Yu dɔn ɛva yɛri bɔt Refsum Disease? Lɛ wi tɔk bɔt dis sik we nɔ kin apin so ɔltɛm!

Yu dɔn ɛva yɛri bɔt sɔntin we dɛn kɔl ‘Refsum Disease’? Sɔntɛm dis nem na nyu tin smɔl to bɔku pipul dɛn. Bikɔs na sik we nɔ kin bɔku, dat na sik we pɔsin kin gɛt we i nɔ kin si. Bɔt i rili valyu fɔ no smɔl bɔt tin dɛn lɛk dis. Tide, wi go tɔk bɔt Refsum Disease simpul wan, insay wan we we yu go ɔndastand.

Wetin rili na Refsum Disease?

Fɔ tɔk am simpul wan, Refsum sik na wan jenɛtik disɔda we de afɛkt tu difrɛn ɔgan dɛn. Wan na Infantile Refsum Disease , ɛn di ɔda wan na Adult Refsum Disease . dεn tu de pan wan big grup fכ sik dεm we dεn kכl ``Peroxisomal disorders.'' Wetin kin apin pan dis na dat biכs fכ sכm chenj dεm (wi kכl dεn ``mכtεshכn'') dεm na di jin dεm na wi bכdi, sכm kayn fεt dεm nכ kin brok dכn fayn fayn wan, dat na, dεn nכ kin ebul fכ digεst. if yu gεt dis kכndyushכn, yu bכdi de lכs di εnzym dεm we de εp fכ brok dכn wan kayn fεt we dεn kכl ``Phytanic acid.'' Wetin de apin na dat ``Phytanic acid'' de bigin fכ kכlכm na di bכdi. Tink bɔt am lɛk smɔl dɔti na wi os ɛn i kin mek prɔblɛm.

Wetin na di difrɛns bitwin big pɔsin Refsum ɛn bebi Refsum?

pan di tu kayn Refsum sik, yu kin si di lכs pan di vishכn εn di akyumyuleshכn fכ `(Phytanic acid)` na di bכdi we a bin tכk bכt. bכt dεn tu kכndishכn ya kin apin biכs fכ chenj (`(mכtεshכn)`) insay tu difrεn jin dεm bifo wi ivin bכn.

• Infantile Refsum Disease: Dis na wan pan wan grup fɔ sik dɛm we dɛn kɔl Zellweger spectrum disorders. I kin mek bebi ɛn smɔl pikin dɛn gɛt sɔm sayn dɛn. Fɔ ɛgzampul, di mɔsul dɛn we de flɔp , di we aw i nɔ de it fayn , i kin gɛt sik we i de fil , i kin delay fɔ mek i gro , ɛn i kin gɛt sik na di liva . Infantile Refsum na wan sik we siriɔs pas di big pipul Refsum. di tεm we di pikin dεm we gεt dis kכndyushכn kin liv kin difrεn, bכt i kin fכ kil.

• Adult Refsum Disease: Dis kin apin leta pikin ɔ leta. I kin mek yu nɔ de si fayn igen , yu nɔ de smɛl igen , yu an ɛn fut dɛn nɔ de fil fayn ɔ yu wik , ɛn yu nɔ de yɛri fayn . difrεnt lεk infantil Refsum, dis nכ de afekt di bren. So, dεn nכ kin si di sik we dεn kin gεt כ divεlכpmεnt delay. Bɔt, risk de fɔ mek yu gɛt siriɔs at prɔblɛm leta na yu layf.

Aw kɔmɔn sik na Refsum?

Refsum sik na rili wan tin we nɔ kin apin so ɔltɛm . Infantile Refsum sik kin apin pan lɛk wan pan ɔl wan ɔndrɛd tawzin pipul dɛm. Adult Refsum sik kin ivin shɔt, i kin apin pan lɛk wan pan ɔl wan milyɔn. So yu kin imajin aw dis nɔ kin apin so ɔltɛm.

Wetin na di sayn dɛm fɔ Refsum sik?

De sayn dɛm fɔ Refsum sik kin difrɛn difrɛn wan fɔ di ej wae yu bigin fɔ gɛt de sik.

Infantil Refsum fɔ pikin dɛn

If yu pikin gɛt di sik we dɛn kɔl Refsum, i kin rili flop we dɛn bɔn am, lɛk se dɛn nɔ gɛt layf. Dɛn kin gɛt prɔblɛm bak fɔ gi dɛn bɛlɛ . Dɛn sayn dɛm kin dipen pan aw di sik kin tranga. Dɛn kin gɛt sik wae de mɛk dɛn sik, ɔr dɛn kin gɛt abnɔmal tin na dɛn ɔgan ya:

• Kidni (`(Kidni)`)
• Liva (`(Liva)`)
• Bɔn dɛn (espɛshali lɔng bon dɛn) .

Sɔntɛnde, pikin dɛn we gɛt siriɔs sik kin day insay di fɔs ia we dɛn de liv.

Pikin dɛn we dɔn big kin gɛt tin dɛn lɛk:

• Divɛlɔpmɛnt disabiliti dɛn
• Pɔsin we nɔ de gro fayn
• Prɔblɛm fɔ si ɛn yɛri

Adult Refsum fɔ big pipul dɛn

Di fɔs sayn fɔ big pɔsin we gɛt Refsum sik na we yu nɔ de si fayn na nɛt . dis kin kכz fכ wan kכndyushכn we dεn kכl `(Retinitis pigmentosa)`. Yu pikin kin notis dis we aw i nɔ kin si fayn na nɛt we i dɔn rich tɛn ia, we i ol lɛk tɛn ɔ fɔtin ia. Ɔ dɛn nɔ kin sho ɛni sayn te dɛn big. as dεn de ol, dis `(Retinitis pigmentosa)` kכndyushכn kin mek dεn lכs di pεriferal vishכn εn te go mek dεn blaynd kכmplit .

Ɔda big pipul dɛn Refsum simptom dɛn na:

• Lɔs di sɛns fɔ smɛl (`(Anosmia)`)
• Di limb dɛn kin swɛla ɔ bɔn
• I nɔ de yɛri fayn igen
• Balans ishu dɛn
• Ichthyosis (di pat dɛn we gɛt rɔf, we gɛt skel na di skin) .
• Blɔr vishɔn, lɛk se katarakt de fɔm na di yay (`(Cataracts)`)
• Bɔrku at sik, fɔ ɛgzampul, at nɔr de bit ɔltɛm (arrhythmia) ɔr at nɔr de woke fayn (at nɔr de woke fayn) .

Wetin na di kɔmplikɛshɔn dɛm wae de kam wit Refsum sik?

Rifsum insay bebi na wan sik we rili siriɔs ɛn we de mek dɛn nɔ gɛt bɛtɛ trɛnk . Pikin dɛn kin gɛt siriɔs prɔblɛm wit aw dɛn de it, dɛn kin gɛt sik, dɛn kin si ɛn yɛri. Dɛn layf kin shɔt bikɔs ɔf di prɔblɛm dɛn we kin apin we dɛn de blo.

Na big pipul Refsum, yu vishɔn de wɔs smɔl smɔl as tɛm de go. Wikɛdnɛs, nɔr de fil fayn, ɛn prɔblɛm wae de mɛk pɔrsin de balans bak smɔl smɔl. Sɔntɛnde, we yu gɛt strɛs na yu bɔdi, lɛk we yu gɛt big sik ɔ du ɔpreshɔn , di lɛvɛl dɛn fɔ `(Phytanic acid)` we a bin tɔk bɔt kin rili ay. Dɔn di at kin bit ɔltɛm ɔr kin wik pasmak. If dɛn nɔ trit dɛn, dɛn at ritm ya we nɔ de rit (`(Arrhythmias)`) kin ivin mek pɔsin in layf de pan denja.

Wetin kin mek pɔsin gɛt Refsum sik?

Rifsum sik de kam bay we yu chenj (myuteshכn) na wan jin we yu gεt we yu bכn. Yu kin gɛt dis muteshon frɔm yu mama, yu papa, ɔ ɔl tu.

i pas twεv jin dεm we kin mek infantil Refsum. Fɔ dɛn wan ya, di wan dɛn we kɔmɔn pas ɔl na `(PEX1)` (lɛk 60%), `(PEX6)` (lɛk 15%), `(PEX12)` (lɛk 7.6%) ɛn `(PEX26)` (lɛk 4.2%).

Adult Refsum sik de kכz am bak bay wan jεnεtik mכtεshכn we de de we dεn bכn am εn we de pas dכn tru jεnereshכn. lεk nayn pan tεn pipul dεm we gεt adכlt Refsum sik gεt mכtεshכn na di jin `(PHYH)`. mכst כda wan dεm gεt mכtεshכn na di jin `(PEX7)`.

Tink bɔt am lɛk wan smɔl faktri na wi bɔdi usay sɔm impɔtant mashin dɛn kin pwɛl. Prɔblɛm dɛn lɛk dis kin apin we dɛn mashin dɛn we dɛn kɔl jin nɔ de wok fayn.

Aw dɛn kin no if pɔsin gɛt Refsum sik?

Dɔktɔ dɛn kin yuz difrɛn tɛst fɔ no if yu gɛt Refsum sik, i kin dipen pan yu ej. Dɛn kin du jenɛtik tɛst bak fɔ luk fɔ jɛnɛtik muteshon we de mek pɔsin gɛt Refsum sik.

• fכ bebi Refsum: di tεst dεm we dεn kכmכn pas כl na fכ mεzj vεri lכng chen fεt asid dεm (`(vεri lכng chen fεt asid dεm)`), faytanik asid (`(faytanik asid)`), εn pristanik asid (`(pristanic acid)`).
• Fɔ big pɔsin Refsum: Yu dɔktɔ kin fɔs tek blɔd sɛmpul ɛn tɛst yu `(Phytanic acid)` lɛvɛl.

Aw dɛn kin trit di sik we dɛn kɔl Refsum?

Tritmɛnt fɔ Infantil Refsum

If yu pikin gɛt infantile Refsum sik, di dɔktɔ go disayd fɔ trit am bay di pikin in simptom dɛm. Dis kin inklud tin dɛn lɛk:

• Tiub fɔ it tin dɛn
• Katarakt we dɛn kin pul (`(Katarakt we dɛn kin pul)`)
• Glasis
• Di tin dɛn we pɔsin kin yuz fɔ yɛri (`(Ep fɔ yɛri)`)
• Vitamin dɛn we dɛn kin yuz
• Mɛrɛsin dɛn we de mek pɔsin nɔ gɛt sik
• Difrεn tεrapi dεm εn εli intavεnshכn sεvis fכ divεlכpmεnt dilay (`(thεrapi/εli intavεnshכn sεvis)`)

Tritmɛnt fɔ Adult Refsum

We yu de trit big pipul dɛn Refsum sik, yu kin nid fɔ stɔp fɔ it tin dɛn we de mek yu bɔdi gɛt faytanik asid. Fɔ ɛgzampul:

• Bif ɛn ship pikin
• Di tin dɛn we dɛn kin mek wit milk
• Fish we gɛt ɔyl, lɛk kɔd, tuna, ɔ hadɔk.

sכm pipul kin nid tritmεnt bak we dεn kכl ``Plasmapheresis'' fכ kכntrכl di akyumyuleshכn fכ ``Phytanic acid''. Insay ``Plasmapheresis'', dɔktɔ kin tek sɔm pan yu blɔd, filta di ``Phytanic acid'' we pasmak, ɛn afta dat i kin gi yu da blɔd de bak. Pan ɔl we dis na tritmɛnt we kɔmplikt smɔl, i kin rili bɛnifit sɔm pipul dɛn.

Yu tink se Refsum sik nid tritmɛnt fɔ at sik?

Na big pipul dɛm wae gɛt Refsum sik, if yu gɛt at bit we nɔr de bit ɔltɛm, yu kin nid tritmɛnt fɔ kɔntrol yu at rit. Dis kin inklud:

• Di kayn mɛrɛsin dɛn we dɛn kin yuz:Dɛn kin gi mɛrɛsin dɛn lɛk `(Beta-blockers)`, `(Calcium channel blockers)`, ɔ `(Anticoagulants)` we de ridyus di blɔd we de klɔt fɔ kɔntrol di at rit ɔ fɔ ridyus di risk fɔ gɛt strok.
• Cardioversion: Na di administreshɔn fɔ wan kɔntrol ilɛktrik shɔk fɔ mek di at bit bak di nɔmal.
• Implantable cardioverter defibrillator (ICD): Dis na tin we dɛn kin put ɔnda yu skin. I de wach ɛn rigul yu at bit.
• Catheter ablation: Dis na wan we we nɔ kin tek bɔku tin ɛn we kin mek pɔsin pwɛl di at tisu we gɛt sik bay wilful fɔ mek i nɔ bit di at we nɔ de bit ɔltɛm.

Wetin pɔrsin wae gɛt Refsum sik kin ɛkspɛkt?

Pikin dεm we gεt infantil Refsum kin gεt siriכs divεlכpmεnt dilay εn dεn nid bכku mεdikal intavεnshכn. I sɔri fɔ no se pan ɔl we dɛn kin kia fɔ dɛn pikin dɛn di bɛst we, di kayn we aw di sik kin tranga ɛn di kayn we aw dɛn kin sik kin mek dɛn pikin ya nɔ liv lɔng.

Bɔrku pipul dɛm wae gɛt big pipul Refsum kin ebul fɔ manej dɛn simptom dɛm bay wae dɛn kin stɔp fɔ it tin dɛm wae gɛt bɔku `(Phytanic acid)`. Wit tritmɛnt, di sayn dɛm lɛk dray skin ɛn swɛt kin go bɔrku. Bɔt yu kin gɛt fɔ liv wit lɔng tɛm we yu nɔ de si ɔ yɛri. Sɔm pipul dɛn nɔ kin ɛva gɛt di sɛns we dɛn bin dɔn lɔs fɔ smɛl bak.

Aw fɔ ridyus di risk fɔ gɛt Refsum sik?

Bikɔs Refsum sik na jenɛtik disɔda, no we nɔ de fɔ mek dɛn nɔ gɛt am.

If yu gɛt Refsum sik, ɔ yu tink se yu kin gɛt di sik, yu kin tink bɔt fɔ du jenɛtik tɛst. jεnεtik tεst kin fכ no di jin mכtεshכn we de mek di Refsum sik. Wan pɔsin we de advays yu bɔt di jɛnɛtiks kin ɛp yu fɔ ɔndastand di tin dɛn we dɛn dɔn du fɔ di tɛst ɛn ɛksplen di chans we yu pikin dɛn gɛt fɔ gɛt di sik we dɛn kɔl jenɛtiks.

Wetin a fɔ aks mi dɔktɔ?

If yu gɛt Refsum sik, ɔ yu tink se yu gɛt am, yu kin aks yu dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• Wetin na di fɔs sayn dɛm fɔ Refsum sik?
• Us tɛst dɛn kin yuz fɔ no if pɔsin gɛt Refsum sik?
• Wetin na di tritmɛnt opshɔn dɛm fɔ Refsum sik?
• A fɔ gɛt jenɛtik tɛst fɔ Refsum sik?
• Wetin na di chans fɔ mek mi pikin gɛt Refsum sik?

Na nɔmal tin fɔ mek yu fred we yu kam fɔ no se yu ɔ yu pikin gɛt wan sik we nɔ kin apin so ɔltɛm. Bɔt fɔ gɛt diagnosis na di fɔs tin fɔ ɔndastand wetin de apin.

Fɔ sɔmtin (Tek-Home Message) .

Refsum Disease na wan sik wae nɔr kin bɔrku ɛn kin kɔmpleks. Bɔt if dɛn no di sik fayn fayn wan ɛn trit am kwik kwik wan, .Wit tritmɛnt, mɔ pan big pipul dɛn we gɛt Refsum sik, i pɔsibul fɔ kɔntrol di sayn dɛm ɛn liv gud layf. Pan ɔl we di kɔndishɔn fɔ di pikin we nem Refsum kin tranga mɔ, i rili impɔtant fɔ gi di pikin di maksimal kia ɛn sɔpɔt we i nid.

If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, ɔ if yu tink se sɔmbɔdi na yu famili gɛt dɛn sik ya, nɔ ɛva shem fɔ go to dɔktɔ. E kin bi big ɛp bak fɔ jɔyn sɔpɔt grup dɛm wae de ɛp pipul dɛm wae gɛt dis sik wae nɔr kin bɔrku ɛn dɛn famili. Pan ɔl we ɔlman in ɛkspiriɛns difrɛn, we yu tɔk to ɔda pipul dɛn, dat kin ɛp yu fɔ lɛ yu nɔ fil se yu wangren de.

` Refsum sik, Refsum sik, jεnεtik sik, faytik asid, vishכn prכblεm, yεri εnjɔy, bebi Refsum, big Refsum