dɔktɔ tink bɔt dis diagnosis, tri kɔmɔn sayn dɛn fɔ de. Dɛn na:

• Mosayk distribushכn : Dis min se di growth dεm de spre oba wan big εria na di bכdi. Sɔm pat dɛn na di bɔdi gɛt tin dɛn we de gro, ɛn ɔda wan dɛn nɔ gɛt.
• Sporadic occurrence : Dis min se nɔrbɔdi nɔr de na yu famili gɛt dɛn kayn sik ya.
• di kכs we de go bifo : Dis min se as tεm de go, di we aw di bכdi pat dεm we dεn afekt de apin dεn chenj bכku bכku wan bikoz fכ dis fכ gro pasmak.

Apat frɔm dis, yu dɔktɔ go luk fɔ ɔda patikyula sayn dɛn. Fɔ mek dɛn no se yu gɛt Proteus syndrome, yu fɔ gɛt sɔm patikyula sayn dɛn frɔm ɛni wan pan di kategori dɛm we de na di dɔktɔ in chɛklist.

### Us kayn tɛst dɛn kin du?

di jin mכtεshכn we de mek di Proteus syndrome nכ de insay εvri sεl na di bכdi. So, fɔ tɛst di jɛnɛtiks kin at smɔl. dis na biכs di mכtεshכn kin nכ de na blכd sεmpl, כ i kin כnli de insay rili sכm.

Bɔt dɔktɔ dɛn kin no dis jin we dɔn chenj bay we dɛn tek smɔl smɔl pan yu tisu we dɔn afɛkt (bayopsi) ɛn tɛst am (DNA tɛst) . Dɛn kin yuz di DNA we kɔmɔt na da sampul de fɔ no di jin we dɔn chenj.

Yu tink se tritmɛnt de fɔ dis? Yu tink se dɛn kin mɛn am?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ mɛn di sik we dɛn kɔl Proteus syndrome . Tritmɛnt de fɔ kɔntrol yu patikyula sayn dɛm. Yu go nid fɔ wok wit wan tim we gɛt spɛshal pipul dɛn fɔ ɛp yu wit yu wan wan mɛrɛsin nid dɛn.

• Ɔtpidik ɔspitul dɔktɔI de trit prɔblɛm wit yu bon dɛn. Difrɛn tritmɛnt dɛn de fɔ ridyus di bon dɛn we de gro pasmak na di an, fut, ɛn finga dɛn. Dɛn kin kɔrɛkt prɔblɛm dɛn bak wit di spayna ɛn jɔyn dɛn. Bifo ɛni ɔpreshɔn, wan dɔktɔ we de mɛn yu blɔd go chɛk yu fɔ no if yu blɔd go klɔt.
• Yu kin nid fɔ go to dɔktɔ we de mɛn yu skin fɔ si if yu gɛt bɔku bɔku wata ɛn yu skin chenj. Sɔm prɔblɛm dɛn kin nid fɔ gɛt tritmɛnt wantɛm wantɛm ɛn ɔltɛm. Fɔ ɔda prɔblɛm, yu dɔktɔ kin tek "wet ɛn si" we. Dat min se, dɛn go wach yu kɔndishɔn bifo dɛn tɛl yu ɛni patikyula tritmɛnt.

Ɔda wɛlbɔdi biznɛs pipul dɛm wae kin involv fɔ kia fɔ yu na:

• Wan spɛshal pɔsin we sabi bɔt rihabiliteshɔn mɛrɛsin (Physiatrist) .
• Dɔktɔ we spɛshal pan sik dɛn we de mek pɔsin nɔ ebul fɔ blo fayn (Pulmonologist) .
• Fizik tɛrapist
• Ɔkupeshɔn tɛrapist
• Pɔsin we de mek spɛshal fut ɛn fut sɔpɔt (Pedorthist) .

Na jɔs naw sayɛnsman dɛn dɔn fɛn di jin we de mek pɔsin gɛt di sik we dɛn kɔl Proteus syndrome, we kin mek dɛn gɛt bɔku tin dɛn fɔ mek nyu mɛrɛsin ɛn ɔda tritmɛnt dɛn.

Yu tink se we de fɔ mek dis nɔ apin?

Nɔ, dɛn nɔ go ebul fɔ protɛkt di sik we dɛn kɔl Proteus syndrome. Dis na bikɔs na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks. di jin mכtεshכn we de kכz am na random ivent we di pikin de divεlכp. I nɔ kin kam bikɔs ɔf ɛnitin we bin apin bifo ɔ we uman gɛt bɛlɛ. So nɔ wɔri bɔt am.

Aw di layf we pɔsin kin liv kin bi?

Di layf we pɔsin we gɛt Proteus syndrome kin liv kin dipen mɔ pan di pat dɛm na di bɔdi we di sik afɛkt ɛn aw di sik kin tranga. Di prɔblɛm dɛn we kin apin kin mek pɔsin in layf de pan denja , ɛn dɛn kin mek pɔsin day pas di sik insɛf. Dɛn prɔblɛm ya kin bi dip vein trombosis (DVT), pulmonary embolism, ɛn kansa. Pulmonary embolism na di kɔmɔn tin we kin mek pipul dɛn we gɛt Proteus syndrome day.

Ɔl togɛda, lɛk 25% pan di pipul dɛm wae gɛt Proteus syndrome kin day bifo dɛn rich 22. Bɔt, di wan dɛm wae gɛt smɔl smɔl sik kin jɔs gɛt gud layf wit di tritmɛnt we go wok fayn.

Aw fɔ liv wit di sik we dɛn kɔl Proteus Syndrome?

Fɔ liv wit di chenj dɛm wae de kam pan yu bɔdi wae de kam wit Proteus syndrome kin rili pwɛl yu at ɛn i kin tranga. I impɔtant fɔ mek yu ɛn yu famili lan bɔku tin bɔt dis sik.Fɔ tɔk to ɔda pipul dɛm wae de sɔfa wit dis sik ɛn lisin to dɛn ɛkspiriɛns kin ɛp yu fɔ fil lɛk se yu nɔr de yu wan ɛn pipul dɛm de wae ɔndastand yu. Aks yu dɔktɔ bɔt tin dɛm wae go ɛp yu fɔ kɔntrol ɛn bia wit yu sik.

Fɔ no se yu ɔ yu pikin gɛt wan sik we nɔ kin apin so ɔltɛm na in bɔdi, dat kin mek yu fred ɛn i kin mek yu fil bad. E kin tranga pasmak if de sik kin mek yu bɔdi chenj bad bad wan. So, i impɔtant fɔ fɛn dɔktɔ we go ebul fɔ no di kɔrɛkt we aw pɔsin gɛt Proteus syndrome ɛn gɛda wan tim we gɛt spɛshal pipul dɛn. If dɛn gi dɛn di rayt tritmɛnt, bɔku pipul dɛn kin gɛt gud layf. I impɔtant bak fɔ fɛn wan grup fɔ pipul dɛm wae kin sɔpɔt yu as yu de gɛt dis tranga diagnosis.

Mɛmba di tin we impɔtant pas ɔl (Take-Home Message) .

• Proteus syndrome na wan jεnεtik kכndyushכn we rili rεs we de sho se sכm pat dεm na di bכdi de gro pasmak, we de gro pasmak.
• Dis nɔto tin we pɔsin kin gɛt frɔm in mama ɛn papa . i de kכz fכ wan random jεnεtik mכtεshכn we de apin di tεm we di εmbrayo de stej.
• Di sayn dɛm kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin.
• Pan ɔl we dɛn nɔ gɛt kɔmplit mɛrɛsin , difrɛn tritmɛnt dɛn de fɔ mɛn di sik dɛn.
• I rili impɔtant fɔ aks fɔ sɔpɔt frɔm wan tim we gɛt spɛshal dɔktɔ dɛn ɛn fɔ no bɔt di sik gud gud wan.
• I impɔtant fɔ no bɔt di prɔblɛm dɛn lɛk dip vein trombosis (DVT) ɛn pulmonary embolism (Pulmonary Embolism) fɔ protɛkt layf.
• If yu ɔr pɔrsin wae yu lɛk de sɔfa wit dis sik, nɔr fɔgɛt di trɛnk wae de kam frɔm saykilɔjik sɔpɔt ɛn sɔpɔt grup dɛm .

A op se dis infɔmeshɔn go ɛp yu. If yu gɛt ɛnitin we de mɔna yu, duya nɔ fɔgɛt fɔ go to dɔktɔ.

` Proteus Syndrome, Jεnεtik Disizin, Abnכmal Divεlכpmεnt, AKT1 Jin, DVT, Pulmonary Embolism, Skin Disiz, Bon Divεlכpmεnt, Rare Disizin