Yu pikin gɛt siriɔs prɔblɛm wit in bon divɛlɔpmɛnt? Mek wi lan bɔt Thanatophoric Dysplasia!

As mama we go bi mama, yu kin want fɔ no mɔ ɛn lɛk ɔltin bɔt yu pikin, nɔto so? Bɔt sɔntɛnde, wi kin gɛt fɔ dil wit wɔd dɛn we wi nɔ ɛva yɛri bɔt ɛn we kin mek wi fred smɔl. Tide, wi go tɔk bɔt wan sik we nɔ kin bɔku bɔt we rili siriɔs we dɛn kɔl "Thanatophoric Dysplasia". Pan ɔl we di nem kin tan lɛk se i kɔmplikt smɔl, lɛ wi kip am simpul.

Wetin na Thanatophoric Dysplasia?

Fɔ tɔk am simpul wan, thanatophoric dysplasia na wan jɛnɛtik kɔndishɔn we de afɛkt di divɛlɔpmɛnt fɔ di pikin in bon ɛn in lɔng. Bɔku tɛm i kin bigin we di pikin stil de na di bɛlɛ.

Di wɔd "thanatophoric" kɔmɔt frɔm di ol Grik. I min "fɔ briŋ day." Di nem rili de mek pɔsin fred smɔl. di rizin na dat bכku pikin dεm we dεn bכn wit dis kכndyushכn kin gεt hכy risk fכ day bifo dεn bכn (stillbirth) כ insay fכ de dεm we dεn bכn biכs fכ di respiratory failure, biכs dεn lכng dεm nכ de fulכp divεlכp.

Bɔt, na smɔl tɛm nɔmɔ , dɛn dɔn ripɔt se pikin dɛn we dɛn bɔn wit dis sik kin liv te dɛn smɔl wit intensiv mɛdikal kia, mɔ fɔ we dɛn nɔ ebul fɔ blo fayn. dis we aw di pikin de blo fayn na we di pikin in bכdi nכ de gεt inof כksijεn כ i gεt tu mכch kabכn dayכksayd insay.

Yu tink se sɔm kayn chondrodysplasia de?

Yes, tu men kayn dis sik de, we dεn kin difrεnt bay difrεns pan di we aw di bon dεm de divεlכp:

• Tayp 1: Bebi dεm we gεt dis tכyp gεt rili sכt limb dεm , dεn chεst we rili sכm, dεn thigh dεm we shep lεk bo , εn flat spayna (platyspondyly). sכmtεm, di bon dεm na di sכkul kin fכs tכgeda tu kwik (craniosynostosis). Dis kayn kin kɔmɔn pas tayp 2. Tink bɔt am lɛk dɔl in smɔl an ɛn fut, bɔt dɛn nɔ fit di ɔda pat na di bɔdi.

• Tayp 2: Dis kayn pikin gɛt bak in an ɛn fut dɛn we rili shɔt ɛn in chɛst smɔl . Bɔt di bon dɛn na di shɔl kin stret . כlso, biכs di sutura dεm na di sכkul de kכloz kwik kwik wan, yu kin si bulj dεm na di fכnt εn sayd dεm na di ed. Sɔntɛnde dɛn kin kɔl dis "klɔvalif skel" bikɔs ɔf in shep.

Aw dis sik kin kɔmɔn?

Thanatophoric dysplasia na wan sik we nɔ kin apin so ɔltɛm. Statistikin sho se pan ɛvri 20,000 pikin dɛn we dɛn bɔn, na lɛk wan pikin kin gɛt dis sik. Dis min se nɔto sɔntin we pipul dɛn kin si bɔku tɛm.

Wetin na di sayn dɛm fɔ thanatophoric dysplasia?

biכs dis kכndyushכn de afekt di we aw di pikin in lכng, bon, εn jכint dεm de divεlכp na di bεlε, dεn kin si dεn sayn dεm ya:

• di lכng dεm we nכ de divεlכp fayn: dis de bi fכ sכt rib dεm εn wan sכm chεst kכva. Dis kin mek smɔl ples fɔ mek di lɔng dɛn blo ɛn gro fayn fayn wan.
• Ekstra fold dεm na di skin na di an εn di leg dεm.
• Big ed, fɔrɛst we de kɔmɔt na do, ɛn flat fes.
• sכt ayt (skel displasia) εn di limb dεm we sכt pasmak (maykromelia).
• Ay dɛn we gɛt wayd sɛt.

di men tin we kin mek pikin dεm we dεn bכn wit dis kכndyushכn day na we dεn de blo fayn, we kin apin we di lכng dεm nכ de divεlכp fayn fayn wan. Dis kin mek i nɔ izi fɔ di pikin fɔ blo fayn.

Na smɔl tɛm nɔmɔ, pikin dɛn we de liv pas we dɛn smɔl kin gɛt ɔda sayn dɛn:

• Di bon dɛn we nɔ de gro fayn.
• I nɔ kin izi fɔ yu fɔ blo ɔltɛm.
• I nɔ de yɛri fayn igen.
• Kɔndishɔn lɛk epilepsy (seizure).

Wetin na di rizin fɔ dis?

di men kכz fכ thalamophytic dysplasia na di mכtεshכn insay wan jin we dεn kכl `FGFR3`. dis `FGFR3` jin na in de gi instrכkshכn fכ divεlכpmεnt εn mεntenans fכ di bon dεm na di pikin in bכdi. Tink bɔt am lɛk layt switch na wi bɔdi. I de tɔn `on` we nid de ɛn `ɔf` we di wok dɔn.

bכt we mכtεshכn de na di `FGFR3` jin, i lεk se di layt switch de stכk na di `on` posishכn. afta dat, di protin dεm we dis jin de kכntro kin bi ova aktif. as a rizulyt, di prכsεs fכ `ossification`, di prכsεs we di lכng bon dεm, kכtilaj, de bi bon, de rεstrikt. Fɔ tɔk am simpul wan, bon dɛn nɔ kin fɔm fayn.

כl di kes dεm fכ chondrodysplasia kin kכz fכ wan nyu jεnεtik mכtεshכn we de apin insay pikin. Dis min se i nɔ gɛt frɔm di mama ɔ di papa. Bɔku tɛm, nɔbɔdi na di famili nɔ bin dɔn gɛt dis sik bifo. Bɔt, na smɔl tɛm nɔmɔ , pikin kin gɛt dis jɛnɛtik muteshɔn frɔm wan pan di mama ɛn papa. dis dεn kכl am ``autosomal dominant`` patεn.

Udat dis tin we de apin de afɛkt?

Thanatophoric dysplasia kin apin pan ɛni pikin. Dis na bikɔs dis chenj na di jɛnɛtiks kin apin bɔku tɛm. As wi bin dɔn tɔk, na smɔl tɛm nɔmɔ dɛn kin gɛt am frɔm mama ɛn papa.

di imכtant tin na dat, dεn jεnεtik chenj dεm ya nכ de kכz fכ enitin we di mama du we i bεlε. So, nɔ blem yusɛf fɔ dis.

Aw dɛn kin no se pɔsin gɛt thanatophoric dysplasia?

Dɛn kin no dis sik we di pikin stil de na di bɛlɛ. We dɛn de du ɔltra saund skan we uman gɛt bɛlɛ, .Dɛn kin no dis sik. Yu dɔktɔ go tɛl yu fɔ du tɛst dɛn we go ebul fɔ no difrɛn difrɛn tin dɛn we de apin to pɔsin we gɛt bɛlɛ. we dεn de du skan, dכkta dεn de luk fכ sayn dεm lεk we di amniotic fluid we de rawnd di pikin de inkrεs (polyhydramnios) εn di bon dεm we nכ de gro.

if, afta sכm tεst, dεn no se mכtεshכn na di `FGFR3` jin, dכkta dεm go tek di stεp dεm we nid fכ avכyd posεbul kכmplikεshכn dεm we uman bεlε.

Afta dɛn bɔn di pikin, dɛn kin du ɛkstrem rayt pan di pikin in bon dɛn ɛn ɔltra saund fɔ di ɔgan dɛn we de insay, mɔ di lɔng dɛn , fɔ no if dɛn nid ɛni tritmɛnt fɔ brith.

Us kayn tɛst dɛn kin du fɔ dis?

We yu gɛt bɛlɛ, yu dɔktɔ kin tɛl yu fɔ du tɛst dɛn lɛk dis fɔ no if yu gɛt bɛlɛ:

• Amniocentesis: dis involv fכ tek sכm sכm sεmpl fכ di amniotic fluid we de rawnd di pikin bitwin 15 εn 20 wiks we i bεlε εn tεst am fכ no difrεn hεlth kכndyushכn dεm.
• Chorionic Villus Sampling (CVS): insay dis, bitwin 10 εn 13 wiks we di bεlε de, dεn de tek sכm sכm sεmpl sεl dεm frכm di plasεnta εn tεst fכ di jεnεtik kכndishכn dεm.

Aw dɛn kin trit thanatophoric dysplasia?

di pikin dεm we de liv afta dεn bכn dεn go bigin fכ trit dεm wantεm wantεm fכ sכpכt dεn lכng dεm we nכ de divεlכp . Dis kin ɛp di pikin fɔ blo fayn fayn wan. Dis sɔpɔt fɔ blo kin inklud:

• we yu put wan tiub insay di winda paip (tracheostomy).
• fכ gi supliment כksijεn tru di nos dεm (e.g., `Kכntinyu Pozitiv Aywe Prεshכn` כ `CPAP` mashin).
• Gi brɔnkodilaytɔ dɛn.
• Yuz mashin (ventilator) fɔ ɛp fɔ gi briz to di lɔng dɛn.

Apat frɔm dat, dɛn kin yuz tritmɛnt bak fɔ pul ɔda sayn dɛm fɔ di sik. Fɔ ɛgzampul:

• Yuz tin fɔ ɛp fɔ yɛri fɔ pipul dɛn we nɔ de yɛri fayn.
• Fɔ gi antiseizure mɛrɛsin fɔ epilepsy.
• Ɔpreshɔn if nid de fɔ kɔrɛkt di abnɔmal tin dɛn we de na di bon dɛn we de gro.

Pan ɔl we bɔku pikin dɛn we dɛn no se gɛt thanatophoric dysplasia nɔ kin liv, yu mɛdikal tim go tich yu bɔt di tin dɛn ɛn sɔpɔt we yu ɛn di wan dɛn we yu lɛk nid fɔ bia wit di pwɛl at ɛn kɔmfɔt we kin kam wit dis diagnosis. Fɔ advays yu bɔt pwɛl hat, ɔ fɔ advays yu bɔt pɔsin we dɔn day, na we fɔ ɛp yu fɔ bia wit dis bad bad tin we kin apin to yu ɛn fɔ ebul fɔ kɔntrol dis tɛm we nɔ izi fɔ yu. Dɛn kin ɛp yu bak fɔ bia wit yu pwɛl hat.

Wetin yu kin ɛkspɛkt if yu gɛt pikin we dɛn no se gɛt thanatophoric dysplasia?

infakt, di prכgnosis fכ bebi dεm we dεn no se dεn gεt thanatophoric dysplasia nכ rili gud. di men rizin fכ dis na biכs di lכng dεm nכ de divεlכp. Dɛn layf kin rili shɔt. Bɔku pan di pikin dɛn kin day we dɛn bɔn dɛn we dɔn day ɔ insay di fɔs wik dɛn we dɛn bɔn dɛn.

di pikin dεm we de liv afta dεn bכn dεn nid fכ kia fכ sכpכt dεn lכng εn fכ mek dεn brith stebul. Bɔku tɛm, dɛn kin nid fɔ gɛt ɛp frɔm ventilator ɔl di tɛm we dɛn smɔl.

Fɔ lɔs pikin na tin we kin rili mek pɔsin fil pen ɛn i nɔ kin izi fɔ bia. E kin gɛt bɔrku impak pan yu maynd wɛl bɔdi ɛn aw yu de fil. Sɔpɔt savis dɛn de fɔ mama ɛn papa ɛn famili we de kray fɔ ɛp dɛn fɔ bia wit dis lɔs.

Aw a go ridyus di risk fɔ mek mi pikin gɛt chondrodysplasia?

biכs dis kכndyushכn kin bi di rizulεt fכ wan nyu jεnεtik mכtεshכn we de apin randomly, nכ we nכ de fכ mek dεn nכ gεt thanatophoric dysplasia. If yu de plan fɔ gɛt bɛlɛ, tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks fɔ ɔndastand yu risk fɔ bɔn pikin wit di jenɛtik kɔndishɔn.

Aw a go tek kia ɔf misɛf if a gɛt pikin we dɛn no se gɛt thanatophoric dysplasia?

Fɔ no se yu pikin gɛt kɔndroplasia na tin we nɔ kin izi ɛn i kin mek yu fil pen. Yu mɛdikal tim go ɛp yu ɛn di wan dɛn we yu lɛk fɔ bia wit dis tranga tɛm. Dɛn go gi yu bak fɔ fala yu pikin fɔ mek shɔ se yu ɛn yu famili de fayn fayn wan afta yu dɔn lɔs yu pikin.

If yu de fil bad, wɔri, pwɛl hat, ɔr nɔr gɛt op, ɛn yu de tray tranga wan fɔ bia wit pikin we dɔn day, i impɔtant fɔ kɔl yu dɔktɔ. Dɛn kin rifer yu to mɛntɛl hεlth pɔrsin ɔr wan grup wae de sɔpɔt pɔrsin wae dɔn day. Na de, yu kin tɛl ɔda pipul dɛn we dɔn go tru dɛn kayn tin dɛn ya aw yu de fil. If yu gɛt sɔpɔt nɛtwɔk rawnd yu, dat kin ɛp yu fɔ kɔntrol yu pwɛl hat.

Ustɛm yu nid fɔ go na di imejensi rum?

If yu pikin we dɛn bɔn wit thanatophoric dysplasia gɛt prɔblɛm fɔ blo , in at nɔ de bit ɔltɛm ɔ i de bit kwik kwik wan , ɔ di skin we de rawnd in lip, in mɔt, ɛn finga dɛn tɔn blu, pepul, ɔ pale , dis kin bi sayn fɔ se i nɔ de blo fayn ɛn i nɔ gɛt ɔksijɛn. Kɔl 911 (ɔ yu lokal imejensi nɔmba) wantɛm wantɛm ɔ go na di imejensi rum we de nia yu.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

• A kin du jenɛtik tɛst if a de plan fɔ gɛt bɛlɛ?
• If a tray fɔ bɔn ɔda pikin, chans de fɔ mek da pikin de gɛt chondrodysplasia bak?
• Us tin dɛn yu go tɛl mi fɔ ɛp mi fɔ bia wit di sɔri we a kin fil we a lɔs mi pikin?

Ivin if yu du ɔl wetin yu ebul fɔ gɛt wɛlbɔdi bɛlɛ, di chenj dɛn we yu gɛt na yu jɛnɛtiks kin mek yu gɛt prɔblɛm dɛn we kin mek yu layf de pan denja, lɛk tayrotoksikosis. Insay dis tranga tɛm, yu kin fil bad, vɛks, kɔnfyus, nɔ ebul fɔ du ɛnitin, ɔ yu kin lɔs. So, i rili impɔtant fɔ mek yu gɛt grup we de sɔpɔt yu. Yu kin gɛt kɔmfɔt we yu tɔk to pɔsin we sabi bɔt mɛntɛl hεlth ɔr jɔyn sɔpɔt grup. Yu mɛdikal tim rɛdi fɔ ansa ɔl yu kwɛstyɔn dɛn ɛn ɛp yu fɔ kam fɔ no dis lɔs.

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

Thanatophoric dysplasia na wan sik we rili kɔmpleks, we nɔ kin apin so ɔltɛm, ɛn we nɔ kin izi fɔ mama ɛn papa fɔ dil wit. We yu lan bɔt am, i kin rili kɔnfyus ɛn mek yu fred.

Di tin we impɔtant pas ɔl na fɔ no se nɔto yu wangren de. Dɔktɔ, nɔs, advays, ɛn yu famili ɛn padi dɛn de fɔ sɔpɔt yu insay dis tɛm.

• Bɔku tɛm, dis kin apin bikɔs ɔf wan random jenɛtik mutation. Dis min se nɔto yu fɔlt.
• Tεst dεm de we dεn kin du bifo dεn bכn we kin no dis kכndyushכn we uman bεlε.
• di tritmεnt na fכ sכpכt di pikin in brith εn kכntrכl di simptom dεm.
• I rili impɔtant fɔ aks fɔ kɔyl fɔ pwɛl hat ɛn fɔ sɔpɔt yu maynd wɛl bɔdi we yu de dil wit lɔs lɛk dis.

Wi 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 yu dɔktɔ.

` thanatophoric dysplasia, jεnεtik kכndishכn, bכn difεkt, bon divεlכpmεnt, lכng divεlכpmεnt, FGFR3 jin, rεspiretכri fεil, prεnatal diagnosis, jεnεtik sik, bon divεlכpmεnt, lכng divεlכpmεnt, fetal hεlth