Yu pikin gɛt dɛn sik ya? Lɛ wi tɔk bɔt Ataxia-Telangiectasia (AT)!

Yu smɔl pikin kin stɔp pas ɔda pikin dɛn we i de waka, ɔ i kin tan lɛk se i nɔ kin izi fɔ mek i balans? Sɔntɛnde, i kin gɛt smɔl smɔl rɛd spayda wɛb dɛn na in yay wayt ɔ na in chɛst? dis na sכm sכm tin dεm we wi kin ignore, bכt dεn kin bi fכs sayn dεm fכ wan rare jεnεtik kכndyushכn we dεn kכl `Ataxia-Telangiectasia (AT). So, pan ɔl we dis na tɔpik we kɔmplikt smɔl, lɛ wi tɔk bɔt am simpul wan we yu go ɔndastand.

Wetin rili na `Ataxia-Telangiectasia (AT)`?

Fɔ tɔk am simpul wan, `Ataxia-Telangiectasia (AT),` we sɔm pipul dɛn kin kɔl bak `Louis-Bar Syndrome,` na wan jɛnɛtik kɔndishɔn we nɔ kin apin so ɔltɛm we kin afɛkt wi nervɔs sistɛm, di nɛtwɔk we de kɛr mɛsej frɔm di bren, spɛshal kɔd, ɛn ɔlsay na di bɔdi, ɛn di imyun sistɛm, we de protɛkt wi bɔdi frɔm sik.

Dis na `(nyurodijenεraytiv)` kכndishכn. Dat min se as tɛm de go, di sɛl dɛn na wi nervɔs sistɛm kin wik smɔl smɔl, ɛn dɛn nɔ kin wok igen. Tink bɔt am lɛk se mashin we bin de wok fayn trade kin ol smɔl smɔl, ɛn di pat dɛn kin west ɛn stɔp fɔ wok. we dεn nεv sεl dεm ya wik, wan kכndyushכn we dεn kכl `(ataxia)` de apin, we di bכdi de lכs bεlε we i yכng εn di muvmεnt dεm nכ de rεgεl. Na dat mek dɛn kɔl "ataxia" dat.

Di ɔda men sayn na telangiectasia. Dis na we smɔl smɔl blɔd vesel dɛn we tan lɛk trɛd kin apia na di wayt pat na di yay, ɛn sɔntɛnde na di chɛst ɛn di yes. Bɔrku tɛm, dɛn tin ya nɔr kin fil pen, bɔt na sayn fɔ de sik.

Udat kin gɛt dis sik?

`Ataxia-Telangiectasia (AT)` de kכz fכ chenj na di jin dεm, dat na `jin mכtεshכn` . Enibodi kin get dis inherit. Bɔt aw yu go no? dis sik kin apin nכmכ if di pikin gεt mכtayt kכpi fכ dis `ATM` jin frכm di mama εn di papa. insay mεdikal, wi kin kכl dis `(autosomal recessive)` inhεrit.

Imajin se na wan kɔpi nɔmɔ dɛn mama ɛn papa dɛn ɔl tu gɛt fɔ dis jin we dɔn chenj. Dɔn dɛn nɔ go sho di sik, bikɔs dɛn nid tu kɔpi fɔ di jin we dɔn chenj fɔ mek dɛn gɛt di sik. Bɔt dɛn go bi "kɛriɔ" fɔ dis jin. So, pikin we kכmכt frכm tu mama εn papa we de kכriכnt gεt di posisibul fכ gεt כl tu di kכpi dεm fכ dis mutated jin. If dat apin, di pikin go gɛt di `AT` kɔndishɔn. akɔdin to stεtistik na Amɛrika, lɛk 1% pan di pipul dɛm na da kɔntri de de kɛr dis mutated kɔpi fɔ di `ATM` jin.

Aw kɔmɔn tin na `Ataxia-Telangiectasia (AT)`?

Dis na sik we nɔ kin apin so ɔltɛm . Ɔlsay na di wɔl, dɛn se na lɛk wan pan ɛvri 40,000 to 100,000 pipul dɛn gɛt dis sik. Dis min se i rili rare na Sri Lanka bak.

Aw dis sik kin afɛkt pikin in bɔdi?

Ataxia-Telangiectasia (AT) na wan sik we kin wɔs smɔl smɔl as tɛm de go.Dat min se di sayn dɛm kin bɔku as tɛm de go. Pikin we gɛt `AT` kin bigin fɔ sho di sayn dɛm arawnd di ej we i ol 5 ia.

De fכs sayn dεm wae de sho na prכblεm wit muvmεnt.

• We a de waka , i kin tan lɛk se mi leg dɛn de tandul ɛn a nɔ de balans igen .
• Di an ɛn fut dɛn de shek shek we nɔto fɔ insɛf.
• Di mɔsul dɛn jɔs de shek shek.
• We a de tɔk , mi wɔd dɛn kin tang, ɛn i kin tan lɛk se i nɔ kin izi fɔ mi fɔ tɔk .

As yu pikin de ol ɛn bigin fɔ yɔŋ, i kin nid tin fɔ ɛp fɔ muv, lɛk wilchia fɔ go waka. A ɔndastand se dis kin at fɔ mama ɛn papa dɛn fɔ sɔlv, bɔt i impɔtant fɔ no bɔt dis tin we de apin.

Wetin na di sayn dɛm fɔ `Ataxia-Telangiectasia (AT)`?

As wi bin dɔn tɔk bifo tɛm, tu men sayn dɛn de fɔ dis sik:

1. I at fכ kכdכna di muvmεnt dεm (ataxia) : I at fכ waka, yu nכ de lכs bεlε, εn כda tin dεm.

2. Smɔl rɛd blɔd vesel dɛn we de sho na di yay ɛn di skin (telangiectasia) : Dɛn kin si dɛn tin ya na di wayt pat na di yay, di chɛst, ɛn di yes.

apat frכm dis, yu kin si nכmba כf כda muvmεnt rεlatεd simptom dεm na di `AT` kכndishכn:

• I nɔ izi fɔ waka (dis na wan pan di men sayn dɛm we dɛn kin si fɔs).
• we yu nכ ebul fכ muv di yay dεm frכm sayd to sayd ``oculomotor apraxia`` כ abnכmal yay muvmεnt ``nystagmus``.
• Muvmɛnt dɛn we nɔ want, we de jɔk (chorea).
• Di mɔsul dɛn we de twitch (myoclonus).
• Smɔl smɔl di nerv dɛn kin lɔs (nyuropathy).
• Slurred speech : Bɔku pikin dɛn kin gɛt prɔblɛm fɔ kɔl wɔd dɛn kɔrɛkt wan ɛn yuz di rayt ɛmpɛshmɛnt we dɛn de tɔk. As a rizulyt, dεn tכk nכ de saund lεk "nכmal" tכk.
• Prɔblɛm dɛn we gɛt fɔ du wit balans .
• di growth retardation or endocrine system dysfunction: Dis kכndyushכn kin bכku bay we i de infεkshכn bכku tεm εn di chenj dεm na di growth כmon dεm.

Ataxia-Telangiectasia (AT) na sik we de mek pɔsin in imyun sistɛm wik . Dis wikɛd tin kin bɔku as tɛm de go. Di sayn dɛm we de sho se di imyun sistɛm wik na:

• Bɔrku tɛm kin gɛt krɛse sik infεkshɔn.
• Fɔ fil taya ɔltɛm (taya).
• Fɔ sik kwik kwik wan pas ɔda pipul dɛn.
• Infekshɔn bɔku tɛm ɛn wund dɛn kin wɛl sloslo.
• di risk fכ gεt kεnsar lεk `Lukemia` (blכd kεnsar) כ `Lymphoma` (kansa na di limf no dεm).
• haypasεnsitiviti to rεdyushכn εkspכzכn (e.g. X-ray).

כda simptom na we di lεvεl fכ wan protin we dεn kכl `alpha-fetoprotein (AFP)` de inkrεs na di bכdi. dεn nכ no di εksakεt kכz fכ dis inkrεs pan di `AFP` lεvεl dεm.

Wetin kin mek pɔsin gɛt `Ataxia-Telangiectasia (AT)`?

dis sik de kכz fכ wan mכtεshכn na di jin we dεn kכl ``ATM''.

Naw lɛ wi si wetin dɛn jin ɛn kromozom ya jɔs tan. Imajin se wan big buk de we gɛt ɔl di tin dɛn we wi fɔ du fɔ mek wi bɔdi gro. Dɛn kɔl da buk de `DNA`. di chapta dεm na dis `DNA` buk dεn kכl dεm `jin`. dis `DNA` de stכr insay tin dεm we dεn kכl `kromozom`. Nɔmal wan, mɔtalman gɛt 46 kromozom dɛn, we dɛn arenj insay 23 tu tu. Wi kin gɛt wan frɔm wi mama ɛn di ɔda wan frɔm wi papa fɔ mek dɛn kromozom pe ya.

we di sεl dεm na di riprodaktiv כgan dεm fכm, dεn sεl dεm ya de sheb εn mek kכpi fכ dεn sεf. Sɔntɛnde, lɛk we printa de jam wan pepa, dɛn sɛl ya kin mek mistek pan dɛn jin, we dɛn kɔl muteshon. Dɛn mek sɔm kɔpi dɛn fɔ di instrɔkshɔn dɛn jɔs lɛk aw dɛn mek am, ɛn sɔm dɛn nɔ mek di rayt we.

as wi bin se, dis mכtayt jin de inhεrit insay wan ``autosomal rεsεsiv`` patεn. dis min se di mama εn di papa tu de kכri dis mutated ``ATM`` jin, εn di pikin go divεlכp di sik if dεn tu gεt di mutated jin. If na wan mama ɔ papa nɔmɔ i kɔmɔt, di pikin go jɔs bi pɔsin we de kɛr am ɛn i nɔ go sho di sayn dɛn.

Dis `ATM` jin rili impɔtant. biכs i de prodyuz protin dεm we de tεl di bכdi aw fכ ripa wi `DNA` we i dכn pwεl. `ATM` protin dεm na lεk ditektiv dεm. na dεn de fכn di sεl dεm we dεn dכn pwεl εn `DNA` fragmεnt dεm εn de bכn di `(εnzym)` dεm we nid fכ rεpair dεm. na biכs fכ dis `DNA` ripa prכsεs we di pej dεm na wi bכdi instrכkshכn buk de tכn sכmtεm.

כlso, di `ATM` protin de tεl wi nεv sεstem εn imyun sistεm se, "Yu nid fכ wok fayn fayn wan." so, we mכtεshכn de na di `ATM` jin, di fכnshכn fכ di `ATM` protin de dכn ova tεm. Dat min se di sɛl dɛn kin lɔs sɔm pat dɛn na dɛn instrɔkshɔn manyual, ɛn dɛn nɔ kin ebul fɔ wok fayn. Dat na di men rizin fɔ di sayn dɛm fɔ `Ataxia-Telangiectasia (AT)`. Dɔn gɛt am?

Aw dɛn kin no bɔt `Ataxia-Telangiectasia (AT)`?

Dɔktɔ go bigin bay we i de chɛk yu sik dɛn ɛn du imej tɛst ɛn blɔd tɛst fɔ no di jenɛtik chenj we de mek yu gɛt di sik. Yu dɔktɔ go tek tɛm luk bak pan yu pikin in wɛlbɔdi ɛn in famili mɛdikal istri fɔ mek dɛn no if i gɛt di sik. If yu sɔspɛkt se yu gɛt AT, i impɔtant fɔ go to imyunɔlɔjis fɔ ful ɛvalueshɔn.

Us tɛst dɛn kin yuz fɔ no if pɔsin gɛt `Ataxia-Telangiectasia (AT)`?

Bɔrku tɛst dɛn de wae kin ɛp fɔ no dis sik:

• Jɛnɛtik tɛst : Dis na blɔd tɛst we kin sho di patikyula jɛnɛtik muteshɔn we de mek yu gɛt di sik.
• Magnetic Resonance Imaging (MRI) : MRI skan de tek pikchɔ dɛn na di bren ɛn luk fɔ sayn dɛn we de sho se di nerve cells ɔ di sɛribɛl sɛl dɛn de wik (cerebellar atrophy). Dis na sayn fɔ se ataxia de wɔs.
• Karyotyping : Dis na blɔd tɛst bak. i de egzamin di kromozom dεm fכ no di jεnεtik kכndishכn dεm.
• Blɔd tɛst : Dɛn kin du blɔd tɛst fɔ chɛk fɔ si if di alfa-fetoprotein (AFP) lɛvɛl dɔn go ɔp.

Insay bɔku kɔntri dɛn, dɛn kin yuz nyu pikin dɛn fɔ chɛk fɔ no di sik we dɛn kɔl Ataxia-Telangiectasia (AT). If nɔto dat, dɔktɔ dɛn kin no di sik we dɛn smɔl.

Wetin na di tritmɛnt dɛm fɔ `Ataxia-Telangiectasia (AT)`?

Tritmɛnt fɔ `Ataxia-Telangiectasia (AT)` na fɔ kɔntrol di sik dɛn nɔmɔ . No mɛrɛsin nɔ de fɔ dis sik yet . Di tritmɛnt we dɛn kin pik na fɔ ɛnibɔdi, we min se dɛn kin difrɛn frɔm wan pikin to ɔda pikin. Dɛn tin ya kin bi:

• Fɔ kɔntrol telangiectasia, we na wan nɛtwɔk we gɛt blɔd vesel dɛn we de apia na di skin , nɔ fɔ de na di san pasmak .
• If kansa kam , dɛn kin yuz kemotɛrapi .
• Fizik tɛrapi fɔ mek di mɔsul dɛn strɔng.
• Fɔ gɛt gammaglobulin injɛkshɔn fɔ infɛkshɔn we gɛt fɔ du wit di we aw pɔsin de blo.
• Fɔ gɛt imyunoglobulin tɛrapi fɔ sɔpɔt wan imyun sistɛm we wik.
• Fɔ tek antibayɔtik fɔ trit infɛkshɔn.
• Fɔ tek mɛrɛsin lɛk Dayazepam fɔ kɔntrol di prɔblɛm we yu de tɔk ɛn fɔ muv di mɔsul dɛn we yu nɔ want.

A kin ridyus di risk fɔ mek mi pikin gɛt `Ataxia-Telangiectasia (AT)`?

biכs `Ataxia-Telangiectasia (AT)` na di rizulεt fכ wan jεnεtik mכtεshכn, nכ we de fכ mek i nכ apin . Bɔt, jɔs lɛk ɔl ɔda tin dɛn, tin dɛn de we yu kin du fɔ mek yu nɔ gɛt pikin we gɛt prɔblɛm wit in jɛnɛtiks, lɛk fɔ avɔyd fɔ smok ɛn fɔ avɔyd fɔ gɛt kemikal. If yu de plan fɔ gɛt bɛlɛ, i fayn fɔ tɔk to yu dɔktɔ bɔt jenɛtik kɔyl fɔ ɔndastand yu risk fɔ gɛt pikin we gɛt jenɛtik disɔda lɛk `Ataxia-Telangiectasia (AT)`.

Wetin a fɔ ɛkspɛkt if a gɛt pikin wit `AT`?

Ataxia-Telangiectasia (AT) na wan sik wae kin wɔs as tɛm de go. Di smɔl smɔl sayn dɛm we kin afɛkt yu pikin in muvmɛnt kin bigin we i smɔl, wit di blɔd vesel dɛm we yu kin si na di skin. As di pikin de ol, dɛn sɛl dɛn nɔ de ebul fɔ wok akɔdin to di buk we dɛn rayt. Dis min se di pikin in sik kin tranga, ɛn bɔku tɛm i kin nid fɔ yuz wilchia we i dɔn big.

Wan sayn fɔ dis sik na we di imyun sistɛm wik, so ivin smɔl infekshɔn kin gɛt siriɔs impak pan di pikin in wɛlbɔdi.

We yu imyun sistɛm wik, dat kin mek bak yu gɛt kansa lɛk lukimiya ɔ limfoma. Bɔt tritmɛnt dɛn de fɔ mek di imyun sistɛm wok fayn, ɛn dis kin ɛp fɔ mek yu pikin gɛt wɛlbɔdi.

Di layf we pɔsin kin liv fɔ AT kin difrɛn difrɛn wan bay aw di sik dɛn kin tranga. Bɔt bɔrku pipul dɛm wae gɛt dis sik kin liv te dɛn yɔŋ (arawnd 30 ia, avrej 25 ia). If yu trit kɔmɔn infɛkshɔn kwik kwik wan ɛn fɔ mek yu nɔ gɛt kansa, dat kin ɛp fɔ mek yu liv lɔng.

Yu tink se mɛrɛsin de fɔ `Ataxia-Telangiectasia (AT)`?

Nɔ, no mɛrɛsin nɔ de fɔ `Ataxia-Telangiectasia (AT)` yet . Di tritmɛnt dɛn kin aim fɔ pul di sayn dɛm, mek layf izi fɔ ɛnibɔdi wae gɛt dis sik, ɛn ɛp fɔ mek i liv lɔng.

Aw a go tek kia ɔf mi pikin wit `AT`?

We yu kam fɔ no se yu pikin gɛt `Ataxia-Telangiectasia (AT),` i kin tranga fɔ ɔndastand di ful kayn sik ɛn no aw fɔ ɛp yu pikin. Yu pikin in dɔktɔ go gi yu tritmɛnt plan we dɛn mek fɔ in sik, ɛn i go de fɔ ansa ɛni kwɛstyɔn we yu gɛt.

Yu dɔktɔ kin tɛl yu bak fɔ mit wit pɔsin we de advays yu bɔt yu jɛnɛtiks . Di wan dɛn we de gi advays bɔt di jɛnɛtiks na pipul dɛn we sabi bɔt di jɛnɛtiks. Dɛn kin ɛp yu famili fɔ no mɔ bɔt Ataxia-Telangiectasia (AT) ɛn ɛp yu pikin fɔ liv fayn layf we go mek i fil fayn. Dɛn kin ɛp yu bak fɔ bia wit di strɛs we yu kin gɛt we dɛn de no se yu pikin gɛt di sik.

Ustɛm a fɔ go to dɔktɔ?

Bikɔs Ataxia-Telangiectasia (AT) kin afɛkt di imyun sistɛm, if yu pikin sho sayn dɛn fɔ se i gɛt di sik , yu fɔ go to dɔktɔ wantɛm wantɛm fɔ tritmɛnt. Sayn dɛm fɔ se yu gɛt di sik kin bi:

• Skin di kɔlɔ we de chenj na di say we di sik gɛt.
• Chills we de mek pɔsin kol.
• Kɔf.
• Fiva.
• Filin fɔ pen ɔ wund na wan pat na di bɔdi ɔ di wan ol bɔdi.
• Swel sɔmsay na di bɔdi.
• Shot we yu de blo.
• Vɔmit ɔ dayarɛa.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

• A fɔ go to dɔktɔ we de mɛn mi pikin fɔ mek in mɔsul dɛn strɔng?
• Ɛni sayd ɛfɛkt de we di tritmɛnt dɛn we dɛn dɔn gi mi pikin fɔ di sik dɛn we i gɛt?
• If a na pɔsin we de kɛr di mutated jin, a de pan risk fɔ gɛt pikin wit `Ataxia-Telangiectasia (AT)`?

Fɔ ɔndastand aw yu pikin gɛt `Ataxia-Telangiectasia (AT)` kin bi rili tranga ɛn strɛsful ɛkspiriɛns fɔ yu as pɔsin we de kia fɔ yu. Bɔt yu dɔktɔ go gi yu gud tritmɛnt plan we go mek yu pikin gɛt di sik. Di tin we impɔtant pas ɔl na fɔ gi yu pikin di lɔv ɛn sɔpɔt we i nid ɔl in layf. Dɔn bak, no bɔt ɛni nyu sayn we de sho se yu gɛt am, mek dɛn trit am kwik, ɛn tray fɔ mek yu pikin liv lɔng as yu ebul.

## Impɔtant tin dɛn fɔ mɛmba (Take-Home Message)

Ataxia-Telangiectasia (AT) na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt pikin ɛn dɛn famili bad bad wan. Na nɔmal tin fɔ mek yu fred ɛn wɔri we yu de lan bɔt am.

• I impɔtant fɔ no di sayn dɛm we yu kin gɛt kwik kwik wan : Go to dɔktɔ if yu notis chenj na di we aw yu pikin de waka, balans, i nɔ izi fɔ tɔk, ɔ strenj rɛd spat na in skin/ay.
• Pan ɔl we no mɛrɛsin nɔ de fɔ dis, dɛn kin ebul fɔ kɔntrol di sik dɛn : di rayt tritmɛnt ɛn sɔpɔt savis kin ɛp fɔ mek di pikin in kwaliti layf bɛtɛ ɛn mek dɛn liv lɔng.
• Tek kia ɔf yu imyuniti : Pikin dɛn we gɛt `AT` kin gɛt ay risk fɔ gɛt infɛkshɔn. So no bɔt di sayn dɛn we de sho se yu gɛt di sik ɛn go to tritmɛnt kwik kwik wan.
• Nɔto yu wan : Yu ɛn yu pikin kin gɛt di sɔpɔt we yu nid frɔm dɔktɔ dɛn, pipul dɛn we de advays yu bɔt yu jɛnɛtiks, ɛn sɔpɔt grup dɛn.
• Lɔv ɛn sɔpɔt na di tin dɛn we impɔtant pas ɔl : Yu lɔv, peshɛnt, ɛn sɔpɔt na di tin dɛn we valyu pas ɔl fɔ yu pikin we i de travul.

A op se dis infɔmeshɔn dɔn ɛp yu fɔ ɔndastand sɔm kayn tin bɔt dis kɔmpleks kɔndishɔn. If yu gɛt ɛni ɔda kwɛstyɔn, nɔ shem fɔ tɔk to dɔktɔ.

` Ataxia-telangiectasia, AT, Louis-Bar syndrome, jεnεtik sik dεm, nεv sεstem, imyun sistεm, muvmεnt dizכrd, sik dεm we nכ kin apin, pikin dεm sik dεm