Aw yu kin fil bad as mama ɔ papa we i nɔ kin izi fɔ yu smɔl pikin fɔ rɔn, jomp, fɔ klaym stej, ɔ fɔ grap frɔm we i sidɔm? Duchenne Muscular Dystrophy (DMD) na wan sik we pɔsin kin gɛt we i de mek di mɔsul dɛn wik smɔl smɔl ɛn i kin mɔna di bɔy pikin dɛn. Pan ɔl we dɛn stil nɔ gɛt ɛni mɛrɛsin fɔ dis fɔ ɔltɛm, naw dɛn dɔn bigin fɔ yuz nyu tritmɛnt dɛn na di wɔl fɔ kɔntrol di sik ɛn mek di pikin in layf izi. Tide, wi go tɔk bɔt di jin tɛrapi we dɛn kɔl Elevidys, we dɔn briŋ dis kayn nyu op.
Aw dis mɛrɛsin we dɛn kɔl Elevidys kin rili wok?
Fɔ ɔndastand dis, lɛ wi fɔs luk aw DMD de divɛlɔp. Tink bɔt di mɔsul dɛn na wi bɔdi as strɔng bildin. fכ kip dis bildin strכng εn nכ fכ kכlכp, wi nid wan spεshal protin we dεn kכl ‘dystrophin’. I tan lɛk di simen we de ol di brik dɛn togɛda na bildin.
pan pikin dεm we gεt DMD, bikoz fכ wan jεnεtik mכtεshכn, dis ‘siment’ we dεn kכl distrofin nכ de prodyuz fayn fayn wan. Dis kin mek di bildin blɔk dɛn we dɛn kɔl mɔsul dɛn kin wik smɔl smɔl ɛn fɔdɔm. Fɔs, di mɔsul dɛn na di leg ɛn di hip dɛn kin bigin fɔ wik. Dis kin mek i nɔ izi fɔ rɔn, jomp, ɛn klaym stej. As tɛm de go, dis wikɛd tin kin afɛkt di an, at, ɛn lɔng dɛn bak.
Elevidys na wan jin tɛrapi. fכ simpul wan, i involv fכ delivεr sכt kכpi fכ wan jin we gεt di instrכkshכn dεm fכ mek distrofin insay mכsul sεl dεm tru wan spεshal vayrus (vεktכr).
dis de εp di pikin in bכdi fכ mek wan sכt, bכt we de wok mכr, fכ di distrofin protin. Dɔktɔ dɛn op se dis ‘nyu siment’ go slo di rit we di mɔsul dɛn wik.
Aw dɛn kin gi dis tritmɛnt?
Dis nɔto pil we dɛn kin gi ɛvride. Elevidys na tritmɛnt we dɛn kin gi wan tɛm nɔmɔ insay yu layf.
Dɛn kin gi dis as infushɔn, lɛk salin, insay wan vein. Bɔt dɛn nɔ go ebul fɔ du dis na os. Dɛn kin gi am na ɔspitul, ɛn dɔktɔ dɛn kin kia fɔ am . Bikɔs dɛn nid fɔ tek tɛm wach di pikin fɔ sɔm awa we dɛn de gi di tritmɛnt.
Bifo dɛn trit am, dɛn kin bigin wan kɔtikosterɔyd-tayp stɛroyd mɛrɛsin fɔ ridyus di risk fɔ sayd ɛfɛkt. Di dɔktɔ go mek shɔ bak se di pikin dɔn dɔn ɔl in vaysin dɛn.
Wetin na di tin dɛn we dɛn dɔn du we dɛn du di risach?
Dɛn dɔn du bɔku stɔdi dɛn bɔt aw dis mɛrɛsin de wok ɛn sef. Dɛn stɔdi ya dɔn stɔdi di difrɛns bitwin pikin dɛn we dɛn gi Elevidys ɛn di wan dɛn we dɛn nɔ gi am (plasɛbo grup). Fɔ fala dis, na sɔm pan di men bɛnifit dɛn we dɛn bin fɛn.
| Bɛnifit | Simpul ɛksplen |
|---|---|
| Inkris mobiliti (NSAA Skɔ) . | Na di North Star Ambulatory Assessment (NSAA), we na wan tɛst we de mɛzhɔ aw pikin dɛn de muv, di pikin dɛn we tek Elevidys bin gɛt lɛk 2 poɛnt ay pan avɛj pas pikin dɛn we nɔ tek di mɛrɛsin. Dis min se di we aw dɛn bin ebul fɔ du tin dɛn we dɛn kin du ɛvride bin bɛtɛ smɔl. |
| Distrofin we de na di mɔsul dɛn we de bɔku | Insay di risach, we dɛn tek smɔl pat pan di pikin dɛn mɔsul dɛn ɛn chɛk dɛn (bayopsi), di amɔnt ɔf distrofin protin we de na di mɔsul sɛl dɛn na di pikin dɛn we gɛt Elevidys bin bɔku. |
| Inkris spid fɔ di aktiviti dɛn | We dɛn de mɛzhɔ di tɛm we dɛn kin tek fɔ grap frɔm we pɔsin de ledɔm, rɔn 10 mita, ɛn klaym 4 stej, di pikin dɛn we gɛt Elevidys bin ebul fɔ du dɛn wok ya kwik kwik wan. |
Bɔt mɛmba dis. Nɔto ɔl pikin go gɛt di sem rizɔlt. Yu ɛn yu dɔktɔ fɔ tɔk togɛda fɔ no aw di tritmɛnt go wok fayn.
Ɛni kes de we dɛn nɔ fɔ gi dis tritmɛnt?
Yɛs, na fɔ tru. Nɔto ɔl pikin dɛn we gɛt DMD dɛn kin gi dis mɛrɛsin. Sɔm spɛshal kes dɛn de we dɛn nɔ fɔ gi Elevidys tritmɛnt.
- spεsifi k jεnεtik dεfεkt dεm: dεn nכ de gi pikin dεm we gεt sכm spεsifi k dεfekt dεm na di jin we de mek DMD (fכ egzampl , dilit dεm na εkson 8 כ εkson 9 ) dis tritmεnt. Dɛn kin no dis bay we dɛn de tɛst di jɛnɛtiks bifo dɛn trit am.
- di antibodi lεvεl dεm we de inkrεs:Dɛn nɔ fɔ gi elevidys to pikin dɛn we gɛt ay levul antibodies agens di vayrɔs (AAVrh74 vector) we de kɛr am. Dis na bikɔs dɛn antibodi dɛn de kin mek di mɛrɛsin nɔ rich di mɔsul dɛn fayn ɛn dɛn kin mek bad bad tin apin to am. Dɛn kin no dis bak bifo tɛm wit blɔd tɛst.
- Aktiv Infεkshכn: If di pikin gεt εni infεkshכn lεk fiva, kol, kכf, כ bεlε at di tεm we i bigin trit, tritmεnt nכ go bigin te i kכl kכl.
Sayd ɛfɛkt ɛn aw fɔ mɛn dɛn?
Jɔs lɛk ɛni tritmɛnt, Elevidys kin mek yu gɛt sayd ɛfɛkt. Di sayd ɛfɛkt dɛn we kin apin mɔ na fɔ nɔs ɛn vɔmit . Dɛn tin ya kin apin insay di fɔs wik. If yu pikin gɛt ɛni wan pan dɛn sayn ya, tɛl yu dɔktɔ. Dɛn go gi yu mɛrɛsin fɔ ɛp fɔ mek yu vɔmit. I impɔtant bak fɔ drink bɔku wata fɔ mek yu nɔ gɛt wata na yu bɔdi.
Apat frɔm dat, i fayn fɔ no bɔt ɔda bad bad tin dɛn we kin apin to yu ɛn di sayn dɛn we dɛn kin gɛt.
| Sayd ɛfɛkt we pɔsin kin gɛt | Ficha dɛn we yu fɔ luk fɔ |
|---|---|
| Fiva | Fiva kin bi sayn fɔ se yu gɛt infekshɔn, so if yu gɛt fiva, mek yu dɔktɔ no. |
| Di blɔd pletlɛt dɛn we nɔ de bɔku (Thrombocytopenia) . | Plɛtlɛt dɛn kin ɛp fɔ mek blɔd klot we yu de blɔd. If dɛn tin ya smɔl, .
|
| Di tin dɛn we kin apin to di liva | If di wayt pat na di yay ɔ di skin de tɔn yɔlɔ, dat kin bi sayn fɔ se yu gɛt prɔblɛm wit yu liva. Yu dɔktɔ go de chɛk dis ɔltɛm bay we i de du blɔd tɛst (LFT). |
| Di tin dɛn we kin apin to di at | If yu gɛt pen na yu chɛst ɔ yu nɔ kin ebul fɔ blo, dat kin bi sayn fɔ se di at mɔsul dɔn inflam. Tɛl yu dɔktɔ wantɛm wantɛm. |
De tin wae impɔtant pas ɔl na fɔ tɔk to yu dɔktɔ ɛn nɔr de shem bɔt ɛni sayn wae yu tink se nɔr kin izi fɔ yu.
Us tɛst dɛn go du bifo ɛn afta tritmɛnt?
Yɛs, bikɔs dis na kɔmpleks tritmɛnt, dɛn kin du bɔku tɛst dɛn fɔ mek dɛn ɔndastand di pikin in wɛlbɔdi.
- Jεn tεst: Kכnfכm if di pikin gεt DMD insεf εn if εni jεnεtik dεfεkt de we go mek Elevidys nכ fit.
- Antibodi test: Chεk di lεvεl fכ antibodi dεm agens di AAVrh74 vayrus we wi bin tכk bכt bifo.
- Kɔmplit blɔd kɔnt (CBC): Chɛk fɔ si if yu gɛt infɛkshɔn ɔ ɔda tin dɛn we nɔ fayn na di blɔd.
- Liva fכnshכn tεst (LFT): Monitor liva hεlth bifo εn afta tritmεnt.
- di at mכsul dεm hεlth (Troponin test): Fכ no if di at dεn dכn afekt.
- di blכd pletlet lεvεl: Monitor fכ di blכd pletlet lεvεl dεn dכn afta tritmεnt.
Dɛn kin du ɔl dɛn tɛst ya fɔ mek shɔ se di pikin sef to di bɛst we aw i pɔsibul.
Mɛsej we dɛn kin kɛr go na os
- Elevidys na wan tɛm insay yu layf jin tɛrapi fɔ Duchenne Muscular Dystrophy (DMD). I nɔ de mɛn di sik, bɔt i de gi op fɔ mek di mɔsul dɛn wik.
- I de wok bay we i de ɛp di bɔdi fɔ mek wan shɔt we we de wok fɔ di distrofin protin .
- Dis tritmɛnt nɔ fayn fɔ ɛvri pikin we gɛt DMD. I nid fɔ gɛt patikyula jenɛtik tɛst ɛn blɔd tɛst fɔ no if pɔsin fit fɔ gɛt am.
- Dɛn kin gi dis tritmɛnt as injɛkshɔn na wan vein na ɔspitul, ɔnda dɔktɔ in sɔpɔtishɔn .
- Sɔm sayd ɛfɛkt lɛk fɔ vɔmit ɛn nɔs kin apin. Yu fɔ no bak bɔt siriɔs tin dɛn lɛk we yu blɔd nɔ gɛt bɛtɛ pletlɛt. If yu nɔ fil fayn, tɛl yu dɔktɔ wantɛm wantɛm.
- Dis na tritmɛnt we rili kɔmpleks ɛn nyu, so mek shɔ se yu tɔk bɔt ɔl di ditil dɛm wit yu pikin in dɔktɔ ɛn mek dɛn ɛksplen am.
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