I tan lɛk se yu pikin de ol tumɔs kwik? Mek wi tɔk bɔt Progeria!

Oh, sɔntɛnde i kin rili sɔri fɔ si wi smɔl pikin dɛn de sik, nɔto so? Ɛspɛshali, if di pikin luk big pas in ej fa fawe, aw mama ɛn papa dɛn kin fil we dɛn si am? Tide wi go tɔk bɔt wan sik we nɔ kin bɔku, bɔt we rili impɔtant fɔ no bɔt. Dɛn kɔl dis `Progeria`. Dis na rili wan sik we de mek pikin ol kwik kwik wan pas in ej.

Wetin na `Progeria`? Lɛ wi ɔndastand am simpul wan, nɔto so?

Fɔ tɔk am simpul wan, Progeria na wan sik we nɔ kin bɔku we pɔsin kin gɛt we i kam pan jɛnɛtiks. Wetin kin apin pan dis na dat pikin kin ol kwik kwik wan. Imajin, we yu plant smɔl plant, i kin gro smɔl smɔl. Bɔt pikin dɛn we gɛt dis sik kin gro kwik kwik wan ɛn dɛn kin luk ol.

We dɛn bɔn dɛn pikin ya, bɔku tɛm dɛn kin gɛt wɛlbɔdi ɛn dɛn kin tan lɛk ɔda pikin dɛn. Bɔt insay di fɔs ɔ tu ia we dɛn de liv, dɛn kin bigin fɔ sho sayn dɛn we de sho se dɛn dɔn ol bifo tɛm. Di rit we dɛn kin gro kin slo, ɛn dɛn wet nɔ kin go ɔp lɛk aw dɛn bin de tink. Bɔt bɔku tɛm, dɛn pikin ya nɔ kin gɛt ɛnitin fɔ du wit sɛns. Wi fɔ mɛmba dat bak.

Na sɔm pan de chenj dɛm wae de kam pan bɔdi wae dis sik kin kam:

• Di ia we de lɔs (bɔld) .
• Ay dɛn we de kɔmɔt na do
• Skin we dɔn ol ɛn we dɔn rɔtin
• Wan tint nos we gɛt pɔynt
• Wan fes we smɔl pasmak we yu kɔmpia am to di sayz we di ed gɛt
• Di ɔyl layt we de ɔnda di skin we de lɔs

Di nem "Progeria" kɔmɔt frɔm di Grik wɔd "geras", we min "ol ej". Dɛn kɔl di men kayn sik we dɛn kɔl Hutchinson-Gilford Progeria Syndrome (HGPS). Na tu dɔktɔ dɛn we nem Dɔktɔ Jonathan Hutchinson ɛn Dɔktɔ Hastings Gilfɔd bin tɔk bɔt am fɔ di fɔstɛm insay di let 1800 dɛm.

I sɔri fɔ no se, Progeria na sik we kin kil pɔsin ɔltɛm. Di avrej ej fɔ day fɔ dɛn pikin ya na lɛk 14.5 ia. Bɔt sɔm yɔŋ pipul dɛn we gɛt Progeria dɔn liv te dɛn rich 20 ia. Dɛn dɔn si se wan mɛrɛsin we dɛn kɔl Lonafarnib kin mek di sik nɔ go bifo kwik kwik wan.

Bɔku pan di wan dɛn we kin day kin bi bikɔs ɔf di prɔblɛm dɛn we kin apin we dɛn gɛt siriɔs atɛrosklɛrosis . Dis na di sem at sik we kin ambɔg bɔku bɔku pipul dɛn we dɔn ol. Bɔt i kin afɛkt dɛn pikin ya we dɛn yɔŋ pasmak. Atεrosklεrosis na wan kכndyushכn we fεt dεposit dεm (plak) kin bכku insay di wכl dεm na yu bכdi vεsεl dεm (atεri dεm), we kin mek dεn nכ de fleksibul εn i at. Dis kin mek yu gɛt tin dɛn lɛk at atak ɔr strok.

Udat dɛn kin afɛkt mɔ wit Progeria?

Progeria na wan sik wae nɔr kin bɔrku pan jɛnɛtiks wae kin afɛkt ɛnibɔdi. Bɔku tɛm, na wan de novo jɛnɛtik muteshɔn kin mek i apin. Dis min se nɔbɔdi na di famili nɔ bin dɔn gɛt dis sik bifo .

Aw kɔmɔn tin na Progeria?

Dis nɔ kin apin so ɔltɛm. Na wan pan ɛvri 4 milyɔn pikin dɛn we de bɔn layf layf wan ɔlsay na di wɔl, dis sik kin afɛkt am. Dɛn se naw na lɛk 400 pikin ɛn yɔŋ pipul dɛn we gɛt Progeria ɔlsay na di wɔl.

Wetin na di sayn dɛm fɔ Progeria?

De sayn dɛm fɔ Progeria na di sem wit di wan dɛm wae pipul dɛm kin gɛt as dɛn de ol nɔrmal wan. Bɔt, dɛn kin apia we dɛn yɔŋ pasmak. Insay di fɔs tu ia na dɛn layf, pikin dɛn we gɛt Progeria kin bigin fɔ sho dɛn sayn ya we de sho se dɛn de ol kwik kwik wan:

• Growth retardation/shɔt ayt.
• Di skin we de rɔtin.
• Di ia we de lɔs (bɔldnɛs).
• Joint stiffness ɛn i nɔ izi fɔ muv.
• Had, rɔf skin, we fiba wan kɔndishɔn we dɛn kɔl `Scleroderma`.
• Di fat we de na di bɔdi we de go dɔŋ.

Di abnɔmal tin dɛn we de apin na di kraniofashial kin inklud:

• di sכft say we de bifo di ed (fontanelle) de opin big wan.
• wan sכm sכm fes we yu de rilayshכn wit di sayz fכ di ed (makrosεfali - usay di ed big bכt di fes sכm).
• Wan nos we gɛt pɔynt.
• Dilay we yu de mek yu tit.
• Smɔl (we nɔ de divɛlɔp) jaw (`micrognathia`).

As de sik de go bifo, sɔm kayn sayn dɛm wae nɔr kin klia lɛk dis kin kam bak:

• Di hip we de kɔmɔt na di bɔdi.
• Katarakt we pɔsin kin gɛt.
• Atraytis we pɔsin kin gɛt.
• Plɛk we de bɔku na di at.

Wetin kin mek pɔsin gɛt Progeria?

di men tin we de mek Progeria na di jεnεtik mכtεshכn na di jin we dεn kכl LMNA. dis LMNA jin de mek wan protin we dεn kכl lamin A, we de εp fכ ol di nyuklios fכ εvri sεl na wi bכdi tכgeda. Tink bɔt am lɛk di wɔl dɛn na os fɔ sɛl.

wan rili sכm mכtεshכn na di `LMNA` jin de mek wan abnכmal fכm fכ di `lamin A` protin, we dεn kכl `progerin`. dis `progerin` de tek ples fכ `lamin A` εn de stεbiliz di nyuklios dεm na wi sεl dεm, sכmtεm i de damej dεm. Dis kin mek ɔl di sɛl dɛn na wi bɔdi day kwik kwik wan. Na dat kin mek dis kayn we aw pɔsin kin ol bifo tɛm.

Yu tink se na frɔm in mama ɛn papa dɛn kin gɛt Progeria?

di progeria kin kכz fכ wan nyu, spontan (`de novo` mכtεshכn) insay di `LMNA` jin. Dis min se i nɔ gɛt frɔm di mama ɛn papa. bכku tεm, dis mכtεshכn kin apin bifo uman bεlε, insay di sεl dεm.

Na Progeria de dominant ɔ recessive?

Progeria na wan ɔtosomal dominant disɔda, we min se ivin if ɛvri sɛl gɛt wan kɔpi fɔ di jin we dɔn chenj, i go du fɔ mek i gɛt di sik.

Aw dɛn kin no se pɔsin gɛt Progeria?

Yu pikin in dɔktɔ kin ebul fɔ no di sik bay aw yu pikin de luk. I go chɛk yu pikin ɛn aks yu bɔt di sayn dɛn we yu gɛt. If dɛn sɔprayz se Progeria, dɛn kin du jenɛtik tɛst fɔ kɔnfirm di diagnosis. Dis min se yu fɔ tek blɔd sɛmpul frɔm yu pikin.

Wetin na di tritmɛnt dɛm fɔ Progeria?

Naw, no mɛrɛsin nɔ de fɔ Progeria. Bɔt sɔm pipul dɛn we de stɔdi bɔt dis sik de stɔdi bɔt bɔku mɛrɛsin dɛn we go ebul fɔ mɛn dis sik. Di drɔg we dɛn kin yuz fɔ trit Progeria na in dɛn kɔl Lonafarnib (ZokinvyTM). Fɔ tru, na mɛrɛsin we dɛn mek fɔ mɛn kansa. Bɔt, Lonafarnib dɔn sho se i dɔn impɔtant pan bɔku tin dɛn we gɛt fɔ du wit Progeria. Di avrej layf we pikin dɛn we gɛt dis sik kin liv dɔn go ɔp bay lɛk tu ɛn af ia so. Ɛni pikin we tek di mɛrɛsin dɔn sho se i dɔn bɛtɛ pan wan ɔ mɔ pan dɛn 4 tin ya:

• Di blɔd vesel dɛn kin ebul fɔ chenj mɔ ɛn mɔ.
• Divεlכpmεnt fכ di bon strכkchכ.
• We yu de gɛt mɔ wet.
• I dɔn mek i ebul fɔ yɛri fayn fayn wan.

Fyzikal tritmɛnt kin ɛp yu pikin fɔ mek i ebul fɔ muv fayn fayn wan, balans fayn fayn wan, ɛn fɔ tinap fayn fayn wan. I kin ɛp bak fɔ ridyus di pen na di hip ɛn leg. Okyupashɔnal tritmɛnt kin ɛp yu pikin fɔ it fayn, fɔ klin insɛf, ɛn fɔ rayt in an.

Di tin we impɔtant pas ɔl na fɔ gi yu pikin di kia we i nid fɔ liv wɛl ɛn fil fayn as i pɔsibul.

Yu pikin in dɔktɔ go wach ɛn manej dis sik tru tin dɛm lɛk:

• Fɔ chɛk yu at sik: Yu pikin in dɔktɔ go chɛk yu pikin in blɔd prɛshɔn ɛn du tɛst lɛk ɛkokadiogram ɔltɛm. Aspirin ɛn statin drɔgs we nɔ bɔku kin ɛp fɔ ridyus di risk fɔ gɛt at sik.
• Imej tɛst (e.g., Magnetic Resonance Imaging - MRI): Di dɔktɔ de yuz imej tɛst lɛk MRI fɔ luk fɔ strok, ɔ fɔ luk fɔ ed we de at ɔ siz ɔltɛm.
• Fɔ de chɛk yu yay ɔltɛm: Yu pikin kin gɛt prɔblɛm wit in yay lɛk fɔ si nia ɔ in yay kin dray. Dray yay kin apin bikɔs di aylid dɛn nɔ kin lɔk ɔl. As di sik de go bifo, di pikin kin gɛt katarakt bak. Di aylash ɛn aybrɔw kin tan ɔ nɔ de igen. Dis kin mek i izi fɔ mek dɔti ɛn dɔti dɔti go insay di yay. Dɔn bak, di pikin kin gɛt strɔng sɛnsitiviti to layt. So, i kin nid fɔ wɛr sanglas sɔntɛnde.
• Test fɔ yɛri:Di pikin kin gɛt prɔblɛm wit di we aw i nɔ de yɛri igen. Dɛn kin kɔrɛkt dɛn tin ya wit tin dɛn we dɛn kin yuz fɔ yɛri.
• Yu kin chɛk yu tit ɔltɛm: Yu pikin kin gɛt prɔblɛm wit in tit lɛk fɔ gɛt kaviti, krawd, fɔ delay fɔ pul in tit, ɛn fɔ in gam we de go bak. Fɔ go to di dɛntist ɔltɛm kin ɛp fɔ wach ɛn trit dɛn prɔblɛm ya.
• Prɔblɛm dɛn na di skin: Di dɔktɔ go wach fɔ dak spat ɔ bɔmp na di pikin in skin. Dɛn go luk bak fɔ di ia we de lɔs, it, ɛn di skin we de tik (we kin mek i nɔ muv ɛn mek i nɔ izi fɔ blo ɔ dayjɛst it).
• di bon dεm we de mכnitor di bon hεlth: di pikin kin gεt sεvεra prכblεm dεm we de fכm di bon dεm we de gro εn divεlכpmεnt. Dɛn kin gɛt prɔblɛm wit dɛn jɔyn bak.

Yu pikin nid inof it fɔ mek i gro. I kin nid sɔpɔtmɛnt nyutrishɔn (lɛk fidin tyub). If yu kip yu pikin gɛt wata fayn fayn wan (we yu gi yu wata) i kin ɛp fɔ mek yu nɔ gɛt prɔblɛm wit yu nyurolɔjik wantɛm wantɛm. Tɔk to yu pikin in dɔktɔ bɔt wɛlbɔdi we fɔ gɛt inof kalori ɛn wata.

Yu tink se dɛn kin ebul fɔ avɔyd Progeria?

Progeria na wan jεnεtik kכndyushכn we rili rεs we dεn nכ kin ebul fכ avεnt. Bɔku tɛm, na nyu jin we de chenj kin mek i apin. Dis min se i kin apin randomly. Bikɔs di sik nɔ kin apin na famili, i nɔ kin izi fɔ no wetin go apin. Bɔt if yu gɛt wan pikin we gɛt Progeria, di chans fɔ mek ɔda pikin gɛt di sik kin go ɔp smɔl. Yu kin tink bɔt fɔ tɛst yu jɛnɛtiks fɔ no if yu gɛt prɔblɛm.

Wetin na di layf we pɔsin we gɛt Progeria kin liv?

Progeria na wan sik wae de kil pipul dɛm wae kin mek pɔrsin day bifo tɛm. Di avrej layf we pɔsin we gɛt Progeria kin liv na lɛk 14.5 ia. Bɔt sɔm pikin dɛn kin day we dɛn ol 6 ia. Dɔn bak, sɔm yɔŋ pipul dɛn we gɛt Progeria kin liv te to dɛn 20 ia.

Day kin bi bikoz fכ di komplikashכn dεm we de fכ di kכndyushכn `Atherosclerosis`. Mɔ pas 80% pan di wan dɛn we de day na bikɔs ɔf `at we nɔ de wok fayn` ɛn/ɔ `at atak`. Tritmɛnt wit di drɔg `lonafarnib` dɔn sho gud rizɔlt. I dɔn mek pipul dɛn we gɛt `Progeria` liv lɔng lɛk tu ɛn af ia.

If mi pikin gɛt Progeria, mi ɔda pikin dɛnsɛf go gɛt am?

Progeria na wan jεnεtik mכtεshכn we rili rεs, εn i nכ kin rכn na famili. Di ɔl chans fɔ gɛt pikin wit Progeria na lɛk 1 pan ɛvri 4 milyɔn. Bɔt if yu gɛt wan pikin we gɛt Progeria, i nɔ go izi fɔ mek ɔda pikin gɛt am.di chans de hכy, bitwin 2% εn 3%. Dis na bikɔs ɔf wan kɔndishɔn we dɛn kɔl mosaykism. Insay mosaysis, smɔl pasɛnt pan di sɛl dɛn na wan mama ɔ papa gɛt di jin muteshɔn fɔ Progeria, bɔt da mama ɔ papa de nɔ gɛt di sik. If yu pikin gɛt Progeria, yu kin tink bɔt fɔ du di jenɛtik tɛst fɔ no if ɔda pikin de pan denja fɔ gɛt dis sik.

If mi pikin gɛt Progeria, aw a go tek kia ɔf am?

If yu pikin gɛt Progeria, tray fɔ mek ples na os we nɔmal as yu ebul. Put yu pikin insay bɔku tin dɛn we yu ebul fɔ du. Bɔt nɔ mek di ɔda pikin dɛn na yu famili fil lɛk se dɛn nɔ de pe atɛnshɔn to dɛn.

We yu de tɔk to di wan ol famili bɔt di tru tin se yu pikin we gɛt Progeria go jɔs liv te to wan patikyula ej, bi ɔnɛs bɔt i fit di ej. Di advays dɛn kin ɛp pan bɔku tin dɛn.

Dɔn bak, tɔk to yu pikin bɔt aw sɔm pipul dɛn go sɔprayz ɛn luk dɛn difrɛn we. Tɔk to yu pikin bɔt aw i fɔ ansa if pɔsin luk am strenj ɔ wispa am.

Pikin we gɛt Progeria kin go skul?

Bɔku pikin dɛn we gɛt Progeria kin go skul. Dɛn kin nid ples fɔ slip fɔ ɛp dɛn fɔ tek pat gud gud wan, fil fayn, ɛn sef. Yu fɔ mit ɔltɛm wit yu pikin in skul administreta dɛn, nɔs dɛn, tritmɛnt pipul dɛn, ɛn ticha dɛn. Dis go ɛp ɔlman fɔ wok togɛda fɔ mit yu pikin in nid. Dis inklud fɔ mek wan plan ɛn sheb am wit ɔlman if yu pikin nid fɔ kia fɔ am kwik kwik wan na skul (fɔ ɛgzampul, if i gɛt prɔblɛm fɔ blo wantɛm wantɛm ɔ i gɛt pen na in chɛst).

Wetin na `Neonatal progeria`?

Apat frɔm di sik we dɛn kɔl Hutchinson-Gilford progeria syndrome, sɔm ɔda tin dɛn de we kin mek pɔsin ol bifo tɛm. Dɛn kɔl dɛn tin ya projɛroyd sindrom. di nyu bכbi progeria, we dεn kכl bak nyu bכbi progeroid sεndrכm, na wan pan dεn kayn kכndyushכn dεm ya. Dɛn kin kɔl am bak Wiedemann-Rautenstrauch syndrome, dis sik kin mek di skin nɔ de gro fayn ɛn i kin mek di skin rɔtin. כltu, di nyu bכbi projεroyd sεndrכm de inhεrit insay wan כtosom rεsεsiv we. dis min se di dizכrd de apin כnli if dεn tu kכpi dεm fכ di mutated jin de inhεrit insay εvri sεl.

Fɔ no se yu pikin gɛt Progeria kin mek yu at ɛn kɔnfyus. Yu pikin in dɔktɔ kin ɛp yu ɛn yu famili fɔ bia wit di sik we dɛn dɔn no bɔt. I kin ɛp yu bak fɔ ɔndastand di tritmɛnt opshɔn dɛm we kin mek di sik slo. Bɔku mama ɛn papa dɛn we gɛt pikin dɛn we gɛt jɛnɛtik kɔndishɔn lɛk Progeria kin si se sɔpɔt grup dɛn kin rili ɛp. We yu aks kwɛstyɔn, lan bɔt ɔda famili dɛn ɛkspiriɛns kin kɔrej yu, ɛn i kin ɛp yu fɔ fil lɛk se nɔto yu wangren de.

Di tin dɛn we impɔtant pas ɔl fɔ mɛmba (Take-Home Message) .

Progeria na wan sik wae nɔr kin bɔrku, bɔt kin de pan pɔrsin in layf wae impɔtant fɔ no bɔt.

• Dis na jεnεtik sik: bכku tεm na wan nyu jεn mכtεshכn we de apin.
• We pɔsin de ol kwik kwik wan na di men sayn: Tin dɛn lɛk aw pikin de luk, in skin, ɛn in bon dɛn kin ol kwik kwik wan.
• Intɛlijɛns nɔ de afɛkt: Di intɛlijɛns lɛvɛl fɔ dɛn pikin ya na nɔmal tin.
• Tritmɛnt de, bɔt nɔr de fɔ mɛn am: Drug dɛm lɛk Lonafarnib kin slo di sik ɛn mek pɔrsin liv lɔng. Bɔt dɛn nɔ dɔn fɛn wan kɔmplit mɛrɛsin yet.
• Lɔv ɛn sɔpɔt fɔ di pikin rili impɔtant: fɔ ɛp di pikin fɔ liv nɔmal layf, fɔ ɔndastand am, ɛn fɔ gi am di mɛrɛsin we i nid, rili impɔtant.
• Nɔto yu wan de: tɔk to ɔda famili dɛn we gɛt di sem kayn tin, gɛt sɔpɔt, ɛn aks dɔktɔ dɛn advays.

A op se dis infɔmeshɔn go ɛp yu. If yu gɛt ɛni dawt, nɔ fɔgɛt fɔ go to dɔktɔ.

` Progeria, jεnεtik sik dεm, we dεn de ol bifo tεm, LMNA jin, lonafarnib, pikin dεm hεlth, sik dεm we nכ kin apin