Yu smɔl pikin gɛt dɛn sik ya? Lɛ wi lan bɔt di sik we dɛn kɔl Sanfilippo Syndrome

Yu de notis ɛni chenj na yu smɔl pikin in bihayvya, tɔk, ɔ luk we i nɔ izi fɔ ɔndastand? Sɔntɛnde, wi nɔ kin no bɔku tin bɔt sɔm sik dɛn we kin ambɔg smɔl pikin dɛn, so wi kin bigin fɔ tink bɔt wan tin afta di ɔda wan. Tide, wi go tɔk bɔt wan kɔndishɔn we kɔmplikt smɔl, bɔt we ɔlman fɔ no bɔt. Dɛn kɔl dis sik we dɛn kɔl Sanfilippo syndrome . Nɔ wɔri, wi go tɔk bɔt am ditayli ɛn simpul wan.

Wetin na di sik we dɛn kɔl Sanfilippo Syndrome?

Fɔ tɔk am simpul wan, Sanfilippo syndrome na wan sik we pɔsin kin gɛt frɔm in mama ɛn papa . Fɔ tru, na wan grup we gɛt sik dɛn. I kin mɔs afɛkt yu pikin in sɛntral nervous system , we na di bren ɛn spɛshal kɔd. Dis kin mek di pikin gɛt difrɛn sayn dɛm na in maynd, in bihayvya, ɛn in bɔdi. Bɔt i sɔri fɔ no se dɛn sik ya kin wɔs as tɛm de go, ɛn dis sik kin mek pikin dɛn liv shɔt.

wan ɔda nem fɔ dis na mucopolysaccharidosis tayp III (MPS III) .

Tink bɔt am, insay wi sɛl dɛn, smɔl "garbage disposal centers" de. Dɛn kɔl dɛn tin ya laysosɔm . dis na dεn wan dεm we de brok dכn εn pul tin dεm we dεn nכ want, כ "garbage," we de bכlכp insay di sεl dεm. pikin we gεt Sanfilippo sεndrכm nכ gεt wan pan di fכ εnzym dεm we i nid fכ brok dכn wan kכmpleks kכbhaydret we dεn kכl heparan sulfate ( dεn kכl am bak glycosaminoglycan ). biכs dis εnzym nכ de wok fayn, di tin we dεn kכl εparan sכlfet de bכku insay di pikin in sεl dεm, in tisu dεm, εn כgan dεm. Dis bildup de mek dɛn damej. Dis na wetin wi kɔl laysosomal stɔrɔj ​​disɔda .

Sɔm kayn Sanfilippo Syndrome de?

Yɛs, 4 men kayn dis de. εvri tכp de kכz fכ difεrεnt εnzym we nכ de.

• Tayp A: Di ɛnzaym we dɛn kɔl sulfamidase nɔ de.
• Tayp B: Dεfisiεns fכ di εnzym alfa-N-asetilglukosaminidaz.
• Tayp C: Dεfisiεns fכ di εnzym hεparan asetεl CoA: alfa-glukosaminid N-asetiltransfεrayz.
• Tayp D: Dεfisiεns fכ di εnzym N-asetilglukosamin 6-sכlfatεz.

Fɔ dɛn wan ya, tayp A na di sɔbtayp we bɔku pipul dɛn kin yuz ɔlsay na di wɔl , we di tayp D na di wan we nɔ kin bɔku.

Aw dis sik kin kɔmɔn?

Sanfilippo syndrome na wan sik wae nɔr kin bɔrku.. Di wan dɛn we de stɔdi bɔt dis tɔk se dis kin afɛkt lɛk wan pan ɛvri 50,000 to 250,000 pipul dɛn. So yu kin si aw dis nɔ kin apin so ɔltɛm.

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

De sayn dɛm ɛn aw dis sik kin tranga kin difrɛn frɔm wan pikin to ɔda pikin, ɛn i kin difrɛn bak pan di kayn sik. Sɔm pan di fɔs sayn dɛm we dɛn kin si pan pikin dɛm we dɛn jɔs bɔn ɛn smɔl pikin dɛm na:

• Kɔs kɔs fes fes .
• Aylash dɛn we klia ɛn wayd.
• fכ gεt mכr pas nכmal bכdi ia (hirsutism) nכ de dכn as tεm de go.
• i big pas di nכmal ed saiz (macrocephaly).
• Slip dizayd, prɔblɛm fɔ slip.
• Prɔblɛm fɔ blo, fɔ ɛgzampul, yu yes ɛn/ɔ nos kin rɔtin, i nɔ kin izi fɔ blo.
• Sivεr bεlε pen εn kray (kolik-lεk episod dεm).
• Dayrɛa we kin kam bɔku tɛm.

Sɔntɛm yu nɔ go notis dɛn fɔs sayn ya wantɛm wantɛm. As yu pikin de ol, ɔda sayn dɛm wae gɛt fɔ du wit Sanfilippo syndrome go bigin fɔ sho. Dɛn sayn ya kin apin bitwin 1 ɛn 4 ia .

di kכntribyushכn dεm we de fכ di nεv sεstem εn di bihayvya:

• Wan delay fɔ tɔk ɛn langwej skil (bɔku tɛm na di fɔs sayn).
• di pikin in divεlכpmεnt de delay witout spεshal kכz (nכn spεsifi k divεlכpmεnt delay).
• Di tin dɛn we pɔsin kin ebul fɔ tink bɔt kin go dɔŋ as tɛm de go.
• Agresiv ɔ pwɛl hat bihayvya .
• Di we aw pɔsin kin du tin pasmak.
• Irɛspɔnsibul bihayvya, wae yu vɛks kwik kwik wan (we yu vɛks bad bad wan).
• Nɔ fɔ fred tin dɛn we denja.
• Fɔ bit, te, fɔ sok, ɔ fɔ swɛla ɔltɛm (hyperorality).
• We pɔsin nɔ de rɛst.
• Slip prɔblɛm - frayd fɔ go slip, parasomnia, ɛn slip apnea.
• Chenj we yu de waka, fɔ ɛgzampul, we yu de waka wit yu fut .
• Bɔdi stiffness, spasticity.
• Di sik dɛn we kin mek pɔsin sik.

Di simptom dɛm na yu yes, nos, ɛn trot:

• I nɔ de yɛri fayn igen.
• Infεkshכn dεm na yu yes bכku tεm (otitis).
• Nasal kɔnjɛshɔn we de kɔntinyu fɔ de.
• nid fכ mek dεn pul di adenoid dεm εn di tכnsil dεm (adenotonsillectomy) bifo di nכmal pikin dεm.

Ɔda sayn dɛn we de sho se yu gɛt dis sik:

• Dayarɛa ɔ kɔnstipɛshɔn fɔ lɔng tɛm.
• Banbɛlɛ.
• Bɛlɛ nɔ kin fil fayn.
• At ritm irɛgyulariti (arithmia).
• Di sik we de na di at mɔsul (cardiomyopathy).
• Di jɔyn dɛn we stif.
• Skɔliosis we de mek pɔsin gɛt sik.

Wetin kin mek pɔsin gɛt Sanfilippo Syndrome?

As wi bin dɔn tɔk bifo tɛm, Sanfilippo syndrome na wan Lysosomal Storage Disease (LSD).Na wan sik we de kɔmɔt na di jɛnɛtiks we de insay di grup we dɛn kɔl. Pipul wae gɛt dis sik kin gɛda pɔyzin tin dɛm na dɛn bɔdi sɛl dɛm. di rizin fכ dis na biכs sכ m εnzym dεm na dεn bכdi nכ de wok fayn כ dεn nכ de . We dɛn ɛnzaym ya nɔ de, wi bɔdi nɔ kin ebul fɔ brok ɛn pul sɔm tin dɛn. Na we dɛn gɛda na di bɔdi, na in dɛn kin du bad.

pan Sanfilippo syndrome, wan pan di fכ enzym dεm we de εp fכ brok dכn wan tin we dεn kכl heparan sulfate nכ de. afta dat di hεparan sכlfεt de kכmכt na di sεl dεm εn i de pwεl dεm. dis akyumyulesh כn de afekt di pikin in bren sεl dεm mכst .

dis εnzym dεfisiεns dεm de kכz fכ di jεnεtik mכtεshכn dεm , patikyular mכtεshכn dεm na di jin dεm lεk di SGSH jin .

Dɛn chenj ya na di jɛnɛtiks na di pikin kin gɛt frɔm in mama ɛn papa ɔl tu. dis dεn kכl am כtosom rεsεsiv patεn fכ inhεrit. Dis min se di mama ɛn papa dɛn ɔl tu fɔ bi pipul dɛn we gɛt di jin we dɔn chenj. Bɔt, pɔsin we gɛt dis jin nɔ kin sho di sayn dɛn.

Aw yu kin no dis sik kɔrɛkt wan?

Bikɔs Sanfilippo syndrome nɔr kin bɔku ɛn in sayn dɛm kin tan lɛk ɔda kɔmɔn sik dɛm , bɔrku tɛm dɛn kin delay fɔ no di sik. Dɔktɔ dɛn kin misdiagnose dis sik as divɛlɔpmɛnt delay, Attention-Deficit/Hyperactivity Disorder (ADHD) , ɔ ɔtizm .

Yu pikin in dɔktɔ go du in bɔdi ɛgzam ɛn in nyurolɔjik ɛgzam. Dɛn go aks bak bɔt yu pikin in sik ɛn in mɛdikal istri. Dɛn kin ɔda bak fɔ mek dɛn du tɛst fɔ mek dɛn nɔ no ɔda tin dɛn we de apin.

Tεst dεm we de εp fכ kכnfכm di diagnosis fכ Sanfilippo syndrome na:

• GAG urine test: dεn de chεk wan urine sεmpl frכm di pikin fכ si if wan tin we dεn kכl glycosaminoglycans (GAG) .
• εnzym analisis: dεn de mכsu di aktiviti fכ di rilevεnt εnzym dεm na bכdi sεmpl.
• Jεnεtik tεst: Dis tεst kin chεk fכ jεnεtik chenj dεm (mכtεshכn) we dεn no se i gεt fכ du wit Sanfilippo sεndrכm.

Apat frɔm dat, di dɔktɔ kin tɛl am fɔ du ɔda tɛst fɔ si if di pikin in ɔgan ɔ tisu dɛn dɔn pwɛl. Fɔ ɛgzampul:

• Bren MRI skan.
• Wan ay ɛgzam.
• Wan tɛst fɔ yɛri.
• di hat tεst dεm - lεk εkokardiogram εn εlektrokardiogram (EKG) .
• Wan stɔdi bɔt slip.
• X-ray ɛgzamɛn dɛn.

Diagnosis bifo dɛn bɔn pikin

If pɔsin na yu famili dɔn gɛt Sanfilippo syndrome, yu dɔktɔ kin se yu fɔ tɛst yu pikin we nɔ bɔn yet fɔ di sik we i gɛt bɛlɛ. dis kin bi tru tεst dεm lεk amniocentesis כ chorionic villus sampling .

Wetin na di tritmɛnt dɛm fɔ Sanfilippo Syndrome?

Bɔt i sɔri fɔ no se naw, no mɛrɛsin nɔ de fɔ mɛn ɔ fɔ chenj di sik fɔ di sik we dɛn kɔl Sanfilippo syndrome . Di tritmɛnt de fɔs fɔ mɛn di sik dɛn ɛn di kia we dɛn de kia fɔ di sik we dɛn kɔl palliativ kia . Bikɔs di sik kin afɛkt bɔku tin dɛn we kin apin to pikin in wɛlbɔdi, dɛn nid fɔ gɛt bɔku bɔku dɔktɔ dɛn fɔ trit di pikin. Dis tim kin gɛt:

• Di dɔktɔ dɛn we de mɛn pikin dɛn.
• Di wan dɛn we de stɔdi bɔt nyurolɔji fɔ pikin dɛn.
• Di wan dɛn we de mɛn pipul dɛn we gɛt bɔdi.
• Ɔkupeshɔn tɛrapist dɛn.
• Di wan dɛn we de stɔdi bɔt aw pɔsin kin tɔk ɛn langwej.
• Otolaryngologists (spɛshal pipul dɛn we sabi bɔt yes, nos, ɛn trot).
• Di wan dɛn we de stɔdi bɔt pikin dɛn maynd.
• Soshal woka dɛn.
• Speshal ɛdyukeshɔn pipul dɛn.

Dɛn spɛshal pipul ya kin se dɛn fɔ tek mɛrɛsin, tritmɛnt, ɛn tin dɛn fɔ ɛp am we dɛn mek fɔ di pikin in nid. Di men gol dɛm fɔ tritmɛnt na fɔ mek di pikin kɔntinyu fɔ du tin, fɔ mek i ebul fɔ du mɔ, ɛn fɔ mek i gɛt di ay kwaliti layf.

Yu pikin kin gɛt di chans bak fɔ tek pat pan wan klinik trial . Aks yu pikin in mɛdikal tim bɔt dis. Naw, di wan dɛn we de stɔdi bɔt dis sik de stɔdi sɔm patikyula tritmɛnt dɛn fɔ di sik we dɛn kɔl Sanfilippo syndrome. Fɔ ɛgzampul:

• Enzym riplesmɛnt tɛrapi.
• Stem sel we dɛn kin transplant.
• Jin tɛrapi.

Insay di leta stej dɛm fɔ di sik, di prɔyoritɛt fɔ tritmɛnt na fɔ mek dɛn kɔntinyu fɔ gɛt kwaliti layf ɛn fɔ mek dɛn nɔ gɛt prɔblɛm.

Wetin a fɔ ɛkspɛkt if mi pikin gɛt Sanfilippo Syndrome?

If yu pikin gɛt Sanfilippo syndrome, i go mɔs bi se yu go gɛt apɔntinmɛnt fɔ dɔktɔ ɛn tɛst ɔltɛm. E kin tranga fɔ ɔndastand dis kɔmpleks kɔndishɔn wan tɛm. Bɔt mɛmba se yu pikin in mɛdikal tim de wit yu ɛvri step na di rod. Bikɔs di sik we dɛn kɔl Sanfilippo syndrome kin afɛkt ɛni pikin difrɛn we, yu pikin in mɛdikal tim kin advays yu fayn fayn wan bɔt wetin go apin to yu pikin ɛn yu famili tumara bambay.

We yu pikin gɛt di sik we dɛn kɔl Sanfilippo syndrome leta, bɔku tɛm yu kin gɛt dɛn tin ya:

• Di kɔnekshɔn wit di tin dɛn we de arawnd dɛn nɔ de igen.
• Dimɛnshɔn .
• Lɔs fɔ di motoka wok dɛm lɛk fɔ waka, tɔk, ɛn it.

Dɛn wɛl bɔdi prɔblɛm ya kin wɔs as tɛm de go ɛn leta i kin mek pɔsin day. Infεkshכn dεm na di say dεm we dεn de blo, mכtalman nyumonia , na dεn kin mek dεn day mכst.

Wetin na di layf we pɔsin we gɛt Sanfilippo Syndrome kin liv?

Insay wan stɔdi we dɛn bin du pan 113 pipul dɛn we gɛt Sanfilippo sindrom, di avɛrej layf we dɛn bin de liv na:

• Tayp A: I ol bitwin 11 ɛn 19 ia.
• Tayp B: I ol bitwin 12 ɛn 16 ia.
• Tayp C: I ol bitwin 14 ɛn 32 ia.

Tayp D nɔ kin bɔku, so nɔto inof infɔmeshɔn de bɔt am.

Bɔt, di tin we impɔtant pas ɔl na dat, ɔl pikin we gɛt Sanfilippo syndrome difrɛn . Yu pikin in mɛdikal tim go bi di bɛst pɔsin fɔ gi yu gud aidia bɔt aw di sik go afɛkt yu pikin in wɛlbɔdi.

Yu tink se dɛn kin ebul fɔ avɔyd Sanfilippo Syndrome?

Bikɔs Sanfilippo syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, natin nɔ de we yu go du fɔ mek i nɔ gɛt am .

Bifo yu bɔn pikin, if yu de wɔri bɔt di risk fɔ pas Sanfilippo syndrome ɔ ɔda jenɛtik sik to yu pikin, i fayn fɔ tɔk to dɔktɔ ɛn gɛt kɔyl fɔ yu jenɛtik .

If mi pikin gɛt Sanfilippo Syndrome, aw a fɔ kia fɔ am?

If yu pikin gɛt Sanfilippo syndrome, i rili impɔtant fɔ mek shɔ se dɛn gɛt di bɛst mɛrɛsin we pɔsin kin gɛt . We yu advatayz fɔ yu pikin, yu kin ɛp fɔ mek shɔ se dɛn gɛt di bɛst kwaliti fɔ liv.

Yu ɛn yu famili kin jɔyn sɔpɔt grup bak usay yu kin mit ɔda pipul dɛn we dɔn gɛt di sem kayn ɛkspiriɛns. Dis kin mek wi gɛt bɔku trɛnk.

Kɔndishɔn wae kin mek yu nervɔs sistɛm wik smɔl smɔl, lɛk Sanfilippo syndrome, kin gɛt siriɔs bad bad impak pan yu ɛn yu famili in maynd wɛl bɔdi ɛn kwaliti layf. Mama ɛn papa ɛn di wan dɛn we de kia fɔ pikin dɛn we gɛt Sanfilippo syndrome kin gɛt bɔku prɔblɛm dɛn lɛk Post-Traumatic Stress Disorder (PTSD) . So, yu fɔ tek kia ɔf yu maynd wɛlbɔdi bak. If yu de gɛt pwɛl hat, wɔri, ɔr de strɛs fɔ lɔng tɛm, mek shɔ se yu go to dɔktɔ we de mɛn yu maynd ɔ pɔsin we de gi yu advays.

Ustɛm mi pikin fɔ go to dɔktɔ?

Yu fɔ mek yu pikin in mɛdikal tim chɛk dɛn ɔltɛm ɛvri 6 to 12 mɔnt (ɔ mɔ) fɔ no se dɛn de chenj dɛn maynd, dɛn motoka skil, ɛn aw dɛn de biev. If yu notis ɛni nyu sayn, ɔ if i tan lɛk se yu sik de wɔs, tɔk to yu pikin in mɛdikal tim wantɛm wantɛm.

Fɔ dɔn, tin dɛn we wi fɔ mɛmba

Na nɔmal tin fɔ fil bad ɛn shɔk we yu yɛri se yu gɛt di sik we dɛn kɔl Sanfilippo syndrome. Bɔt mɛmba se, yu pikin in mɛdikal tim go gi yu wan kɔmprɛhnsiv manejmɛnt plan we go spɛshal fɔ yu pikin. I impɔtant fɔ mek shɔ se yu, yu pikin, ɛn yu famili gɛt di sɔpɔt we dɛn nid, ɛn fɔ de wach bɔt yu pikin in wɛlbɔdi. Yu pikin in mɛdikal tim rɛdi fɔ sɔpɔt yu ɛvri step na di rod. Nɔ panik, fes dis chalenj wit kɔrej. Nɔ shem fɔ lan di tin dɛn we yu nid, aks kwɛstyɔn dɛn, ɛn gɛt di ɛp we yu nid.

` Sanfilippo sεndrכm, jεnεtik sik dεm, pikin dεm sik dεm, nεv sεstem, εnzym dεm, mucopolysaccharidosis