Wetin na Fabry Disease? Lɛ wi lan bɔt dis sik we nɔ kin apin so ɔltɛm

Sɔntɛnde, yu kin gɛt bɔn we yu nɔ ebul fɔ bia na yu an ɛn yu fut fɔ natin? Ɔ yu kin fil taya bad bad wan ɛn yu nɔ kin swet, ɛn yu kin gɛt smɔl smɔl rɛd spat dɛn na yu skin? Yu kin tink se dɛn tin ya na nɔmal tin. Bɔt dɛn tin ya kin bi sayn dɛn bak fɔ wan sik we nɔ kin apin so ɔltɛm we dɛn kɔl Fabry Disease , we wi nɔ yɛri bɔku bɔt. Nɔ wɔri, wi go tɔk bɔt wetin na dis nem, wetin mek i kin apin, wetin na di sayn dɛm, ɛn if tritmɛnt de, na dis atikul tide.

Wetin rili na Fabry Disease?

Fɔ tɔk am simpul wan, Fabry sik na wan sik wae de kam wit wan jenɛtik dɛfekt na wi bɔdi. wetin kin apin na dat di prodakshכn fכ wan imכtant εnzym na wi bכdi de rεdכks כ nכ de kכmplit. di nem fכ dis εnzym na alfa-galaktosidayz A , כ `(alfa-GAL)` fכ sכt.

Imajin se wi bɔdi gɛt wan sistem we tan lɛk kɔmni we de trowe dɔti. dis enzym we dεn kכl `alpha-GAL` na di smatest wokman na da kכmpani de. di wok we i de du na fכ klin εn brok dכn di sfingolipid dεm fayn fayn wan, we na wan kayn fεt (mכr prεsis, wan tin we lεk fεt) we de kכmכt insay wi sεl dεm.

naw, insay di bכdi fכ pכsin we gεt Fabry sik, dis kleva wokman, di `alpha-GAL` εnzym, nכ de insay inof kwantiti. Wetin kin apin da tɛm de? dεn fεt dεm we lεk dכti we dεn kכl `sphingolipids` de bigin fכ kכmכt na di bכdi. Jɔs lɛk aw bɔku bɔku dɔti kin gɛda na os if dɛn nɔ pul di dɔti. dis kayn fεt kin mεntal wan na wi bכdi vεsul dεm, at, kidni dεm, bren, nεv sεstem εn skin. We di fat kin gɛda lɛk dis as tɛm de go, dɛn ɔgan dɛn de kin bigin fɔ pwɛl. Dis de pan wan grup fɔ sik dɛn we dɛn kɔl lysosomal storage disorders .

Wetin na di men kayn dis sik?

Dɛn kin sheb Fabry sik to tu men kayn, i kin dipen pan di ej we di sik bigin fɔ sho.

Dis sik kin kɔmɔn? Udat kin gɛt am?

Fabry sik na wan sik wae nɔr kin bɔrku. Akɔdin to sɔm statystik, di klas fɔm kin apin pan lɛk wan pan ɛvri 40,000 man dɛm. Bɔt di fɔm we kin bigin let kin bɔku smɔl. I kin afɛkt bitwin wan pan ɛvri 1,500 ɛn 4,000 man dɛn.

I nɔ kin izi fɔ tɔk klia wan aw dis sik bɔku pan uman dɛn, bikɔs sɔm uman dɛn nɔ kin gɛt ɛni sayn atɔl, ɔ dɛn kin jɔs gɛt sɔm kayn sik, ɛn so dɛn kin liv we dɛn nɔ no se dɛn gɛt dis sik.

Dis na aw i kɔmɔt frɔm jɛnɛreshɔn dɛn.

Dis na sik we pɔsin kin gɛt we i kam pan jɛnɛtiks, we min se i kin pas frɔm mama ɛn papa to pikin dɛn. Di jin we nɔ fayn we de mek dis de na wi X kromozom . Lɛ wi si aw dis kin rɔn na famili.

• If di papa gɛt di sik: Papa we gɛt Fabry sik kin pas in X kromozom to ɔl in gyal pikin dɛn . Dis min se ɔl in gyal pikin dɛn go gɛt di jin we de chenj fɔ di sik. Bɔt bɔy pikin dɛn nɔ de pan denja . dis na biכs pikin dεm de gεt di Y kromozom frכm dεn papa, nכto di X kromozom.
• If di mama gɛt di sik: Mama we gɛt Fabry sik gɛt 50% chans fɔ pas di X kromozom we nɔ fayn to ɛni wan pan in pikin dɛn (ilɛksɛf na gyal pikin ɔ bɔy pikin) . I tan lɛk se yu de flip kɔyn. Wan pikin kin gɛt di sik, ɛn di ɔda wan nɔ kin gɛt am.

Wetin na di sayn dɛm fɔ Fabry sik?

Di sayn dɛm kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Sɔm pipul dɛn kin gɛt sɔm kayn sik wae nɔr kin pasmak, ɛn ɔda wan dɛn kin gɛt siriɔs sayn dɛm. Bɔku tɛm, man dɛn kin gɛt mɔ siriɔs sik pas uman dɛn.

Dis na sɔm pan de sayn dɛm wae dɛn kin si:

• Pen na di an ɛn fut: Di an ɛn fut kin fil lɛk se i nɔ gɛt bɛtɛ trɛnk, i kin swɛt, ɔ i kin bɔn. Dis pen kin wɔs we yu de du ɛksɛsayz.
• Sεnsitiviti to tεmprachכ: I nɔ kin ebul fɔ bia wit ɔt ɔ kol pasmak.
• Di swet we de go dɔŋ: Sɔm pipul dɛn kin swet smɔl (haypohidrosis) . Ɔda wan dɛn nɔ kin swet atɔl (anhidrosis) .
• Skin chenj: Smɔl, rayz, dak rɛd ɔ pepul spat dɛn kin apin na say dɛn lɛk di chɛst, bak, ɛn di say we di uman in bɛlɛ de. Dɛn kɔl dɛn tin ya angiokeratoma .
• di yay de chenj: wan spεshal patεn de divεlכp pan di kכnia na di yay. Dɛn kɔl dis kɔnia verticillata . Bɔt dis nɔ kin afɛkt di we aw pɔsin de si ɛni we. Na dɔktɔ nɔmɔ kin si dis wit spɛshal tin (slit lamp).
• Prɔblɛm fɔ di dijestiv sistɛm: Prɔblɛm lɛk bɛlɛ pen, blo, dayarɛa, ɔ kɔnstipɛshɔn kin apin bɔku tɛm.
• Kɔmɔn sayn dɛm: Taya, diziz, fiva, ɛn bɔdi pen (lɛk flu) kin apin.
• Prɔblɛm fɔ yɛri: I kin apin we yu nɔ de yɛri ɔ yu kin ring na yu yes (tinnitus) .
• di ifekt dεm pan di kidni dεm: di protin lεvεl dεm na di urine de inkrεs (proteinuria) .
• Swel: Leg, ankles, ɛn fut kin swel (edema) .

Wetin na di denja kɔmplikeshɔn wae kin kam bikɔs ɔf dis sik?

כva plεnti ia, we dεn fεt dεm ya we dεn kכl `sphingolipids` de kכmכt na di bכdi kin mek di bכdi vεsul dεm εn כgan dεm siriכs damej. Dis kin mek yu gɛt prɔblɛm dɛn we kin ivin mek yu layf de pan denja.

Di men prɔblɛm dɛn we kin apin na:

• At sik: Kɔndishɔn lɛk at bit we nɔ de bit ɔltɛm (arrhythmia) , at atak, at we big, ɛn at we nɔ de wok fayn .
• Kidni we nɔ de wok fayn: If di kidni dɛn pwɛl, i kin mek i nɔ ebul fɔ wok igen.
• Prɔblɛm na di nerve: If di peripheral nerve dεm dεm (peripheral neuropathy) i kin mek di limb dεm de fil pen εn sכmtεm sכmtεm.
• Strɔk: We di blɔd vesel dɛn blok to di bren, i kin mek pɔsin paralayz ɔ transient ischemic attack (TIA) .

Aw fɔ no di sik? (Diagnosis) .

If yu dɔktɔ sɔspɛkt Fabry sik, i go ɔda fɔ du bɔku tɛst fɔ no if yu gɛt di sik.

• Enzyme assay: .Dis na blɔd tɛst. dis de mכsu di lεvεl fכ di `alpha-GAL` εnzym na yu bכdi. If dis lɛvɛl nɔ rich 1%, dɛn kin sɔprayz se di sik. Bɔt, na man dɛn nɔmɔ dɛn kin abop pan dis tɛst. dis nכ fayn fכ uman dεm, biכs dεn εnzym lεvεl kin chenj insay nכmal tεm.
• Jɛnɛtik tɛst: Dis na di bɛst we fɔ kɔnfirm di sik. DNA sikεns tεkn כlכji kin kכrekt fכ no if mכtεshכn de, כ difεkt, insay di GLA jin , we de instrכkt di prodyushכn fכ di `alpha-GAL` εnzym.
• Fɔ chɛk di pikin dɛn we dɛn jɔs bɔn: Insay sɔm kɔntri dɛn, dɛn kin chɛk di pikin dɛn we dɛn jɔs bɔn fɔ si if dɛn gɛt dɛn sik ya.

Wetin na di tritmɛnt fɔ Fabry sik?

No mɛrɛsin nɔ de fɔ Fabry sik. Bɔt sɔm tritmɛnt dɛn de we go ɛp fɔ kɔntrol di sik dɛn ɛn mek di fat we de ambɔg di bɔdi nɔ bɔku. Di men gol fɔ dɛn tritmɛnt ya na fɔ mek dɛn nɔ gɛt at sik, kidni sik, ɛn ɔda siriɔs prɔblɛm dɛn.

Apat frɔm dɛn men tritmɛnt ya, dɛn kin gi difrɛn mɛrɛsin fɔ pen ɛn prɔblɛm dɛn na yu bɛlɛ. Sayɛnsman dɛn de mek nyu tritmɛnt dɛn bak we dɛn de yuz jenɛtik injinɛri tɛknɔlɔji.

Aw layf go tan lɛk wit dis sik? (Autluk) .

Fabry sik na sik we de go bifo. Dis min se di risk fɔ gɛt di sik ɛn prɔblɛm dɛn kin bɔku wit di ej. Dis sik kin mek yu layf shɔt. Na avrej, man dɛm we gɛt di klas fɔm de liv te to dɛn let 50s ɛn uman dɛn de liv insay dɛn 70s.

Bɔt di tin we impɔtant pas ɔl na dat , if yu gɛt di rayt tritmɛnt, mɔ we yu tek kia ɔf di wɛlbɔdi na di at ɛn kidni, yu kin ad bɔku ɔda ia to yu layf.

Yu tink se dɛn go ebul fɔ mek dis sik nɔ pas to pipul dɛn na dɛn famili?

Bikɔs dis na jɛnɛtik sik, if sɔmbɔdi na yu famili gɛt di jin muteshɔn we gɛt fɔ du wit dis sik, risk de fɔ mek yu pikin dɛn gɛt am. So, if yu ɔ sɔmbɔdi na yu famili gɛt dis sik, i rili impɔtant fɔ mit ɛn tɔk to pɔsin we de advays yu bɔt yu jɛnɛtiks .

Dis kayn spɛshal pɔsin kin ɛksplen aw yu pikin dɛn go gɛt di jin. Dɛn kin tɔk bak bɔt di tin dɛn we yu go ebul fɔ du if yu de plan fɔ bɔn pikin. Fɔ ɛgzampul, wan tin de we dɛn kɔl Preimplantation Genetic Diagnosis (PGD) . dis prosidכs de tεst di εmbriyo dεm bifo dεn tכn to di mama di tεm we dεn de du In Vitro Fεtilayzεshכn (IVF) fכ sεlekt hεlty εmbriyo dεm we nכ gεt di jin we nכ de wok fayn.

We yu fɔ go to dɔktɔ wantɛm wantɛm

If dɛn dɔn no se yu gɛt Fabry sik ɛn yu gɛt ɛni wan pan dɛn sayn ya, go to yu dɔktɔ wantɛm wantɛm ɔ go na di ɔspitul Imejɛnsi Dipatmɛnt (ETU) we de nia yu.

• Chɛst pen, at nɔ de bit ɔltɛm, i nɔ kin izi fɔ blo (dɛn tin ya kin bi sayn fɔ hat atak).
• Fɔ swel pasmak ɔ fɔ gɛt wata we de na di bɔdi.
• Bɔrku diziz, prɔblɛm wit yu yay, chenj na yu tɔk (dεn kin bi sayn dɛm fɔ strok).
• I nɔ de yɛri igen wantɛm wantɛm.
• Bɛlɛ kramp bad bad wan ɔ dayarɛa.

Impɔtant kwɛstyɔn dɛn fɔ aks yu dɔktɔ

We dɛn no se yu gɛt dis sik, i nɔmal fɔ gɛt bɔku kwɛstyɔn. Nɔ fɔgɛt fɔ aks dɛn kwɛstyɔn ya we yu go si yu dɔktɔ.

• Aw a bin gɛt Fabry sik?
• Us kayn Fabry sik a gɛt?
• Us tritmɛnt we bɛtɛ fɔ mi?
• Wetin na di bad tin dɛn ɛn di bad tin dɛn we kin apin to dɛn tritmɛnt dɛn de?
• Mi famili de pan denja fɔ gɛt dis sik? Yu tink se wi fɔ tɛst wi jɛnɛtiks?
• Us mɛrɛsin ɛn tɛst dɛn a fɔ kɔntinyu fɔ gɛt?
• Us sayn dɛm fɔ kɔmplikeshɔn dɛm a fɔ wɔri mɔ bɔt?

Na nɔmal tin fɔ fil bad ɛn wɔri we dɛn no se yu gɛt Fabry sik. Yu kin wɔri bɔt tumara bambay ɛn yu pikin dɛn. Bɔt mɛmba se naw, tritmɛnt dɛn de we rili fayn fɔ mɛn dis sik. Ɛn bɔku risach de we dɛn de du we de gi wi op fɔ tumara bambay. If yu fala yu tritmɛnt plan gud gud wan ɛn wok tranga wan wit yu dɔktɔ, yu go ebul fɔ kɔntrol yu sik dɛn, mek yu nɔ gɛt prɔblɛm fɔ lɔng tɛm, ɛn liv fayn layf.