Yu no bɔt Sandhoff Disease? Lɛ wi tɔk bɔt dis sik we nɔ kin apin so ɔltɛm!

Yu dɔn ɛva yɛri bɔt wan sik we rili strenj ɛn we nɔ kin bɔku? Sɔntɛnde, dɛn kin bɔn pikin dɛn we gɛt wɛlbɔdi, bɔt afta sɔm mɔnt, dɛn kin chenj sɔm chenj dɛn na dɛn divɛlɔpmɛnt. Tide wi go tɔk bɔt wan pan dɛn kayn sik ya we nɔ kin bɔku bɔt we rili siriɔs we dɛn kɔl Sandhoff sik . Dis nem kin bi nyu tin to yu. Bɔt i rili impɔtant fɔ no bɔt am, mɔ if pɔsin na wi famili gɛt dis sik.

Wetin na Sandhoff Disease?

Fɔ tɔk am simpul wan, di sik we dɛn kɔl Sandhoff na sik we nɔ kin apin so ɔltɛm we kin pwɛl di nerve cells na wi bren ɛn spɛshal kɔd . Bɔku tɛm, i kin apia we i smɔl. Dat min se di pikin kin bigin sho di sayn dεm insay fכ mכnt afta dεn bכn am. Bɔt, na smɔl tɛm nɔmɔ, dis sik kin kam pan pɔsin we i smɔl ɔ we i big.

dis na, fכ bi prεsis, wan `laysosomal stכrej dizכrd` . Naw yu kin de wɔnda wetin na dɛn laysosɔm ya. Imajin se ɛvri sɛl na wi bɔdi gɛt smɔl `garbage management center` insay. Wi kin kɔl dɛn tin ya `laysɔsɔm` . insay dεn laysosom dεm ya, plεnti kayn εnzym dεm de. di wok we dεn εnzym dεm ya de du na fכ brok, daygεst, εn klin difrεn kayn mכlikul dεm we de go insay di sεl.

Pipul dɛn we gɛt Sandhoff sik nɔ kin mek inof wan spɛshal ɛnzaym we dɛn kɔl beta-hexosaminidase . If dis ɛnzaym nɔ de, sɔm kayn fat dɛn we dɛn kɔl lipid , kin bigin fɔ gɛda insay di sɛl dɛn. I tan lɛk dɔti we dɛn nɔ go ebul fɔ pul. We dis fat gɛda tumɔs, i kin pwɛl di bren ɛn ɔda bɔdi sistɛm dɛn. Bɔt i sɔri fɔ no se bɔku tɛm, dis sik kin mek pɔsin day we i yɔŋ.

Dɛn kin kɔl am bak di sik we dɛn kɔl Sandhoff sik we dɛn kɔl wan bad bad sik we dɛn kɔl Tay-Sachs sik, we na ɔda sik we de na di laysosɔm.

Aw Sandhoff sik nɔ kin bɔku?

Dis na sik we nɔ kin apin so ɔltɛm . Dɛn se na wan pan ɛvri milyɔn pipul dɛn nɔmɔ kin gɛt dis sik. So i nɔ sɔprayz fɔ no se a nɔ bin dɔn yɛri bɔt am.

Udat dɛn kin gɛt dis sik?

Bikɔs Sandhoff sik na wan sik we pɔsin kin gɛt frɔm yu jɛnɛtiks, if pɔsin na yu famili gɛt dis sik, yu kin gɛt dis sik . Dɔn bak, dis sik kin bɔku pan sɔm etnik grup dɛn. Dɛn tin ya na:

• Ashkenazi Ju pipul dɛn
• Di Krio pipul dɛn na di nɔt pat na Ajentina
• Pipul dɛn na Ist Yurop
• Pipul dɛn na Lebanɔn
• Metis Indian dɛn na Saskatchewan, Kanada

Dis min se if yu layn gɛt ɛni kɔnekshɔn to dɛn grup ya, smɔl risk kin de. Bɔt mɛmba se dis nɔ kin apin so ɔltɛm.

Wetin na di rizin fɔ dis?

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Sandhoff?I kin kɔmɔt frɔm di chenj dɛn we de apin na wan jin we dɛn kɔl HEXB. Jin na jɔs wan smɔl buk we de kip tin dɛn na wi bɔdi. we difεkt, כ mכtεshכn de na dis HEXB jin, di bכdi nכ kin prodyuz inof fכ di εnzym beta-hεxosaminidase. If dis ɛnzaym nɔ de, di bɔdi nɔ go ebul fɔ brok sɔm kayn fat dɛn. Dɔn dɛn fat dɛn de kin gɛda te dɛn gɛt pɔyzin, mɔ na di nɛv sɛl dɛn na di bren ɛn di spɛnal kɔd.

Wetin na di sayn dɛm fɔ dis sik?

Di kayn we aw pipul dɛn kin gɛt Sandhoff sik na pikin dɛn we dɛn kin si . Dɛn kin tan lɛk se dɛn gɛt wɛlbɔdi we dɛn bɔn dɛn, bɔt dɛn kin bigin fɔ sho di sayn dɛn bitwin 3 ɛn 6 mɔnt . Dɛn sayn ya na:

• Bon growth abnormalities : Na kכndyushכn we di bon dεm nכ de gro fayn fayn wan.
• Strenj muvmɛnt : We yu muv yu an ɛn fut ɔ tray fɔ waka, tin kin apin insay wan we we rili strenj ɛn we nɔ kin chenj.
• "chεri-rεd" spat dεm na di yay : We yu luk insay di yay, yu kin si wan rεd spat we lεk di kכla fכ chεri. Dis na wan kayn tin wae de sho dis sik.
• di ed big (macrocephaly) כ di intanεt כgan dεm we de big (organomegaly) : di כgan dεm, spεshal wan di liva εn di splin kin big pas aw i nכmal.
• Startle response : di pikin de stat εn flinch we i ivin di sכmtεm sawnd.
• Infεkshכn we de apin na di rεspiretכri bכku tεm : Dis min se sik dεm we de kכmכt frכm di lכng kin apin bכku tεm.
• dilay divεlכpmεnt fכ mכtalman skil dεm : Tin dεm lεk fכ kray, sidon, εn rכl ova kin apin leta pas כda pikin dεm.
• di mכsul dεm wik, i at fכ kכntrכl di mכsul dεm (ataxia) כ di mכsul dεm de jεk (myoclonus) : Na fכ fil fכ wik, yu nכ de bכlε, εn sכmtεm di mכsul dεm de twitch.

We di sik we dɛn kɔl Sandhoff kin rili bad, di pikin dɛn kin gɛt dɛn tin ya:

• I nɔ de yɛri fayn igen
• Disabiliti dɛn we gɛt fɔ du wit intɛlektual
• Paralayz we pɔsin kin gɛt
• Epilepsy ( we pɔsin kin gɛt sik ) .
• We pɔsin nɔ de si fayn igen
• Bɔt i sɔri fɔ no se, day we i yɔŋ .

Na smɔl tɛm nɔmɔ, sɔm pipul dɛn kin gɛt Sandhoff sik we dɛn smɔl ɔ we dɛn big. De sayn dεm kin fiba, bכt bכku tεm dεn nכ kin tranga lεk we pikin dεn kin bכn.

Aw dɛn kin no dis sik?

Dɔktɔ dɛn kin no if pɔsin gɛt Sandhoff sik bay we dɛn tink bɔt dɛn tin ya:

• Rivyu di sayn dɛm ɛn ustɛm dɛn bigin : Yu fɔ tɔk bɔt di dɔktɔ ditayli we yu fɔs notis chenj na yu pikin ɛn wetin na dɛn sayn dɛm de.
• Tɔk bɔt famili istri ɛn trayb we yu kɔmɔt : I impɔtant fɔ no if ɛnibɔdi na yu famili gɛt dɛn sik ya ɛn if yu gret gret granpa dɛn gɛt fɔ du wit di etnik grup dɛn we wi bin dɔn tɔk bɔt.
• Fɔ chɛk di pikin: Di dɔktɔ de chɛk di pikin.
• Blɔd tɛst : Dɛn kin du blɔd tɛst fɔ si if di beta-hexosaminidase ɛnzaym nɔ de ɔ i nɔ de atɔl.
• jεnεtik tεst : dεn de du jεnεtik tεst fכ kכnfכm if di HEXB jin mכtεshכn de.

Wetin na di tritmɛnt dɛn?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl Sandhoff . Di tritmɛnt dɛm wae de naw de pe atɛnshɔn fɔ ridyus di sik dɛm ɛn ɛp di sik pipul dɛm fɔ de fil fayn as dɛn ebul. Dɛn tin ya kin bi:

• Antikonvulsant kin kɔntrol di epileptic seizures.
• Fɔ gi yu gud it .
• Fɔ mek yu gɛt di rayt wata na di bɔdi.
• Fɔ ɛp fɔ mek di say we yu de blo opin (ridyus di prɔblɛm dɛn we yu kin gɛt we yu de blo).

Pan ɔl we dɛn nɔ stil gɛt mɛrɛsin fɔ dis sik we go de sote go, dɔktɔ dɛn ɛn pipul dɛn we de stɔdi bɔt dis sik de luk fɔ nyu tritmɛnt ɔltɛm. Dat na big big op.

Bɔku tritmɛnt dɛn de we dɛn de chɛk naw ɛn we kin ɛp tumara bambay:

• Bɔn mɛrɔ we dɛn kin transplant
• Jin tɛrapi : Dis de tray fɔ kɔrɛkt di jin we nɔ fayn.
• Substrate rεdukshכn tεrapi : Dis involv fכ chenj di mכlikul dεm we de involv insay di sik prכsεs εn tray fכ stכp di sik we de go bifo.
• Stem sɛl tɛrapi

I rili impɔtant fɔ mek famili dɛn we gɛt di sik we dɛn kɔl Sandhoff fɔ tɔk to pipul dɛn we sabi bɔt dɛn jɛnɛtiks ɔ pipul dɛn we de advays dɛn bɔt dɛn jɛnɛtiks . Dɛn kin ɛp fɔ disayd if ɛni ɔda pɔsin na di famili fɔ tɛst fɔ dɛn jɛnɛtik muteshon ya.

Wetin na di fiuja fɔ pipul dɛm wae gɛt dis sik?

Fɔ tɔk tru, di fiuja fɔ pipul dɛn we gɛt Sandhoff sik nɔ kin rili fayn, ɛn di layf we dɛn kin liv nɔ kin te . we pikin dεn gεt dis sik, dεn kכndyushכn kin wכs kwik kwik wan εn dεn kin day we dεn rich 3 כ 4. Bɔku tɛm, i kin bi bikɔs ɔf di kɔmplikεshכn dεm we kin kam wit infεkshכn dεm na di rεspiretכri. A no se dis na sɔri tin fɔ yɛri.

Wi go ebul fɔ protɛkt dis sik?

I sɔri fɔ no se, no we nɔ de fɔ mek dɛn nɔ gɛt Sandhoff sik bikɔs na jenɛtik. Bɔt di wan dɛn we de stɔdi bɔt yu jɛnɛtiks ɛn di wan dɛn we de gi advays bɔt yu jɛnɛtiks kin ɛp yu fɔ no if pɔsin na yu famili de pan denja fɔ gɛt dis sik. Da infɔmeshɔn de kin fayn, fɔ ɛgzampul, we wi de disayd if wi fɔ bɔn pikin.

If mi pikin gɛt Sandhoff sik, wetin a fɔ aks di dɔktɔ dɛn?

If dɛn no se yu pikin gɛt Sandhoff sik, yu kin aks di dɔktɔ dɛn kwɛstyɔn dɛn lɛk:

• Us kayn disabiliti wi kin ɛkspɛkt?
• Wi pikin in layfspanAw bɔku i go bi?
• Us kayn spɛshal pipul dɛn wi fɔ si? Aw ɔltɛm wi fɔ si dɛn?
• Aw a go mek mi pikin fil fayn ?
• Yu tink se ɔda pipul dɛn bak na di famili fɔ du jenɛtik tɛst ?

Wetin na di bɛst we fɔ sɔlv di sik we dɛn kɔl Sandhoff?

Bɔku tin dɛn de we go ɛp yu ɛn yu famili fɔ bia wit dis tranga tin:

• Kɔnsul : Kɔnsul go ɛp yu fɔ kɔntinyu fɔ gɛt trɛnk na yu maynd ɛn fɔ bia wit dis pwɛl hat.
• Kɔnekt wit ɔganayzeshɔn dɛn we de sɔpɔt pasɛnt ɛn risach.
• Sɔpɔt grup : Dɛn grup ya rili valyu fɔ tɔk to ɔda mama ɛn papa dɛn we de gɛt di sem tin lɛk yu ɛn fɔ sheb ɛkspiriɛns.

Sandhoff sik na wan jεnεtik mכtεshכn we nכ kin apin we kin mek fεt bכku to tכxik lεvεl dεm na di nεv sεl dεm na di bren εn spεnal kכd. Pikin dɛm we di sik gɛt kin gɛt siriɔs sik ɛn day we dɛn yɔŋ. Risach de go bifo fɔ ɔndastand mɔ bɔt di sik we dɛn kɔl Sandhoff ɛn di tritmɛnt dɛn we dɛn kin gɛt.

Faynal Mɛsej fɔ Tek-Hom

A op se yu dɔn gɛt sɔm ɔndastandin frɔm wetin wi dɔn tɔk bɔt bɔt Sandhoff sik. Di tin dɛn we impɔtant pas ɔl we yu fɔ mɛmba na:

• Dis na sik we nɔ kin bɔku we pɔsin kin gɛt we i kam pan jɛnɛtiks .
• Dis kin pwɛl di nerve cells , mɔ we i smɔl.
• di praymar k כz na we di εnzym we dεn kכl beta-hexosaminidase .
• Nɔr mɛrɛsin nɔr de fɔ ɔltɛm, bɔt tritmɛnt dɛn de fɔ kɔntrol di sayn dɛm ɛn gi kɔrej.
• Risach de apin we go gi wi op fɔ tumara bambay.
• If pɔsin na yu famili gɛt dis prɔblɛm, i rili impɔtant fɔ go to pɔsin we de advays yu bɔt yu jɛnɛtiks .
• Insay dis kayn tin, fɔ gɛt saykolojik sɔpɔt ɛn sɔpɔt savis go bi big trɛnk fɔ yu ɛn yu famili.

If dis infɔmeshɔn bin ɛp yu, dat na fayn tin. If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ shek fɔ tɔk to dɔktɔ.

` Sandhoff sik, Sandhoff sik, jεnεtik sik dεm, nεv sεl dεm, beta-hexosaminidase, lysosomal storage disease, fetal simptom dεm, jεnεtik tεst