Yu pikin in mɔsul dɛn de wik smɔl smɔl? Lɛ wi lan bɔt Duchenne Muscular Dystrophy!

Yu smɔl pikin bigin fɔ waka leta pas ɔda pikin dɛn? Ɔ i kin fɔdɔm ɔltɛm? Yu dɔn notis se i nɔ kin izi fɔ am fɔ grap we i sidɔm ɔ fɔ klaym stej? Dis na tin dɛn we sɔntɛnde wi nɔ kin pe atɛnshɔn tumɔs as mama ɛn papa. Bɔt sɔmtɛm dɛn kin bi di fɔs sayn dɛm fɔ wan sik lɛk Duchenne Muscular Dystrophy. So lɛ wi tɔk bɔt dis tide. Nɔ fred, di tin we impɔtant pas ɔl na fɔ no bɔt dis.

Wetin na Duchenne Muscular Dystrophy (DMD) we gɛt di sik?

Fɔ tɔk am simpul wan, ‘muscular dystrophy’ na wan grup fɔ sik dɛn we de wik mɔsul dɛn as tɛm de go ɛn ridyus dɛn fleksibiliti. di kayn we we kin apin pas ɔl na Duchenne muscular dystrophy, we wi kin kɔl DMD fɔ shɔt tɛm.

Dis na bikɔs wan jin we nɔ fayn we de ɛp fɔ mek wi mɔsul dɛn gɛt wɛlbɔdi. Tink bɔt wi mɔsul dɛn lɛk brik wɔl. Di mɔta we de ol dɛn brik ya togɛda na wan prɔtin we dɛn kɔl distrofin . pan pikin dεm we gεt DMD, di bכdi nכ de prodyuz dis distrofin protin, כ i de prodyuz sכm sכm pan am. Dɔn, lɛk wɔl we nɔ gɛt mɔta, i izi fɔ mek di mɔsul dɛn pwɛl ɛn smɔl smɔl dɛn kin wik.

Dis sik kin mɔs pan bɔy pikin dɛn . Bɔrku tɛm, di sayn dɛm kin sho wae dɛn smɔl. Fɔs, i kin at fɔ tinap, waka, ɛn klaym stej. As tɛm de go, sɔm pikin dɛn kin nid fɔ yuz wilchia. Di at ɛn di lɔng dɛn bak kin afɛkt.

Wetin na di sayn dɛm we de sho se yu gɛt dis sik? Aw yu no am?

If yu pikin gɛt DMD, yu go notis di fɔs sayn dɛn bifo i ol 6. Di mɔsul dɛn na di leg dɛn kin afɛkt fɔs. Dis na di rizin we mek dɛn pikin ya kin bigin fɔ waka leta pas ɔda pikin dɛn. Afta dɛn dɔn bigin fɔ waka, dɛn kin fɔdɔm bɔku tɛm, i nɔ kin izi fɔ dɛn fɔ grap na grɔn, ɛn i nɔ kin izi fɔ dɛn fɔ klaym stej. Afta sɔm tɛm, dɛn kin bigin fɔ wad ɔ waka na di tip dɛn na dɛn fut finga dɛn.

As di pikin de ol, i kin sho se i gɛt mɔ sayn dɛn.

Bɔt mɛmba se, DMD nɔ kin gɛt pen, ɛn i nɔ kin afɛkt di pikin in sɛns.

Aw fɔ no di sik kɔrɛkt wan?

If yu notis dɛn sik ya na yu pikin, di bɛst tin fɔ du na fɔ go to yu famili dɔktɔ kwik kwik wan. I go aks yu bɔt di sik dɛn we yu pikin gɛt. Dɔn i go chɛk di pikin ɛn if nid de, i go rifer yu fɔ mek dɛn du sɔm tɛst dɛn.

Test dɛn we dɛn fɔ du if di dɔktɔ gɛt ɛni dawt

• Blɔd tɛst: Dis kin luk mɔ pan wan ɛnzaym we dɛn kɔl Kriatin Kinase (CK) . dis CK εnzym de kכmכt na di bכdi we di mכsul dεm dεn dכn pwεl. So if di CK level rili ay, na big clue se yu get DMD.
• jin tεst: Dis tεst, we dεn kin du wit blכd sεmpl, kin kכrekt fכ no if difεkt de na di distrofin jin we de mek DMD. dis tεst kin bi fכ si if uman fambul dεm dεn tu gεt dis jin (na dεn de kכriכt di sik).
• Mɔsul bayɔpsi: .Na ya, dɛn kin tek wan rili smɔl pat pan di pikin in mɔsul wit wan rili smɔl nidul ɛn chɛk am ɔnda maykroskɔp. i kin kכnfכm if di distrofin protin de lכw in lεvεl. Bɔt bikɔs ɔf di advans jenɛtik tɛst tide, dis tɛst nɔ nid fɔ de bɔku tɛm.

Wetin na di tritmɛnt dɛn?

No mɛrɛsin nɔ de fɔ DMD yet. Bɔt bɔku fayn tritmɛnt dɛn de fɔ kɔntrol di sik dɛn ɛn protɛkt di mɔsul dɛn, at, ɛn lɔng.

• Kɔtikosterɔyd: Drug dɛm lɛk Prednisone ɛn Deflazacort kin ɛp fɔ kɔntrol di mɔsul dɛm we de pwɛl bɔku bɔku wan. Pikin dεm we de tek dεn drog ya kin waka fכ 2-5 ia pas dεn wan dεm we nכ de tek. Dɛn kin ɛp bak fɔ mek di at ɛn di lɔng dɛn wok fayn fayn wan.
• Mɔdan Mɛdisin: Tide, dɛn dɔn bigin fɔ yuz bɔku tritmɛnt dɛn we dɛn kin yuz fɔ mɛn pipul dɛn, i dipen pan di kayn we aw di jɛnɛtiks nɔ fayn we kin mek pɔsin gɛt DMD. Sɔm pan di drɔgs dɛn na Eteplirsen, Golodirsen, ɛn Casimersen. dis dεm de εp fכ mek di distrofin protin we nכ de kam bak to wan sכm lεvεl.
• jin tεrapi: (Delandistrogene moxeparvovec - Elevidys) na di fכs jin tεrapi we dεn apruv fכ dis. i involv fכ gi di bכdi כda protin we de tek pat pan di wok we di distrofin protin de du. Dɛn tritmɛnt ya stil rili nyu ɛn dɛn dia.
• Advays fɔ dɔktɔ we de mɛn dɛn at: Pikin dɛn we gɛt DMD kin gɛt at prɔblɛm, so i impɔtant fɔ mek dɛn chɛk dɛn ɔltɛm to dɔktɔ we de mɛn dɛn at . Sɔm blɔd prɛshɔn mɛrɛsin kin ɛp fɔ protɛkt di at mɔsul.
• Fisiotɛrapi: Ɛksesaiz ɛn strɛch kin ɛp fɔ mek di mɔsul ɛn jɔyn dɛn nɔ chenj. I impɔtant fɔ aks fɔ advays frɔm fisiotɛrapist fɔ dis.
• Ɔpreshɔn: Sɔntɛnde, i kin nid fɔ du ɔpreshɔn fɔ kɔrɛkt di tayt mɔsul dɛn (kɔntrakt) ɛn fɔ kɔrɛkt di kɔba we di spayna kɔba (skɔliosis).

Tin dɛn we una kin du as mama ɛn papa

Na nɔmal tin fɔ fil bad we yu kam fɔ no se yu pikin gɛt sik lɛk DMD. Bɔt mɛmba se we yu gɛt dis sik nɔ min se yu pikin nɔ go ebul fɔ go skul, ple wit in padi dɛn, ɔ gladi. If yu fala di rayt tritmɛnt plan, yu kin ɛp yu pikin fɔ liv aktif layf.

• Ɛp dɛn fɔ tinap ɛn waka as yu ebul: Dis kin ɛp fɔ mek dɛn bon dɛn strɔng ɛn dɛn spayna stret. If nid de, yu kin yuz divays dεm lεk `braces` כ `standing walkers`.
• Gi gud it:No patikyula it nɔ de fɔ DMD. Bɔt fɔ it fayn fayn it kin ɛp fɔ kɔntrol yu wet ɛn fɔ mek yu nɔ gɛt tin dɛn lɛk kɔnstipɛshɔn. Tɔk to pɔsin we sabi bɔt it fɔ mek wan it plan we go fayn fɔ yu pikin.
• Kip aktiv: Aks advays frɔm pɔsin we de mɛn yu pikin ɛn du ɛksesaiz dɛn we sef we nɔ go mek di mɔsul dɛn strɛs.
• Bi trɛnk bak: We yu tɔk to ɔda famili dɛn we gɛt pikin dɛn lɛk dis ɛn tɛl yu bɔt ɛkspiriɛns dɛn, dat go mek yu gɛt bɔku trɛnk. Join sɔpɔt grup dɛn fɔ dat. If nid de, nɔ shem fɔ go to pɔsin we de stɔdi bɔt pɔsin in maynd fɔ ɛp yu.

Fɔ dɔn, layf wit DMD na chalenj. Bɔt if dɛn trit dɛn pikin ya di rayt we, dɛn de trit dɛn bɔdi fayn, dɛn de it tin dɛn, ɛn dɛn de kia fɔ dɛn wit lɔv, dɛn go ebul fɔ liv fayn layf lɛk ɔlman na di sosayti tide. Wi ɔl gɛt op se we sayɛns de go bifo, ivin bɛtɛ tritmɛnt dɛn go kɔmɔt tumara bambay.