Yu de wɔri bɔt aw yu pikin in shɔt ayt? Lɛ wi lan bɔt Pseudoachondroplasia!

Sɔntɛnde, yu kin tink se, ‘O, mi pikin shɔt smɔl pas ɔda pikin dɛn, nɔto so?’ Ɔ di dɔktɔ bin luk yu pikin in growth chart ɛn tɔk sɔntin lɛk, ‘Yu pikin in ayt dɔn kɔmɔt na di mak smɔl’? Sɔmtɛm lɛk dis, de kɔz kin bi wan sik wae dɛn kɔl pseudoachondroplasia, wae wi go tɔk bɔt tide. Pan ɔl we dis kin tan lɛk big wɔd, lɛ wi tɔk bɔt am simpul wan.

Fɔ tɔk am simpul wan, wetin na `(Pseudoachondroplasia)`?

Pseudoachondroplasia na, kwik kwik wan, wan jεnεtik kכndyushכn we nכ kin apin we kin afekt di growth fכ wi bon dεm. Dis na wetin kin mek sɔm pipul dɛn shɔt, ɔ ‘shɔt’ lɛk aw wi kin kɔl am. Sɔntɛnde, pɔsin kin gɛt am frɔm dɛn mama ɛn papa, ɔ i kin apin bak bay wilful.

di imכtant tin na dat ivin if pכsin we gεt `(Pseudoachondroplasia)` gεt sכt limb dεm pas nכmal, dεn fes fכm, ed saiz, εn intεlijεns na nכmal. Dis min se dis nɔ de afɛkt di sɛns. So nɔ wɔri bɔt am.

Ɔda nem dɛn de fɔ dis, ɛn yu go dɔn yɛri dɔktɔ dɛn de yuz dɛn nem ya:

• `(PSACH)`
• `(Syudoakɔndroplastik displasia)`
• `(Pseudoachondroplastic spondyloepiphyseal displasia sindrom)`

Dis na ɔl nem fɔ di sem tin we de apin.

Aw lɔng i go bi wit dis kɔndishɔn?

Bɔku tɛm, pikin we gɛt `(Pseudoachondroplasia)` nɔ kin shɔt we dɛn bɔn am. Dɛn bɔn dɛn nɔmal wan. Bɔt na we dɛn ol tu ia nɔmɔ dɛn kin bigin fɔ sho se dɛn ayt dɔn go dɔŋ smɔl we dɛn kɔmpia dɛn wit ɔda pikin dɛn. Dis min se dɛn kin bigin fɔ rayt di pikin in ayt se i shɔt pas ɔda pikin dɛn na di chɔt dɛn we dɔktɔ dɛn kin yuz fɔ gro.

As tɛm de go, ɔlmost ɔlman wae gɛt dis sik go shɔt pas aw avɛrej. Man kin tink se i go lɔng lɛk 3 fit 11 inch (1.19 mita), ɛn uman kin tink se i go lɔng lɛk 3 fit 9 inch (1.14 mita) .

Wetin na di difrɛns bitwin `(Pseudoachondroplasia)` ɛn `(Achondroplasia)`?

Yu kin dɔn yɛri bak bɔt wan sik we dɛn kɔl `(Achondroplasia)`. Dis na ɔda jɛnɛtik kɔndishɔn we kin mek pɔsin shɔt. Trade, dɛn bin de tek `(Pseudoachondroplasia)` ɛn `(Achondroplasia)` as di sem kɔndishɔn. Bɔt sɔm risach we dɛn jɔs dɔn du dɔn sho se pan ɔl we dɛn ɔl tu kin mek pɔsin shɔt, dɛn na tu difrɛn tin dɛn.

Achondroplasia de kכz bay wan mכtεshכn na difrεn jin. Pipul wae gɛt achondroplasia kin gɛt difrɛn kayn fes bak. Bɔt pan di kes fɔ pseudoachondroplasia, we wi de tɔk bɔt tide, dɛn kayn difrɛn fes ya nɔ kin apin.

Aw dis sik kin kɔmɔn?

Pseudoachondroplasia na wan sik we nɔ kin apin so ɔltɛm. Frɔm wetin sayɛnsman dɛn se, .Dis sik kin apin to lɛk wan pan ɛvri 30,000 ɔ wan pan ɛvri 100,000 pikin dɛn we dɛn bɔn. So i nɔto sɔntin we rili kɔmɔn.

Wetin mek dis `(Pseudoachondroplasia)` de divεlכp? Wetin na di tin dɛn we kin mek i apin?

Di men rizin fɔ dis na we wan jin na wi bɔdi chenj. fכ bi prεsis, dis kכndishכn de kכz bay wan mכtεshכn na di jin `(COMP)` (sכt fכ ``Cartilage Oligomeric Matrix Protein``).

naw yu kin de wanda wetin na dis `(COMP)` jin, wetin na dis `(chondrocytes)`. Jɔs tink bɔt am dis we:

Bifo bon dɛn fɔm na wi bɔdi, sɔntin de we dɛn kɔl katilej na dɛn ples dɛn de. Na tisu we kin fleksibul smɔl lɛk rɔba. di sεl dεm we de mek dis kכtilaj dεn kכl dεm `(chondrocytes)` . di jin `(COMP)` rili imכtant fכ dεn `(chondrocytes)` sεl dεm fכ wok fayn fayn wan εn fכ hεlty. jכs lεk aw yu nid gud brik fכ bil os, dεn `(chondrocytes)` sεl dεm ya nid fכ hεlty fכ di bon dεm fכ fכm fayn fayn wan.

Nɔmal wan, as di pikin de gro na di bɛlɛ, dis katilej kin tɔn smɔl smɔl to bon. Bɔt sɔm katilej dɛn kin stil de na wi bɔdi, mɔ fɔ protɛkt di jɔyn dɛn ɛn kɔba di ɛnd dɛn na di bon dɛn.

so, insay pכsin we gεt `(Pseudoachondroplasia)`, bikoz fכ di chenj we dεn mεnshכn na di `(COMP)` jin, abnכmal protin dεm de kכmכt insay dεn `(chondrocytes)` sεl dεm. Dɔn dɛn sɛl dɛn ya kin day kwik kwik wan. We dat apin, prɔblɛm kin kam na di jɔyn dɛn, ɛn di bon dɛn nɔ kin gro fayn. Na dat mek we pɔsin de lɔs in ayt ɛn ɔda prɔblɛm dɛn we gɛt fɔ du wit in bon kin apin.

dis `(COMP)` jin mכtεsh כn kin pas dכn sכmtεm frכm mama εn papa to pikin dεm. Dis min se if di mama ɔ di papa gɛt di sik, ɛni wan pan dɛn pikin dɛn gɛt lɛk 50% chans fɔ gɛt am. Wan ɔda spɛshal tin na dat, ilɛksɛf na wan pan di mama ɔ di papa nɔmɔ gɛt di sik, di pikin kin stil gɛt am.

b כt bכku tεm, dεn jεnεtik mכtεshכn ya kin apin randomly, dat na, dεn kin apin we nכ gεt nכ famili histri (spontaneous mutations).

Wetin na di sayn dɛm wae kin mek yu gɛt `(Pseudoachondroplasia)`?

bכku tεm, di sayn dεm fכ `(Pseudoachondroplasia)` nכ de si we dεn bכn am. As wi bin dɔn tɔk, di we aw pɔsin de si in fes, di ed saiz, ɛn di sɛns we i gɛt, ɔl na nɔmal tin. כltu , di skel abnכmaliti dεm kin bigin fכ apin bitwin 9 mכnt εn 3 ia. Dɔn dɛn sayn ya kin sho mɔ ɛn mɔ ɔl di tɛm we dɛn smɔl.

As tɛm de go, yu kin notis sɔm sayn dɛn lɛk dis:

• Di chenj we di leg dɛn shep: Sɔm pikin dɛn kin gɛt bɔw leg ɔ dɛn kin nak dɛn ni. Sɔntɛnde wan leg kin bi wan we ɛn di ɔda wan kin bi ɔda we (windswept deformity).
• di kכva fכ di spayna: Na kכndishכn we di spayna kכv to wan sayd (Scoliosis) כ kכv fכ go bifo (Kyphosis) kin apin. Dɛn tin ya kin mek yu gɛt bak pen ɛn i kin mek yu nɔ ebul fɔ blo fayn.
• di joyn laks εn stiffness: bכku joyn dεm (e.g., finga dεm, wrist dεm) kin lכs pas nכmal (joint laxity). Bɔt sɔntɛnde, di ɛlb ɛn hip kin stif smɔl.
• Jɔyn pen: Dis kin tɔn to ɔstiɔ-arayt as tɛm de go. Dis min se di joyn pen kin bɔku, mɔ we yu de ol.
• di nεk instεbiliti: Odontoid hypoplasia, na wan kכndyushכn we di כp pat pan di spayna nכ de divεlכp, kin mek di nεk instεbul. Dis na sɔntin we wi fɔ wɔri bɔt, bikɔs i kin pwɛl di nɛf dɛn na di nɛk.
• di an ɛn finga dɛn shɔt: di an ɛn finga dɛn kin shɔt pas aw i kin bi.
• Shortness: Dis na di kwaliti we impɔtant pas ɔl ɛn we klia pas ɔl.
• Skin fold: Na sɔm say dɛn, yu kin si ɛkstra fold dɛn na di skin.
• Di chenj we yu de chenj di we aw yu de waka: If yu hip bon dɛn nɔ de wok fayn, dat kin mek yu waka lɛk dɔk we yu de waka.

Dɛn sayn ya nɔr kin kam to ɔlman di sem we. Sɔm pipul dɛn kin gɛt sɔm pan de sik dɛn nɔmɔ, ɛn ɔda pipul dɛn kin gɛt mɔ pan dɛn. I kin difrɛn frɔm wan pɔsin to ɔda pɔsin.

Aw dɔktɔ dɛn kin no dis sik (Pseudoachondroplasia)?

Dɔktɔ kin no se i gɛt pseudoachondroplasia mɔ bay we i de chɛk di pikin ɛn tek ɛkstrem rayt fɔ luk aw di bon ɛn jɔyn dɛn de. εks-ray kin si klia wan aw di bon dεm shep εn di gro, εn εni spεshal chenj we de na di εnd dεm na di bon dεm.

apat frכm dat, dεn kin du jεnεtik tεst fכ kכnfכm if di jin mכtεshכn (insay di COMP jin) we de mek dis kכndyushכn de. Bɔku tɛm, dis kin min fɔ tek blɔd sɛmpul.

if pכsin na di famili gεt `(Pseudoachondroplasia)`, dat na if yu de na famili we gεt hכy risk fכ gεt dis kכndyushכn, dεn kin du jεnεtik tεst di tεm we di εmbrayo de. Dat min se we di pikin stil de na di bɛlɛ. Dɛn kin du dis bay we dɛn de yuz tɛst we dɛn kɔl `(Chorionic Villus Sampling)` ɔ `(Amniocentesis) .` Dɛn kin du dis na tɛst we dɛn kin du nɔmɔ if nid de, pan spɛshal dɔktɔ dɛn advays.

Wetin na di tritmɛnt dɛm fɔ di kɔndishɔn `(Pseudoachondroplasia)`?

Di tritmɛnt fɔ pseudoachondroplasia de dipen pan aw di sik siriɔs ɛn yu ɔl wɛl bɔdi. Sɔntɛnde, dɛn nɔ nid ɛni patikyula tritmɛnt, dɛn kin jɔs de wach am ɔltɛm fɔ si if kɔmplikeshɔn dɛn kin kam. Bɔt sɔm pipul dɛn kin nid tritmɛnt. Di tritmɛnt kin inklud:

• Pen kila: Dɛn kin gi pen kil lɛk ``Analgesics`` fɔ ridyus di pen na di jɔyn.
• Kכrekshכn fכ di spεnal kכvεtכr dεm:if di spayna kכva (scoliosis, kyphosis), dεn kin gi dεm spεshal sכpכt (braces) fכ wear, כ dεn kin kכrekt dεm tru כpεrayshכn.
• Kɔnsul: I rili impɔtant fɔ fɛn kɔyl fɔ dil wit di saykososial ifɛkt dɛm we shɔt ayt kin gɛt. Dis impɔtant fɔ di pikin ɛn in mama ɛn papa.
• Jɛnɛtik advays: Bikɔs dis sik kin afɛkt ɔda pipul dɛn bak na di famili, i fayn fɔ go fɛn jenɛtik advays fɔ dɛn. Dis go ɛp fɔ plan famili tumara bambay.
• Fizik tritmɛnt ɛn ɔkupeshɔn tɛrapi: Fizik tɛrapi ɛn ɔkupeshɔn tɛrapi kin ɛp yu fɔ mek yu gɛt mɔ trɛnk, fɔ mek yu jɔyn dɛn ebul fɔ chenj, ɛn fɔ du di wok dɛn we yu de du ɛvride izi wan.
• Ɔpreshɔn fɔ bon ɛn jɔyn prɔblɛm dɛn: Dɛn kin nid fɔ du ɔda ɔpreshɔn dɛn we gɛt fɔ du wit di jɔyn dɛn, lɛk fɔ riples di hip ɛn fɔ pul di ni ɔsteotomy . Dɛn tin ya kin mek di pen nɔ bɔku ɛn mek di jɔyn dɛn wok fayn.
• di spayna εn nεk stεbyulεshכn כpεrayshכn: if instεbiliti de na di nεk εn spayna, dεn kin du כpεrayshכn fכ fכ stebul tu כ mכr vεrbra dεm bay we dεn fכs dεm tכgeda.

Nɔto ɔlman nid dɛn tritmɛnt ya di sem we. Yu mɛdikal tim go disayd di tritmɛnt plan we go fayn fɔ yu.

Aw di fiuja go tan lɛk fɔ pɔsin we gɛt `(Pseudoachondroplasia)`?

Dis na tin we de kɔrej bɔku pipul dɛn. di kכndyushכn `(Pseudoachondroplasia)` nכ de afekt yu intellektual divεlכpmεnt כ layfspan. Pipul dεm we gεt `(Pseudoachondroplasia)` kin liv aktif, prodaktiv layf. Bɔku pan dɛn gɛt dɛn yon famili layf bak. So natin nɔ de fɔ wɔri bɔt. Di men tin na fɔ no di prɔblɛm dɛn we kin apin kwik kwik wan ɛn trit dɛn fayn fayn wan.

Yu tink se we de fɔ mek dis tin nɔ apin?

Bikɔs pseudoachondroplasia na bikɔs ɔf wan jenɛtik muteshon, rili no we nɔ de fɔ mek i nɔ apin kpatakpata.

if yu gεt dis kכndyushכn, if yu gεt bεlε, na lεk 50% chans de fכ mek yu pikin gεt dis jin. as wi bin dכn tכk, we dεn tεst di jεnεtik bifo dεn bכn, i kin no dis jin mכtεshכn. Yu dɔktɔ kin tɛl yu bak se yu fɔ gɛt advays bɔt yu fambul dɛn we de nia yu.

Aw yu kin tek kia ɔf yusɛf ɛn yu pikin wit `(Pseudoachondroplasia)`?

If yu ɔ yu pikin gɛt pseudoachondroplasia, yu kin tek kia ɔf yusɛf fayn fayn wan bay we yu:

• Di mɛdikal tɛst dɛn we dɛn dɔn arenj fɔ du:Atɛnd ɔl di fɔlɔp tɛst dɛn we yu dɔktɔ tɛl yu fɔ du. Dis go ɛp yu fɔ wach yu wɛl bɔdi ɛn no ɛni prɔblɛm kwik kwik wan.
• Nɔ du tin dɛn we go ambɔg yu jɔyn dɛn: Nɔ du tin dɛn we de mek yu fil pen ɛn put strɛs we nɔ nid pan di jɔyn dɛn as yu ebul. Fɔ ɛgzampul, kɔntakt spɔt ɛn spɔt dɛn we gɛt fɔ du wit fɔ jomp pasmak nɔ fayn.
• Tek kia ɔf yu nɛk: Nɔ bɛn yu nɛk tumɔs, bikɔs dis kin mek yu gɛt mɔ prɔblɛm wit yu spɛnal. Yu fɔ tek tɛm mɔ bɔt dis if yu gɛt `(Odontoid hypoplasia)`.
• Ɛksesaiz we go mek yu jɔyn dɛn fayn: Pe atɛnshɔn pan ɛksesaiz dɛn we nɔ go mek yu bon ɛn jɔyn dɛn nɔ strɛs. Tin dɛn lɛk fɔ waka ɛn swim kin fayn. Dɛn tin ya kin mek yu jɔyn dɛn strɔng ɛn mek yu nɔ fil pen.

We yu tek kia ɔf dɛn tin ya, dat kin mek layf izi pasmak.

Aw yu go ɛp pikin we gɛt `(Pseudoachondroplasia)` fɔ bia wit dis sik fayn fayn wan?

Sɔm pikin dɛn kin shem ɛn shem bikɔs di chenj dɛn we pɔsin kin si, lɛk we dɛn shɔt. Dis kin afɛkt dɛn soshal rilayshɔn bak. Na sɔm tin dɛn we yu kin du fɔ ɛp yu pikin fɔ bia wit dis sik:

• Si pɔsin we de gi advays bɔt mɛntɛl hεlth : Tink bɔt fɔ go to pɔsin we de gi advays bɔt mɛntɛl hεlth fɔ ɛp yu pikin fɔ ɔndastand ɛn kɔntrol aw i de fil.
• Tɔk wit yu pikin opin wan: Tɔk wit yu pikin opin wan bɔt di tin we de apin insay simpul langwej we i go ɔndastand. Ansa dɛn kwɛstyɔn dɛn wit peshɛnt. Se tin lɛk, "Yu difrɛn smɔl frɔm ɔda pipul dɛn, bɔt yu rili valyu."
• Tɛl pipul dɛn we di pikin kin de nia bɔku tɛm: I fayn fɔ tɛl pipul dɛn we di pikin kin de nia bɔku tɛm, lɛk di skul ticha dɛn, padi dɛn, ɛn fambul dɛn, bɔt dis tin we de apin. Dɔn dɛnsɛf kin ɔndastand ɛn ɛp.
• Join sɔpɔt grup: If sɔpɔt grup ɔ nashɔnal advokesi ɔganayzeshɔn de usay yu kin mit ɔda famili dɛn we gɛt di sem kayn tin, fɔ jɔyn dɛn kin bi big tin fɔ mek yu gɛt trɛnk. Bɔku tin dɛn de we wi kin lan frɔm di tin dɛn we kin apin to ɔda pipul dɛn.
• Sɔpɔt na skul: Gɛt wan plan fɔ wok togɛda frɔm di ticha dɛn so dat di pikin go lan fayn ɛn wok togɛda wit ɔda pipul dɛn na skul we nɔ go ɛni buli. Sɔntɛm yu kin arenj tin dɛn lɛk di klasrum chia ɛn di dɛsk fɔ mek i izi fɔ di pikin.
• Praktis fɔ ansa kwɛstyɔn dɛn: Tɔk to yu pikin bɔt aw fɔ ansa kwɛstyɔn dɛn we pɔsin aks am. Fɔ ɛgzampul, yu kin praktis fɔ tɔk sɔntin we simpul ɛn shɔt, lɛk, "Dɛn bɔn mi wit wan kɔndishɔn we mi bon dɛn nɔ de gro."

Mɛmba se di lɔv, sɔpɔt, ɛn ɔndastandin we yu gɛt na di big trɛnk we yu pikin go gɛt fɔ liv gladi at wit dis sik.Tɛl di tin dɛn we dɛn ebul fɔ du ɛn ɛnkɔrej dɛn.

So, wetin na di impɔtant tin dɛn we wi fɔ kɛr go na os frɔm dis stori? (Mɛsej we dɛn kin tek go na os)

Okay, wi don tok plenti boht `(Pseudoachondroplasia)` naw, no so? Na sɔm simpul tin dɛn we yu fɔ mɛmba:

• Pseudoachondroplasia na wan jεnεtik kכndyushכn we de afekt di bon dεm we de gro, we de mek i sכt.
• Dis nɔ de afɛkt di sɛns ɔ di layf we pɔsin de liv.
• yu kin si di sayn dεm lεk di limb dεm we sכt, di joyn dεm we de pen, εn we di spayna kכba.
• Dɛn kin kɔnfɔm dis tru mɛdikal tɛst, ɛkstrem rayt, ɛn jɛnɛtik tɛst.
• Tritmɛnt dɛn de we dɛn kin gɛt. Dɛn kin ebul fɔ kɔntrol di prɔblɛm dɛn wit tin dɛn lɛk mɛrɛsin fɔ mɛn pen, tritmɛnt fɔ yu bɔdi, ɛn if nid de, ɔpreshɔn.
• Pan ɔl we dɛn nɔ go ebul fɔ avɔyd dis sik, if yu no am kwik kwik wan ɛn i go ebul fɔ mɛn yu fayn fayn wan, dat go ɛp yu fɔ liv fayn layf, ɛn fɔ du tin.
• If pikin gɛt dis sik, di tin we impɔtant pas ɔl na fɔ gi am lɔv, sɔpɔt, ɛn ɔndastandin. Gi dɛn di trɛnk we dɛn nid fɔ wok fayn fayn wan na sosayti.

If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, nɔ shek fɔ tɔk to yu famili dɔktɔ ɔ pɔsin we sabi bɔt bon. Dɛn go ebul fɔ ɛp yu mɔ.

` Pseudoachondroplasia, sכt ayt, dwarfism, bon growth, jεnεtik sik dεm, COMP jin, jכyn pen