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

Yu dɔn ɛva yɛri bɔt sɔntin we dɛn kɔl Niemann-Pick Disease? Sɔntɛm dis nem na nyu tin to yu. Na tru tru wan sik wae nɔr kin bɔrku, wae kin kam wit jɛnɛtiks wae kin rɔn na famili. I kin mek sɔm impɔtant tin dɛn na wi bɔdi, mɔ di lipid dɛn, bɔku we wi nɔ kin ebul fɔ kɔntrol. So lɛ wi jɔs tɔk bɔt dis sik tide, nɔto so?

Wetin na Niemann-Pick Disease?

Fɔ tɔk am simpul wan, di sik we dɛn kɔl Niemann-Pick na wan sik we kin mek di lipid dɛn lɛk ɔyl, fat asid, ɛn kɔlɔstrel kin gɛda na wi sɛl dɛn instead fɔ brok fayn fayn wan ɛn chenj to ɛnaji. Dis na inherited metabolic disorders , we min se dɛn kin pas frɔm mama ɛn papa to pikin dɛn. dis we ya, di lipid dεm we de du bad kin gɛda na say dεm lεk di bren, di splin, di liva, di lכng dεm, εn di bon mכro.

Wetin na di kɔmɔn sayn dɛm fɔ dis sik?

We di fat dɛn gɛda dis we, difrɛn sayn dɛn kin apin. Sɔm pipul dɛn kin gɛt prɔblɛm dɛn we gɛt fɔ du wit di nervɔs sistɛm.

• Ataxia: Dis na we yu nɔ ebul fɔ kɔntrol di mɔsul dɛn we yu de muv bay wilful, fɔ ɛgzampul, we yu de waka.
• Di mɔsul dɛn trɛnk we de go dɔŋ.
• Smɔl smɔl di we aw di bren de wok.
• Di we aw pɔsin kin fil pasmak we pɔsin tɔch am.
• Spasticity: Dis min se di mכsul dεm stif εn dεn de muv abnכmal.
• Fɔ stɔp we yu de tɔk.

Apat frɔm dat, i kin at fɔ it ɛn swɛla, di yay kin paralayz, i nɔ kin ebul fɔ lan, ɛn di liva ɛn di splin kin big. Sɔntɛnde, i kin gɛt klawd na di kɔnia ɛn wan chɛri-rɛd halo kin de na di sɛntrɔm pan di retina.

Yu tink se men kayn sik de we dɛn kɔl Niemann-Pick?

Yɛs, tri men kayn dis sik de: di kayn A, B, ɛn C.

Tayp A: .

Dis na de kayn sik wae de pasmak. I kin afɛkt yɔŋ pikin dɛn, bɔku tɛm bifo dɛn ol sɔm mɔnt . I kin apin mɔ na di Ju famili dɛn.

• De sayn dɛm na wae yu nɔr de no natin smɔl smɔl.
• Di liva ɛn di splin kin big.
• Di limf no dɛm dɔn swel.
• Bay siks mɔnt, di bren kin pwɛl bad bad wan.

I sɔri fɔ no se dɛn kayn A pikin ya nɔ kin liv pas 18 mɔnt pan avɛj.

Tayp B: .

Dis kin apin we dɛn smɔl, we dɛn ol tɛn ɔ twɛlv ia .

• Dɛn pipul ya kin gɛt sɔm sayn dɛm bak lɛk ataxia ɛn peripheral neuropathy.
• Bɔt bɔku tɛm, i nɔ kin afɛkt di bren bɛtɛ.
• Dɛn pipul ya kin gɛt liva ɛn splin bak ɛn dɛn kin gɛt prɔblɛm wit dɛn lɔng.

Di rizin fɔ ɔl tu di kayn A ɛn B:

di men rizin fכ divεlכpmεnt fכ dεn tu tכp dεm ya na biכs di εnzym sphingomyelinase , we de εp fכ brok dכn di lipid we dεn kכl sphingomyelin, we de insay εvri sεl na wi bכdi, nכ de wok inof. dis de mek di lipid we dεn kכl sphingomyelin de kכmכt insay di sεl dεm insay tכxik כmכnt dεm.

Tayp C: .

Dis kayn kin bigin we yu yɔŋ, ɔ i kin apin we yu yɔŋ ɔ we yu dɔn big .

• dis kin bi we tu protin dεm we dεn kכl NPC1 כ NPC2 protin dεm nכ de .
• Dɛn pipul ya kin gɛt bɔku prɔblɛm wit dɛn bren, we kin mek i nɔ izi fɔ luk ɔp ɛn dɔŋ, i nɔ kin izi fɔ waka ɛn swɛla, ɛn smɔl smɔl dɛn nɔ kin ebul fɔ si ɛn yɛri.
• di liva εn di splin kin big sכmtεm bak.
• Bifo dis tɛm, pipul dɛn we kɔmɔt na dis kayn C, we bin gɛt wan kɔmɔn ansesta bakgrɔn na di eria we dɛn kɔl Nova Scotia, dɛn bin de kɔl dɛn bak tayp D. Bɔt naw i de ɔnda tayp C.

Yu tink se tritmɛnt de fɔ dis?

Infakt, no mɛrɛsin nɔ de fɔ mɛn di sik we dɛn kɔl Niemann-Pick. Naw, na di tritmɛnt dɛn nɔmɔ de we de sɔpɔt di sik we de kɔntrol di sik dɛn ɛn gi rilif. Bɔrku tɛm, dɛn pikin ya kin lɔs dɛn layf bikɔs ɔf infekshɔn ɔr di nervɔs sistɛm kin wik smɔl smɔl.

• Naw, no tritmɛnt nɔ de we go ɛp di wan dɛn we gɛt Tayp A.
• Sɔm pipul dɛn we gɛt Tayp B dɔn gɛt bon mɛrɔ transplant . Risach pipul dεm biliv bak se tin dεm lεk εnzym riplesmεnt tεrapi εn jin tεrapi kin fayn fכ pipul dεm we gεt Tayp B tumara bambay.
• If yu kɔntrol wetin yu de it ɛn drink, dat nɔ go ebul fɔ stɔp dɛn kayn fat ya fɔ gɛda na di sɛl ɛn tisu dɛn.

Wetin na di fiuja fɔ dis sik?

Di fiuja fɔ dis sik, dat na aw lɔng di pɔsin kin liv ɛn aw in layf go de, kin difrɛn difrɛn wan bay di kayn sik.

• Bebi dɛn we gɛt Tayp A , lɛk aw wi bin dɔn tɔk, kin day we dɛn smɔl .
• Pikin dεm we gεt Tayp B kin liv sכm lכng pas כda pipul dεm, bכt dεn kin nid fכ gi dεm supliment כksijεn biכs fכ di ifekt dεm pan di lכng dεm.
• Di layf we pipul dɛn we gɛt Tayp C kin liv kin difrɛn. Sɔm pipul dɛn kin day we dɛn smɔl, bɔt sɔm pipul dɛn we nɔ gɛt bɛtɛ sik kin liv te dɛn big .

Us nyu risach de apin pan dis?

Dɛn de du risach bɔt Niemann-Pick sik na difrɛn say dɛn na di wɔl, mɔ na di Nashɔnal Instityut fɔ Nyurolɔjik Disɔda ɛn Strɔk (NINDS) na Amɛrika, ɛn bakInstitiushɔn dɛm lɛk di Nashɔnal Instityut fɔ Wɛlbɔdi (NIH) de tek di lid pan dis.

• Dɛn dɔn de luk fɔ jin dɛm we de ɛp fɔ mek dis sik bigin. fכ egzampl, dεn dכn no tu difεktiv jin dεm (NPC1 εn NPC2) we de mek Niemann-Pick tayp C.
• Sayɛnsman dɛn de chɛk bak di we aw dis fat we de gɛda kin pwɛl di bɔdi.
• Risach de du bak fɔ no di bayɔmakɛr , ɔ sayn dɛm we de sho se sik de, we kin ɛp fɔ no di prɔblɛm dɛn we de mek pɔsin nɔ ebul fɔ kip di lipid kwik kwik wan. Wi op se dɛn tin ya go ɛp fɔ mek dɛn no mɔ bɔt di sik.

Fɔ dɔn, yu fɔ se...

Okay, so a op se yu gɛt sɔm aidia frɔm wetin wi dɔn tɔk bɔt Niemann-Pick Disease.

Mɛmba dis: Niemann-Pick sik na wan sik we nɔ kin apin so ɔltɛm, we pɔsin kin gɛt frɔm in mama ɛn papa, we kin mek di fat we nɔ de na di bɔdi kin gɛda fayn fayn wan.

• Tri men kayn dis sik de, A, B, ɛn C , ɛn ɛni wan pan dɛn gɛt difrɛn sayn ɛn aw i kin tranga.
• Tayp A na di wan we kin rili bad ɛn i kin afɛkt yɔŋ pikin dɛn. Tayp B kin apia we i smɔl, ɛn tayp C kin apia ɛni ej.
• Nɔr kɔmplit mɛrɛsin stil nɔr de fɔ dis , na sɔpɔt tritmɛnt dɛm nɔmɔ wae de kɔntrol di sik dɛm.
• Bɔt risach de kɔntinyu fɔ fɛn nyu tritmɛnt dɛn.
• If pɔsin na yu famili gɛt dɛn sik ya, ɔ if yu want fɔ no mɔ bɔt dis sik, i go fayn fɔ mek yu go to spɛshal dɔktɔ fɔ advays . Yu kin luk bak pan sɔpɔt grup ɛn ɔganayzeshɔn dɛm wae de ɛp pipul dɛm wae gɛt dis sik wae nɔr kin bɔrku ɛn dɛn famili.

Wi op se dis infɔmeshɔn go fayn fɔ yu. Stay wit wɛlbɔdi!

Niemann -Pick Sik, jεnεtik sik, fεt dεposit, pikin sik, nεv sεstem, sik dεm we nכ kin apin