Yu pikin gɛt prɔblɛm wit in bon? Lɛ wi lan bɔt Diastrophic Dysplasia

Yu dɔn ɛva yɛri bɔt di wɔd dɛn we dɛn kɔl ``Diastrophic Dysplasia''? Dis kin bi nyu tin to yu. Bɔt dis na tin bak we nɔ kin apin so ɔltɛm ɛn we kin rili spɛshal we wi fɔ no bɔt. Tink bɔt am, sɔntɛnde we wi si tin dɛn lɛk se wi smɔl pikin dɛn an ɛn fut shɔt smɔl, ɛn di jɔyn dɛn nɔ ebul fɔ ɛkstɛnd fayn, wi kin rili fred, nɔto so? Dis na wan sik wae kin mek yu gɛt dis kayn sik. So, lɛ wi tɔk bɔt dis jɔs tide, insay wan we we yu go ɔndastand gud gud wan.

Wetin rili na dis diastrofik displasia?

Fɔ tɔk am simpul wan, distrofik displasia na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt di rayt divɛlɔpmɛnt fɔ di katilej ɛn bon . Na congenital , we min se dɛn bɔn pikin wit di sik. I kin pas fɔ lɔng lɔng tɛm.

Dis tin we kin apin kin mek pɔsin gɛt dɛn tin ya mɔ:

• Joint dysplasia : Dis min se di joyn dεm na wi bכdi nכ de divεlכp fayn.
• Di an ɛn leg dɛn we shɔt .
• Short ayt .
• abnכmal divεlכpmεnt fכ di skel sistεm (skel displasia).

Dis kכndyushכn kin afekt difrεn pat dεm na di bכdi. Fɔ ɛgzampul:

• Yes
• Fes
• Fut
• An dɛn
• Hip eria
• Leg dɛn
• Spine

Sɔntɛnde dɛn kin kɔl am `DD` ɔ `DTD`, `Diastrophic dwarfism`, ɔ `Diastrophic nanism syndrome`. Ilɛk aw i bi, i min di sem kɔndishɔn.

Aw dis sik nɔ kin apin so ɔltɛm?

Dis na rili wan sik we nɔ kin apin so ɔltɛm . Dɛn se na wan pan ɛvri 500,000 pikin dɛn we dɛn jɔs bɔn kin gɛt dis sik. Bɔt na sɔm kɔntri dɛn lɛk Finland, pipul dɛn kin si dis sik bɔku tɛm. Dɛn se di rizin fɔ dis na di tin dɛn we dɛn kin gɛt frɔm dɛn mama ɛn papa. Insay da kɔntri de, na wan pan ɛvri 30,000 pikin dɛn nɔmɔ dis sik kin afɛkt.

Wetin mek dis de apin? Wetin na di rizin fɔ dis?

Di men tin we kin mek pɔsin gɛt distrofik displasia na di jɛnɛtik muteshɔn . Dis na tin we pɔsin kin gɛt frɔm in mama ɛn papa. Dis min se if pɔsin na di famili gɛt am, chans de fɔ mek dɛn pikin dɛnsɛf gɛt am.

dis jεnεtik mכtεshכn de afekt wan jin we rili imכtant fכ divεlכpmεnt fכ di kכtilaj na wi bכdi. yu no se katilej na wan strכng εn fleksibul tisu we dεn kin yuz fכ bil di pikin in skel we di εmbrayo stej, dat na we i de na di mama in bεlε.

כl di kכtilaj dεm de tכn to bon we di pikin de gro. Bɔt di katilej kin stil de na say dɛn lɛk di ɛnd dɛn na di bon dɛn, di nos, ɛn di yes dɛn. so, we da jin mכtεshכn de apin, da jin de nכ kin kכntribyut fayn fayn wan fכ mek di katilej εn bon.

Us jin muteshon de afɛkt dis?

di spεsifi k jεnεtik mכtεshכn we de mek dis kכndyushכn, ``DTD,'' de apin insay di ``SLC26A2'' jin . dεn kכl am bak ``DTDST'' (distrofik displasia sכlfet transpכrta). dis jin de mek wan protin we de εp fכ bil di katilej εn kכnvכlt di katilej to bon.

di imכtant tin na fכ pכsin kin bi ``kכriכ`` fכ dis jin mכtεshכn, bכt i nכ gεt di sik. Bɔt if dɛn mama ɛn papa ɔl tu gɛt di sik, na lɛk 25% chans de fɔ mek dɛn pikin gɛt di sik.

Wetin na di sayn dɛm wae yu kin si pan dis kayn tin?

De sayn dɛm fɔ diastrophic dwarfism kin difrɛn frɔm pɔrsin to ɔda pɔrsin. Pan ɔl we bɔku pipul dɛn kin gɛt shɔt ayt ɛn nɔ kin gro fayn, ɔda sayn dɛn kin apin bak na difrɛn pat dɛn na dɛn bɔdi. Lɛ wi tek wan luk pan wetin dɛn bi.

Di sayn dɛm wae yu kin si arawnd di ed ɛn mɔt:

• Brayt fɔrɛst ɛn ay aylayn .
• Yu yes de tik, swel, ɔ chenj in shep .
• Abnɔmal smɔl jaw eria (micrognathia).
• Tit abnɔmal, fɔ ɛgzampul, smɔl ɔ krawd tit.
• Klɛft palata na we di ruf na di mɔt we nɔ de wok fayn.
• I nɔ kin izi fɔ yu fɔ blo .

Di kwaliti dɛn we di limb dɛn gɛt:

• di finga dεm we sכt we nכ nכmal (brachydactyly).
• "Hitchhiker's thumbs" – dat min se di thumbs dεn tכn aut.
• wan כ tu fut dεn de tכn insay (`clubfoot`). Dɛn kin kɔl dis bak klab fut .
• Shot ɛn drɔ an ɛn leg.

Di kwaliti dɛn we di jɔyn dɛn gɛt:

• di difכmishכn dεm na di jכyn dεm (` kכntrakt dεm` ) – dis kin mek di jכyn dεm nכ ebul fכ fulכp εkstendi εn i kin mek di muvmεnt dεm nכ muv.
• Sɔm jɔyn dɛn kin lɔk togɛda ɛn dɛn nɔ kin ebul fɔ muv . Dis kin mek bak i nɔ ebul fɔ muv.
• Joint stiffness or loosening , ɔ jɔyn dɛn we de kɔmɔt.
• Jɔyn pen we gɛt fɔ du wit ɔstiɔ-arayt.

Di tin dɛn we pɔsin kin du na di bak:

• di fכd kכva fכ di spayna (kyphosis), we kin mek di spayna luk hunched ova.
• Saydways kכva f כ di spayna (scoliosis).

Dis kin afɛkt di we aw di bren de gro?

Nɔ ripɔt nɔ de bɔt distrofik displasia we de afɛkt di bren ɔ di bren divɛlɔpmɛnt . Pipul wae gɛt dis sik kin gɛt nɔrmal intɛlijɛns . So natin nɔ de fɔ wɔri bɔt.

Aw dɛn kin no dis sik?

Sɔntɛnde, dɛn kin no distrofik dwɔfism bifo dɛn bɔn pikin . If pɔsin na yu famili gɛt dis sik, dɔktɔ dɛn kin se yu fɔ tɛst yu jɛnɛtiks kwik kwik wan we yu gɛt bɛlɛ.

dεn kin no di kכndyushכn bak bay we dεn de du fεtal כltra saund (fetal ultrasonography) . dis tεst de tek pikchכ fכ di pikin as i de divεlכp na di bεlε. If di pikchɔ dɛn sho ɛnitin we nɔ fayn ɔ we nɔ fayn na di bon dɛn, di dɔktɔ kin se dɛn fɔ tɛst dɛn jenɛtik fɔ si if dɛn gɛt distrofik displasia.

Bɔt bɔku tɛm, dɛn kin no dis sik afta dɛn bɔn di pikin . Dɛn kin no di sik bay we dɛn de chɛk di pikin in bɔdi ɛn tɛst we dɛn de tek imej we de sho se in bon dɛn dɔn pwɛl ɔ dɛn dɔn shɔt.

Wetin na di tritmɛnt fɔ dis?

Fɔ tru, no mɛrɛsin nɔ de fɔ DTD. Di tritmɛnt na fɔ kɔntrol di sik dɛn we ɛnibɔdi gɛt ɛn fɔ ɛp dɛn fɔ gɛt di bɛst wɛlbɔdi ɛn wɛlbɔdi.

Pɔsin we gɛt dis sik kin nid fɔ gɛt ɛp frɔm wan tim we gɛt spɛshal pipul dɛn . Fɔ ɛgzampul:

• Ɔdiɔlɔjis na spɛshal pɔsin we de trit prɔblɛm dɛn we pɔsin kin yɛri .
• Wan pɔsin we de advays di famili bɔt di jɛnɛtiks fɔ ɛp di famili fɔ ɔndastand dis tin we de apin.
• Di wan dɛn we sabi bɔt it kin gi advays bɔt aw fɔ it we yu gɛt prɔblɛm wit yu mɔt ɛn it.
• Ɔtodɔntist na spɛshal dɛntist we de trit prɔblɛm dɛn we gɛt fɔ du wit tit ɛn jaw.
• Wan ɔtpidist (bɔn ɛn jɔyn spɛshal pɔsin ).
• Wan dɔktɔ we de mɛn pikin dɛn .
• Di wan dɛn we de mɛn yu bɔdi ɛn di wan dɛn we de mɛn yu wok kin ɛp yu fɔ muv fayn fayn wan ɛn du tin dɛn we yu kin du ɛvride.
• Wan dɔktɔ we de stɔdi bɔt aw pɔsin in bɔdi ( dɔktɔ we spɛshal pan sik dɛn we gɛt fɔ du wit lɔng ) kin ɛp fɔ mek i nɔ ebul fɔ blo fayn.
• If nid de, dɔktɔ dɛn we de du ɔpreshɔn kin kɔrɛkt di tin dɛn we nɔ fayn.

Wit ɔl dɛn pipul ya ɛp, wi kin gi di pikin di sɔpɔt we i nid fɔ ɛp di pikin fɔ liv di bɛst layf.

Yu tink se we de fɔ mek dis nɔ apin?

No we nɔ de fɔ mek yu nɔ gɛt distrofik dwɔfism. If pɔsin na yu famili gɛt dis sik, i go fayn fɔ mek dɛn tɛst yu jɛnɛtiks bifo yu gɛt bɛlɛ.I fayn fɔ tɔk to yu dɔktɔ bɔt dis. Test ɛn advays kin ɛp fɔ no if yu na pɔsin we gɛt di sik ɛn aw i kin afɛkt yu famili.

So, aw layf go tan lɛk wit dis sityueshɔn?

Diastrophic dysplasia kin kil pikin dεm we dεn bכn we gεt kכmplikεshכn fכ brith . Bɔt bɔku pipul dɛn kin liv te dɛn big . Dipen pan aw de sik tranga, dɛn kin gɛt fɔ liv wit sɔm pen ɛn disabled. Bɔt if dɛn gɛt di rayt dɔktɔ ɛn sɔpɔt dɛn, dɛnsɛf go ebul fɔ liv gud layf.

Impɔtant kwɛstyɔn dɛn fɔ aks yu dɔktɔ

If yu pikin gɛt distrofik displasia, i impɔtant fɔ lan mɔ bay we yu aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• Us pat dɛn na mi pikin in bɔdi kin afɛkt?
• Dis na sɔntin we go afɛkt yu fɔ ɔl yu layf?
• Us kayn spɛshal pipul dɛn mi pikin fɔ si? Ɔmɔs tɛm?
• Ɛnitin de we wi kin du fɔ kɔntrol di pen we wi gɛt na di bon ɔ jɔyn dɛn?
• Sɔpɔt grup de fɔ pipul dɛm wae gɛt dis sik ɔr dɛn kayn sik ya?
• If a gɛt mɔ pikin dɛn, dɛn kin gɛt dis sik bak?

Fɔ dɔn, di tin we impɔtant pas ɔl fɔ mɛmba!

Dystrophic dysplasia na wan sik we nɔ kin apin so ɔltɛm, we dɛn bɔn wit we kin afɛkt di nɔmal divɛlɔpmɛnt fɔ di katilej ɛn bon dɛn . Bɔrku tɛm, pipul dɛm wae gɛt dis sik kin gɛt shɔt ayt, dɛn kin gɛt shɔt an ɛn fut, ɛn dɛn kin gɛt prɔblɛm wit dɛn jɔyn. If pɔrsin na yu famili gɛt dis sik, e fayn fɔ tɔk to dɔktɔ bɔt aw fɔ tɛst yu jɛnɛtiks ɛn aw fɔ advays yu.

Mɛmba se nɔto yu wangren de. Insay dis kayn tin, i rili impɔtant fɔ no di rayt infɔmeshɔn, gɛt di mɛrɛsin advays we yu nid, ɛn kɔnɛkt wit pipul dɛn we go sɔpɔt yu. Nɔr frayd fɔ aks dɔktɔ dɛn kwɛstyɔn ɛn aks fɔ ɛp.

` Diastrophic Dysplasia, Jɛnɛtik Diziz, Bɔn Grɔw, Katilaj, Shɔtnɛs, Jɔyn Disɔda