Wetin na Wolfram Sindrom? Lɛ wi tɔk bɔt am!

Yu dɔn ɛva yɛri bɔt Wolfram Syndrome? Sɔntɛm di nem na nyu tin to yu. Na wan sik wae nɔr kin bɔrku pan jɛnɛtiks wae kin afɛkt smɔl pipul dɛm, bɔt e kin rili siriɔs. I kin pwɛl yu bren ɛn ɔda tisu dɛn na yu bɔdi. E fayn fɔ no bɔt dis sik, mɔr lɛk wae de sik kin bigin fɔ sho wae dɛn smɔl.

Wetin rili na Wolfram Syndrome?

Fɔ tɔk am simpul wan, Wolfram syndrome na wan jenɛtik kɔndishɔn we kin pas frɔm wan jɛnɛreshɔn to ɔda jɛnɛreshɔn. Na nyurodijɛnɛraytiv disɔda, we min se i kin pwɛl di bren ɛn di nervɔs sistɛm as tɛm de go. Dis kin mek di sik de kam smɔl smɔl, bɔku tɛm i kin bigin we i smɔl ɛn i kin kɔntinyu te i big. Bɔku tɛm, dayabitis ɛn prɔblɛm wit yu yay na di fɔs sayn dɛm fɔ dis sik bifo yu ol 15. As tɛm de go, di bren nɔ kin wok fayn ɛn sɔntɛnde i kin mek yu layf de pan denja.

Sɔm kayn Wolfram Syndrome de?

Yɛs, dɔktɔ dɛn dɔn fɛn tu kayn jin dɛn we gɛt fɔ du wit dis sik. Yu no se jin na di smɔl smɔl tin dɛn we de na di DNA we gɛt ɔl di tin dɛn we de insay wi bɔdi. Pipul dεm wae gεt Wolfram syndrome gεt sכm chenj dεm na dεn jin dεm ya, we wi kin kכl mכtεshכn. So, dεn kin kכl am akɔdin to di jin we dεn afekt:

• Wolfram sεndrכm tayp 1: Dis kin kכz fכ wan mכtεshכn na di jin we dεn kכl WFS1 jin''.
• Wolfram sεndrכm tayp 2: Dis kin kכz fכ wan mכtεshכn na di jin we dεn kכl (WFS2 (CISD2) jin).

Smɔl difrɛns kin de pan de sayn dɛm fɔ dɛn tu kayn sik ya.

Aw dis sik kin kɔmɔt frɔm wisɛf?

Bɔku tɛm, fɔ mek pikin gɛt Wolfram sindrom, in mama ɛn papa ɔl tu fɔ bi pipul dɛn we de kɛr di jin muteshɔn we ripɔtabl fɔ di sik. Dis min se di pikin fɔ gɛt di jin we dɔn chenj frɔm in mama ɛn papa ɔl tu. Bɔt, na smɔl tɛm nɔmɔ, dɛn kin gɛt di sik we dɛn kɔl Wolfram syndrome tayp 1 frɔm jɔs wan mama ɔ papa.

Aw kɔmɔn tin na Wolfram Syndrome?

Bikɔs na dis kayn sik we nɔ kin apin so ɔltɛm, i nɔ kin izi fɔ tɔk klia wan ɔmɔs pipul dɛn gɛt am. Wan stɔdi sho se na Yunaytɛd Kiŋdɔm, dis sik kin afɛkt lɛk wan pan ɛvri 770,000 pipul dɛn . Stɔdi dɛn we dɛn dɔn du na ɔda kɔntri dɛn dɔn sho se dis sik kin bɔku na sɔm rijyɔn dɛn, mɔ na say dɛn usay dɛn fambul dɛn we de nia dɛn kin mared ɛn bɔn pikin dɛn.

Wolfram sindrom tayp 2 kin ivin rare. Na wan wan famili dɛn nɔmɔ dɛn dɔn ripɔt am ɔlsay na di wɔl.

Wetin na di men sayn dɛm fɔ Wolfram syndrome tayp 1?

Nɔr to ɔlman wae gɛt Wolfram syndrome tayp 1 go gɛt di sem kayn sik, ɛn dɛn kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Bɔt bɔku tɛm, dɛn sik ya kin apin insay wan patikyula ɔda, we dɛn smɔl ɛn we dɛn yɔŋ. Na dis na di tipik ɔda, ɛn di tipik ej we di sik dɛn kin sho:

• Dayabitis - Bɔrku tɛm we yu ol 6 ia: Dayabitis na prɔblɛm wit di bɔdi in ebul fɔ tek shuga, ɔ glukɔs, frɔm di it we wi de it. Nɔmal wan, wi pankrias kin mek wan ɔmon we dɛn kɔl insulin. Dis insulin de ɛp wi sɛl dɛn fɔ tek di shuga we de na di blɔd. So, if dɛn nɔ mek insulin fayn, ɔ if di sɛl dɛn nɔ de ansa di insulin we dɛn de mek fayn fayn wan, di shuga we de na di blɔd kin rili bɔku. Dayabitis we gɛt fɔ du wit Wolfram sindrom tan lɛk Tayp 1 dayabitis, bɔt i nɔto sik we pɔsin kin gɛt we i de fɛt insɛf. Di sayn dɛm fɔ dayabitis na fɔ pis ɔltɛm, fɔ tɔsti pasmak, fɔ si fayn fayn wan, ɛn fɔ lɔs yu wet we yu nɔr ɛksplen .

• di optik atrofi - i kin apin arawnd di ej we yu ol 11 ia: Dis na we di optik nεv de dכn sכmtεm, we de kכri mεsej frכm di yay to di bren. Dɛn kin kɔl dis bak Ɔptik Atrofi. Di sayn dɛm kin bi we yu nɔ de si fayn, yu nɔ de si klia wan, yu nɔ de si di kɔlɔ, ɔ yu nɔ de si di say we yu de si . Fɔ ɛgzampul, di lɛta dɛn we de na di nyuspepa nɔ kin klia igen lɛk aw dɛn bin de, ɔ di pikin nɔ kin ebul fɔ si di blakbɔd igen na skul.

• Sensorineural hearing loss - I kin apin we yu ol 13 ia: Dis na we yu de yɛri we yu nɔ de yɛri we di sɛnsitiv pat dɛn na di insay yes dɔn pwɛl. dis dεn kכl dis sensorineural hearing loss. Dis we aw pɔsin kin yɛri kin wɔs we pɔsin de ol, ɛn sɔntɛnde , i kin ivin mek pɔsin dɛf ɔl. Yu geht foh ton di TV op foh yehri, o yu geht foh aks "Wetin yu jis se?" we pɔsin de tɔk.

• Dayabitis Insipidus - Bɔku tɛm we yu ol 14 ia: Nɔto dis na di dayabitis (Diabetes Mellitus) we wi bin dɔn tɔk bɔt? Dɛn kɔl dis (Diabetes Insipidus). wetin kin apin pan dis na dat wan כmon (antidiuretic hormone) we de kכntro di כmכnt fכ wata na wi urine nכ de prodyuz fayn, כ di bכdi nכ de rεspכnd to am fayn. Dis kin mek bɔku bɔku urine kɔmɔt, we tan lɛk bɔku wata. Bikɔs ɔf dis we yu de pis pasmak, yu nɔ gɛt wata na yu bɔdi, yu nɔ de balans di ilɛktrɔlayt, yu wik, yu mɔt de dray, ɛn yu gɛt kɔnstipɛshɔn.

Wolfram sindrom gɛt wan ol nem, (DIDMOAD). I kin mek bay we dɛn jɔyn di fɔs lɛta dɛn fɔ dɛn men sayn ya:

* Dayabitis Insipidus (DI) - Dayarɛa

* Dayabitis Mɛlitɔs (DM) - Dayabitis

* Optik Atrofi (OA) - I nɔ de si fayn

* Dɛf (D) - I nɔ de yɛri fayn/def

Wetin na ɔda sayn dɛm fɔ Wolfram syndrome tayp 1?

Apat frɔm dɛn 4 men sayn dɛn de, ɔda sayn dɛn kin apin. Bɔt dɛn tin ya nɔ kin apin to ɔlman.

• Ɔmon dizayd: Hypopituitarism, hypogonadism, growth retardation, ɛn delay fɔ bigin fɔ gɛt mɔnt pan gyal pikin dɛn.
• Di sayn dɛm wae gɛt fɔ du wit di nervɔs sistɛm: nɔr kin stedi fɔ waka ɛn muv (ataxia), nɔr kin mɛmba ɛn tink (dimentia), ed kin at, yu kin stɔp fɔ blo fɔ shɔt tɛm we yu de slip (central sleep apnea), yu kin gɛt sik (epilepsy), ɛn yu nɔ kin teist ɛn smɛl.
• Prɔblɛm dɛn na yu maynd: pwɛl hat, wɔri, panik atak, yu maynd kin chenj, ɛn sɔntɛnde yu kin du bad bad tin.
• Prɔblɛm dɛn we de na di urinary system: Yu kin gɛt infekshɔn na yu urinary tract bɔku tɛm, yu nɔ kin ebul fɔ urinary, ɛn yu nɔ kin ɛmti blad.

Wetin na di sayn dɛm fɔ Wolfram syndrome tayp 2?

Pipul wae gɛt Wolfram syndrome tayp 2 kin gɛt sɔm kayn sik wae de mɛk dɛn gɛt dis kayn sik.

• Blɔd we nɔ de kɔmɔt fayn.
• Ɔlsa dɛn we de na di bɛlɛ.

Bɔt pipul dɛm wae gɛt tayp 2 nɔr kin gɛt dis kayn sik wae dɛn kɔl dayabitis insipidus ɛn dɛn kin gɛt prɔblɛm wit dɛn maynd.

Wetin kin mek pɔsin gɛt Wolfram Syndrome?

As wi bin dɔn tɔk, dis kin apin bikɔs ɔf di tin dɛn we de apin na di bɔdi. di praymar kכz na di inhεrit fכ sכm mכtεshכn dεm na di jin dεm (WFS1) כ (WFS2 (CISD2) frכm mama εn papa to pikin dεm.

Aw fɔ no bɔt dis sik?

Infakt, sɔntɛnde, fɔ no if yu gɛt Wolfram syndrome kin tranga smɔl. Bikɔs dɔktɔ dɛn kin trit ɛni wan pan di sik dɛn difrɛn we, dɛn nɔ kin no wantɛm wantɛm se dɛn ɔl na pat pan di sem sik. Bɔrku tɛm, na afta sɔm sayn dɛm dɔn sho na in dɛn kin sɔprayz se i kin bi Wolfram syndrome.

If dɔktɔ saspek dis, i go se dɛn fɔ tɛst di jenɛtiks.dis tεst kin kכrekt fכ no if eni mכtεshכn de insay di jin dεm (WFS1) εn (WFS2 (CISD2).Dis kin kכnfכm di diagnosis.

Aw dɛn kin trit Wolfram Syndrome?

Bɔt i sɔri fɔ no se naw, no standad tritmɛnt nɔ de fɔ mɛn dis sik kpatakpata, fɔ stɔp di sik fɔ go bifo, ɔ fɔ mek i slo. Naw, ɔl wetin dɛn de du na fɔ kɔntrol di sayn dɛm we de kam. Fɔ ɛgzampul:

• Dɛn kin gi pipul dɛn we gɛt dayabitis insulin fɔ kɔntrol di shuga we dɛn gɛt na dɛn blɔd.
• Di wan dɛn we nɔ de yɛri fayn kin yuz ɛp fɔ yɛri.
• Dɛn kin trit ɔda sayn dɛn bak di we aw dɛn fɔ trit am.

Dɛn de du risach bɔt ɛni nyu tritmɛnt?

Yɛs, dis na gud nyus! Risach pipul dɛm de kɔntinyu fɔ fɛn nyu tritmɛnt dɛm wae kin mek pipul dɛm wae gɛt Wolfram syndrome bɛtɛ layf. Na sɔm pan di tritmɛnt dɛm wae pipul dɛn de pe atɛnshɔn pan naw:

• Drug dεm we de ridyus di damej pan di sεl dεm we de kכz fכ disrupshכn di protin fכnshכn.
• jin tεrapi de ripa di כltεr (WFS1) εn (WFS2 (CISD2) jin dεm כ riples dεm wit gud jin dεm.
• Rijeneretiv tɛrapi na tritmɛnt we de mɛn di tisu we dɔn pwɛl ɔ we de mek nyu tisu.

Sɔm pan dɛn tritmɛnt ya dɔn ɔlrɛdi de na klinik trial. Ɔda wan dɛn stil de na di risach pat. Tɔk to yu dɔktɔ bɔt dɛn nyu tritmɛnt ya. I go ebul fɔ tɛl yu if dɛn rayt fɔ yu ɔ yu pikin.

Yu tink se dɛn kin ebul fɔ avɔyd di sik we dɛn kɔl Wolfram Syndrome?

כnכfכs, dεn n כ kin ebul fכ avεnt di jεnεtik kכndyushכn lεk Wolfram syndrome.

Dis sik de kil pɔsin?

Dɛn se pipul dɛm wae gɛt Wolfram syndrome kin gɛt jɛnɛral po prognosis. Insay wan stɔdi we dɛn bin du pan 45 pipul dɛn, dɛn bin de liv bitwin 25 ɛn 49 ia, ɛn dɛn bin de liv lɛk 30 ia so. Bɔku tɛm, di tin we kin mek pɔsin day na we di bren stem kin wik smɔl smɔl, we na di pat pan di bren we de kɔntrol impɔtant tin dɛn lɛk fɔ blo ɛn fɔ bit di at.

Bɔt dis sityueshɔn de impɔtant smɔl bikɔs ɔf di impɔtant we dɛn fɔ no di sik, di impɔtant we aw dɛn de mɛn di sik, ɛn di op fɔ nyu tritmɛnt.

Ustɛm yu fɔ tɔk to dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks?

If pɔrsin na yu famili gɛt Wolfram syndrome, ɔr gɛt histri bɔt dis, i impɔtant fɔ tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks. Wan simpul blɔd tɛst ɔ saliva sɛmpul kin tɛl yu:

• Wetin na yu risk fɔ gɛt pikin wit dis sik?
• Fɛn ɔut if yu pikin gɛt Wolfram syndrome bifo di sayn dɛm sho.

Pan ɔl we naw nɔr gɛt mɛrɛsin fɔ Wolfram syndrome, risach ɛn klinik trial dɔn sho se i prɔmis fɔ gɛt nyu tritmɛnt. If yu ɔ sɔmbɔdi na yu famili gɛt Wolfram syndrome, aks yu dɔktɔ bɔt dɛn klinik trial ya.

Fɔ liv wit wan sik wae nɔr kin bɔrku lɛk Wolfram Syndrome kin tranga pasmak, ɛn e kin tranga pasmak. Bɔt mɛmba se yu nɔ de ɛva de yu wan. Aks yu dɔktɔ fɔ di sɔpɔt, infɔmeshɔn, ɛn sɔntɛm ivin ɛp yu fɔ kɔnɛkt wit ɔda pipul dɛn we de go tru di sem tin. Da kayn sɔpɔt de kin rili ɛp wi.

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

Wolfram Syndrome na wan sik wae nɔr kin bɔrku ɛn wae kin kɔmpleks. Bɔt i impɔtant fɔ no bɔt am, no di sayn dɛn kwik kwik wan, ɛn go to dɔktɔ we fit yu.

• Yu fɔ no bɔt di sayn dɛn we kin apin kwik kwik wan: Go to dɔktɔ, mɔ if di pikin gɛt dayabitis (Diabetes Mellitus) ɛn i gɛt prɔblɛm wit di we aw i de si (Optic Atrophy) we i yɔŋ.
• I Impɔtant fɔ gi yu jenɛtik advays: If pɔsin na yu famili gɛt dis sik, tink bɔt aw fɔ advays yu jɛnɛtiks ɛn tɛst am.
• Dɛn kin kɔntrol di sayn dɛm: Pan ɔl we naw nɔr gɛt kɔmplit mɛrɛsin, dɛn kin trit di sayn dɛm ɛn kɔntrol di kwaliti fɔ layf to sɔm mak.
• Bi op fɔ nyu tritmɛnt: Risach de kɔntinyu, so wi kin op fɔ gɛt bɛtɛ tritmɛnt tumara bambay.
• Nɔto yu wan de: I kin tranga fɔ mek yu maynd strɔng pan dis kayn tin. Bɔt, gɛt ɛp frɔm dɔktɔ dɛn, famili, ɛn sɔpɔt grup dɛn.

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