Yu bɔy pikin gɛt dɛn prɔblɛm dɛn ya? Lɛ wi tɔk bɔt di sik we dɛn kɔl Barth Syndrome!

I at fɔ tɔk bɔt di ebi ebi filin dɛn we wi kin fil as mama ɛn papa we wi smɔl pikin dɛn sik, nɔto so? Ɛspɛshali if na wan sik wae nɔr kin bɔrku ɛn wae kin kɔmplikt, de frayd wae de na wi at kin bɔrku mɔr. Tide wi go tɔk bɔt dis kayn tin we nɔ kin apin so ɔltɛm, bɔt i rili impɔtant fɔ mek ɔlman no bɔt am. Dɛn kɔl dis wan sik we dɛn kɔl Barth Syndrome.

Wetin na di sik we dɛn kɔl Barth Syndrome? Lɛ wi ɔndastand am simpul wan!

Fɔ tɔk am simpul wan, di sik we dɛn kɔl Barth syndrome na wan sik we nɔ kin apin so ɔltɛm . Bɔku tɛm dɛn kin si am pan bɔy pikin dɛn . Dis sik kin afɛkt sɔm impɔtant pat dɛn na di pikin in bɔdi. Di men wan dɛn na:

• Bɔn mɛrɔ
• At
• Imyun sistɛm
• Mɔsul dɛn

Tink bɔt am, wi bɔdi tan lɛk kɔmpleks mashin we gɛt bɔku pat dɛn we de wok togɛda. So we sɔm impɔtant tin dɛn afɛkt, di pikin in nɔmal divɛlɔpmɛnt ɛn wɛlbɔdi kin sɔfa difrɛn we dɛn.

Yu nɔ tink se gyal pikin dɛn kin gɛt Barth syndrome?

Dis na prɔblɛm we bɔku pipul dɛn gɛt. Infakt, di chans fɔ mek gyal pikin gɛt di sik we dɛn kɔl Bath syndrome rili smɔl . Bɔku tɛm, gyal pikin dɛn we gɛt di jin muteshɔn we de mek di sik nɔ kin sho di sayn dɛn. Dɛn kɔl dɛn "kɛriɔ." Dis min se dɛn nɔ gɛt di sik, bɔt dɛn kin pas di jin to dɛn pikin dɛn. In ɔda wɔd dɛn, i kin izi fɔ lɛ bɔy pikin gɛt di sik.

Aw dis sik kin kɔmɔn?

Barth syndrome na wan sik we nɔ kin apin so ɔltɛm . Statistikin sho se dɛn kin ripɔt dis sik pan lɛk wan pan ɛvri 300,000 pikin dɛn we dɛn bɔn. So sɔntɛm yu nɔ go yɛri bɔku tin bɔt am. Bɔt pan ɔl we i nɔ kin bɔku, i rili impɔtant fɔ no bɔt am.

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Barth syndrome?

di men tin we kin mek dis apin na we di jin we dεn kכl Tafazzin (TAZ) . dis jin we dεn kכl TAZ de na di X kromozom. as yu no, di X kromozom na sכmtin we gεt bכku inflכεns pan di bכdi divεlכpmεnt.

wan pan di men wok dεm we di TAZ jin de du na fכ dayrεkt di prodakshכn fכ wan protin we di maytochכndria , di sכm sכm pawa plant dεm we de insay wi sεl dεm we de prodyuz enεji, nid. dis maytochכndria dεm de involv bak fכ mek di bon dεm gro.

so, we mכtεshכn de na di TAZ jin, di protin we i de mek nכ de wok fayn. dis min se di maytochכndria dεm nכ gεt inof enεji, כ "fכl," fכ wok. Dis kin mek di tisu dɛn we nid mɔ ɛnaji —lɛk di at, di mɔsul dɛn, ɛn di imyun sistɛm—nɔ kin ebul fɔ wok fayn. Dis na di besik bayolojikal εksplen fכ Barth syndrome.

Wetin na di sayn dɛm wae de sho se yu gɛt Barth syndrome?

De sayn dɛm fɔ Barth syndrome kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Dɔn bak, aw dɛn sik ya kin tranga kin difrɛn. Sɔm sayn dɛm wae kin kam pan pɔrsin na:

• di lεvεl dεm we nכ de εlevεt 3-methylglutaconic aciduria, we na כrganik asid, na di urine.
• Dilated cardiomyopathy na wan sik we di lכw chεmba dεm na di at kin big, we min se di at mכsul kin wik εn strεch. Dɔktɔ dɛn kɔl dis dilated cardiomyopathy .
• Baktri infekshɔn dɛn we kin kam bɔku tɛm . Di rizin fɔ dis na di wik imyun sistɛm.
• Dilay growth : I kin shɔt ɛn we nɔ kin wet pas ɔda pikin dɛn we gɛt di sem ej.
• We di at mɔsul wik. Dɛn kɔl dis kadyomayopati .
• Di nɔmba fɔ di nyutrofil, we na wan kayn wayt blɔd sɛl, we de na di blɔd, de go dɔŋ. Dɛn kɔl dis sik nyutropenia . Dis kin mek yu gɛt infɛkshɔn mɔ.
• Chɛst dɛn we de sho klia wan.
• Lack of muscle tone, wan filin fɔ mek yu fil fayn. Dɛn kɔl dis hypotonia .
• Wik we di skel mכsul dεm we de εp wi fכ muv wi bכdi. Dɛn kɔl dis skel mayopathy .

Aw kwik dɛn sayn ya kin apin?

Bɔku tɛm, dɛn kin si dɛn sayn ya we dɛn bɔn pikin . Bɔt pan sɔm pikin dɛn, dɛn sik ya kin apin sɔm mɔnt afta dɛn bɔn dɛn. So, as mama ɛn papa, wi fɔ bisin ɔltɛm bɔt aw wi pikin de gro ɛn in wɛlbɔdi.

Wetin na di prɔblɛm dɛn we kin kam wit di sik we dɛn kɔl Barth syndrome?

Pikin dɛm wae gɛt dis sik kin gɛt difrɛn kayn prɔblɛm dɛm, lɛk:

• I nɔ izi fɔ it ɛn we i nɔ de it fayn .
• Dayrɛa we kin kam bɔku tɛm.
• Ɛd we de at ɛn bɔdi we de at.
• Di shuga we de na di blɔd we nɔ bɔku, dat na , di shuga we de na di blɔd we nɔ gɛt bɛtɛ blɔd .
• Di bon dɛn we de tan ɛn wik, dat na ɔstioporosis .
• Unusually taya, fil taya ( taya ).
• Mild learning disabilities , mɔ pan sɔbjɛkt dɛm lɛk matematiks.
• כlsa na yu mכt (kanker sores) kin apin bכku tεm.

Dɛn kɔmplikeshɔn ya nɔ kin apin to ɔlman di sem we, bɔt fɔ no bɔt dɛn kin ɛp yu fɔ bigin tritmɛnt kwik.

Aw dɛn kin no se pɔsin gɛt di sik we dɛn kɔl Barth syndrome? (Diagnosis) .

If dɛn no di fɔs sayn dɛm fɔ di pikin we gɛt di sik kwik kwik wan, dɛn kin bigin fɔ trit di pikin kwik kwik wan. Dis kin ɛp fɔ kɔntrol aw di sik dɛn de go bifo ɛn fɔ mek dɛn nɔ gɛt prɔblɛm dɛn.

Sɔntɛm dɛn kin nid fɔ du bɔku tɛst fɔ no di sik kɔrɛkt wan. Fɔ ɛgzampul:

• Test we min fɔ tek wan smɔl pat pan di at mɔsul ɔ ɔda mɔsul tisu. Dɛn kɔl dis bayɔpsi.Dɛn kɔl wan pan dɛn dis. dis de chεk fכ difεkt dεm na di maytochכndria εn כda abnכmaliti dεm.
• Echocardiogram test fɔ chɛk aw di at de wok.
• Jεnεtik tεst fכ kכnfכm di jεnεtik mכtεshכn we de mek Barth sεndrכm.
• di tεst dεm fכ di urine we de sho se di כrganik asid dεm de insay di urine εn di lכw lεvεl dεm na di imyun sistεm sεl dεm (sεf di nyutrofil dεm).

Aw a go no if mi pikin nid fɔ gɛt tɛst fɔ no if i gɛt di sik we dɛn kɔl Barth syndrome?

If yu pikin gɛt sayn dɛn we de sho se i nɔ de gro fayn ɛn i gɛt sɔm sayn dɛn we gɛt fɔ du wit di at mɔsul dɛn we wik (cardiomyopathy) , ɛn dɔktɔ dɛn nɔ ebul fɔ fɛn klia rizin, dɛn kin se dɛn fɔ tɛst fɔ no if i gɛt Barth syndrome. Di sayn dɛm fɔ kardiomyopathy kin bi we yu gɛt diziz, yu at nɔ de bit ɔltɛm ( arrhythmia ), ɛn yu de yɛri at sawnd we nɔr fayn ( at murmur ).

Wetin na di tritmɛnt fɔ di sik we dɛn kɔl Barth syndrome?

Dis na di big prɔblɛm we bɔku pipul dɛn gɛt. Fɔ tɔk tru, no mɛrɛsin nɔ de yet fɔ mɛn di sik we dɛn kɔl Barth syndrome . Bɔt nɔ wɔri. Di men gol fɔ tritmɛnt na fɔ mek dɛn nɔ gɛt prɔblɛm dɛn ɛn trit dɛn . Dis kin ɛp fɔ mek di pikin kɔntinyu fɔ liv fayn layf as i pɔsibul. Di pikin kin nid tritmɛnt lɛk:

• Antibayɔtik fɔ infɛkshɔn.
• Drɔg dɛn we de mek wayt blɔd sɛl dɛn kɔmɔt.
• Mɛrɛsin fɔ kɔntrol at prɔblɛm. Sɔm ɛgzampul dɛn na ACE inhibitors, diuretics, ɛn beta-blockers .
• Fizik tɛrapi ɛn ɔkupeshɔn tɛrapi fɔ sakrifays fɔ bia wit di chalenj dɛm wae de kam wit bɔdi divɛlɔpmɛnt.
• If di at pwɛl bad bad wan, i kin ivin nid fɔ mek dɛn transplant di at .

Di tin we impɔtant pas ɔl na fɔ gi ɔl dɛn tritmɛnt ya as i fayn fɔ ɛni pikin, bay di advays we dɔktɔ gi.

Wetin ɔda tin impɔtant fɔ no bɔt di tritmɛnt we dɛn kɔl Barth syndrome?

I impɔtant fɔ mek yu de chɛk yu pikin ɔltɛm fɔ wach aw yu pikin de du di tritmɛnt. Di tin dɛn we yu pikin nid fɔ kia fɔ kin chenj as tɛm de go. Dɛn chɛk-ap ya ɔltɛm kin mek am izi fɔ chenj di tritmɛnt bifo prɔblɛm dɛn kam.

Dɛn tɛst ya kin gɛt bak blɔd tɛst (lab tɛst) fɔ chɛk aw di imyun sistɛm de wok. If di nyutrofil lɛvɛl smɔl, dɛn kin gi antibayɔtik fɔ mek i nɔ gɛt di sik.

Yu tink se dɛn go ebul fɔ protɛkt di sik we dɛn kɔl Barth syndrome?

Barth syndrome na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks . Dis min se na tin we pɔsin kin gɛt frɔm dɛn gret gret granpa dɛn. So, pikin we gɛt Barth syndrome go gɛt am fɔ di res ɔf in layf.

Bɔt if yu de tink bɔt fɔ bigin famili, ɔ if yu de op fɔ gɛt ɔda pikin, ɛn sɔmbɔdi na yu famili gɛt Barth syndrome (family history), fɔ tɛst yu jɛnɛtiks kin rili ɛp yu. dis tεst kin tεl yu if yu εn yu patna na kכriכs fכ di TAZ jin mכtεshכn. If yu na pɔsin we de kɛr pikin, yu kin mit wit pɔsin we de advays yu bɔt di jenɛtiks fɔ tɔk bɔt di chans fɔ gɛt pikin we gɛt Bath syndrome.

Wetin na di layf we pipul dɛn we gɛt Barth syndrome kin liv?

Trade, di layf we pikin dɛn we gɛt dis sik kin liv kin rili shɔt. Bɔku tɛm, dɛn bin de day we dɛn smɔl bikɔs dɛn gɛt at prɔblɛm. Bɔt we dɛn no di sik kwik kwik wan ɛn trit dɛn fayn, di wan dɛn we sik kin liv lɔng naw . We sayɛns dɔn go bifo, bɔku pipul dɛn naw de liv te dɛn ol lɛk 40 ia so, ɛn sɔntɛnde dɛn kin ivin liv lɔng pas dat. Wi op bak se dɛn go fɛn nyu tritmɛnt dɛn tumara bambay.

Aw i tan lɛk fɔ liv wit di sik we dɛn kɔl Bath syndrome?

Di sik we dɛn kɔl Barth syndrome kin afɛkt di we aw pikin de gro. Bɔku pikin dɛn kin bɔn smɔl ɛn dɛn kin shɔt we dɛn dɔn big.

We di mɔsul dɛn wik ɛn ɔda prɔblɛm dɛn kin mek di bɔdi nɔ ebul fɔ gro fayn. Fɔ ɛgzampul, i nɔ kin izi fɔ dɛn fɔ kray, waka, ɛn fɔ balans. Dɛn kin fil bak taya izi wan, mɔ afta dɛn dɔn du dɛn bɔdi wok.

Bɔt, di sik we dɛn kɔl Barth syndrome nɔ kin afɛkt di pikin in sɛns . Bɔt smɔl prɔblɛm dɛn kin de we pɔsin kin sɔlv prɔblɛm dɛn we gɛt fɔ du wit matematiks ɔ fɔ ɔndastand sɔm tɔpik dɛn. So, dɛn kayn pikin dɛn de nid spɛshal atɛnshɔn ɛn sɔpɔt.

Aw a go ɛp mi pikin fɔ kɔntrol di at prɔblɛm dɛn we Bath syndrome kin kam wit?

If pɔsin fala di we aw i de liv in layf fayn, dat kin mek di pikin in at nɔ strɛs te i rich sɔm mak.

• Gi yu it we gɛt wɛlbɔdi .
• Limit wata lɛk aw yu dɔktɔ tɛl yu.
• Ɛnkɔrej yu fɔ du tin dɛn we yu nɔ go ebul fɔ du wit yu bɔdi . Bɔt i impɔtant bak fɔ gi dɛn bɔku tɛm fɔ rɛst afta dɛn dɔn du dɛn kayn tin dɛn de. Tink bɔt tin dɛn lɛk fɔ waka fɔ shɔt tɛm ɔ fɔ ple gem sloslo.

Fɔ dɔn, mɛsej we yu kin kɛr go na os

Barth Syndrome na wan sik wae de kam pan pɔrsin wae gɛt dis sik wae de afɛkt di at, di imyun sistɛm, di mɔsul dɛm, ɛn ɔda tin dɛm. I kin afɛkt bɔy pikin dɛn mɔ. Di sayn dɛm kin sho we dɛn bɔn am ɔ jɔs afta dat. Pan ɔl we at prɔblɛm kin mek pikin dɛn we gɛt Bath Syndrome liv shɔt, dis nɔ kin apin igen.

Pan ɔl we no patikyula mɛrɛsin nɔ de fɔ dis, if yu no di sik kwik kwik wan ɛn trit am fayn, dat kin mek yu nɔ gɛt prɔblɛm dɛn ɛn i kin mek yu liv bɛtɛ layf.

So, if yu tink se yu pikin gɛt dɛn sik ya, nɔ panik, ɛn go to dɔktɔ we sabi du in wok kwik kwik wan. Na bikɔs ɛvri sɛkɔn fayn fɔ du am.

` Barth syndrome, jεnεtik sik, pikin sik, at sik, imyun sistεm, mכsul wik, TAZ jin