Yu tink se ɛnibɔdi na yu famili gɛt wan sik we nɔ kin apin so ɔltɛm? Lan bɔt di Lysosomal Storage Disorders

Sɔntɛnde, i nɔ kin izi fɔ wi fɔ ɔndastand sɔm sik dɛn we kin kam to pɔsin na wi famili, mɔ to smɔl pikin. We wi go to dɔktɔ, wi nɔ kin no bɔt sɔm sik dɛn we i kin tɛl wi. So, tide wi de tɔk bɔt wan grup fɔ sik dɛn we bɔku pipul dɛn nɔ yɛri bɔt, bɔt i rili impɔtant fɔ no. Dɛn kɔl dɛn tin ya Lysosomal Storage Disorders. Pan ɔl we dis nem kin tan lɛk se i kɔmplikt smɔl we yu yɛri am, lɛ wi ɔndastand am simpul wan.

Wetin na di εksεkεkt lysosomal stכrej sik dεm (LSD)?

Okay, mek wi put am dis we. Wi bɔdi gɛt bɔku bɔku smɔl smɔl sɛl dɛn. Insay ɛni wan pan dɛn sɛl ya, wan spɛshal pat de we dɛn kɔl ‘laysɔsɔm.’ Tink bɔt am lɛk ‘garbage risaykul sɛnta’ insay di sɛl. di men wok we i de du na fכ brok, daygεst, εn risaykul tin dεm we di sεl nכ nid, lεk protin, kabohaydret, εn ol pat dεm na di sεl.

fכ du dis imכtant wok, di layzosom gεt spεshal grup fכ εp. Wi kin kɔl dɛn ‘ɛnzaym’. Dis na spɛshal kayn prɔtin dɛn. Lɛk siza, dɛn ɛnzaym ya kin ɛp fɔ brok ɛn brok big tin dɛn.

Naw tink bɔt am, wetin go apin if fɔ sɔm rizin dɛn nɔ mek wan pan dɛn ɛnzaym dɛn ya fayn fayn wan na wi bɔdi? Dɔn di wok we da ‘risaykul sɛnta’ de du nɔ de wok fayn. dεn tin dεm we nid fכ brok dכn εn digεst, dat na tin dεm lεk protin εn fεt, kin bigin fכ kכlכm insay di sεl dεm. Lɛk usay dɛn kin trowe dɔti. As tɛm de go, dɛn tin ya we kin gɛda kin bi pɔyzin to di sɛl dɛn, dɛn kin bigin fɔ pwɛl di sɛl dɛn, ɛn tru dat, dɛn kin pwɛl difrɛn pat dɛn na wi bɔdi. Dat na di kɔndishɔn we wi kɔl laysosomal stɔrɔj ​​disɔda.

Wetin na di men kayn sik wae de kam pan dis grup wae de sik?

Bɔrku kayn sik de ɔnda dis kayn sik. εvri wan pan dεm de kכz fכ wan patikyula εnzym we nכ de. Lɛ wi luk sɔm pan di kayn dɛn we pipul dɛn kin gɛt. Pan ɔl we i kin tan lɛk se di nem dɛn fɔ dɛn tin ya kin kɔnfyus smɔl, i izi fɔ ɔndastand wans yu dɔn no wetin dɛn bi.

Wetin mek dɛn sik ya kin apin?

Bɔku pan dɛn sik ya na sik dɛn we pɔsin kin gɛt we i kam pan jɛnɛtiks. Dat min se, dɛn kin gɛt frɔm mama ɛn papa to pikin dɛn. Dis na aw i kin apin.

Imajin se di mama ɛn papa dɛn ɔl tu gɛt ‘wik kɔpi’ fɔ di jin we de mek wan patikyula ɛnzaym. Bɔt dɛn nɔ de sho di sayn bikɔs dɛn gɛt ‘hɛlth kɔpi’ bak fɔ da jin de. Wi de kɔl dɛn pipul ya ‘carriers’.

Bɔt if pikin gɛt dis wik kɔpi fɔ di jin frɔm di mama ɛn papa, dat min se di pikin in bɔdi nɔ go mek di ɛnzaym we gɛt fɔ du wit am. na da tεm de di pikin go divεlכp di rilevεnt lysosomal stכrej sik.

Dɛn sik ya na sik dɛn we nɔ kin apin so ɔltɛm. Bɔt sɔm sik dɛn kin bɔku pan sɔm etnik grup dɛn. Fɔ ɛgzampul, di sik dɛn we dɛn kɔl Gaucher ɛn Tay-Sachs kin bɔku pan pipul dɛn we kɔmɔt na Yurop.

Wetin na di sayn dɛm we de sho se yu gɛt dis sik?

di simptom dεm dipכnt pan us εnzym we nכ de, εn dat mek dεn de stכr di כgan dεm na di bכdi di tin dεm we dεn nכ want. So, de sayn dɛm fɔ ɛni sik kin difrɛn.

• Di sayn dɛm fɔ Fabry sik na inflamɛns, pen, swɛt, rɛd spat na di skin, swet nɔ de swet, ɛn yu nɔ de yɛri na di an ɛn fut dɛm.
• Gaucher sik kin mek yu splin ɛn liva big, i kin izi fɔ mek yu brus, yu bon kin pen, yu taya bad bad wan, ɛn yu nɔ kin gɛt bɛtɛ blɔd (blɔd nɔ kin bɔku).
• Pompe sik kin mek yu gɛt sɔm sayn dɛm lɛk we di mɔsul dɛn kin wik bad bad wan, i nɔ kin izi fɔ blo, di pikin dɛn nɔ kin gro fayn, ɛn di at kin big.
• di pikin dεm we gεt Tay-Sachs sik kin divεlכp fayn fכ di fכs mכnt dεm, bכt leta dεn kin lכs di mכsul dεm kכntrol. Dɛn kin lɔs dɛn yay ɛn yɛri, ɛn dɛn kin gɛt sik we dɛn kɔl seiz.

Aw yu go no if yu gɛt dɛn sik ya?

Fɔ no dɛn sik ya na tin we nɔ izi fɔ du, bɔt fɔ no am kwik kwik wan rili impɔtant.

1. Carrier Screening: Dipen pan yu famili histri, yu dɔktɔ kin se yu fɔ tɛst yu jɛnɛtiks bifo yu mared ɔ we yu gɛt bɛlɛ. Dis kin ɛp fɔ no if yu ɔ yu patna gɛt dɛn sik ya.

2. Tεst dεm we uman bεlε: If dεn si wan abnכmal tin we dεn de du כltra saund skan we uman bεlε, di dכkta kin se fכ tεst di pikin.

• Amniocentesis: dεn de tεst di jεnεtik bay we dεn tek sכm sכm sεmpl fכ di amniotic fluid we de rawnd di mama in bεlε.
• Chorionic Villus Sampling (CVS): dεn tek sכm sכm sεmpl sεl dεm frכm di plasεnta εn tεst dεm.

3. If pikin gɛt di sik: Dɛn kin tɛst di pikin in blɔd fɔ chɛk di ɛnzaym lɛvɛl. Apat frɔm dat, dɛn kin du ɔda tɛst dɛn lɛk MRI skan, bayɔpsi, ɔ urine tɛst.

Wetin na di tritmɛnt dɛm fɔ dis?

Nɔr mɛrɛsin nɔr de fɔ dɛn sik ya yet. Bɔt sɔm tritmɛnt dɛn de we kin kɔntrol di sik dɛn ɛn mek pipul dɛn liv lɔng ɛn gɛt mɔ layf.

• Enzyme Replacement Therapy (ERT): dis involv fכ gi di bכdi in dεficient enzym dairekt insay di bכdi tru wan vein (IV).
• Substrate Reduction Therapy (SRT): Dis involv fɔ gi mɛrɛsin dɛn we de ridyus di prodakshɔn fɔ tin dɛn we dɛn nɔ want we kin gɛda insay di sɛl dɛn.
• Stem Sεl Transplant:Dɛn kin transplant di stem sɛl dɛn we dɛn tek frɔm pɔsin we gɛt wɛlbɔdi insay di pɔsin, ɛn dis kin ɛp di bɔdi fɔ mek di ɛnzaym we i nid.
• Manejmɛnt fɔ di simptom dɛm: Dɛn kin kɔntrol di simptom dɛm wit tritmɛnt dɛm lɛk pen mɛrɛsin, fizik tritmɛnt, ɔpreshɔn, ɛn sɔm tɛm, dayalaysis.

Apat frɔm dat, dɛn de du risach bɔt di mɔdan tritmɛnt dɛn lɛk jin tɛrapi, we kin gi wan sɔlv we go de sote go tumara bambay.

Lɛ wi lan bɔt aw fɔ liv wit dɛn sik ya.

Dis na sik wae de kam wae yu de liv yu layf, so along wit di tritmɛnt, i rili impɔtant fɔ mek yu chenj di we aw yu de liv yu layf.

• Gud it: Tɔk to yu dɔktɔ ɛn pɔsin we sabi bɔt it fɔ mek yu gɛt balans it we go fayn fɔ yu.
• Ridyus yu risk: Dɛn sik ya kin mek yu gɛt ɔda sik dɛn. Fɔ ɛgzampul, i rili impɔtant fɔ mek pɔsin we gɛt Fabry sik kɔntrol in kɔlɔstrel lɛvɛl.
• Stay aktif: Aks yu dɔktɔ bɔt sef ɛksesaiz dɛn we fayn fɔ yu bɔdi.
• Mental hεlth: Fɔ liv wit sik wae de kam fɔ lɔng tɛm lɛk dis kin tranga yu maynd. Aks ɛp frɔm pɔsin we de stɔdi bɔt pɔsin in maynd ɔ pɔsin we de gi advays. Dɔn bak, fɔ jɔyn sɔpɔt grup wit pipul dɛn we gɛt di sem sik kin ɛp yu bad bad wan.