Yu dɔn notis ɛnitin we de mek yu pikin nɔ gro fayn ɔ we i de biev we nɔ kɔmɔn dis biɛn tɛm? Sɔntɛnde wi kin tink bɔt dɛn tin ya as nɔmal tin we kin apin to pikin dɛn we dɛn de gro, bɔt dɛn kin bi fɔs sayn fɔ wan sik we nɔ kin apin so ɔltɛm we dɛn kɔl Sanfilippo Syndrome. Nɔ mek yu fred di nem. Na wan kɔndishɔn we nɔ kin apin so ɔltɛm. Bɔt i impɔtant fɔ mek mama ɛn papa dɛn no bɔt am. So, lɛ wi tɔk bɔt am klia wan ɛn simpul wan.
Wetin rili na Sanfilippo Syndrome?
Fɔ tɔk am simpul wan, dis na sik we nɔ kin apin so ɔltɛm we kin afɛkt di we aw pikin de wok fayn ɛn di we aw in bren de gro. Dɛn kin kɔl am bak mucopolysaccharidosis tayp III.
Tink bɔt wi bɔdi lɛk big faktri. Fɔ mek dis faktri wok fayn, sɔm tin dɛn nid fɔ brok, brok, klin, ɛn pul sɔm tin dɛn. Dɛn kɔl di smɔl smɔl wokman dɛn we de ɛp fɔ du dis wok ɛnzaym . Pikin we gɛt Sanfilippo syndrome nɔ gɛt wan pan dɛn impɔtant ɛnzaym ya.
if dis εnzym nכ de, wan shuga mכlikul we de na di nכmal we dεn kכ l hεparan sכlfεt nכ de brok dכn fayn fayn wan εn kכmכt na di bכdi. Bifo dat, i kin bigin fɔ gɛda insay di bɔdi in sɛl dɛn. I tan lɛk di dɔti we de na faktri we nɔ de klin. dis mεtirial we dεn gεt de stכr insay kכmכt dεm insay sεl dεm we dεn k כl laysosom . Na dat mek dɛn kin kɔl dis sik bak lysosomal storage disease .
We dis dɔti bɔku, di sɛl dɛn nɔ kin ebul fɔ wok fayn. As tɛm de go, dis kin pwɛl di ɔgan dɛn, mek di bɔdi nɔ gro fayn, i kin mek i gɛt prɔblɛm wit di we aw pɔsin de biev, ɛn i kin pwɛl di nervɔs sistɛm bad bad wan.
Dis sik nɔ kin bɔku. I kin afɛkt lɛk wan pan ɛvri 70,000 pikin dɛn we dɛn bɔn. Di avrej layf we pikin dɛn we gɛt dis sik kin liv na bitwin 10 ɛn 20 ia. Bɔt if pɔsin na di famili dɔn gɛt dis sik bifo, di risk fɔ mek di pikin gɛt dis sik kin bɔku.
Yu tink se difrɛn kayn dis sik de?
Yɛs, 4 men kayn dis sik de. fכ kayn εnzym dεm de we de εp fכ brok di hεparan sכlfet we wi bin tכk bכt. So, dɛn kin no di kayn sik bay uswan pan dɛn 4 kayn ɛnzaym ya we nɔ de . Sɔm kayn dɛn kin nɔr kin tranga pas ɔda wan dɛm.
| Di kayn sik we pɔsin kin gɛt | Speshal pɔynt dɛn | Avrej layf we pɔsin kin liv |
|---|---|---|
| Tayp A | Di kayn we we kɔmɔn ɛn we kin rili bad. Di sayn dɛm kin apin kwik kwik wan. Di pikin nɔ kin ebul fɔ waka ɛn tɔk kwik kwik wan. | Na lɛk 15 ia so. |
| Tayp B | I nɔ kin siriɔs smɔl pas di kayn A. Di sik kin kam smɔl smɔl. | I ol lɛk 19 ia so. |
| Tayp C | Wan kayn we we rili rare. Di sayn dɛm kin kam smɔl smɔl. Di tin dɛn we pɔsin kin ebul fɔ du lɛk fɔ waka ɛn tɔk kin las fɔ lɔng tɛm. | I ol lɛk 23 ia so. |
| Tayp D | Di kayn we we nɔ bɔku pas ɔl. Di sayn dɛm kin kam kwik kwik wan. Na smɔl data stil de bɔt dis. | I nɔ pɔsibul fɔ tɔk fɔ tru. |
Impɔtant: Dɛn layf we pɔsin kin liv na avrej valyu nɔmɔ. Ɔl pikin difrɛn. So, dεn kin difrεn dipכnt pan di wan wan pikin in situeshכn.
Wetin na di sayn dɛm fɔ dis sik?
di fכs sik kin bigin fכ sho bitwin we dεn bכn am εn we i ol 2 ia. Bɔt sɔm tɛm dɛn mama ɛn papa nɔ kin no dɛn, ɔ ivin dɔktɔ dɛn kin mistek kɔl dɛn fɔ ɔda tin dɛn (e.g. ɔtizm).
| Tayp we gɛt kwaliti dɛn | Di sayn dɛm we dɛn kin si bɔku tɛm |
|---|---|
| Di Simptom dɛn we De Fɔs Fɔs | |
| Fɔ gro ɛn fɔ biev | Dilay fɔ tɔk ɛn ɔda divɛlɔpmɛnt maylston dɛm, bihayvya lɛk ɔtizm, hyperactivity, fɔ gɛt infɛkshɔn na yu yes ɛn sayn ɔltɛm, prɔblɛm wit slip (inshɔmnia/wek). |
| Di kwaliti dɛn we pɔsin gɛt na in bɔdi | di fes we kכs sכmtεm (di fכs εn aybכw we de kכmכt, ful lip εn nos), di bכdi ia we de gro pasmak (hirsutism), ed we big pas nכmal (macrocephaly), εn כmbilikal hεnia. |
| Ɔda | Di ɔpa respiratɔri trakt kɔnjɛshɔn we de kɔntinyu, dayarɛa we de kɔntinyu. |
| Di Simptom dɛn we kin kam let | |
| Di abiliti dɛn we dɔn go dɔŋ | I nɔ kin ebul fɔ lan, tink, ɛn du wok, ɛn i nɔ kin ebul fɔ waka, tɔk, it, ɛn yɛri as tɛm de go. |
| Di chenj dɛn we kin apin na di bɔdi | di fes fכm dεm kin kכmכt m כ r, di joyn dεm kin stif, di bren tisu dεm kin shrink (bren atrophy), i kin sכk, εn di liva כ splin kin big. |
| Biev | Prɔblɛm fɔ biev, fɔ du tin pasmak, ɛn fɔ du tin kwik kwik wan kin wɔs. |
Speshal apinans fɔ aybrɔw
Mama ɛn papa dɛn kin notis se pikin dɛn we gɛt dis sik kin chenj na dɛn fes, mɔ we dɛn de wit dɛn brɔda ɛn sista dɛn. Aybrɔw dɛn we tik ɛn big pas aw i fɔ bi.Wan spɛshal tin we dis sik gɛt na dat, sɔntɛnde dɛn tu aylash ya kin jɔyn togɛda, we kin mek dɛn tan lɛk wan aybrɔw akɔdin to di fɔrɛst. Dis tin kin bi mɔ we di pikin de gro.
Aw fɔ no di sik?
Bikɔs na sik we nɔ kin bɔku ɛn di fɔs sayn dɛm kin tan lɛk ɔda sik dɛm, bɔku tɛm dɔktɔ dɛn nɔ kin tɛst am we i bigin. Bɔt i rili impɔtant fɔ no di sik kwik kwik wan so dat di pikin go gɛt di sɔpɔt ɛn tritmɛnt we i nid.
If yu pikin gɛt dilɛy fɔ divɛlɔp, i nɔ de bɔn pikin fayn, ɛn sɔm pan di fɔs sik dɛn we wi bin tɔk bɔt, yu dɔktɔ kin rifer yu fɔ mek dɛn go tɛst yu jenɛtik ɔ mɛtabolik.
- Urine test: Di fɔs tɛst we dɛn fɔ du na urine test. if di lεvεl fכ di hεparan sכlfet na di pikin in urine go כp, na sayn fכ se Sanfilippo syndrome kin de.
- Blɔd tɛst: Dɛn kin du blɔd tɛst fɔ no if pɔsin gɛt di sik. dis de chεk fכ si if di aktiviti fכ di rilevεnt εnzym lכw.
If yu gɛt ɛnitin fɔ wɔri bɔt aw yu pikin de gro ɔ aw i de biev, nɔ ɛva fred ɛn disayd fɔ yusɛf. Di bɛst tin fɔ du na fɔ tɔk to yu dɔktɔ we de mɛn pikin dɛn bɔt dis.
Wetin na di tritmɛnt dɛn?
Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ mɛn di sik we dɛn kɔl Sanfilippo syndrome, so di men gol fɔ dɔktɔ dɛn na fɔ gi dɛn sɔpɔt kia . Dat min se fɔ kɔntrol di sik dɛn ɛn gi di pikin di bɛst kwaliti layf fɔ lɔng tɛm.
Dɛn kin yuz difrɛn tritmɛnt ɛn tritmɛnt dɛn fɔ dis:
- Speech-language therapy: Fɔ delay fɔ tɔk na wan kɔmɔn sayn. Wan spik thεrapist de εp di pikin fכ kכmכnik wit wכd dεm εn cue dεm (e.g., pikchכ kad dεm).
- Fɔ gi pikin tin fɔ it: As di sik de go bifo, i nɔ kin izi fɔ it ɛn swɛla. Wan dɔktɔ we de mɛn di pikin go mek wan we fɔ ɛp di pikin fɔ it fayn fayn wan.
- Fizik tritmɛnt: Dis tritmɛnt de ɛp di pikin fɔ waka fɔ lɔng tɛm, fɔ kɔntinyu fɔ strɔng, ɛn fɔ mek i balans. If nid de, i kin ɛp dɛn bak fɔ gɛt tin dɛn lɛk wilchia.
- Ɔkupeshɔn tɛrapi: Dis tritmɛnt de ɛp fɔ mek yu kɔntinyu fɔ gɛt fayn fayn motoka skil dɛm, lɛk fɔ drɛs ɛn ol tɔys fɔ lɔng tɛm.
Apat frɔm dat, sɔm tritmɛnt dɛn de we dɛn kin tray fɔ du na di wɔl, lɛk Enzyme Replacement Therapy (ERT) ɛn Gene Therapy.
Yu, di wan we de kia fɔ di pikin, fɔ tink bak bɔt yusɛf.
Fɔ kia fɔ pikin we gɛt dis kayn sik we nɔ kin apin so ɔltɛm na big wok. Ɛn na big sakrifays. Na nɔrmal tin fɔ mek yu fil bad, strɛs, sɔri, ɛn vɛks pan dis joyn.
Yu nɔ nid fɔ go tru dis waka yu wan. If yu gɛt di rayt sɔpɔt ɛn no bɔt yu pikin, yu go ebul fɔ kia fɔ yu pikin di bɛst we.
So, nɔ fɔgɛt fɔ tink bɔt yusɛf ɛn bak bɔt yu pikin.
- Aks fɔ ɛp frɔm pɔsin we yu biliv.
- Mek tɛm fɔ yusɛf fɔ blo smɔl.
- Tɔk bɔt aw yu de fil wit yu famili ɔ yu dɔktɔ. If nid de, go to pɔsin we de advays yu bɔt mental wɛlbɔdi biznɛs.
Mɛmba se fɔ gi yu pikin di bɛst, yu fɔs nid fɔ wɛl .
Mɛsej we dɛn kin kɛr go na os
- Sanfilippo Syndrome na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt di we aw di bɔdi de pul dɔti.
- di fכs sayn dεm na di divεlכpmεnt we de delay, di tεm we i de tכk, we i de du pasmak, εn difrεnt fכs fכs fכs fכs.
- Pan ɔl we no patikyula mɛrɛsin nɔ de fɔ dis sik, difrɛn we dɛn fɔ trit di pikin kin kɔntrol di sayn dɛn ɛn mek di pikin gɛt gud kwaliti layf.
- If yu gɛt ɛni dawt bɔt aw yu pikin de gro, go to yu dɔktɔ we de mɛn pikin dɛn wantɛm wantɛm fɔ advays.
- Bikɔs i nɔ izi fɔ kia fɔ pikin lɛk dis, i rili impɔtant fɔ mek yu as mama ɔ papa tek kia ɔf yu yon bɔdi ɛn maynd wɛlbɔdi bak.
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