Lɛ wi tɔk bɔt Familial Dysautonomia: Na wan sik we pɔsin kin gɛt frɔm in nervɔs sistɛm!

Yu dɔn ɛva yɛri se sɔm tin dɛn na wi bɔdi kin apin ɔtomɛtik wan, ɛn wi nɔ kin ivin no? Tink bɔt am, fɔ blo, fɔ digest it, fɔ rigul wi bɔdi tɛmpracha, fɔ saliva, fɔ kray... Ɔl dɛn tin ya kin apin ɔtomɛtik wan na wi bɔdi, dat na, wi nɔ tink bɔt dɛn. Bɔt, wetin kin apin if wikɛd ɔ prɔblɛm de na wi nervɔs sistɛm , we de kɔntrol dɛn ɔtomɛtik tin ya? Tide wi go tɔk bɔt dis kayn sik we nɔ kin apin so ɔltɛm, bɔt we rili siriɔs, we pɔsin kin bɔn wit. Dɛn kɔl dis famili Daysautonomia (FD) .

Wetin na Famili Dysautonomia?

Fɔ tɔk am simpul wan, famili dysautonomia (FD) na wan sik we yu bɔn wit we kin afɛkt yu nervɔs sistɛm. I kin afɛkt mɔ di pat dɛn na yu bɔdi we de kɔntrol di ɔtomɛtik prɔses dɛn . Dat na:

• We yu de blo
• Di we aw pɔsin de digest
• Kray wata we de fɔm
• Fɔ rigul blɔd prɛshɔn ɛn bɔdi tɛmpracha
• Di fɔmɛshɔn fɔ di saliva

Apat frɔm dis, i kin afɛkt yu sɛnsitiv nervous system bak . Dat min se:

• Tes
• Sεnsitiviti to pen εn tεmprachכ

Dis kכndyushכn de kכz fכ wan jin mכtεshכ n we dεn gεt frכm mama εn papa. Dɛn kin kɔl dis sik bak:

• Riley-Day sindrom we gɛt di sik
• HSAN tayp III hεridita sεns εn כtonomik nyuropati (Tayp III hεridita sεns εn כtonom nyuropati - HSAN tayp III)

I sɔri fɔ no se dis famili dysautonomia kɔndishɔn kin mek pikin dɛn nɔ ebul fɔ gro fayn ɛn i kin mek dɛn layf shɔt.

Udat kin gɛt dis sik?

Familial Dysautonomia nid pikin fɔ gɛt wan jin we nɔ fayn frɔm in mama ɛn papa ɔl tu . Dis na tin we nɔ kin apin so ɔltɛm. I kɔmɔn mɔ pan pipul dɛn we kɔmɔt na Ashkenazi Ju . Dɛn ripɔt se na lɛk wan pan ɛvri 10,000 Ashkenazi Ju pipul dɛn na Amɛrika ɛn lɛk wan pan ɛvri 3,700 pipul dɛn na Izrɛl, dɛn bɔn wit dis sik. Dis min se nɔto sik we de ambɔg ɔlman.

Wetin na di rizin fɔ dis?

Dis na bikɔs ɔf di chenj dɛn we de apin na di jin dɛn . Yu mama ɛn papa ɔl tu fɔ kɛr wan muteshon na wan jin we dɛn kɔl ELP1 . dis ELP1 jin de mek wan protin we de εp yu nεv sistεm fכ divεlכp. So, if mכtεshכn, כ dεfisit, de na dis jin, prכblεm kin apin pan di fכnshכn fכ pat dεm na di nεv sεstem. Fɔ tɔk am simpul wan, if wan impɔtant fɔnicha nɔ de we dɛn de bil os, di wan ol os go fɔdɔm.

Wetin na di sayn dɛm wae de sho se yu gɛt Familial Dysautonomia (FD)?

Di sayn dɛm fɔ dis sik kin bigin we dɛn smɔl . Di fɔs sayn dɛm na:

• I nɔ kin izi fɔ mek smɔl pikin sɔk: I nɔ kin izi fɔ mek smɔl pikin gi pikin in bɛlɛ fayn fayn wan.
• I nɔ izi fɔ swɛla (dysphagia): I nɔ kin izi fɔ swɛla it ɛn drink, fil lɛk se i de chok.
• Nɔ ebul fɔ kip di bɔdi tɛmpracha: di bɔdi in tɛmpracha kin go ɔp ɔ dɔŋ wantɛm wantɛm.
• Wae yu nɔr de kray we yu de kray: Dis na wan spɛshal sayn. Smɔl pikin nɔ de kray we dɛn de kray.
• Di pikin nɔ de gro fayn: di pikin in wet ɛn ayt nɔ de go ɔp di we aw i ol.
• di mכsul dεm we de wik (hypotonia): di bכdi de fil fכ sכmtεm sכmtεm sכmtεm.

As di pikin de ol, sɔntɛnde dɛn kin ol in briz, lɛk se dɛn de chok. Bɔt dis we aw pɔsin de ol di briz kin dɔn we i ol 6 ia.

As di sik de go bifo, ɔda sayn dɛn kin sho:

• di at bit abnכmaliti (arrhythmia): Di hat rit kin bi rεgulεr.
• Test abnormalities: Yu nɔ go ebul fɔ test it fayn.
• di spayna we nכ de kכba (scoliosis): i tan lεk se di spayna kכba to wan say.
• Prɔblɛm fɔ balans ɛn di we aw yu de waka: I nɔ kin izi fɔ waka, i kin gɛt prɔblɛm fɔ fɔdɔm.
• Bedwetting: Wet di bed na nɛt we yu de slip.
• Chronic acid reflux (GERD): Yu kin gɛt at bɔn ɔltɛm ɛn yu kin fil se yu at kin bɔn we yu de go ɔp to yu trot.
• Divεlכpmεnt delay: Tin dεm lεk fכ tכk εn waka de delay.
• Fɔ pul wata pasmak.
• Ay prɔblɛm: tin lɛk dray yay, strabismus.
• Nɔ ebul fɔ fil pen ɛn di tɛmpracha kin chenj: Dɛn nɔ kin fil wam, kol, kɔt, ɛn wund fayn fayn wan.
• I nɔ de si fayn ɛn i nɔ de si fayn igen.
• Lכng infεkshכn: Infεkshכn kin apin bכku tεm bikoz di mכkus de bכku na di lכng.
• di bon dεm we wik (כstioporosis) εn di risk fכ fraktכs de bכku.
• Wiknɛs fɔ kɔntrol aw yu de blo, mɔ we yu de slip.
• Di kɔndishɔn dɛn we kin mek pɔsin sik lɛk ɛpilepsi.
• Fɔ vɔmit.

Bɔrku pipul dɛm wae gɛt famili dysautonomia kin gɛt prɔblɛm fɔ kɔntrol dɛn blɔd prɛshɔn . Dis kin mek yu blɔd prɛshɔn dɔŋ we yu tinap (orthostatic hypotension), we kin mek yu diziz ɛn fɔdɔm. Ay blɔd prɛshɔn (haypa prɛshɔn) kin mek bak yu gɛt sik na yu kidni.

Na lɛk 40% pan di pipul dɛm wae gɛt dis sik kin gɛt sɔm kayn tɛm wae dɛn kin kɔl "autonomic crises" wae di sayn dɛm kin wɔs wantɛm wantɛm. Insay dɛn tɛm ya, dɛn tin ya kin apin:

• Fiva.
• Di at we de blo.
• Di ay blɔd prɛshɔn.
• Di skin we de rɛd.
• We pɔsin de swet.
• Fɔ vɔmit.

Imajin aw i go tranga fɔ lɛ smɔl pikin gɛt dɛn kayn prɔblɛm dɛn ya ɔltɛm. I at fɔ mek mama ɛn papa dɛnsɛf bia dis. Bɔt sɔlv dɛn de fɔ ɔl dis akɔdin to dɔktɔ dɛn advays.

Aw dɛn kin no bɔt di sik we dɛn kɔl Familial Dysautonomia (FD)?

Yu dɔktɔ go aks yu fɔs bɔt di sik dɛn we yu gɛt ɛn afta dat i go chɛk yu bɔdi .

Di men tin na fɔ si if kray wata de kɔmɔt we yu de kray. Fɔ pikin dɛn we nɔ rich 6 mɔnt yet, dɛn kin du wan tɛst we dɛn kɔl Schirmer tɛst :

• wetin yu de du na fכ put wan sכmכl filta pepa insay di pikin in lכw aylid.
• if, afta fayv minit, di mכsichכ na di lif nכ rich 10 mililita, dεn kin sכspεkt se di pikin kin gεt famili dysautonomia.

Apat frɔm dat, di dɔktɔ go luk bak pan dɛn tin ya:

• di tεndon rεflεks dεm we dεn dכn dכn: If yu gεt FD, yu mכsul dεm nכ go ansa we dכkta tap dεm layt wan.
• Riakshɔn to histamin injɛkshɔn: We pɔsin we gɛt FD gɛt dis injɛkshɔn, in skin nɔ de rɛd ɛn swel lɛk nɔmal pɔsin.
• Riakshɔn to mɛtakolin: Lɛk 20 minit afta yu dɔn put dis mɛrɛsin, di pupil na di yay go shrink if FD de.
• smol tכng we de sho: If yu gεt FD, yu tכng go luk sכft biכs di tεst bכd dεm (fungiform papillae) we de na di bak sεntrכm pan yu tכng nכ de.

If yu notis dɛn sayn ya, yu dɔktɔ kin tɛl yu fɔ du di jenɛtik tɛst , we min se yu fɔ tek blɔd sɛmpul ɛn chɛk fɔ di jenɛtik mutation we de mek yu famili nɔ gɛt bɛtɛ wɛlbɔdi.

Wetin na di tritmɛnt dɛm fɔ Familial Dysautonomia (FD)?

Di men tin we dɛn kin pe atɛnshɔn pan fɔ trit FD na fɔ ridyus di sayn dɛm . Difrɛn tritmɛnt dɛn de fɔ dis:

• Fɔ infɛkshɔn na di lɔng: Antibayɔtik ɔ chɛst fisiotɛrapi.
• Fɔ ɔtostatik haypɔtɛnshɔn: Kɔmpreshɔn sɔks ɔ pɔrmɛnt pesmɛka.
• Fɔ prɔblɛm wit yu brith we yu de slip: Divays dɛn lɛk CPAP ɔ BiPAP® (Bilevel Positive Airway Pressure).
• Fɔ protɛkt di kɔnia na di yay: Ay drɔp.
• Fɔ mek yu nɔ gɛt wata bikɔs yu de vɔmit: Gi intravenɔs salin (IV fluid).
• Fɔ GERD, kidni sik, saliva prodakshɔn, ɛpilepsi, ɔ vɔmit: difrɛn kayn mɛrɛsin.
• Fɔ mek di wok dɛn we yu de du ɛvride izi: Ɔkupeshɔn tɛrapi.
• Fɔ mek yu balans fayn: Fɔ mɛn yu bɔdi.
• Fɔ bak prɔblɛm: Ɔpreshɔn.
• fכ inkrεs nyutrishכn: fכ gi tכb fכ it (enteral nyutrishכn).

Dis tɛm ya, sɔm pipul dɛn we de stɔdi bɔt dis de kɔntinyu fɔ du klinik trial fɔ nyu tritmɛnt dɛn . Wi op se dɛn tritmɛnt ya go ebul fɔ trit nɔto jɔs di sayn dɛm bɔt di sik sɛf.

Yu tink se dɛn kin ridyus di risk fɔ gɛt famili dysautonomia (FD)?

Wi nɔ kin rili ridyus di risk fɔ gɛt FD, as na jenɛtik. Bɔt i impɔtant fɔ no bɔt di sayn dɛm ɛn go to dɔktɔ ɛn tritmɛnt kwik kwik wan .

If yu kɔmɔt na Ashkenazi Ju ɛn yu de plan fɔ bɔn pikin, i go fayn fɔ mek yu go to advays bɔt yu jɛnɛtiks . yu dכkta kin se bak fכ du di jεnεtik tεst fכ si if yu de kכri di ELP1 jin bifo כ we yu bεlε.

Wetin na de luk fɔ pɔrsin wae gɛt Familial Dysautonomia (FD)?

Nɔr mɛrɛsin nɔr de fɔ famili dysautonomia. Pipul wae gɛt dis sik kin liv shɔt pas di jenɛral pipul dɛm. Na lɛk af pan dɛn pipul ya kin liv te dɛn ol 30 ia. Ɔda wan dɛn kin liv te dɛn ol 70 ia.

We yu yɛri dis, dat kin mek yu fred smɔl ɛn fil bad. Bɔt mɛmba se if yu trit dɛn pipul ya di rayt we ɛn kia fɔ dɛn fayn fayn wan, yu go ebul fɔ ɛp dɛn pipul ya fɔ liv dɛn layf fayn ɛn we go mek dɛn gɛt satisfay.

Di sayn dɛm kin wɔs as tɛm de go. Fɔ ɛgzampul, lɛk 49% pan di pipul dɛm wae gɛt FD go nid ɛp fɔ waka we dɛn ol 50. Dɛn kin gɛt infɛkshɔn bak na dɛn lɔng ɔltɛm, lɛk nyumonia .

Aw pɔrsin wae gɛt Familial Dysautonomia (FD) kin kia fɔ insɛf?

Yu kin ɛp fɔ ridyus di prɔblɛm dɛn we yu kin gɛt bay we yu fala dɛn step ya:

• Nɔ mek di wɛda we wam ɔ wet.
• Limit tin dɛn we kin mek yu strɛs.
• Nɔ travul fɔ lɔng tɛm.
• Tray nɔ fɔ wet te yu blad ful-ɔp.

Dɔn bak, yu fɔ mek yu dɔktɔ chɛk dɛn tin ya ɔltɛm :

• Blɔd prɛshɔn.
• Yay.
• Di kidni dɛn we de wok.
• Di wok we di we aw pɔsin de blo.
• Spine.

Mɛsej we dɛn kin kɛr go na os

Familial dysautonomia (FD) na wan sik wae nɔr kin bɔrku, wae kin kam wit yu nervɔs sistɛm. I kin afɛkt spɛshal wok dɛn we yu nɔ want lɛk fɔ blo, fɔ digest, fɔ mek yu kray wata, fɔ kɔntrol blɔd prɛshɔn ɛn bɔdi tɛmpracha, ɛn fɔ mek saliva. I kin afɛkt bak di tin dɛm we yu de fil lɛk di we aw yu de te, pen, ɛn di tɛmpracha.

Pan ɔl we no kɔmplit mɛrɛsin nɔ de fɔ dis, tritmɛnt dɛn lɛk mɛrɛsin, difrɛn tritmɛnt, ɛn ɔpreshɔn kin kɔntrol di sik dɛn ɛn mek layf izi.Pan ɔl we pipul dɛn we gɛt famili dysautonomia kin gɛt shɔt layf, if dɛn gɛt di rayt tritmɛnt ɛn kia fɔ dɛn, dɛn kin liv fayn layf as dɛn ebul. Di tin we impɔtant pas ɔl na fɔ go to dɔktɔ kwik kwik wan if yu gɛt sɔm sayn dɛn ɛn fɔ de ɔnda dɔktɔ ɔltɛm.

` Famili dysautonomia, nεv sεstem, jεnεtik sik dεm, Riley-Day sεndrכm, pikin hεlth, simptom dεm, tritmεnt