Ɛnibɔdi na yu famili gɛt Danon Disease? Lɛ wi tɔk bɔt am!

Yu don eva yehri boht Danon Disease? Dis nem kin bi nyu tin to yu smɔl. Na wan sik wae nɔr kin bɔrku, wae kin kam pan pɔrsin in jɛnɛtiks, wae nɔr kin ambɔg bɔrku pipul dɛm. Bɔt i fayn fɔ mek wi no bikɔs i kin afɛkt di at, di mɔsul dɛn, di yay, ɛn ivin di bren. Lɛ wi tɔk bɔt am ditayli tide.

Wetin na Danɔn Sik?

Fɔ tɔk am simpul wan, Danon Disease na wan sik wae nɔr kin bɔrku wae kin pas tru wi jin dɛm frɔm jɛnɛreshɔn to jɛnɛreshɔn. I kin pwɛl difrɛn pat dɛn na wi bɔdi, mɔ di at, di mɔsul dɛn, di retina, ɛn di bren . Bɔt nɔto ɔlman go gɛt di sem kayn sik, i kin difrɛn frɔm wan pɔsin to ɔda pɔsin.

Danon Disease de pan wan big grup fɔ sik dɛm we dɛn kɔl ‘Lysosomal Storage Disorders’ (LSD). I pas 50 kayn sik dɛn we de ɔnda dis grup. imajin, insay wi sεl dεm pat dεm de lεk sכm sכm fכktri dεm we dεn kכl ‘laysosom dεm’. di men wok we dεn tin ya de du na fכ brok εn klin di tin dεm we nכ nid εn west we de kכmכt insay di sεl dεm. I tan lɛk se wi de pul di dɔti we de na wi os.

So, di sεl dεm fכ pכsin we gεt dis ‘Lysosomal Storage Disorder’ nכ kin ebul fכ du dis wok fayn fayn wan. Wetin kin apin da tɛm de? Dɛn tin dɛn de we wi nɔ want, we na pɔyzin, kin bigin fɔ gɛda insay di sɛl dɛn. As tɛm de go, dɛn pɔyzin ya we kin gɛda kin pwɛl di sɛl dɛn ɛn tru dɛn kin pwɛl di ɔgan dɛn. Dis na wetin kin apin pan Danon sik.

Dis sik na tin we pɔsin kin gɛt frɔm dɛn mama ɛn papa . Dis min se i kin pas frɔm mama ɛn papa to pikin dɛn. Mɔtalman, bɔy pikin dɛn kin gɛt dis sik ɛn gɛt mɔ bad bad sayn dɛn pas gyal pikin dɛn.

Wetin na di sayn dɛm fɔ Danon Disease?

Pan ɔl we de sayn dɛm fɔ Danon Disease kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin, sɔm men sayn dɛm de wae yu kin si:

• Cardiomyopathy: Dis na di fɔs sayn we de sho. I kin bi se yu chɛst de pen ɔ yu tayt, yu taya, yu de flɔt ɔ yu de nak yu chɛst. Sɔntɛnde, yu nɔ kin blo fayn ɛn yu kin swel na yu leg dɛn bak.
• Mɔsul wik (Myopathy): Imajin, i nɔ kin izi fɔ yu fɔ sidɔm na chia, waka, ɔ yu kin fil wik na yu bak, yu nɛk, yu sholda, yu ɔp an, ɔ yu ɔp leg. If yu na smɔl pikin, yu nɔ go lɛk fɔ rɔn ɛn ple, ɔ i nɔ go izi fɔ yu fɔ klaym stej. Dis na sayn dɛm wae de sho se yu mɔsul dɛn wik.
• Ay prɔblɛm (Retinopathy): Dis kin mek yu nɔ de si fayn, yu yay nɔ de flɔt, ɔ yu layt de flash. Dis kin mek i nɔ izi fɔ rid ɔ wach TV.
• Intɛlektual disabiliti: Dɛn tin ya kin apin mɔ pan bɔy pikin dɛn. Prɔblɛm fɔ biev, lɛk fɔ chenj di we aw pɔsin de biev we i de nia ɔda pipul dɛn, ɛn fɔ delay fɔ tɔk ɔ fɔ tɔk langwej, na tin dɛn we kin apin. Pan ɔl we i nɔ kin apin so ɔltɛm, saykayatrik prɔblɛm kin apin bak. Sɔm ɛgzampul dɛn na we i nɔ kin izi fɔ pe atɛnshɔn pan skul wok ɛn i kin slo fɔ lan nyu tin dɛn.

Aw wɛda man ɔ uman kin afɛkt

Na bɔy pikin dɛn, di sayn dɛn kin bigin fɔ sho we dɛn yɔŋ, dat na we dɛn smɔl ɔ we dɛn yɔŋ . Ɛn bɔku tɛm dɛn sik ya kin go bifo kwik kwik wan ɛn dɛn kin tranga.

Bɔt we yu luk gyal pikin dɛn, sɔntɛnde, dɛn nɔ kin gɛt ɛni sayn atɔl. Ɔ, di sayn dɛm kin apia na di let adolescent ɔr early adult. Di sayn dɛm na gyal pikin kin kam sloslo, ɛn bɔku tɛm dɛn nɔ kin rili bad. Bɔt i impɔtant fɔ mɛmba se sɔm tɛm dɛn kin tranga.

Di kayn we aw pɔsin kin gɛt di sik we dɛn kɔl Cardiomyopathy

Tu men kayn kardiomyopathy de wae dɛn kin si pan Danon Disease:

• Hypertrophic Cardiomyopathy: Dis na di kayn we we dɛn kin gɛt mɔ. Fɔ tɔk am simpul wan, na we di at mɔsul de tik we nɔmal.
• Dilated Cardiomyopathy: Dis kin apin mɔ pan uman dɛn. dis na di say we di at chεmba dεm de big εn di at de wik.

Wetin na de tin wae kin mek pɔrsin gɛt Danon Disease?

di men kכz fכ Danon Disease na chenj, כ m כtεshכn, insay wan spεsifi k jin we dεn kכl `LAMP2`. As yu no, na di jin dɛn de kɔntrol ɔltin na wi bɔdi. Jɔs lɛk sɔftwɛl we de na kɔmpyuta, dɛn jin ya de sho bak aw wi bɔdi de wok.

so, di wan dεm we de du risach biliv se we chenj de na dis `LAMP2` jin, sכm prכblεm de wit di wכl כ mεmbran na di sεl pat we dεn kכl di laysosom we a bin tכk bכt. Bɔt dɛn stil nɔ ɔndastand klia wan 100 pasɛnt bɔt di rayt we aw dis sik kin apin. Risach stil de go bifo pan dat.

Aw dɛn kin no se pɔsin gɛt Danon Disease?

If yu ɔ yu dɔktɔ notis di sayn dɛm fɔ Danon Disease, dɛn kin saspek am. Dɔn yu dɔktɔ go aks yu bɔt yu sik dɛn. Apat frɔm dat, dɛn go du sɔm tɛst fɔ kɔnfɔm Danon Disease ɛn pul ɔda kɔndishɔn dɛn.

di men tin we dεn de du DNA tεst (jεnεtik tεst) de εp fכ no dis sik. dis kin kכrekt fכ no if mכtεshכn de insay di `LAMP2` jin.

Dipen pan yu sik, yu dɔktɔ kin tɛl yu fɔ du ɔda tɛst. Fɔ ɛgzampul:

• Blɔd tɛst (Laboratory (blɔd) wok).
• Wan ay ɛgzam.
• Wan ɔltra saund.
• CT skan (kɔmpyuta tomografi skan) tɛst.
• MRI (magnɛtik rɛsɔnans imej) tɛst.
• Skel mכsul bayopsi ( dεn tek wan sכm mכsul εn egzamin).

Spɛshal at tɛst dɛn de bak fɔ si aw di at de wok fayn:

• hat bayopsi - kadyak bayopsi (we yu tek sכm sכm pat pan di at fכ egzamin).
• MRI fɔ di at.
• wan ECG (Electrocardiogram - EKG) tεst (we de rεkכd di ilektrikal aktiviti fכ di at).

Us ɔda tin dɛn we tan lɛk Danon Disease?

Sɔm mɛrɛsin kin de wae de sik kin tan lɛk Danon Disease. Na dat mek i impɔtant fɔ gɛt kɔrɛkt diagnosis. Na sɔm sik dɛn ya we gɛt di sem kayn sayn:

• Di sik we dɛn kin bɔn wit glycogen storage (GSD) na di at.
• Infantil ɔtofajik vakuolar mayopati.
• Ɔda kadiomayopathi dɛm, fɔ ɛgzampul sarkomɛrik haypatrɔfik kadiomayopathi ɔ dilated kadiomayopathi.
• Pompe sik we dɛn kɔl Pompe.
• Wolff-Parkinson-White (WPW) syndrome – sɔmtɛm yu kin si dis togɛda wit Danon sik.
• X-linked myopathy wit pasmak ɔtofagi.

Dis kin tan lɛk se i kɔmplikt smɔl, bɔt dɔktɔ dɛn kin tink bɔt ɔl dɛn tin ya ɛn dɛn kin no di kɔrɛkt tin bɔt di sik.

Wetin na di tritmɛnt fɔ Danon Disease?

Di tritmɛnt fɔ Danon Disease dipen pan yu symptom ɛn aw dɛn kin tranga. Yu mɛdikal tim go wok wit yu fɔ mek wan tritmɛnt plan we go bɛtɛ fɔ yu. Dis kin inklud:

• Di tin dɛn we pɔsin kin yuz fɔ ɛp pɔsin: Fɔ ɛgzampul, ayglas ɔ ɔda tin dɛn we de ɛp pɔsin fɔ si, tin fɔ ɛp pɔsin fɔ yɛri, pɔsin we de waka, ɔ wilchia.
• Saykotɛrapi - tɔk tɛrapi ɔ tɔk tɛrapi.
• If pipul dɛn de we nɔ ebul fɔ lan, dɛn gɛt sɔpɔt fɔ lan buk.
• Fizik tɛrapi fɔ mek di mɔsul dɛn strɔng.

Fɔ at prɔblɛm, yu spɛshal dɔktɔ kin tɛl yu fɔ du tin lɛk:

• Dɛn kin yuz wan implantable cardioverter defibrillator (ICD) fɔ trit di at ritm irɛgyulariti (arithmia).If dis mek di at bit nɔ de bit wantɛm wantɛm, dɛn kin kɔrɛkt am.
• Wan Holter monita fɔ rikodɔ yu at aktiviti ɔl di de.
• Mɛrɛsin fɔ kɔntrol at prɔblɛm, mɔ di wan dɛn we gɛt di sik we dɛn kɔl cardiomyopathy.
• Tritmɛnt dɛm lɛk ablashɔn tɛrapi fɔ trit di at ritm dɛm we nɔ de ɔltɛm.

If di kadiomayopathy de wɔs kwik kwik wan, i kin nid fɔ transplant di at . Fɔ no di sik kwik kwik wan ɛn fɔ trit am impɔtant fɔ mek yu nɔ gɛt prɔblɛm dɛn we go mek yu layf de pan denja lɛk we yu at day wantɛm wantɛm ɛn we yu at pwɛl kwik kwik wan .

Udat kin de na mi tritmɛnt tim?

We yu de trit Danon Disease, wan dɔktɔ nɔ go du fɔ yu. I nid fɔ gɛt wan tim we gɛt spɛshal pipul dɛn. Dɛn spɛshal pipul ya kin wok wit yu Praymari Keya Prɔvayda (PCP) fɔ ɛp yu. Yu tim kin gɛt:

• Cardiologist: Na spɛshal pɔsin we sabi bɔt di at ɛn di blɔd vesel dɛn.
• Spɛshal pipul dɛn we de kia fɔ di yay / Ɔftalmɔlɔjis: Fɔ prɔblɛm dɛn we gɛt fɔ du wit di yay.
• Geneticist: Na pɔsin we spɛshal pan jenɛtiks.
• Nyurolɔjis: Na dɔktɔ we spɛshal pan di bren, spɛshal kɔd, ɛn di nerv dɛn.
• Nyuromɔskul ɛkspɛkt: Na spɛshal pɔsin we sabi bɔt mɔsul ɛn nerv dɛn.

Dipen pan yu wɛl bɔdi kɔndishɔn ɛn di sayd ɛfɛkt dɛm wae yu kin gɛt, dis mɛdikal tim go wach yu mɛrɛsin ɛn tritmɛnt dɛm ɛn mek ɛni chenj we yu nid.

Yu tink se dɛn kin mɛn Danon Disease?

Bɔt i sɔri fɔ no se, no mɛrɛsin nɔ de fɔ Danon Disease. Bɔt yu dɔktɔ kin tɛl yu fɔ du tritmɛnt wae go ɛp fɔ kɔntrol yu sik ɛn fɔ mek yu gɛt wɛl bɔdi ɛn kwaliti layf na di ay ay levul. So di tin we impɔtant pas ɔl na fɔ fala yu dɔktɔ in advays ɛn nɔ panik.

Wetin na de lukin-grɔn fɔ Danon Disease?

De luk fɔ Danon Disease, dat na aw de sik go afɛkt yu, de dipen pan sɔm tin dɛm. Dɛn tin ya na wetin yu de si, aw dɛn kin tranga, ɛn aw de sik kin go bifo kwik kwik wan. Yu dɔktɔ go advays yu fayn fayn wan bɔt yu patikyula sik.

Danon Disease ɛn Layfspan

Na avrej, di layf we man dɛn we gɛt Danon Disease kin liv na lɛk 19 ia, ɛn uman dɛn kin liv lɛk 34 ia. Bɔku pipul dɛn nid fɔ gɛt at transplant. Na nɔmal tin fɔ mek yu fil fred we yu si dɛn statystik ya. Bɔt mɛmba se dɛn tin ya na jɔs avrej. Ɔlman difrɛn.

Yu mɛdikal tim go wok wit yu fɔ kɔntrol yu sik dɛn. Dɛn go tich yu bak bɔt usay yu ɛn yu famili go gɛt di sɔpɔt we yu nid.

A kin ridyus di risk fɔ mek mi pikin gɛt Danon Disease?

Danon Disease na bikɔs ɔf wan jenɛtik mutation. So, natin nɔr de we yu go du fɔ ridyus yu pikin in risk fɔ gɛt dis sik. If pɔsin na yu famili gɛt Danon Disease, i go fayn fɔ mek yu tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks bifo yu bɔn, we dɛn kin du we yu gɛt bɛlɛ .

Udat fɔs kam fɔ no bɔt Danon Disease?

Na wan Amɛrikin nyurolɔjis we nem Mɔris Danɔn, MD , bin tɔk bɔt dis sik fɔ di fɔstɛm insay 1981. I bin kam fɔ no dɛn tin ya afta we i bin dɔn chɛk tu yɔŋ pipul dɛn we gɛt prɔblɛm wit dɛn maynd, dɛn at bin big (kardiomegaly), ɛn dɛn mɔsul dɛn wik (proximal myopathy).

Fɔ no se yu gɛt wan rare jenɛtik kɔndishɔn lɛk dis kin rili tranga ɛn i kin tranga. As yu bigin fɔ liv wit dis sik, tray fɔ tek am ɛvride. Gɛt sɔpɔt frɔm yu mɛdikal tim, padi dɛn, ɛn fambul dɛn. Bikɔs dis sik nɔ kin bɔku, yu kin nid fɔ tɛl ɔda pipul dɛn bɔt am bak. Ivin na di Intanɛt, i kin at fɔ fɛn ɔda pipul dɛn we gɛt di sem kayn prɔblɛm. Bɔt yu kin gɛt sɔpɔt na grup dɛm wae de kam togɛda wit di sik pipul dɛm ɛn famili dɛm wae gɛt ɔda sik dɛm wae nɔr kin bɔrku ɔr hat sik.

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

Danon Disease na wan sik wae nɔr kin izi fɔ gɛt. Bɔt, mɛmba dɛn tin ya:

• Danon Disease na wan sik we pɔsin kin gɛt we i kam pan jɛnɛtiks. Nɔto ɛnibɔdi in fɔlt.
• Di sayn dɛm nɔr kin di sem fɔ ɔlman. Difrɛns de bitwin man ɛn uman.
• I rili impɔtant fɔ no di sik kwik kwik wan ɛn bigin fɔ trit am. Dis kin ridyus di prɔblɛm dɛn we kin apin.
• Pan ɔl we dɛn nɔ go ebul fɔ mɛn dis sik ɔltogɛda, tritmɛnt dɛn de we go ebul fɔ kɔntrol di sayn dɛm.
• Nɔto yu wan de. Wan tim we sabi du dɔktɔ, famili, ɛn sɔpɔt grup dɛn de fɔ ɛp yu.
• Fɔ advays dɛn bɔt di jɛnɛtiks kin rili impɔtant fɔ famili dɛn.

If yu fala di tritmɛnt dɛn we yu dɔktɔ dɛn se ɛn ɔnda dɛn gayd, yu go ebul fɔ liv di bɛst layf. Wi op se dis infɔmeshɔn go ɛp yu.

`Danon sik, Danon sik, jεnεtik sik, at sik, Kadyomayopathy, mכsul wik, Lysosomal Storage Disorder, LAMP2 jin