We yu tink bɔt yu smɔl pikin in wɛlbɔdi, sɔntɛnde bɔku tin dɛn kin kam na yu maynd, nɔto so? Sɔm sik dɛn de we kin mek yu fred smɔl ɛn wɔri we yu yɛri bɔt dɛn. Wan pan dɛn kayn tin ya we kɔmplikt smɔl, bɔt i rili impɔtant fɔ mek wi ɔl no bɔt na
Tay-Sachs Disease . Dis na wan sik we pɔsin kin gɛt we i kam pan jɛnɛtiks. Tide, wi go tɔk bɔt dis simpul wan, di we we yu go ɔndastand gud gud wan.
Wetin rili na Tay-Sachs Disease?
Fɔ tɔk am simpul wan, Tay-Sachs sik na
wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . I kin mek di nεv sεl dεm (nyurכn dεm) na yu pikin in bren εn in spεnal kכd dεm dεn de pwεl εn dεn de day sכmtεm sכmtεm. Imajin us prɔblɛm dɛn kin kam if dɛn nɛv sɛl dɛn ya we kin kɛr mɛsej rawnd wi bɔdi nɔ de wok fayn. Di sayn dɛm fɔ dis sik, lɛk we
i nɔ de gro fayn ɛn we i nɔ de si ɛn yɛri fayn, kin bigin we di pikin ol lɛk 6 mɔnt. Di tin we sɔri na dat, na sik we de go bifo. Dis min se de sik kin wɔs as tɛm de go. Bɔt i sɔri fɔ no se pikin dɛn we gɛt dis sik kin day we dɛn yɔŋ. Naw,
no mɛrɛsin nɔ de fɔ mɛn am . Bɔt difrɛn tritmɛnt dɛn de we go ɛp yu pikin fɔ fil fayn ɛn liv fayn layf.
Sɔm kayn Tay-Sachs Disease de?
Yɛs, dɛn kin sheb Tay-Sachs sik to tri men kayn. Dɛn kin sheb dɛn tin ya akɔdin to di tɛm we di sik bigin fɔ sho: 1.
Klasik infantil Tay-Sachs: Dis na
di kayn we we dɛn kin gɛt mɔ . Pikin dεm kin bigin fכ sho di sayn dεm we dεn ol lεk 6 mכnt. 2.
Juvenile Tay-Sachs: Dis
nɔ kin apin so ɔltɛm . Pikin dɛn kin sho di sayn dɛm bitwin 5 ia ɛn di tɛn ia. 3.
Let-onset Tay-Sachs: Dis na
wan kayn we bak we nɔ kin apin so ɔltɛm . Di sayn dɛm kin bigin wae pɔrsin dɔn pas 12 ia ɔr wae pɔrsin dɔn big. Sɔmtɛm de sik kin kam afta yu dɔn ol 30. Dis kayn tin nɔr kin afɛkt layf. Wan impɔtant tin na aw dɛn sik ya kin pas na famili. Fɔ ɛgzampul, if wan pikin gɛt infantil fɔm fɔ Tay-Sachs, ɔda pikin dɛn na di famili nɔ de pan denja fɔ gɛt Tay-Sachs we kin bigin let.
Aw kɔmɔn tin na Tay-Sachs Disease?
Stɔdi dɔn sho se, pan avɛj, lɛk
wan pan ɛvri 300 pipul dɛn kin bi pɔsin we gɛt di jɛnɛtik we de chenj ɔ di muteshɔn we kin mek pɔsin gɛt Tay-Sachs sik. Bɔt di nɔmba fɔ pikin dɛn we dɛn bɔn wit Tay-Sachs sik rili smɔl. So, dɛn kin tek am se
na sik we nɔ kin apin so ɔltɛm . Di awareness, edukeshɔn, ɛn jenɛtik tɛst dɔn ɛp fɔ ridyus dis sik we de prɛd pan pipul dɛm we de pan risk.
Wetin na di sayn dɛm fɔ Tay-Sachs Disease?
Di sayn dɛm fɔ Tay-Sachs sik kin difrɛn difrɛn wan fɔ di pikin in ej. Di sik kin go bifo as di pikin de gro.
Wan pan di men sayn dɛm we dɛn kin si pan pikin dɛm na we dɛn nɔ kin mit di divɛlɔpmɛnt maylston dɛm ɔ fɔ fɔgɛt di skil dɛm we dɛn bin dɔn lan ɛn praktis bifo tɛm. Simptom dɛm fɔ Klasik Infantil Tay-Sachs
Di sayn dɛm wae yu kin si na di fɔs stej (arawnd 6 mɔnt):
- Di mɔsul dɛn we wik .
- I nɔ izi fɔ tɔn yu nɛk, sidɔm, ɔ nil dɔŋ.
- Fɔ mek yu fred izi wan bay lawd nɔys dɛn.
As de sik de go bifo (bifo wan ia), sɔm kayn sayn dɛm lɛk dis kin kam bak:
We di pikin ol lɛk 2 ia so, di sik dɔn so bad dat di pikin
nɔ kin ebul fɔ du sɔntin . Dis min se bɔku pan di wok we di bren de du nɔ de wok igen. Di pikin kin day bitwin 2 ɛn 4. Di tin we kin mek i day pan Tay-Sachs sik we i smɔl na wan infekshɔn na in lɔng lɛk
nyumonia .
Simptom dɛm fɔ Juvenile Tay-Sachs
Afta dɛn dɔn ol 5 ia, pikin dɛn we dɛn no se gɛt Tay-Sachs sik we dɛn bin smɔl kin gɛt sɔm sayn dɛn lɛk:
- Di mɔsul dɛn wik ɔ nɔ ebul fɔ kɔntrol di mɔsul dɛn.
- Infekshɔn dɛn we kin kam bɔku tɛm.
- I nɔ izi fɔ tɔk ɛn langwej (e.g., fɔ slɔr wɔd, nɔ ebul fɔ tɔk klia wan).
- Fɔgɛt bɔt tin dɛn we yu bin dɔn lan bifo tɛm.
- Chenj pan bihayvya εn mכd (e.g., wae yu de vɛks wantɛm wantɛm, yu de fil bad).
- I nɔ kin ebul fɔ si ɛn yɛri fayn.
- Fɔ gɛt fit (seizures).
Dis sik kin go bifo smɔl smɔl te i yɔŋ, ɛn insay da tɛm de i kin mek pɔsin day.
Simptom dɛm fɔ Tay-Sachs we kin bigin let
Big pipul dɛm we dɛn no se gɛt Tay-Sachs sik we kin bigin let kin gɛt sɔm sayn dɛm lɛk:
Bɔt dis kayn we aw pɔsin kin bigin fɔ liv let nɔ kin afɛkt di we aw pɔsin de liv in layf dairekt wan.
Wetin kin mek pɔsin gɛt Tay-Sachs Disease?
di men tin we de mek Tay-Sachs sik na
di jεnεtik chenj (mכtεshכn) na di HEXA jin . Tink bɔt dis HEXA jin tan lɛk buk we de gi instrɔkshɔn to wi sɛl dɛn. dis buk gεt di instrכkshכn dεm fכ mek wan εnzym we dεn kכl
hεksosaminidase A. Dis εksosaminidase A εnzym
lεk wokman na wi bכdi. I wok na fɔ brok ɛn pul sɔm bad bad tin dɛn we gɛt pɔyzin (espɛshali tin dɛn we gɛt fat) we kin gɛda na di bɔdi. naw, wetin kin apin if dis εnzym nכ de prodyuz fayn כ if i nכ de wok fayn biכs fכ difεkt na di HEXA jin? Da
bad bad fat tin de bigin fɔ gɛda insay di sɛl dɛn, lɛk dɔti we dɛn dɔn gɛda . Dis kin mek di sɛl dɛn we de na di bren ɛn di spɛnal kɔd pwɛl, ɛn leta dɛn sɛl dɛn de day. Na dat na di rizin fɔ di sayn dɛm fɔ Tay-Sachs sik.
Aw dɛn kin gɛt di sik we dɛn kɔl Tay-Sachs? Wetin ɔtosomal rɛsɛsiv min?
Tay-Sachs sik na wan
ɔtosom rεsεsiv kכndishכn. Fɔ tɔk am simpul wan, dis min se
fɔ mek pikin gɛt Tay-Sachs sik, di pikin fɔ gɛt tu kɔpi dɛn we nɔ fayn fɔ di HEXA jin. Wi ɔl gɛt tu kɔpi fɔ ɛni jin, wan na wi mama ɛn wan na wi papa. Tay-Sachs sik kin apin nɔmɔ if di mama ɛn papa ɔl tu gɛt di HEXA jin we nɔ fayn ɛn pas dɛn tu jin ya we nɔ fayn to dɛn pikin. afta dat di pikin in tu kכpi dεm fכ di HEXA jin nכ de wok fayn. Sɔntɛnde, dɔktɔ dɛn kin kɔl dis sik bak hexosaminidase A deficiency, ɔ hex A deficiency.
Udat na Tay-Sachs kariɔ?
Kriɔ na
pɔsin we gɛt wan kɔpi we de wok fɔ di HEXA jin ɛn wan kɔpi we nɔ fayn . Wi ɔl kin gɛt tu kɔpi dɛn fɔ di jin (wan frɔm wi mama in eg, di ɔda wan frɔm wi papa in swɛlin).
Di wan dɛm wae gɛt dis sik nɔr kin gɛt dis sik ɔr kin sho sɔm sayn dɛm.. Bikɔs dɛn bɔdi kin yuz da wan aktif jin de fɔ mek di ɛnzaym we dɛn nid. Naw imajin se tu pipul dɛn we gɛt dis jin muteshon (tu pipul dɛn we de kɛr am) kam togɛda fɔ bɔn pikin. Dɔn di chans fɔ mek da pikin de gɛt dis sik na dɛn wan ya:
- 25% (wan pan fכ) chans de fכ di pikin nכ go gεt εni difεktiv HEXA jin dεm. Dis min se di pikin nɔ go gɛt Tay-Sachs sik ɛn i nɔ go bi pɔsin we de kɛr am.
- 50% (wan pan tu) chans de fɔ mek pikin gɛt wan jin we nɔ fayn frɔm wan mama ɔ papa. Dɔn di pikin go bi pɔsin we de kɛr am, bɔt i nɔ go gɛt Tay-Sachs sik. As pɔsin we de kɛr di jin, i kin pas di jin to in pikin dɛn tumara bambay.
- 25% (wan pan 4) chans de fɔ mek pikin gɛt di jin we nɔ fayn frɔm in mama ɛn papa ɔl tu. Na da tɛm de di pikin go gɛt Tay-Sachs sik.
I tan lɛk se yu de flip kɔyn. Ɔl dɛn tri tin ya kin afɛkt ɛvri bɛlɛ ikwal wan.
Wetin na de risk factor fɔ Tay-Sachs Disease?
Pikin kin gɛt mɔ risk fɔ gɛt Tay-Sachs sik
nɔmɔ if dɛn mama ɛn papa ɔl tu na di wan dɛn we gɛt di jin muteshon . Ɛnibɔdi kin bi pɔsin we de kɛr dis jin muteshon. Bɔt dis sik kin apin mɔ pan sɔm etnik grup dɛn. Fɔ ɛgzampul, pipul dɛn
we kɔmɔt na Frɛnch-Kanadian, Istan Yuropian, ɔ Ashkenazi Ju famili kin gɛt dis jin we dɛn chenj. Na lɛk wan pan ɛvri 30 pan dɛn kin bi pɔsin we de kɛr di sik.
Wetin na de prɔblɛm wae kin kam wit Tay-Sachs Disease?
Pikin dɛn we gɛt Tay-Sachs sik
kin day we dɛn yɔŋ . As di sik de go bifo, di pikin in layf de go dɔŋ.
Aw dɛn kin no se pɔsin gɛt Tay-Sachs Disease?
Wan dɔktɔ kin no se i gɛt Tay-Sachs sik
bay we i tek blɔd tɛst . Fɔ dis tɛst, di dɔktɔ kin tek smɔl blɔd na yu pikin in il ɔ wan vein na in an. afta dat dεn de tεst di bכdi sεmpl fכ
di lεvεl fכ di εnzym hεxosaminidase A. pan pikin we gεt Tay-Sachs sik we i bεlε, dis protin nכ de kכmplit כ i de ridyus bכku. Pipul wae gɛt ɔda kayn sik kin gɛt smɔl smɔl dis ɛnzaym bak. Apat frɔm dat, dɔktɔ kin du
in yay ɛgzam fɔ chɛk fɔ si if
di chɛri-rɛd ples de na yu pikin in yay.
Yu kin no se yu gɛt Tay-Sachs sik we yu gɛt bɛlɛ?
Yɛs, tu spɛshal tɛst dɛn de we kin no di sik we dɛn kɔl Tay-Sachs we uman gɛt bɛlɛ:
- Amniocentesis test: Insay dis tεst, di dכkta de tek sכm sכm sεmpl fכ di amniotic fluid we de rawnd di pikin na yu uterus εn tεst am.
- Chorionic Villus Sampling (CVS) test: Insay dis tεst, di dכkta de tek wan sכm sכm tisu frכm di plasεnta εn egzamin am.
dεn tu tεst dεm ya de luk fכ
di εnzym hεxosaminidase A. if di lεvεl dεm fכ dis εnzym na di tεst sεmpl dεm dכn lכs pas nכmal, di dכkta go no se di pikin we de na di bεlε gεt Tay-Sachs sik. pan tap dat, dεn kin yuz dεn sεmpl dεm ya fכ du
jεnεtik tεst fכ no if mכtεshכn de na di HEXA jin we de mek di sik.
Aw dɛn kin trit Tay-Sachs Disease?
Di tritmɛnt fɔ Tay-Sachs sik na mɔ
sɔpɔt kia, we kin ɛp fɔ kɔntrol di pikin in simptom dɛm . Fɔ ɛgzampul, dɔktɔ kin gi yu mɛrɛsin fɔ kɔntrol aw di sik bigin. I impɔtant bak fɔ mek shɔ se di pikin de
it fayn ɛn gɛt wata . Di mɛdikal tim go mek di pikin fil fayn ɛn nɔ gɛt pen as dɛn ebul. Apat frɔm dat, dɔktɔ dɛn go ɛp yu ɛn yu famili fɔ rɛdi fɔ di tɛm we yu pikin day. Dɛn kin rifer yu to
pɔsin we de advays yu bɔt yu maynd ɔ
wan grup we de sɔpɔt yu we yu day .
Tritmɛnt fɔ di sik we dɛn kɔl Tay-Sachs we kin bigin let
Big pipul dɛm wae gɛt Tay-Sachs sik wae kin bigin let kin gɛt dɛn tritmɛnt ya fɔ kɔntrol dɛn sik dɛm:
- Yuz tin dɛn we de ɛp yu ɔ tin dɛn lɛk wilchia fɔ ɛp yu fɔ wok fɔ yusɛf ɛn fɔ go rawnd.
- Fɔ tek mɛrɛsin fɔ mental wɛlbɔdi kɔndishɔn ɔr mɔsul spasm.
- Tɛrapi fɔ tɔk.
Yu tink se wan kɔmplit mɛrɛsin de fɔ Tay-Sachs Disease?
Nɔ, naw, no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl Tay-Sachs. Dis na di tru tin we rili sɔri.
Yu tink se dɛn kin ebul fɔ avɔyd Tay-Sachs Disease?
Naw, dɛn nɔr no we fɔ mek dɛn nɔ gɛt Tay-Sachs sik. Bɔt if yu want fɔ no yu risk fɔ bɔn pikin wit wan jenɛtik kɔndishɔn lɛk Tay-Sachs,
tɔk to yu dɔktɔ bɔt aw fɔ advays yu bifo yu gɛt bɛlɛ ɛn fɔ tɛst yu jɛnɛtiks bifo yu plan fɔ bɔn pikin . Yu dɔktɔ kin ɛp yu fɔ plan fɔ gɛt bɛlɛ tumara bambay.
Wetin na de lukin-grɔn fɔ Tay-Sachs Disease?
Tay-Sachs sik
kin kil bebi ɛn smɔl pikin dɛm. Yu pikin in mɛdikal tim go tɔk to yu bɔt
sɔpɔt ɛn kia fɔ di ɛnd ɔf layf . Dɛn go gayd bak to dɛn mama ɛn papa, di wan dɛn we de kia fɔ dɛn, ɛn di wan dɛn we de na dɛn famili bɔt aw fɔ bia we pikin day. Bɔrku famili kin gɛt bɔrku kɔrej wae dɛn kin tɔk to
pɔrsin wae de gi advays bɔt mɛntɛl hεlth ɔr fɔ go na grup wae de sɔpɔt pipul dɛm wae gɛt pwɛl hat.
Wetin mek Tay-Sachs Disease de kil pɔsin?
Tay-Sachs sik kin kil pɔsin
bikɔs di sɛl dɛn na yu pikin in bren ɛn in spɛnal kɔd kin pwɛl ɛn day.. Sεl dεm de ple rili imכtant rol fכ mek wi bכdi wok fayn fayn wan. Insay Tay-Sachs sik, wan jenɛtik muteshɔn kin mek di sɛl dɛn gɛt kɔrɛkt instrɔkshɔn. Dis kin mek di sɛl dɛn nɔ ebul fɔ du dɛn wok fayn fayn wan. Afta sɔm tɛm, dɛn sɛl ya we impɔtant fɔ di pikin in layf kin pwɛl. Bɔku tɛm, pikin dɛn we gɛt Tay-Sachs sik kin day bikɔs dɛn gɛt
wan sik we dɛn kɔl nyumonia . Bikɔs di pikin in sɛl dɛn nɔ de wok fayn, dɛn imyun sistɛm nɔ kin ebul fɔ fɛt di infɛkshɔn ɛn mek di pikin gɛt wɛlbɔdi.
Wetin na de layf fɔ pɔrsin wae gɛt Tay-Sachs Disease?
Pikin dɛm we gɛt Tay-Sachs sik we dɛn smɔl
kin day bifo dɛn ol 5. Big pikin dɛm ɛn yɔŋ pipul dɛm we gɛt Tay-Sachs sik we dɛn smɔl kin liv te dɛn big. Tay-Sachs sik we kin bigin let nɔ kin afɛkt di big pipul dɛn layf dairekt wan.
Yu tink se dɛn kin mɛn Tay-Sachs Disease?
Nɔ, dɛn nɔ go ebul fɔ mɛn pikin dɛn frɔm di sik we dɛn kɔl Tay-Sachs. Di tritmɛnt na fɔ mek di pikin fil fayn ɛn fɔ mek di sik nɔ go bifo kwik kwik wan.
Aw a go kia fɔ mi pikin we gɛt Tay-Sachs Disease?
Di bɛst we fɔ kia fɔ yu pikin na
fɔ kɔntrol di sik dɛn we i gɛt ɛn mek i fil fayn as yu ebul . Yu mɛdikal tim go gi yu gayd ɛn kia fɔ dɛn tin ya:
- Fɔ blo: Bɔku pikin dɛn we gɛt Tay-Sachs sik kin gɛt prɔblɛm fɔ blo. Dɛn kin gɛt lɔng infɛkshɔn bikɔs dɛn gɛt bɔku saliva ɛn i nɔ kin izi fɔ swɛla. Difrɛn mɛrɛsin, divays, ɔ fɔ put di pikin na di say we i de, kin ɛp am fɔ blo izi wan.
- Nyutrishɔn: Pɔsin we de stɔdi bɔt aw pɔsin de tɔk ɛn aw i de tɔk kin tich yu pikin aw fɔ ɛp am fɔ it ɛn drink. As i de at fɔ swɛla, yu pikin kin nid fɔ gɛt tiub fɔ gi am tin fɔ it .
- Siz: Wan dɔktɔ we de mɛn yu nyuro kin ɛp yu fɔ fɛn di bɛst tritmɛnt plan fɔ kɔntrol yu sik.
- sεns stimulashכn: Pikin dεm we gεt Tay-Sachs gεt sכm sεns εshyu (prכblεm wit di fayv sεns dεm). Yu kin mek dɛn sɛns bay we yu yuz tin dɛn lɛk myuzik, mobayl, sɛnt dɛn we de mek dɛn fil fayn, ɛn klos dɛn we saf.
Ustɛm a fɔ go to dɔktɔ?
Tɔk to yu dɔktɔ pan dɛn kayn tin ya:
- If yu de plan fɔ gɛt bɛlɛ: If yu de tink bɔt fɔ gɛt bɛlɛ ɛn yu gɛt ay risk fɔ pas Tay-Sachs sik to yu pikin, tɔk to yu dɔktɔ. Di risk we de go ɔp kin bi if yu ɔ yu patna gɛt famili histri bɔt Tay-Sachs sik, ɔ if wan pan una ɔ ɔl tu gɛt Tay-Sachs sik. Jɛnɛtik tɛst de fɔ di wan dɛn we gɛt ay risk fɔ gɛt pikin we gɛt Tay-Sachs sik.I kin bi.
- If yu gɛt tin dɛn we de mɔna yu we yu gɛt bɛlɛ: If yu gɛt bɛlɛ ɛn yu gɛt wɔri bɔt di wɛlbɔdi fɔ di pikin we yu nɔ bɔn yet, go to yu dɔktɔ.
- If yu pikin de sho di sik: If yu tink se yu pikin nɔ de mit di divɛlɔpmɛnt maylston dɛn di rayt tɛm ɔ i de sho di sayn dɛm fɔ Tay-Sachs, tɔk to dɛn dɔktɔ.
Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?
If yu gɛt bɔku prɔblɛm fɔ bɔn pikin we gɛt Tay-Sachs sik, aks yu dɔktɔ dɛn kwɛstyɔn ya:
- A intres pan preconception counseling , wetin a fɔ du?
- Aw a go ridyus di risk fɔ bɔn pikin we gɛt Tay-Sachs sik?
- Wetin kin apin if mi ɛn mi patna ɔl tu na pɔsin we de kɛr pipul dɛn ?
- Us tritmɛnt yu kin advays fɔ mi pikin?
- Aw a go ebul fɔ ol mi pikin fayn fayn wan?
- Yu kin rεkomεnd fɔ advays pipul dεm wae gɛt pwɛl hat ɔr fɔ sɔpɔt grup wae de sɔpɔt pɔrsin wae gɛt pwɛl hat ?
Yu tink se Sandhoff sik na di sem wit Tay-Sachs sik?
Yɛs, di sayn dɛm ɛn di prɔgrɛs
fɔ Sandhoff sik tan lɛk Tay-Sachs sik. Dis na tin bak we pɔsin kin gɛt frɔm in mama ɛn papa. Tay-Sachs sik gɛt fɔ du wit wan ɛnzaym we dɛn kɔl hexosaminidase A. Sandhoff sik gɛt fɔ du wit ɔl tu di hexosaminidase A ɛn ɔda ɛnzaym we dɛn kɔl hexosaminidase B.
Fɔ dɔn, mɛmba dis.
Tay-Sachs sik na tin we rili tranga ɛn we kin mek pɔsin in at pwɛl. Wetin yu de fil na sɔntin we wi kin ɔndastand. Insay dis tranga tɛm, na sɔm tin dɛn we go ɛp yu:
- Nɔ sɔfa yu wan. Dis na tin we at fɔ dil wit yu wan. Aks fɔ ɛp frɔm di dɔktɔ dɛn, nɔs dɛn, yu famili, ɛn padi dɛn we de trit yu pikin. If yu de fil se yu de fil bad, nɔ fred fɔ fɛn pɔsin we de advays yu ɔ jɔyn sɔpɔt grup wit mama ɛn papa dɛn we gɛt di sem ɛkspiriɛns lɛk yu yon.
- Dɛn go kia fɔ yu pikin fayn fayn wan. Ivin we di sik de wɔs, di dɔktɔ dɛn go du ɔl wetin dɛn ebul fɔ mek yu pikin fil fayn ɛn nɔ gɛt pen as dɛn ebul. Yu kin abop pan dat.
Dis impɔtant bak: If yu de tink fɔ bɔn pikin bak, fɔ tru, mek dɛn du tɛst fɔ yu jɛnɛtiks bifo yu bɔn pikin . Gɛt advays bɔt am. Dɔn una go ebul fɔ no ɔltin ɛn disayd fɔ du di bɛst as famili.
A op se dis infɔmeshɔn go ɛp yu. If yu nid mɔ infɔmeshɔn, nɔ fred fɔ aks yu dɔktɔ.
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