I tan lɛk se yu pikin shɔt pas ɔda pipul dɛn? Lɛ wi lan bɔt dis haypochondroplasia!

Mama ɛn papa dɛn, sɔntɛnde una kin fil se una smɔl pikin shɔt smɔl pas ɔda pikin dɛn we gɛt di sem ej? Ɔ, yu fil se ivin we yu pikin dɔn big, i nɔ lɔng lɛk aw yu bin de tink? Na nɔmal tin fɔ mek yu fred smɔl ɛn wɔri we tin dɛn lɛk dis kam na yu maynd. Tide wi go tɔk bɔt sɔntin we kin mek dis kayn tin apin, bɔt dɛn nɔ kin tɔk bɔt am bɔku tɛm.

Okay, wetin na dis haypochondroplasia?

Fɔ tɔk am simpul wan, haypochondroplasia na wan sik we de afɛkt di divɛlɔpmɛnt fɔ wi skel, dat na di skel sistɛm. Dɔktɔ dɛn kɔl dis sik skel displasia . Speshali, i kin afɛkt sɔntin we dɛn kɔl katilej . Mɛmba se katilej na sɔft kɔnektiv tisu we de protɛkt wi bon dɛn fɔ mek dɛn nɔ rɔb pan dɛnsɛf we wi de muv. Lɛk na wi yes ɛn nos. wetin kin apin pan dis kכndishכn na di kכtilaj we de na di lכng bon dεm na di an εn lεg dεm nכ de tכn to bon fayn fayn wan. Wi kɔl dis prɔses ɔsifikɛshɔn . so, we dis nכ de apin fayn fayn wan, di limb dεm de sכt sכmtεm, na dat mek dεn kכl am kכndishכn we de mek ‘sכt-limbed dwarfism’.

Aw dis sik kin kɔmɔn?

I at fɔ tɔk ɛksaktɔli ɔmɔs pipul dɛn kin gɛt haypochondroplasia. Bɔt stɔdi dɛn dɔn sho se i kin apin di sem we lɛk achondroplasia , we na wan sik we kin rili bad smɔl. Dɛn se dis sik kin afɛkt bitwin wan pan ɛvri 15,000 ɛn wan pan ɛvri 40,000 nyu bɔbɔ dɛn ɔlsay na di wɔl. Dat min se i nɔ rili kɔmɔn, bɔt i nɔ de bak.

Wetin na di sayn dɛm fɔ dis?

Bɔku sayn dɛn de na di bɔdi we kin ɛp fɔ no di haypochondroplasia. Bɔt dɛn sayn ya nɔr kin bi di sem fɔ ɔlman ɛn dɛn kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Na sɔm pan di sayn dɛn:

• Short stature: Short pas ɔda pikin dɛn we gɛt di sem ej.
• Wan ed we nɔ tu big: Di ed kin tan lɛk se i big smɔl we yu kɔmpia am wit di ɔda pat dɛn na di bɔdi.
• sכt an εn leg dεm: di כp an εn di tכŋ dεm spεshal wan de sho sכt.
• Waid an ɛn fut: Di an ɛn di fut kin wayd smɔl.
• Nɔ ebul fɔ ɛkstɛnd di an ful wan na di ɛlb: di ɛlbo muvmɛnt kin smɔl smɔl.
• Leg dεm we dεn butu: I kin tan lεk se di leg dεm bεn na do na di kכn dεm.
• di lכw bכk kכva (lordosis): di lכw bak kin kכba pasmak insay.

כltu, dis we aw di pikin de lכs ayt kin kכmכt we di pikin yכng, bitwin tu εn tri ia εn we dεn bigin skul. di avrej ayt fכ big man we gεt haypochכndroplasia na lεk 138 to 165 sεntimita (54-65 inch). Fɔ uman, i kin rich lɛk 128 to 151 sɛntimita (50-59 inch).

Pen na di joyn dɛm na di an ɛn leg kin apin ɔlsay na yu layf, mɔ afta yu dɔn du ɛksɛsayz.

Pan ɔl we dis nɔ kin apin so ɔltɛm, nɔto 10% pan di pipul dɛn we gɛt haypochondroplasia kin gɛt smɔl prɔblɛm fɔ lan ɛn dɛn kin gɛt prɔblɛm wit dɛn maynd frɔm we dɛn smɔl te dɛn big. Bɔt i impɔtant fɔ mɛmba se bɔku tɛm, dis sik nɔ kin afɛkt pɔsin in sɛns .

Ustɛm dɛn sayn ya kin apia?

Bɔku tɛm, dis shɔt ayt nɔ kin rili klia we di pikin yɔŋ . Bɔku tɛm i kin kam na di atɛnshɔn we di pikin dɔn big smɔl ɛn pas di maylston dɛm we i de gro, we min se i nɔ de gro lɛk ɔda pikin dɛm, ɔ we dɛn nɔ gɛt ‘grɔw spurt’ we dɛn ayt wantɛm wantɛm igen we dɛn yɔŋ.

Wetin na di rizin fɔ dis?

Di men tin we kin mek pɔsin gɛt haypochɔndroplasia na we di jɛnɛtik chenj . Bɔku tɛm, i kin apin bikɔs ɔf wan chenj na wan jin we dɛn kɔl FGFR3 jin . dis FGFR3 jin de εp fכ mek wan protin we nid fכ mek wi bon dεm gro εn mεnten. dis imכtant spεshal fכ di prכsεs fכ di כsifikכshכn, we na we di kכtilaj de tכn to bon. so, we chenj de na dis FGFR3 jin, dat protin de bi ova aktif εn i nכ kin εp di bon dεm fכ gro εn divεlכp fayn fayn wan.

Dis kכndyushכn kin pas dכn tru jεnereshכn. dis dεn kכl am כtosom dכminant patεn . Fɔ tɔk am simpul wan, if wan mama ɔ papa gɛt dis chenj na in jɛnɛtik, 50% chans de fɔ mek dɛn pikin gɛt am. כltu, mכst tεm, dεn chenj dεm ya na di FGFR3 jin de apin randomly (de novo) . Dis min se di jin chenj kin apin fɔ di fɔs tɛm, ivin if nɔbɔdi na di famili nɔ bin dɔn gɛt dis sik bifo.

insay wan rili sכm sכm kayn kes dεm, haypochכndroplasia kin apin we nכ chenj na di FGFR3 jin. pan dεn kayn tin ya, dεn kin tink se i kin bi fכ chenj na כda jin we dεn nכ no yet.

Udat dis tin we de apin de afɛkt?

Hypochondroplasia na wan sik we kin afɛkt ɛni pikin . As wi bin dɔn tɔk, di chenj na di jɛnɛtiks kin kɔmɔt frɔm mama ɛn papa, ɔ i kin apin bay wilful. Dɛn chenj ya we de apin na di jɛnɛtiks nɔto bikɔs ɔf sɔntin we di mama bin du we i gɛt bɛlɛ. Dɛn kin apin we wi nɔ bin de ɛkspɛkt.

Aw yu no dis?

Dɔktɔ kin no se i gɛt haypochondroplasia afta dɛn bɔn di pikin. dis na biכs di כltra saund skan we dεn du we uman bεlε kin shoDe sayn dɛm fɔ dis sik nɔr kin klia ɔltɛm. כltu, if di mama gεt haypochondroplasia εn dεn no di jεnεtik mכtεshכn we de mek am, dεn kin no di kכndyushכn we i bεlε tru wan CVS (chorionic villus sampling) tεst כ amniocentesis tεst.

Afta di pikin dɔn bɔn, di dɔktɔ go du wan ɛgzam fɔ di pikin in bɔdi. Dɛn kin du jenɛtik tɛst bak fɔ no di rayt jin we de mek di sik de.

Us tɛst dɛn kin du fɔ kɔnfirm dis?

Di dɔktɔ kin tɛl yu fɔ du bɔku tɛst fɔ no if yu gɛt haypochondroplasia. Dɛn tin ya na:

• X-ray: Fכ si aw di bon divεlכpmεnt de go.
• Jεnεtik tεst: Fכ no di jεnεtik vεryushכn we de rispansabl fכ di simptom dεm.
• MRI (magnεtik rεsכnans imej) כ CT skan (kכmpyuta tכmografi skan) tεst dεm: Chεk fכ spεnal kכv εn nεv kכmpreshכn.

Wetin na di tritmɛnt dɛm fɔ dis?

di tritmεnt fכ haypochכndroplasia na fכ kכntrכl di simptom dεm we kin mek i gεt kכmplikεshכn, lεk di bon dεm we nכ de gro fayn. Di tritmɛnt nɔr kin di sem fɔ ɔlman ɛn i kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin. Na dis na wetin yu kin du as tritmɛnt:

• כpεrayshכn fכ spεnal: sכmtεm, if wan pinch nerve de na di lכw bכk, lεk lumbar stenosis , dεn kin du כpεrayshכn lεk laminectomy εn dikompreshכn .
• Fizik tɛrapi: I impɔtant fɔ mek pɔsin ebul fɔ muv ɛn fɔ mek i ebul fɔ muv fayn fayn wan.
• Grɔw ɔmon tritmɛnt: Dɛn kin gi dis to sɔm pikin dɛn fɔ ɛp dɛn fɔ gro lɔng.
• Mɛrɛsin fɔ mek yu jɔyn dɛn nɔ fil pen: Na mɛrɛsin fɔ mek yu nɔ gɛt pen na yu jɔyn dɛn.

Sɔm famili ɛn pikin dɛn we gɛt haypochondroplasia kin si se i rili ɛp fɔ jɔyn sɔpɔt grup dɛn . Na fayn we fɔ tɔk to ɔda pipul dɛm wae dɔn gɛt dis kayn ɛkspiriɛns wit dɛn pikin in sik. Dɛn grup ya kin gi impɔtant infɔmeshɔn ɛn ɛdyukeshɔn bak bɔt wok, di rayt fɔ gɛt disabled, ɛn aw fɔ mɛn pikin.

If mi pikin gɛt haypochondroplasia, wetin a fɔ ɛkspɛkt?

Hypochondroplasia na wan sik wae de kam wae yu de liv yu layf wae yu nɔr kin ebul fɔ mɛn ɔltogɛda . Bɔt i nɔ kin afɛkt di pikin in layf , ɛn dɛn kin liv nɔmal layf.

Bɔrku tɛm, yu pikin in sayn dɛm kin sho wae i yɔŋ (we min se dɛn nɔr gɛt da sɔdɛn ‘grɔw spurt’ fɔ ayt). Dis min se dɛn shɔt pas ɔda pipul dɛn we ol.

Na nɔmal tin fɔ gɛt smɔl pen ɛn pen na say dɛn lɛk yu ni, ɛlb, ɛn anklɛ afta yu dɔn du ɛksɛsayz. Ivin we pɔsin dɔn big, di jɔyn dɛn nɔ kin fil fayn ɛn i kin fil pen as tɛm de go.

Yu pikin in dɔktɔ go de wach yu pikin ɔltɛm aw i de gro ɛn tɛl yu aw fɔ mɛn yu pikin fɔ kɔntrol di sik dɛn we i de sho.

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

Bikɔs haypochondroplasia na di rizɔlt fɔ wan random jenɛtik chenj, rili no we nɔ de fɔ mek dɛn nɔ gɛt dis sik pas di man ɛn in wɛf du sɔntin lɛk fɔ tɛst dɛn jɛnɛtik bifo dɛn put dɛn .

Bɔt if yu smok ɔ yu gɛt kemikal dɛn we yu gɛt bɛlɛ, di risk fɔ bɔn pikin we gɛt wan sik we yu gɛt wit in jɛnɛtiks kin bɔku. Dis na di rɔŋ we aw pipul dɛn kin tink.

If yu de plan fɔ bɔn pikin, i go fayn fɔ mek yu tɔk to yu dɔktɔ bɔt di prɔblɛm we kin apin we yu bɔn pikin we gɛt wan sik we dɛn kɔl jenɛtik.

Ustɛm a fɔ go to dɔktɔ?

If dɛn dɔn no se yu pikin gɛt haypochondroplasia, ɛn if di sik dɛn so bad dat di pikin nɔ ebul fɔ du ɛnitin ɛvride, ɔ if i de fil bad bad wan, mɔ na in an ɛn leg, yu fɔ rili go to dɔktɔ.

Dɔn bak, if dɛn nɔ dɔn no se yu pikin gɛt haypochondroplasia, bɔt i de mis di divɛlɔpmɛnt maylston fɔ in ej – fɔ ɛgzampul, i nɔ gɛt ‘grɔw spurt’ – mek yu dɔktɔ no.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

Yu kin aks di dɔktɔ kwɛstyɔn dɛn lɛk:

• A de pan denja fɔ gɛt ɔda pikin we gɛt haypochondroplasia?
• Mi pikin nid tritmɛnt?
• Yu tink se dɛn nid fɔ du ɔpreshɔn pan mi pikin?
• Ɛni bad tin de we di tritmɛnt kin du?
• Yu kin rɛkɔmɛnd wan sɔpɔt grup?

Wetin na di difrɛns bitwin Hypochondroplasia ɛn Achondroplasia?

haypochondroplasia εn achondroplasia na dεn tu jεnεtik kכndishכn dεm we di FGFR3 jin de kכz . Dɛn tu tin ya kin afɛkt di we aw pɔsin in bon de gro ɛn aw i ay. Bɔt, haypochondroplasia na wan kayn we we nɔ kin izi fɔ akɔndroplasia . Dis min se di sayn dɛm nɔr kin so bad.

Pikin dɛm wae gɛt haypochondroplasia nɔr kin mis fɔ du tin dɛm wae dɛn kin du ɛvride we dɛn smɔl bikɔs ɔf dɛn kɔndishɔn. Bɔku pikin dɛn kin jɔs shɔt pas dɛn kɔmpin dɛn ɛn dɛn nɔ kin gɛt ɛni big sayn we kin mek dɛn day. Bɔt we dɛn go skul, dɛn kin de pan denja fɔ lɛ ɔda pikin dɛn buli dɛn . So, i impɔtant fɔ sɔpɔt dɛn ɛn if nid de, tɔk to pɔsin we de gi advays bɔt dɛn maynd . I kɔmɔn fɔ mek famili dɛn we gɛt pikin we gɛt haypochondroplasia fɔ fɛn sɔpɔt grup usay dɛn kin kɔnɛkt wit ɔda pipul dɛn ɛn lan frɔm dɛn ɛkspiriɛns.

If yu de op fɔ gɛt pikin ɛn yu want fɔ ɔndastand di prɔblɛm we kin apin we yu gɛt pikin we gɛt wan sik, go to yu dɔktɔ fɔ tɔk bɔt aw fɔ tɛst yu jɛnɛtiks.

So, wetin na di impɔtant tin dɛn we wi fɔ kɛr go na os frɔm dis stori?

Hypochondroplasia na wan jεnεtik kכndyushכn we de afekt pikin in ayt, bכt i nכto kכndyushכn we de fכ in layf. Di pikin kin liv nɔmal layf.

• Bɔku tɛm, dis kin apin bikɔs ɔf wan random chenj na di jɛnɛtiks, so nɔ tink se na bikɔs ɔf sɔntin we una bin du as mama ɛn papa.
• Di sayn dɛm nɔr kin shɔt, di men tin na shɔt ayt. Bɔku tɛm, dɛn nɔ kin afɛkt di sɛns we pɔsin gɛt.
• Dɛn kin kɔntrol di sik dɛn wit di rayt mɛrɛsin ɛn tritmɛnt if nid de.
• I rili impɔtant fɔ lɛk ɛn sɔpɔt yu pikin, ɛn fɔ aks fɔ sɔpɔt frɔm sɔpɔt grup dɛn if nid de. Dis go ɛp dɛn fɔ gɛt gud kɔnfidɛns pan dɛnsɛf.
• If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ shek fɔ tɔk to yu famili dɔktɔ . Dɛn go gi yu di rayt gayd.

` Hypochondroplasia, pikin ayt, sכt ayt, jεnεtik sik dεm, bon divεlכpmεnt, FGFR3 jin, kכtilaj