Sɔntɛnde yu kin fil se yu smɔl pikin dɔn biɛn smɔl pan di divɛlɔpmɛnt? Ɔ i tan lɛk se in fes ɛn in bɔdi shep difrɛn smɔl frɔm ɔda pikin dɛn we in ej? Sɔntɛnde, biɛn dɛn tin ya, sɔm kayn tin kin de we nɔ kin apin so ɔltɛm we wi nɔ ivin yɛri bɔt. Tide, wi de tɔk bɔt wan sik we bɔku pipul dɛn nɔ no bɔt, bɔt i rili impɔtant fɔ wi as mama ɛn papa fɔ no bɔt am. Dat na di Hɔnta Sindrom.
Fɔ tɔk am simpul wan, wetin na Hunter Syndrome?
Hunter syndrome na wan sik wae nɔr kin bɔrku, wae kin kam pan pɔrsin in jɛnɛtiks. Dis na we yu pikin in bɔdi nɔ kin ebul fɔ brok ɛn dayjɛst sɔm kɔmpleks shuga mɔlyul dɛn fayn fayn wan. Tink bɔt am lɛk smɔl wok ɔs dɛn we de insay wi bɔdi, we wi kɔl ɛnzaym. Dɛn wok na fɔ brok ɛn klin di tin dɛn we de kam insay wi bɔdi, di tin dɛn we wi nɔ nid.
di pikin we gεt Hunter syndrome de bכn wit sכm s כm εnzym we i nid fכ brok wan spεshal kayn shuga mכlekyul. So wetin kin apin da tɛm de? Dɛn shuga mɔlyul dɛn de we dɛn nɔ kin ebul fɔ brok kin bigin fɔ gɛda smɔl smɔl na di pikin in ɔgan ɛn tisu dɛn. Jɔs lɛk dɔti we dɛn nɔ pul, na so i kin gɛda. As tɛm de go, dis we aw di pikin kin gɛda kin ambɔg di pikin in bɔdi ɛn in maynd.
Dɔktɔ dɛn kin sheb dis sik to tu men pat:
1. Sivεr kayn sayn dεm: Dis na di kayn wae de mכst kכmכn (lεk 60%). Di sayn dɛm fɔ dɛn pikin ya kin go bifo kwik kwik wan, ɛn dɛn kin afɛkt di we aw dɛn kin tink bak. Bɔku tɛm, we di pikin ol 6-8 ia, i kin bigin fɔ gɛt prɔblɛm wit di bɛsis tin dɛn we i kin du.
2. Mild type: Di sayn dɛm de sho sloslo. Bɔku tɛm, di pikin in sɛns nɔ kin afɛkt bɛtɛ.
Dis sik de pan wan grup fɔ sik dɛn we dɛn kɔl mucopolysaccharidoses. Na dat mek dɛn kin kɔl di Hunter syndrome bak mucopolysaccharidosis type II (MPS II) .
Aw dis sik kin bɔku? Udat go mɔs gɛt am?
Dis na sik we nɔ kin apin so ɔltɛm . Dɔn bak, i kin afɛkt bɔy pikin dɛn mɔ . Statistikin sho se na lɛk wan pan ɛvri 100,000 to 170,000 bɔy pikin dɛn we dɛn bɔn, dɛn kin gɛt dis sik.
Bɔt gyal pikin dɛn kin gɛt di jin we nɔ fayn we kin mek pɔsin gɛt di sik. Fɔ tɔk am simpul wan, gyal pikin gɛt tu X kromozom dɛn, ɛn bɔy pikin gɛt wan nɔmɔ. So ivin if gyal pikin gɛt di X kromozom we nɔ fayn, in ɔda X kromozom we gɛt wɛlbɔdi kin mek di ɛnzaym we i nid. Bɔt if bɔbɔ gɛt di X kromozom we nɔ fayn, i nɔ gɛt ɔda tin fɔ du ɛn i kin gɛt sɔm sayn dɛn.
Wetin na di sayn dɛm fɔ dis sik?
Bɔrku tɛm, di sayn dɛm kin bigin fɔ sho pan pikin we ol bitwin 2 ɛn 4. Dɛn sayn ya kin difrɛn frɔm wan pikin to ɔda pikin. Sɔm pikin dɛn nɔ kin gɛt bɔku sayn dɛn, ɛn ɔda wan dɛn kin gɛt mɔ.
| Di sayn we de sho se di sik de | Tɔk bɔt |
|---|---|
| Di we aw bɔdi de luk | Kɔs kɔs fes (di nos, lip, ɛn tɔng we tik), ed we big pas di avɛrej, chɛst brayt, ɛn nɛk we shɔt. |
| Jɔyn ɛn bon dɛn | Stif na di joyn dεm na di limb dεm, i at fכ bεnd. |
| Gro | Dilay we i de gro. di ayt growth de stכp כ i de apin sכmtεm sכmtεm, spεshal wan afta i ol 5 ia. |
| Fɔ yɛri | Smɔl smɔl, di we aw pɔsin de yɛri kin wik. |
| Ɔgan dɛn we de insay di bɔdi | di liva εn di splin de big (di bכdi de kכmכt na di bכdi). |
| Skin ɛn tit | Aw wayt bɔmp dɛn de sho na di skin. Dilay fɔ mek yu tit ɔ big gap bitwin di tit. |
Wetin mek dis sik kin rili apin?
Dis kin bi bikɔs ɔf wan muteshon na di IDS jin . di IDS jin de kכntro di prodyushכn fכ wan εnzym we dεn kכl iduronate 2-sulfatase (I2S), we wi bכdi nid.
dis I2S εnzym de brok dכn kכmpleks shuga mכlikul dεm we dεn kכl glycosaminoglycans (GAGs). Pikin dεm we gεt Hunter syndrome (MPS II) dεn nכ de prodyuz dis I2S εnzym atכl, כ dεn de prodyuz am na sכm sכm.
dis de mek di shuga mכlikul dεm we dεn kכl GAG dεm de kכmכt insay di laysosom dεm we na di rεsayklin sεntr dεm fכ di sεl dεm. di laysosom dεm lεk di risaykul sεntr dεm fכ di sεl dεm. di sik dεm we kin apin bikoz fכ di tin dεm we de kכmכt insay di layzosom dεm dεn k כl dεm bak laysosom stכrej dizכrd . As tɛm de go, dɛn tin ya we kin gɛda kin pwɛl di bɔdi in ɔgan dɛn.
Us ɔda prɔblɛm dɛn kin apin bikɔs ɔf dis sik?
di pikin kin dipכnt pan aw di sik kin tranga, i kin gεt difrεn kכmplikεshכn dεm. Dɔktɔ dɛn kin yuz mɛrɛsin ɛn sɔntɛnde dɛn kin ivin yuz ɔpreshɔn fɔ mɛn dɛn prɔblɛm dɛn ya.
Di impɔtant tin na dat nɔto ɔl pikin dɛn go gɛt ɔl dɛn prɔblɛm ya. So nɔ wɔri. I impɔtant fɔ de kɔntakt di dɔktɔ ɔltɛm ɛn kip yu yay pan yu pikin.
| Kɔmplikɛshɔn | Tɔk bɔt |
|---|---|
| I nɔ kin izi fɔ yu fɔ blo | di tik we di aywe tisu tik i kin blok di aywe. |
| At sik | Di at valv dɛn kin pwɛl. |
| Bɔn ɛn jɔyn prɔblɛm dɛn | Difɔmiti na di bon ɛn jɔyn dɛn kin apin. |
| Di we aw di bren de wok | If di sik bad bad wan, di bren nɔ kin wok fayn. |
| Ɔda prɔblɛm dɛn | Carpal tunnel syndrome, hεnia, sεiz, εn prכblεm wit bihayvya kin apin. |
Aw fɔ no di sik?
Yu pikin in dɔktɔ go du bɔku tɛst fɔ no if i gɛt dis sik.
- Yurin tεst: Dis de chεk fכ di abnכmal hכy lεvεl dεm na di shuga mכlikul dεm (GAG) we wi bin tכk bכt fכs insay di urine.
- Blɔd tɛst: Dis kin no if di wok we di ɛnzaym we gɛt fɔ du wit di blɔd de du smɔl ɔ i nɔ de.
- Jɛnɛtik tɛst: Dɛn kin du dis tɛst fɔ no if di jɛnɛtik muteshon we de mek di sik de.
Aw dɛn kin trit am?
No mɛrɛsin nɔ de fɔ mɛn di sik we dɛn kɔl Hunter syndrome yet . Bɔt tritmɛnt dɛn de fɔ kɔntrol aw di sik de go, fɔ no di prɔblɛm dɛn kwik kwik wan, ɛn fɔ mek di pikin in layf bɛtɛ.
Di bɛst tritmɛnt fɔ dis na Enzyme Replacement Therapy (ERT) . dis involv fכ mek di εnzym we nכ de na di bכdi wit atifishal wan εn gi am to di pikin. Dɛn kɔl dis mɛrɛsin idursulfase (Elaprase®) . Dɛn kin gi dis tritmɛnt insay di bɛlɛ wan tɛm insay di wik.
Apat frɔm dat, dɛn de du risach bak bɔt jin tɛrapi ɔlsay na di wɔl, ɛn op se i go mek dɛn gɛt bɛtɛ tritmɛnt dɛn tumara bambay.
Wetin yu go se bɔt di pikin in tumara bambay?
A no se dis na kwɛstyɔn we rili at fɔ aks. If di sik bad bad wan, di pikin in layf kin shɔt. Bɔku tɛm, i kin ol bitwin 10 ɛn 20 ia. Bɔt pikin dɛn we gɛt smɔl sik kin liv te dɛn big.
Di tin we impɔtant pas ɔl na dat, tritmɛnt kin ɛp yu pikin fɔ kɔntrol di prɔblɛm dɛn we i de gɛt ɛn fɔ mek in layf bɛtɛ. So nɔ ɛva giv ɔp op.
Kwɛstyɔn dɛn we yu fɔ aks yu dɔktɔ
If dɛn no se yu gɛt dis sik na yu pikin, i nɔmal fɔ mek yu gɛt bɔku kwɛstyɔn dɛn na yu maynd. Aks yu dɔktɔ bɔt dɛn tin ya klia wan.
- Dis na wan kayn sik wae kin pasmak ɔr wae nɔr kin pasmak?
- Wetin go bi mi pikin in shɔt tɛm ɛn lɔng tɛm sityueshɔn?
- Aw dis sik go afɛkt mi pikin in layf?
- Wetin na di tritmɛnt dɛn we yu kin gɛt?
Na nɔmal tin fɔ mek famili shɔk ɛn fil bad we dɛn kam fɔ no bɔt wan sik lɛk dis. Mɛmba se nɔto yu wangren de dis tɛm. Tɔk to yu dɔktɔ, yu fambul, ɛn yu tayt padi dɛn bɔt dis. Wi ɔl nid fɔ wok togɛda fɔ gi yu pikin di bɛst kia.
Mɛsej we dɛn kin kɛr go na os
- Hunter syndrome na wan sik wae nɔr kin bɔrku, wae kin kam wit bɔy pikin dɛm.
- Dis sik kin kam bikɔs wan spɛshal ɛnzaym nɔ de na di bɔdi, we kin mek sɔm shuga mɔlyul dɛn gɛda na di bɔdi ɛn pwɛl di ɔgan dɛn.
- Di sayn dɛm kin bigin fɔ sho bitwin di ej dɛm fɔ 2-4 ia. Di men sayn dɛm na we i de te fɔ gro, in fes kin chenj, ɛn in jɔyn dɛn kin stif.
- Pan ɔl we no kɔmplit mɛrɛsin nɔ de fɔ dis, tritmɛnt dɛn lɛk ɛnzaym riplesmɛnt tɛrapi (ERT) kin kɔntrol di sik dɛn ɛn mek di pikin in layf bɛtɛ.
- If yu notis ɛni abnɔmal tin na yu pikin in divɛlɔpmɛnt, go to yu dɔktɔ wantɛm wantɛm. Fɔ no di sik kwik kwik wan rili impɔtant fɔ tritmɛnt.
💬 Comments (0)
No kɔmɛnt nɔ de yet. Ad yu kɔmɛnt ya fɔ di fɔs tɛm.
Ad yu kɔmɛnt