Yu smɔl pikin gɛt dɛn strenj sayn ya? Lɛ wi tɔk bɔt di sik we dɛn kɔl Hurler Syndrome.

Yu fɔ de wɔri ɔltɛm bɔt aw yu smɔl pikin de gro ɛn aw i de biev, nɔto so? Sɔmtɛm, e nɔrmal fɔ fil smɔl frayd wae tin nɔr de go lɛk aw yu bin de ɛkspɛkt. Tide wi go tɔk bɔt wan rare bɔt rili impɔtant kɔndishɔn fɔ no bɔt. Dɛn kɔl am Hurler Syndrome. Sɔntɛm yu nɔ bin dɔn yɛri bɔt dis nem bifo. Bɔt i fayn fɔ mek yu no bɔt am, mɔ if pɔsin na yu famili dɔn gɛt dis sik.

Wetin na di sik we dɛn kɔl Hurler Syndrome? Lɛ wi ɔndastand am simpul wan!

Okay, so lɛ wi fɔs luk wetin na Hurler Syndrome. Fɔ tɔk am simpul wan, na wan sik we nɔ kin apin we pɔsin kin gɛt we i kam pan jɛnɛtiks. Dɛn kin tek am se na di kayn we we kin rili bad fɔ wan grup we gɛt sik dɛn we dɛn kɔl Mucopolysaccharidosis type 1 (MPS 1). sכm pan di komplεks shuga dεm na wi bכdi, spεshal wan glycosaminoglycans (we dεn bin de kכl mכcopolysaccharides), nid spεshal εnzym fכ brok dεm εn pul dεm na di bכdi. Pɔsin wae gɛt Hurler Syndrome nɔr de prodyuz dis enzym, ɔr de prodyuz am smɔl.

Imajin, wetin go apin if di pɔsin we de gɛda dɔti na wi os nɔ de wok fayn? Di dɔti kin bɔku, nɔto so? Na so i bi. we dis εnzym nכ de, dεn shuga dεm de kכmכt na di pat dεm na di bכdi we dεn kכl `(lysosomes)` insay di sεl dεm. dis `(laysosom)` dεm lεk sכm sכm 'klin sεntr' dεm na wi sεl dεm. Dɔn, dɛn shuga dɛn de kin gɛda insay dɛn shuga ya, ɛn dɛn kin ful-ɔp lɛk bɔku bɔku dɔti. dis dεn kכl am bak `(laysosomal stכrej kכndishכn)`. We dis kin apin, di sɛl dɛn nɔ kin ebul fɔ wok fayn, ɛn sɔntɛnde di sɛl dɛn kin day. Dis na wae mek de sayn dɛm fɔ Hurler syndrome de sho.

Dis sik kin mek di bon ɛn jɔyn dɛn nɔ kin wok fayn, di fes kin difrɛn, i kin mek i gɛt prɔblɛm wit in maynd, i kin mek i gɛt at sik, i kin gɛt prɔblɛm wit in lɔng, ɛn i kin mek di liva ɛn splin big . If dis apin to pikin, di sayn dɛm kin mek in layf de pan denja, ɛn i sɔri fɔ no se di layf kin shɔt.

Wetin ɔda tin de na dis kategori we dɛn kɔl MPS I?

Wi bin dɔn tɔk bifo tɛm se Hurler syndrome na di wan we rili bad pan di `(MPS I)` grup. Tu ɔda kayn dɛn de na dis `(MPS I)` grup.

• Hurler syndrome - Dis na di kayn wae de pasmak wae wi de tok bɔt.
• Hurler-Scheie syndrome - Dis na wan kayn wae wae de mɛk pɔrsin fil bad.
• Scheie syndrome - Dis na di kayn wae nɔr kin pasmak pan dis grup.

Dɛn tri kayn sik ya tan lɛk difrɛn digri fɔ di sem sik. Lɛk we milder ɛn mɔ siriɔs. di dכkta dεm kin kכl di tu tכp dεm we nכ siriכs as ``attenuated MPS I''.

Di men difrɛns bitwin dɛn kayn tin ya na di tɛm we di sik kin bigin, aw di sik kin spid, ɛn di impak we i kin gɛt pan intɛlijɛns. Insay di sik we dɛn kɔl Hurler syndrome, bɔku tɛm di sayn dɛn kin apin jɔs afta dɛn bɔn am.I gɛt bak big impak pan intɛlektual divɛlɔpmɛnt. Insay ɔda kayn `(attenuated MPS I)`, di sayn dɛm nɔ kin apin te i ol lɛk siks ɔ sɛvin ia. Dɔn bak, di impak pan intɛlijɛns nɔr kin tranga lɛk aw i kin gɛt Hurler syndrome. So, pipul dεm wae gεt `(attenuated MPS I)` kin liv nכmal layf span.

Udat kin gɛt di sik we dɛn kɔl Hurler Syndrome?

Dis na wan jenɛtik muteshɔn we kin afɛkt ɛni pikin. Bɔt if sɔmbɔdi na yu famili dɔn gɛt Mucopolysaccharidosis type I, yu pikin kin gɛt dis sik smɔl. Dis nɔto sɔntin we di mama bin de du we i gɛt bɛlɛ.

Aw kɔmɔn tin dis kin apin?

Hurler Syndrome na wan sik wae nɔr kin bɔrku. Dɛn se i kin afɛkt lɛk wan pan ɛvri 100,000 pikin dɛn we dɛn jɔs bɔn. Man ɛn uman ɔl tu kin gɛt am ikwal wan. Di kayn we we nɔ kin rili bad fɔ MPS I, we wi bin dɔn tɔk bɔt, kin afɛkt lɛk wan pan ɛvri 500,000 pikin dɛn we dɛn jɔs bɔn.

Aw di Hurler Syndrome kin afɛkt pikin in bɔdi?

Dis kכndyushכn kin afekt bכku pat dεm na di pikin in bכdi we de gro. Sɔm pan de sik wae kin kam pan pɔrsin in bɔdi kin gɛt fɔ du wit dis sik. Fɔ ɛgzampul:

• Di ed big pas aw i kin bi.
• Klɔd yay na we di wayt pat pan di yay (kɔnia) we de rawnd di blak ring na di yay de sho se i gɛt klawd.
• Spɛshal tin dɛn we de apin na di fes: tin dɛn lɛk we di yay dɛn de fa, di fɔɛd we de big, di brij we de na di nos we flat, ɛn di lip dɛn we big.
• i kin afekt bak di we aw di bon dεm de divεlכp, we kin mek di pikin in ayt dכn (di brith sכt).

Apat frɔm dɛn sayn ya we de na do, i kin afɛkt di insay pat dɛn na di bɔdi bak. Ɛspɛshali di at ɛn di lɔng dɛn. Bikɔs ɔf dis, di pikin kin gɛt infεkshɔn na in yes ɔltɛm, infεkshɔn na di sayn, ɛn infεkshɔn na in lכng. Sɔntɛnde, dɛn kin nid mashin fɔ ɛp pɔsin fɔ blo, ɛn dɛn kin nid fɔ du ɔpreshɔn fɔ mek di ɔgan dɛn we dɔn pwɛl.

Di sayn dɛm wae de sho se yu gɛt Hurler syndrome kin mek yu layf de pan denja. Bɔt if dɛn no di sik ɛn trit am kwik, di tɛm we di pikin de liv kin lɔng.

If yu de plan fɔ gɛt bɛlɛ tumara bambay, i go fayn fɔ ɔndastand di prɔblɛm dɛn we dɛn kin gɛt we yu gɛt frɔm yu mama ɛn papa, tɔk to yu dɔktɔ, ɛn lan bɔt aw fɔ tɛst yu jɛnɛtiks.

Wetin na di sayn dɛm wae de sho se yu gɛt Hurler Syndrome?

De sayn dɛm fɔ dis sik kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin, ɛn kin difrɛn pan aw i kin tranga. Bɔrku tɛm, di sayn dɛm kin bigin we dɛn smɔl. Wan pan di men tin dεm we de mek dis difrεnt frכm כda kayn MPS I na dat i de sho se i de dilay pan intellektual divεlכpmεnt ali na layf εn sכmtεm i de dכn di lanin εn mεmכri abiliti as tεm.insay di mכl fכm dεm fכ MPS I, intεlijεns nכ kin afekt bכku bכku wan.

Na sɔm ɔda sayn dɛm wae de sho se yu gɛt Hurler syndrome:

• Di at valv prɔblɛm, di at mɔsul we wik (cardiomyopathy) .
• Yu nɔ de yɛri ɔ yu nɔ de yɛri igen
• di akyumyuleshכn fכ di sεribrospεnal fכluid rawnd di bren (haydrosefalus) .
• di כgan dεm εn di kכnektiv tisu dεm lεk di liva, di splin, di tכnsil dεm, εn di mכsul dεm we de big
• Prɔblɛm fɔ si, fɔ ɛgzampul, di prɛshɔn na di yay we de go ɔp (glaukoma) .
• Jɔyn prɔblɛm (jɔyn stiffness, carpal tunnel syndrome, joyn sik) .
• Infεkshכn dεm we yu kin gεt bכku tεm we yu de blo, we yu de slip, i nɔ kin izi fɔ blo
• Ɛnia (bulges na di bɛlɛ ɔ di groin) .

Di tin dɛn we pɔsin kin si na do

Insay yu pikin in fɔs ia, yu kin bigin fɔ si dɛn sayn ya we de na do:

• Short ayt
• Dysostosis ( we di bon dɛn nɔ de alaynɛd ​​fayn fayn wan ) .
• wan fכd kכva fכ di כp bak (lεk hכnch bak) (thoracic-lumbar kyphosis) .
• Di ia we de gro pasmak na di bɔdi, mɔ na di fes ɛn bak

Wetin na di rizin fɔ dis?

di men kכz fכ Hurler sεndrכm na wan mכtεshכn na di jin we dεn kכl `IDUA`. dis `IDUA` jin na di wan we de gi instrכkshכn fכ mek di `(lysosomal enzymes)` we wi bin tכk bכt bifo. mεmba se dis εnzym de brok dכn di west prodakt dεm (dεn shuga dεm) insay di sεl dεm. afta dat, we dis `IDUA` jin nכ de wok fayn, dat εnzym nכ de prodyuz insay inof kwantiti. Dis kin mek da dɔti de gɛda insay di sɛl dɛn, ɛn di sɛl dɛn kin day ɔ dɛn nɔ kin wok fayn. Dis na wae mek de sayn dɛm fɔ Hurler syndrome de sho.

Aw dis kin kɔmɔt frɔm jɛnɛreshɔn to jɛnɛreshɔn?

Dis na tin we pɔsin kin gɛt frɔm in mama ɛn papa, we min se i kin pas frɔm mama ɔ papa to pikin. i de inhεrit insay wan כtosom rεsεsiv we. Fɔ tɔk am simpul wan, fɔ mek di pikin gɛt dis kɔndishɔn, di pikin fɔ gɛt di bad bad `IDUA` jin frɔm di mama ɛn papa. If na wan mama ɔ papa nɔmɔ gɛt di jin we nɔ fayn, di pikin nɔ go gɛt di sik. Bɔt, da pikin de kin bi `kɛriɔ` fɔ di sik. Dis min se ivin if dɛn nɔ gɛt di sik, dɛn kin pas di jin to dɛn pikin dɛn.

Aw dɛn kin no se pɔsin gɛt Hurler Syndrome?

bכt bכku tεst dεm de we kin no dis kכndyushכn bifo dεn bכn di pikin. Dɛn kɔl dɛn tin ya prɛnatal skrinin tɛst.

• Amniocentesis: dis involv fכ tek sכm sכm sεmpl fכ di amniotic fluid we de rawnd di pikin εn tεst am.
• di chorionic villus sampling: dis involv fכ tek sכm sכm tisu frכm di plasεnta εn tεst am.

dεn tu tεst dεm ya kin chεk fכ di jεnεtik abnכmaliti dεm na di pikin in DNA.

Afta di pikin dɔn bɔn, di dɔktɔ go chɛk di pikin, luk di sayn dɛm, ɛn du ɛnzaym aktiviti assay fɔ kɔnfirm di sik. Dɛn go aks bak if ɛnibɔdi na di famili dɔn gɛt dis sik (mucopolysaccharidosis), bikɔs i kin kɔmɔt frɔm am.

Sɔntɛnde, dɛn kin du ɔda tɛst fɔ no if pɔsin gɛt di sik. Fɔ ɛgzampul:

• Wan X-ray fɔ luk di pikin in bon dɛn
• Wan ɛkokardiogram (at skan) .
• Blɔd ɛn urine tɛst

Wetin na di tritmɛnt fɔ dis?

Di tritmɛnt fɔ Hurler syndrome de pe atɛnshɔn mɔ fɔ mek dɛn nɔ gɛt ɛn kɔntrol di sik dɛn.

Di tu men tritmɛnt dɛm wae de naw na:

1. Enzyme Replacement Therapy (ERT): Dis involv fכ gi di bכdi wan enzym we nכ de. di εnzym dεn kכl am alfa L-iduronidase (brand nem aldurazyme). Dis kin ɛp fɔ mek di sik nɔr wɔs ɛn fɔ rivεs sɔm kɔmplikeshɔn dɛm. Dɛn kin bigin dis tritmɛnt jɔs lɛk aw dɛn dɔn no di sik. Dis na tritmɛnt fɔ ɔl yu layf we dɛn kin gi as injɛkshɔn . Di dɔktɔ go disayd aw ɔltɛm dɛn fɔ gi di injɛkshɔn, i go dipen pan aw di sik bad.

2. Hεmatopoietic Stem Cell Transplant (HSCT): Dis na j כs bon mכro transplant. Dɛn kin gi dis tritmɛnt to pikin dɛn we nɔ rich tu ia yet (sɔntɛnde dɛn kin ol pas dat, ɔnda dɔktɔ in sɔpɔtishɔn). If i tranga, i kin ɛp fɔ mek i liv lɔng, fɔ mek di sik nɔ go ɔlsay, fɔ mek i nɔ ebul fɔ tink gud wan, ɛn fɔ mek i nɔ gɛt bɔku sik dɛn na in bɔdi. dis involv fכ transplant stεm sεl dεm we de prodyuz εnzym frכm di bon mכro fכ wan hεlty dona insay di pikin.

Apat frɔm dɛn men tritmɛnt ya, ɔda tritmɛnt dɛn de fɔ kɔntrol di sik dɛn:

• Ɔpreshɔn: Dɛn kin du ɔpreshɔn fɔ mek ɔ chenj di at valv dɛn, fɔ pul di katarakt ɛn put atifishal lens (kɔnia riplesmɛnt), fɔ kɔrɛkt di bon dɛn we nɔ de gro fayn, ɛn fɔ mek di hεnia fayn.
• Difrɛn tritmɛnt tritmɛnt dɛm: Fizik tɛrapi, wok tɛrapi, tɔk tɛrapi, ɛn ɔda tin dɛm.
• If i nɔ izi fɔ yu fɔ blo, yuz divays lɛk CPAP mashin.
• If yu nɔ de yɛri fayn, yuz tin dɛn we de ɛp yu fɔ yɛri.
• Painkillers fɔ ridyus di pen we de kam bikɔs ɔf di sayn dɛm.

Ɛni prɔblɛm de we kin kam wit di tritmɛnt?

Sɔntɛnde, kɔmplikeshɔn kin apin bikɔs ɔf di anestetik we dɛn kin gi we dɛn de du ɔpreshɔn, bikɔs dɛn pikin ya kin gɛt prɔblɛm fɔ blo ɛn di jɔyn kɔntrakt kin mek i nɔ izi fɔ put IV layn.

Dɔn bak, fɔ gɛt di bɛst pan di ERT ɛn HSCT tritmɛnt dɛn, i impɔtant fɔ bigin dɛn di rayt tɛm. If yu delay di tritmɛnt, mɔ if di sayn dɛn we gɛt fɔ du wit di divɛlɔpmɛnt pan yu maynd dɔn ɔlrɛdi apia, dat kin mek di rizɔlt nɔ bɔku. So, bifo yu bigin fɔ trit yu pikin, tɔk to yu dɔktɔ bɔt di bad tin dɛn we kin apin ɔ di prɔblɛm dɛn we kin apin.

I gɛt we fɔ mek dis sik nɔ apin to di pikin?

Bɔt i sɔri fɔ no se, Hurler syndrome na wan sik we pɔsin kin gɛt we i kam pan jɛnɛtiks, so dɛn nɔ kin ebul fɔ avɔyd am. Bɔt if yu de plan fɔ bɔn pikin tumara bambay, i go fayn fɔ go to dɔktɔ fɔ advays yu bɔt yu jɛnɛtiks ɛn if nid de, yu fɔ du yu jenɛtik tɛst fɔ ɔndastand di risk we yu pikin gɛt dis jenɛtik sik.

Wetin kin apin if yu gɛt pikin we gɛt Hurler Syndrome?

Dis kin rili sɔri fɔ yɛri. Di prɔgnosis fɔ pikin dɛm wae gɛt Hurler syndrome nɔr tu gud. Bikɔs ɔf di bad bad sayn dɛm fɔ dis sik, mɔ di ifɛkt dɛm pan di at ɛn di lɔng dɛm, di avɛrej layf we pikin kin liv na lɛk 10 ia. Bɔt if dɛn no di sik kwik kwik wan ɛn bigin tritmɛnt lɛk `HSCT` (bon mɛro transplant) ɛn `ERT` (ɛnzaym tɛrapi), dɛn kin ɛkstɛnd di layf we pɔsin kin liv smɔl mɔ.

Pikin dɛm we gɛt di intamɛdiet ɔ mild fɔm fɔ MPS I kin liv te to dɛn 20 ɛn 30 ia wit tritmɛnt. Bɔku tɛm, pɔsin kin day kwik kwik wan bikɔs i nɔ kin ebul fɔ blo fayn.

Bɔt mɛmba se if di sik nɔr kin tranga ɛn bigin fɔ trit am kwik, yu kin ivin ebul fɔ liv nɔrmal layf.

Yu tink se kɔmplit mɛrɛsin de fɔ dis?

Te naw, no mɛrɛsin nɔ de fɔ mɛn di sik we dɛn kɔl Hurler syndrome. Bɔt di tritmɛnt dɛn we dɛn de gi naw kin ɛp fɔ mek pɔsin liv lɔng ɛn fɔ mek i nɔ gɛt di sik dɛn we kin mek i day.

Ustɛm yu fɔ kɛr yu pikin go to dɔktɔ?

If yu sɔspɛkt se yu pikin gɛt sɔm sayn dɛm fɔ di sik we dɛn kɔl Hurler syndrome, mɔ if i nɔ de rich di divɛlɔpmɛnt maylston dɛm lɛk aw dɛn bin de op fɔ in ej, ɔ if i tan lɛk se i nɔ izi fɔ si ɔ yɛri, go to yu pikin in dɔktɔ wantɛm wantɛm.

Sɔntin yu nɔ plan! If yu pikin gɛt prɔblɛm fɔ blo, fil lɛk se in at nɔ de bit ɔltɛm, ɔ i nɔ de tink bɔku tɛm (dɛn tin ya kin bi sayn fɔ se pɔsin gɛt kadiomayopathy), kɛr am go na di ɔspitul we de nia am wantɛm wantɛm, ɔ kɔl 1990.

Us kwɛstyɔn dɛn yu fɔ aks di dɔktɔ?

We yu kam fɔ no se yu pikin gɛt dis sik, i nɔmal fɔ gɛt bɔku kwɛstyɔn dɛn. Aks yu dɔktɔ bɔt tin dɛn lɛk:

• Wetin na di bɛst tritmɛnt fɔ mi pikin in sik fɔ mek i nɔ gɛt di sik?
• Ɛni bad bad tin dɛn de we kin apin to di tritmɛnt dɛn we yu kin advays?
• Aw ɔltɛm mi pikin fɔ gɛt ɛnzaym riplesmɛnt tɛrapi injɛkshɔn?

Wetin na di difrɛns bitwin Hurler Syndrome ɛn Hunter Syndrome?

dis tu na ``laysosomal stכrej kכndishכn dεm.`` dat min se sik dεm we west prodakt dεm de kכmכt insay sεl dεm. Bɔt sɔm smɔl tin dɛn de we difrɛn bitwin dɛn tu:

• Hurler Syndrome: Dis na di mכst siriכs fכm fכ Mucopolysaccharidosis tayp I (MPS I). insay dis, di bכdi in εnzym we dεn kכl alfa-L-iduronidase de rεdכks.
• Hunter Syndrome: Dis na wan sik wae nɔr kin bad lɛk Hurler Syndrome. i de pan di grup we dεn kכl Mucopolysaccharidosis tayp II (MPS II). insay dis, di εnzym we de na di bכdi we dεn kכl iduronate-2-sulfatase (I2S) de rεdכks.

Fɔ dɔn, tin dɛn we wi fɔ mɛmba

Fɔ no se yu gɛt Hurler Syndrome kin tranga fɔ di famili fɔ dil wit, mɔ wit di bɔku kwɛstyɔn dɛn we kin kam bɔt di pikin in layf. Insay dis tranga tɛm, i impɔtant fɔ wok tranga wan wit yu pikin in dɔktɔ dɛn ɛn fɔ no gud gud wan bɔt di sik ɛn di tritmɛnt we dɛn kin gɛt. Dɔn bak, mɛmba se nɔto yu wangren de. Aks sɔpɔt frɔm yu fambul, padi, ɛn pipul dɛn we de wok fɔ yu wɛlbɔdi biznɛs we go ebul fɔ kɔrej yu. If yu no di sik kwik kwik wan ɛn gi yu di rayt tritmɛnt, dat go ɛp yu fɔ liv di bɛst layf.

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