Yu de wɔri bɔt aw yu pikin de gro? Mek wi lan bɔt (Achondroplasia)!

Yu tink se yu smɔl pikin shɔt smɔl pas ɔda pikin dɛn? Ɔ yu dɔn notis se yu pikin in an ɛn fut dɛn shɔt smɔl? Sɔntɛnde, na nɔmal tin fɔ mek yu fred smɔl we yu si tin dɛn lɛk dis. Tide wi go tכk bכt wan jεnεtik kכndishכn we dεn kכl `(Achondroplasia)`, we de afekt di pikin dεm we de gro. I rili impɔtant fɔ mek yu no gud gud wan bɔt dis.

Wetin na `(Akɔndroplasia)`? Lɛ wi ɔndastand am simpul wan!

Okay, naw mek wi si wetin dis `(Achondroplasia)` bi. Tink bɔt dis, di tɛm we di pikin de na di bɛlɛ, bɔku tɛm di pikin in skel na wan sɔft tisu we dɛn kɔl katilej . Na da tɛm de nɔmɔ dis katilej kin tɔn smɔl smɔl to strɔng bon, dat na bon. insay di kes fכ `(Achondroplasia)`, wetin de apin na dat dis kכtilaj tisu na yu pikin in an εn leg dεm nכ de tכn to bon fayn fayn wan. Fɔ tɔk am simpul wan, smɔl prɔblɛm de we dɛn de tɔn di katilej to bon.

Dis na wan jenɛtik kɔndishɔn , wan jenɛtik disɔda. dis kin mek di pikin in an εn leg in lεngth dכn mεntal wan. spεshal wan, di כp pat pan di an dεm (an dεm) εn di כp pat pan di leg dεm (thighs) kin sכt pas di lכw pat dεm na di sem limb dεm. Dɔktɔ dɛn kin kɔl dis `(rayzomelic shortening)`. Dis na di rizin we mek wi kin kɔl dis kɔndishɔn bak ``shɔt-limb dwarfism``.

Wetin na di difrɛns bitwin `(Achondroplasia)` ɛn `(Skeletal Dysplasia)` (dwarfism)?

Yu kin dɔn yɛri di wɔd `(Skeletal Dysplasia)`. Sɔm pipul dɛn kin kɔl am bak "dwarfism." `(Skeletal Dysplasia)` na rili big ɔmbrela. I de kɔba ɔndrɛd difrɛn tin dɛn we de afɛkt di divɛlɔpmɛnt fɔ di bon ɛn di katilej. So, `(Achondroplasia)` na wan pan di kayn dεm we kכmכn fכ `(Skeletal Dysplasia)` . insay `(Achondroplasia)`, di bon we de gro de spεshal tכk na di an εn lεg dεm. Dɔn gɛt am?

dis kכndyushכn we dεn kכl ``Achondroplasia'' na frεm dεm?

Dis na prɔblɛm we bɔku mama ɛn papa dɛn gɛt.

• di gud nyus na dat , insay mכst kes dεm (bכt 80%) `(Achondroplasia)` nכ de inhεrit. Ivin mama ɛn papa dɛm wae gɛt nɔrmal ayt ɛn nɔr gɛt ɔda prɔblɛm kin gɛt pikin wit dis sik. Dis kin apin bikɔs nyu chenj na di pikin in jin. Dɔktɔ dɛn kin kɔl dis `(de novo mutation)`. Dɛn kayn mama ɛn papa dɛn ya nɔ kin rili gɛt pikin we gɛt dis sik bak.
• כltu, if wan pan di mama εn papa gεt di kכndyushכn `(Achondroplasia),` di pikin gεt 50% chans fכ gεt di kכndyushכn. dis dεn kכl am `(autosomal dominant)` inhεrit. Dis min se di sik jin kin afɛkt ivin if na wan pan di mama ɛn papa nɔmɔ gɛt am.
• If mama ɛn papa ɔl tu gɛt achondroplasia, di tin kin kɔmplikt smɔl. afta dat, 25% chans de fכ mek di pikin gεt wan mכr siriכs kכndyushכn we dεn kכl homozygous achondroplasia. Dis bad bad sik kin mek di pikin bɔn we i day ɔ day jɔs afta dɛn bɔn am.

De tin wae impɔtant pas ɔl na fɔ gɛt kɔyl fɔ yu jɛnɛtiks if yu gɛt ɛni dawt bɔt dis sik. Da we de yu go ebul fɔ no di rayt tin dɛn.

Ɔmɔs pipul dɛn kin gɛt dis sik (Achondroplasia)?

Dis nɔto tin we rili kɔmɔn. Fɔ tɔk smɔl, dis sik kin afɛkt wan pan ɛvri 15,000 to wan pan ɛvri 40,000 pikin dɛn we dɛn bɔn ɔlsay na di wɔl .

Aw `(Achondroplasia)` kin afɛkt pikin in bɔdi?

di pikin dεm we gεt dis kכndyushכn kin gεt sכm mכsul dεm we wik (hypotonia) we dεn bכn dεm. Dis kin mek di mכtalman skil dεm delay lεk fכ kray, sidon, εn waka. Dis na nɔmal tin, bɔt na sɔntin we wi fɔ de wach pan.

pan tap dat, dεn pikin ya kin gεt bכku risk fכ kכmpreshכn spεnal kכd εn כp rεspiretכri blכk we dεn pikin, we kin mek dεn gεt bכku hεlth prכblεm dεm.

Ɔda tin dɛn we pipul dɛn kin si na:

• I nɔ kin izi fɔ yu fɔ blo.
• Infekshɔn na yu yes bɔku tɛm.
• Fɔ gɛt ay tendency fɔ bi fat.

So, i rili impɔtant fɔ mek dɛn de chɛk ɔl di pikin dɛn we gɛt ``(Achondroplasia)`` ɔltɛm ɔnda di klos we dɔktɔ de kia fɔ dɛn. Na da tɛm de nɔmɔ dɛn go ebul fɔ no di sayn dɛm we pɔsin kin gɛt kwik kwik wan ɛn trit ɔ avɔyd.

Wetin kin mek `(Achondroplasia)`?

Di men tin we kin mek dis sik na di jin we kin chenj . wi bכdi gεt spεshal `(rεsεpכta)` we de εp fכ kכnvכlt kכtilaj to bon di tεm we di εmbrayo de stej. wan mכtayshכn na di jin we dεn kכl `(FGFR3)` we de kכntro dis `(rεsεpכta)` na di men kכz fכ `(Achondroplasia). Fɔ tɔk am simpul wan, di signal we de chenj di katilej to bon nɔ de go tru fayn fayn wan.

Wetin na di sayn dɛm fɔ `(Achondroplasia)`?

Bɔku kɔmɔn kwaliti dɛn de we dɛn kin si pan pikin dɛn we gɛt dis sik:

• di bon dεm na di an εn leg dεm we de sכt (especially di thighs εn di כp an dεm).
• Di an ɛn di leg dɛn shɔt pas aw i kin bi.
• big gap kin de bitwin di midul finga (tכd finga) εn di ring finga (fכs finga) (dεn kכl am bak `trident hand`).
• Di avrej maksimal ayt we pɔsin big na 4 fit (lɛk 122 sɛntimita) .
• di ed big pas nכmal (macrocephaly).
• di fכs de kכmכt fכ go bifo (`frontal bossing`).
• di bays fכ di nos na flat (`midface hypoplasia`).
• di divεlכpmεnt dεlay we dεn sכmtεm (e.g., fכ sidon, krawl, waka kin leta pas כda pikin dεm).

Wetin na di lכng tεm ifekt dεm fכ `(Achondroplasia)`?

Fɔ liv wit dis sik kin gɛt sɔm kayn ifɛkt fɔ lɔng tɛm, wae impɔtant fɔ no bɔt:

• Bak ɛn leg pen.
• difεlεns fכ brith, spεshal wan we yu de sכt we yu de blo we yu de slip (`apnea`).
• Fat.
• Infekshɔn na yu yes bɔku tɛm.
• di kכva fכ di spayna (spinal stenosis כ kyphosis).
• Bεnd di leg dεm insay כ autsay lεk bכw (`bowed legs`).
• Sɔntɛnde, ɛkstra wata kin gɛda rawnd di bren (haydrosɛfalɔs).
• Obstructive sleep apnea (dizayd we yu de blo we kin mek yu nɔ ebul fɔ blo we yu de slip).

Nɔto ɔl dɛn tin ya kin apin to ɔlman, bɔt i impɔtant fɔ no bɔt dɛn ɛn go to dɔktɔ if nid de.

Aw ali dɛn kin no se akɔndroplasia?

bכku tεm, di כltra saund skan we dεn du we di pikin stil de na di bεlε kin mek pipul dεn sכspεshכn bכt di kכndyushכn ``(Achondroplasia).`` Dat min se, dכkta dεn kin sכspεkt dis if, tכwεd di εnd fכ di bεlε, di pikin in limb dεm de sho sכt pas nכmal εn di ed de sho se i big. Bɔt bɔku tɛm, dɛn kin rili kɔnfirm di sik bay di tɛst dɛn we dɛn kin du afta dɛn bɔn di pikin.

Aw dɛn kin no di kɔndishɔn `(Achondroplasia)`?

Dɔktɔ dɛn kin yuz bɔku tɛst dɛn fɔ no if pɔsin gɛt akɔndroplasia:

• fכ egzamin in bכdi: dεn de egzamin di pikin in fכshal kכntribyushכn (lεk in sכt limb dεm, big ed).
• X-ray: Dɛn kin yuz ɛkstrem rayt fɔ luk aw di bon dɛn shep ɛn aw i de gro.
• jεnεtik tεst: dεn de du dis tεst fכ kכnfכm if mכtεshכn de insay di jin we dεn kכl `(FGFR3)`. Dis na di we we spɛshal pas ɔl.
• if wan pan dεn mama εn papa gεt dis kכndyushכn, dεn kin no am bak tru spεshal tεst dεm we dεn kin du we dεn bεlε (prenatal diagnosis).
• Sɔntɛnde, dɛn kin du MRI (magnetic resonance imaging) ɔ CT (computerized tomography) skan fɔ luk fɔ tin dɛn lɛk we di mɔsul dɛn wik ɔ we di spɛnal nɛv kɔmpreshɔn.

Wetin na di tritmɛnt dɛm fɔ `(Achondroplasia)`?

so fa, dεn nכ fכnshכn nכ spεsifi k tritmεnt we go kכmplit kכl di kכndyushכn `(Achondroplasia).` Dis min se di jεnεtik chenj we de mek dis kכndyushכn nכ kin rivεs. Bɔt dat nɔ min se dɛn nɔ go ebul fɔ du natin.

Di men gol fɔ tritmɛnt na fɔ manej di sayn dɛm ɛn kɔmplikeshɔn dɛm wae kin kam wit dis sik ɛn fɔ ɛp di pikin fɔ liv wɛl ɛn kɔmfyut layf as i pɔsibul.

Dɔktɔ dɛn kin wach aw pikin de gro frɔm di biginin bay we dɛn kin mɛzhɔ in ayt, in wet, ɛn in ed ɔltɛm.

Yu tink se kɔmplit mɛrɛsin de fɔ di kɔndishɔn `(Achondroplasia)`?

As wi bin dɔn tɔk, naw, no mɛrɛsin nɔ de fɔ mɛn di sik we dɛn kɔl achondroplasia. Bɔt dis nɔ fɔ mek yu at pwɛl. Bɔrku pipul dɛm wae gɛt achondroplasia kin liv ful, wɛl bɔdi, ɛn gladi layf.

Aw fɔ manej di simptom dɛm fɔ `(Achondroplasia)`?

Fɔ kɔntrol di sayn dɛm na di tin we impɔtant pas ɔl na ya. Dat min se yu fɔ no bɔt di prɔblɛm dɛn we kin apin ɛn tek stɛp fɔ mek yu nɔ gɛt dɛn. Fɔ ɛgzampul:

• We yu de kɔntrol yu wet: Bikɔs fɔ fat kin bi prɔblɛm we kin kam wit dis sik, i rili impɔtant fɔ mek yu it fayn ɛn fɔ de du tin.
• Ɔpreshɔn:
• if wata we de kכmכt rawnd di bren (haydrocephalus), dεn kin du כpεrayshכn we dεn kכl vεntrikulopεritoneal shunt fכ ridyus di prεshכn.
• כpεrayshכn kin nid bak pan kes dεm we di nεv kכmpreshכn na di tכp pat pan di nεk (kraniocervical junction compression) kin mek yu layf de pan denja.
• If yu gɛt infɛkshɔn na yu trot bɔku tɛm, yu kin nid fɔ du ɔpreshɔn fɔ pul di adenoid ɛn tonsils.
• Di ɔmon dɛn we de mek dɛn gro: Dɛn kin gi sɔm pikin dɛn tritmɛnt ɔmon we de mek dɛn gro. Dis kin ɛp fɔ mek yu ayt go ɔp to sɔm mak, bɔt nɔto ɔlman kin gɛt di sem tin. Yu fɔ tɔk to yu dɔktɔ bɔt dis.
• Fɔ prɔblɛm wit yu brith (apnea): If yu gɛt prɔblɛm fɔ blo we yu de slip, dɛn kin se yu fɔ yuz mashin we dɛn kɔl CPAP (Continuous Positive Airway Pressure).
• Fɔ yu yes infɛkshɔn: If yu gɛt infɛkshɔn na yu yes bɔku tɛm, dɛn kin gi yu ia tyub ɔ antibayɔtik.
• Sɔshial sɔpɔt: I rili impɔtant fɔ gi di pikin di saykolojik sɔpɔt we i nid fɔ bia wit di sosayti ɛn fɔ gɛt gud padi biznɛs wit ɔda pipul dɛn.
• Risach: Dɛn de du risach naw bɔt nyu mɛrɛsin dɛn we kin mek pɔsin in ayt smɔl mɔ.

A kin ridyus di risk fɔ mek mi pikin gɛt akɔndroplasia?

Bɔku tɛm, akɔndroplasia kin kam bikɔs ɔf wan random, nyu jɛnɛtik mutation, so no we nɔ de fɔ mek dɛn kayn random tin ya nɔ apin. Dat min se yu nɔ go ebul fɔ kɔntrol am.

Bɔt if wan pan yu mama ɛn papa gɛt achondroplasia, we dɛn de fɔ ridyus di risk fɔ mek yu pikin gɛt dis sik. Wan ɛgzampul na wan we we dɛn kɔl prɛ-implant jenɛtik tɛst (PGT). dis min fכ mek wan εmbrayo εn tεst in jin dεm bifo dεn put am na di mama in bεlε. Yu kin aks yu OB/GYN prɔvayda ɔ yu jenɛtik kɔlnɔ fɔ mɔ infɔmeshɔn bɔt dis.

Wetin na di layf we pɔsin we gɛt `(Achondroplasia)` kin liv?

Dis na big tin we de mɔna bɔku pipul dɛn. Laki, bɔrku pipul dɛm wae gɛt achondroplasia de liv nɔrmal layf span. Dɛn sɛns bak na nɔmal tin. Pan ɔl we sɔm tin dɛn kin de we kin mek dɛn nɔ ebul fɔ gro fayn we dɛn smɔl, dis nɔ kin afɛkt dɛn sɛns.

Na tru se achondroplasia kin mek sɔm prɔblɛm dɛn wit wɛlbɔdi biznɛs. Bɔt if dɛn kɔntrol dɛn sayn dɛn de fayn fayn wan, dɛn kin ebul fɔ avɔyd siriɔs wɛlbɔdi prɔblɛm dɛn leta we dɛn dɔn day.

Aw a go ɛp mi pikin wit `(Achondroplasia)`?

Pikin dɛm we dɛn no se gɛt achondroplasia gɛt di ful pawa fɔ liv gladi, wɛlbɔdi, ɛn fulfil layf. Di impɔtant tin dɛn we yu go du as mama ɔ papa na:

1. Fɔ kia fɔ yu pikin in mɛrɛsin nid dɛn: I impɔtant fɔ kɛr yu pikin go fɔ mek dɛn chɛk yu pikin di rayt tɛm ɛn gi am di tritmɛnt we i nid.

2. Fɔ mek di pikin gɛt lɔv ɛn aksept ples fɔ di pikin na os:

• Ridyus di tin dɛn we de ambɔg yu bɔdi: Mek smɔl chenj dɛn na di os fɔ mek i izi fɔ yu pikin fɔ du di wok dɛn we i de du ɛvride fɔ insɛf. Fɔ ɛgzampul, fɔ put stɛp stɔl nia di sink ɔ tɔylɛt, ɔ put layt switch ɛn domɔt knob usay yu pikin go ebul fɔ rich. Dis go mek yu pikin ebul fɔ du mɔ fɔ insɛf .
• Fɔ gi pikin sɔpɔt pan saykilɔjik ɛn ɛdyukeshɔn: Ɔda pipul dɛn kin buli pikin, ilɛksɛf na skul ɔ ɔdasay. Nɔ mek dɛn kayn tin ya apin, mek di pikin gɛt kɔnfidɛns, ɛn gi di ɛp we i nid fɔ lan buk.
• Kɔnekt wit kɔmyuniti grup ɛn ɔganayzeshɔn fɔ pipul dɛn we gɛt dwɔf: Yu ɛn yu pikin kin gɛt bɔku infɔmeshɔn, ɛkspiriɛns, ɛn sɔpɔt frɔm dɛn kayn ples dɛn ya.

Ustɛm a fɔ go to mi dɔktɔ?

Di bɛst we fɔ mek yu nɔ gɛt ɔ ridyus di bɔku bɔku sik dɛn we kin kam wit di sik we dɛn kɔl achondroplasia na fɔ go na dɔktɔ ɔltɛm frɔm we yu yɔŋ.

If yu si dɛn tin ya pan yu pikin, go to dɔktɔ wantɛm wantɛm:

• If, we di pikin smɔl, di pikin in ayt nɔ de go ɔp insay in ej , ɔ if i let fɔ pas fyzikal maylston dɛm lɛk fɔ sidɔm, kray, ɛn waka (`divɛlɔpmɛnt dilɛys`).
• If yu pikin gɛt prɔblɛm fɔ blo , i kin gɛt infɛkshɔn na in yes bɔku tɛm , i kin gɛt pen na in bak ɛn in leg ɔ if yu tink se i de pan denja fɔ fat .

Mɛmba se i rili impɔtant fɔ mek yu tink gud wan we yu de kia fɔ yu pikin in wɛlbɔdi prɔblɛm dɛn. If yu trit yu pikin di we we fit in ej, we yu nɔ de put am na kɔna ɔ luk aw i ay, dat kin go fa fɔ mek i gɛt rɛspɛkt fɔ insɛf.

Fɔ dɔn, mɛsej we yu kin kɛr go na os

Pan ɔl we akɔndroplasia na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, i nɔ kin mek pɔsin in layf de pan denja.

• I rili impɔtant fɔ mek dɛn no gud gud wan bɔt dis tin we de apin.
• I impɔtant fɔ gi di pikin di mɛrɛsin ɛn sɔpɔt we i nid .
• Bɔrku kɔmplikɛshɔn kin avɔyd bay wae dɛn no ɛn manej di sik wae de kam fɔs.
• We dɛn mek ples we pikin dɛn lɛk, sɔpɔt, ɛn gri wit dɛn na os ɛn na sosayti, dɛn go ebul fɔ liv gladi layf layf we go mek dɛn gladi.
• Mɛmba se nɔto yu wangren de. Aks sɔpɔt frɔm dɔktɔ, advays, ɛn mama ɛn papa fɔ pikin dɛn we gɛt dis sik.

Na nɔmal tin fɔ fil bad ɛn fred we yu kam fɔ no se yu pikin gɛt akɔndroplasia. Bɔt if yu gɛt di rayt infɔmeshɔn ɛn sɔpɔt, yu ɛn yu pikin go ebul fɔ waka na dis waka fayn fayn wan.

` Achondroplasia, dwarfism, skel dysplasia, jεnεtik sik dεm, bon divεlכpmεnt, FGFR3 jin, pikin divεlכpmεnt, haypotonia, haydrosεfalus, slip apnia