Yu pikin gɛt dɛn sik ya? I kin bi wan sik we dɛn kɔl Hunter Syndrome!

Yu dɔn notis se yu smɔl pikin de delay, ɔ ɛni chenj na dɛn apia ɔ jɔyn dɛn dis biɛn tɛm? Sɔntɛnde, wetin de biɛn dɛn tin ya kin bi wan rare kɔndishɔn wae wi nɔr dɔn yɛri bɔrku bɔt. Tide wi go tɔk bɔt wan jenɛtik kɔndishɔn we dɛn kɔl Hunter Syndrome. Nɔ fred we yu yɛri dis, bikɔs di tin we impɔtant pas ɔl na fɔ no bɔt am.

Wetin na Hunter Syndrome? Lɛ wi ɔndastand am rili simpul wan!

Fɔ tɔk am simpul wan, Hunter Syndrome na wan sik wae nɔr kin bɔrku pan jɛnɛtiks. dis na kכndishכn we sכm kכmpleks shuga mכlikul dεm na yu pikin in bכdi (dεn kכl am ``Glycosaminoglycans'' כ ``GAGs'') nכ de brok dכn fayn fayn wan εn dεn dεgεst. jכs lεk aw dכti na wi os de kכmכt if wi nכ trowe am fayn, dεn shuga mכlikul dεm ya de kכmכt insay di bכdi in sεl dεm, spεshal wan na pat dεm we dεn kכl ``Lysosomes''. As tεm de go, dis akyumuleshכn de bigin fכ pwεl difrεn כgan dεm εn tisu dεm na di bכdi. Dis damej kin afɛkt di pikin in bɔdi ɛn maynd divɛlɔpmɛnt.

Dɔktɔ dɛn kin sheb di Hunter Syndrome to tu men kayn:

1. Sivεri tεyp: Dis na mכr siriכs tεyp wae de go bifo kwik kwik wan. If na so i bi, di pikin in sɛns kin afɛkt bak. Bɔku tɛm, bitwin 6 ɛn 8 ia, di pikin kin bigin fɔ gɛt prɔblɛm fɔ du di men wok dɛn we i kin du ɛvride. Na lɛk 60% pan di pipul dɛm wae gɛt Hunter Syndrome gɛt dis kayn siriɔs sik.

2. Mild type: Di sik kin kam smɔl smɔl. Sɔntɛm dɛn nɔ go afɛkt di tin dɛn we pɔsin kin ebul fɔ tink bɔt bad bad wan.

Hunter Syndrome de pan wan big grup pan sik dεm we dεn kכl ``Mucopolysaccharidoses.`` So, dεn kכl am bak ``Mucopolysaccharidosis type II`` כ ``MPS II``.

Aw kɔmɔn tin na Hunter Syndrome?

Dis na rili wan sik we nɔ kin apin so ɔltɛm. Dɔn bak, i kin afɛkt bɔy pikin dɛn mɔ. Fɔ sho se na lɛk wan pan ɛvri 100,000 to 170,000 bɔy pikin dɛn nɔmɔ dis sik kin gɛt. Bɔt gyal pikin dɛn kin bi pipul dɛn we gɛt di jin we de mek pɔsin gɛt dis sik. Dis min se ivin if dεn nכ gεt di sik, dεn kin pas di jin to dεn pikin dεm.

Wetin na di sayn dɛm fɔ pikin we gɛt Hunter Syndrome?

Dɛn sik ya kin bigin fɔ sho pan pikin we ol bitwin 2 ɛn 4. Di sayn dɛn kin difrɛn frɔm wan pɔsin to ɔda pɔsin, ɛn dɛn kin difrɛn bak pan di kayn we aw i kin bi. Lɛ wi luk di men sayn dɛm wae yu kin si:

• di joyn stiffness, difεlεnt fכ bεnd: I kin fil lεk se di joyn dεm "stכk".
• Di fes tik: Di say dɛn lɛk di nos, di lip, ɛn di tɔŋ kin tik ɛn i kin tan lɛk se i rɔf smɔl.
• Fɔ mek yu tit let ɔ fɔ gɛt big gap bitwin di tit.
• Di ed big pas aw i fɔ bi, di chɛst wayd, ɛn di nɛk shɔt.
• Yu nɔ de yɛri fayn (we yu nɔ de yɛri fayn) we de go ɔp smɔl smɔl as tɛm de go.
• I nɔ de gro fayn: Di ayt kin slo, mɔ afta i dɔn ol 5 ia.
• Di splin ɛn liva we dɔn big.
• Aw wayt bɔmp dɛn de sho na di skin.

I bɛtɛ fɔ lɛ yu nɔ fred if yu si wan ɔ tu pan dɛn sik ya, bɔt if yu pikin kɔntinyu fɔ gɛt pas wan pan dɛn sayn ya, i go fayn fɔ mek yu go to dɔktɔ.

Wetin mek di Hunter Syndrome kin apin? Wetin na di kɔz?

di men rizin fכ dis na di jεnεtik mכtεshכn na di `IDS` jin. dis `IDS` jin de kכntro di prodyushכn fכ wan εnzym we dεn kכl `(Iduronate 2-sulfatase)` כ `(I2S)` insay wi bכdi. di wok we dis `(I2S)` εnzym de du na fכ brok dכn di kכmpleks shuga mכlikul dεm we dεn kכl `(Glycosaminoglycans)` כ `(GAGs)` we wi bin tכk bכt bifo.

so, insay pכsin we gεt Hunter syndrome `(MPS II)`, dis `(I2S)` εnzym nכ de prodyuz na di bכdi, כ i de prodyuz insay rili sכm. biכs dis εnzym nכ de, dεn `(GAGs)` shuga mכlikul dεm de kכmכt insay pat dεm we dεn kכl `(Lysosomes)` insay di sεl dεm. `(Lysosomes)` na ples dεm insay di sεl dεm we de brok dכn εn risaykul mכlikul dεm we nכ nid. biכs `(GAGs)` de akumulet dis we, `(MPS II)` sik de pan di grup fכ sik dεm we dεn kכl `(Lysosomal storage disorder)`. Na bikɔs ɔf dɛn tin ya we kin gɛda, difrɛn ɔgan ɛn tisu dɛn na di bɔdi kin pwɛl.

Udat de pan big risk fɔ gɛt dis?

If pɔrsin na di famili, dat na pɔrsin wae gɛt dis sik, dat kin mek ɔda pipul dɛn gɛt dis sik.

As wi bin dɔn tɔk, bɔy pikin dɛn kin gɛt dis sik mɔ. Dis na bikɔs di sik gɛt fɔ du wit di X kromozom. Yu no se gyal pikin kin gɛt tu X kromozom, bɔy pikin kin gɛt wan X kromozom ɛn wan Y kromozom. so, ivin if gyal pikin gεt di X kromozom wit dis difεktiv jin, di כda hεlty X kromozom kin gi di εnzym we i nid. So dɛn nɔr kin sho sɔm kayn sik ɛn dɛn kin bi pɔrsin wae gɛt dis sik. Bɔt if bɔy pikin gɛt di X kromozom wit da jin we nɔ fayn, i go gɛt di sik bikɔs i nɔ gɛt ɔda X kromozom.

Wetin na de prɔblɛm wae kin kam wit Hunter Syndrome?

Dipen pan aw dis sik kin tranga, difrɛn kɔmplikɛshɔn kin apin. Dɔktɔ dɛn kin yuz mɛrɛsin ɛn sɔntɛnde dɛn kin ivin du ɔpreshɔn fɔ kɔntrol dɛn prɔblɛm dɛn ya. Lɛ wi si wetin na dɛn prɔblɛm ya:

• I nɔ izi fɔ blo: I nɔ kin izi fɔ blo bikɔs di tisu dɛn kin tik ɛn di say dɛn we di briz kin blo kin blo.
• Hat sik (`(Hat sik)`).
• Abnɔmal tin dɛn na di jɔyn ɛn bon dɛn.
• Smɔl smɔl di we aw di bren de wok.
• Karpal tanɛl sindrom (`(Kapal tanɛl sindrom)`): Na wan kכndyushכn we de kכz fכ kכmprεshכn na di nεv dεm na di an εria.
• Ɛnia (`(Hɛnia)`).
• Kכndishכn dεm lεk εpilepshכn (`(Seizures)`).
• Prɔblɛm dɛn we gɛt fɔ du wit di we aw pɔsin de biev.

Dɛn kɔmplikeshɔn ya nɔ kin apin di sem we fɔ ɔlman. Dɛn kin difrɛn difrɛn wan fɔ di pikin in kɔndishɔn. So, i impɔtant fɔ tɔk to di dɔktɔ ɔltɛm ɛn no bɔt di pikin in sik.

Aw yu go no if yu gɛt Hunter Syndrome?

Yu pikin in dɔktɔ go du bɔku tɛst fɔ no if i gɛt dis sik.

• urine test: dis de chεk fכ abnכmal hכy lεvεl dεm fכ di shuga mכlekyul dεm na di urine (dεn kכl am GAG dεm).
• bכdi tεst: dis kin no if di aktvכti fכ di εnzym `(I2S)` na di bכdi lכs כ nכ de. Dis na wan impɔtant sayn bak fɔ dis sik.
• jεnεtik tεst: Dis na wetin de sho if mכtεshכn de insay di spεsifi k IDS jin.

Wetin na di tritmɛnt dɛm fɔ Hunter Syndrome?

Dɛn kin trit Hunter Syndrome akɔdin to di pikin in sayn dɛm. Dis nid fɔ gɛt sɔpɔt frɔm wan tim we gɛt spɛshal pipul dɛn. Pipul dɛn we sabi difrɛn tin dɛn kin wok togɛda fɔ kɔntrol di pikin in kɔndishɔn. Di men gol dɛm fɔ tritmɛnt na fɔ slo di sik fɔ go bifo, fɔ no ɛn trit di prɔblɛm dɛm we kin kam bikɔs ɔf di sik kwik kwik wan, ɛn fɔ mek di pikin in kwaliti layf bɛtɛ.

di bεst tritmεnt we de naw fכ rich dεn gol ya na εnzym riplesmεnt tεrapi (`(Enzyme riplesmεnt tεrapi)`). insay dis, di `(I2S)` enzym we de mis de riples am wit wan enzym we man mek (`(Idursulfase (Elaprase®))`). Dɛn kin gi dis tritmɛnt insay di bɛlɛ wan tɛm insay di wik.

Apat frɔm dat, dɛn de du risach naw bɔt jin tɛrapi (ɔ jin ɛditin). Dis kin briŋ big op to di wan dɛn we gɛt Hunter Syndrome tumara bambay. Bɔt dɛn stil de wet fɔ di tin dɛn we go apin.

Yu tink se we de fɔ mek dis nɔ apin?

Bikɔs dis na jɛnɛtik kɔndishɔn, i sɔri fɔ no se dɛn nɔ go ebul fɔ avɔyd am. Bɔt i rili impɔtant fɔ mek mama ɛn papa dɛn we gɛt pikin we gɛt Hɔnta Sindrɔm tɔk to pɔsin we de advays dɛn bɔt dɛn jɛnɛtiks bifo dɛn bɔn ɔda pikin. Dis spɛshal dɔktɔ kin ɛp mama ɛn papa fɔ ɔndastand di prɔblɛm we kin apin we pɔsin pas di sik to ɔda pikin.

Wetin na di tumara bambay fɔ pɔrsin wae gɛt Hunter Syndrome?

Dɛn nɔ dɔn fɛn wan kɔmplit mɛrɛsin fɔ dis yet.If yu gɛt dis sik bad bad wan, dat kin mek yu layf de pan denja. Di avrej layf we dɛn kayn pikin ya kin liv na bitwin 10 ɛn 20 ia. Bɔt di wan dɛn we gɛt dis sik kin liv lɔng pasmak, te dɛn big.

Fɔ bɔrku pipul dɛm, tritmɛnt lɛk mɛrɛsin, fizik tritmɛnt, ɛn ɔpreshɔn kin ɛp fɔ kɔntrol di prɔblɛm dɛm wae de kam wit de sik ɛn fɔ mek dɛn gɛt bɛtɛ layf.

Yu tink se mi pikin go ebul fɔ wok nɔmal wan bak?

Pikin dɛm we gɛt Hunter Syndrome kin gɛt prɔblɛm wit di tin dɛm we dɛn kin du ɛvride ɛn fɔ muv as dɛn sik kin wɔs smɔl smɔl. Sɔntɛm dɛn go nid fɔ chenj sɔm tin dɛn we dɛn kin du. Yu pikin in dɔktɔ go tɔk to yu bɔt di tin dɛn we yu fɔ du ɛn di tritmɛnt dɛn we go ɛp yu fɔ bia wit di sik.

Us tɛm yu nid fɔ go to dɔktɔ?

If yu pikin bigin fɔ sho di sayn dɛm fɔ di Hunter Syndrome, ɔ if yu notis se i nɔ de gro fayn, kɔl yu pikin in dɔktɔ wantɛm wantɛm. If yu bigin tritmɛnt kwik, dat kin ɛp fɔ mek yu nɔ pwɛl di ɔgan ɛn tisu dɛn fɔ ɔltɛm.

Wetin yu fɔ aks di dɔktɔ?

Wae yu dɔn no se yu pikin gɛt Hunter Syndrome, yu kin aks di dɔktɔ kwɛstyɔn dɛn lɛk dis:

• Aw di Hunter Syndrome rili bad?
• Wetin go bi mi pikin in shɔt tɛm ɛn lɔng tɛm prɔgnosis?
• Aw dis sik go afɛkt mi pikin in layf?
• Wetin na di tritmɛnt dɛn we yu kin gɛt?

Aks dɛn kwɛstyɔn ya ɛn klin ɛni dawt we yu gɛt. Bikɔs di mɔ we yu de no mɔ, na di mɔ yu go ebul fɔ ɛp yu pikin.

Wetin na di difrɛns bitwin Hunter ɛn Hurler syndrome?

Hunter Syndrome εn Hurler Syndrome na tu sik dεm we de insay di grup fכ sik dεm we dεn kכl ``Lysosomal storage disorders'', ``Mucopolysaccharidoses''.

Hurler syndrome na di mכst siriכs fכm fכ di sik Mucopolysaccharidosis type I (MPS I). insay MPS I, di εnzym alfa-L-iduronidase de lεk. Hurler syndrome kin tranga pas Hunter syndrome.

Wan mɛsej we pɔsin kin kɛr go na os

A ɔndastand aw i kin tranga fɔ no se yu pikin gɛt wan sik lɛk Hunter Syndrome. I kin mek yu at pwɛl, mɔ we yu yɛri bɔt aw yu pikin go liv lɔng. Insay dis tranga tɛm, mɛmba se nɔto yu wangren de.

Di tin we impɔtant pas ɔl na fɔ wok wit yu pikin in dɔktɔ fɔ lan bɔku tin bɔt di sik ɛn aw fɔ trit am. Dɔn bak, rawnd pipul dɛn we go sɔpɔt yu, lɛk yu padi ɛn fambul dɛn. Di sɔpɔt ɛn kɔrej we dɛn go gɛt go rili ɛp wi fɔ gɛt trɛnk insay dis tɛm. Mɛmba se wit ɛni prɔblɛm, op de.

` Hɔnta Sindrom, Hɔnta Sindrom, MPS II, Jɛnɛtik Sik, Ɛnzaym, Pikin Sik, Simptom, Tritmɛnt