Yu pikin in yaylid gɛt dis kayn chenj? Lɛ wi lan bɔt (Blepharophimosis Syndrome)!

Sɔntɛnde yu go dɔn notis se di aylid dɛn fɔ smɔl pikin dɛn kin de na wan strenj we. Sɔntɛm di say we di yay opin smɔl, ɔ i tan lɛk se di yay dɛn de drɔp. We yu si sɔntin lɛk dis, dat kin mek yu fred smɔl as mama. Na dɛn kayn tɛm ya, i rili impɔtant fɔ no bɔt dis sik we wi go tɔk bɔt, dat na, Blepharophimosis Syndrome.

Wetin na di Blepharophimosis Syndrome? Fɔ tɔk am simpul wan...

Dis na jεnεtik kכndyushכn we de afekt di we aw yu yaylid dεm de fכm. Tink bɔt am, wi yaylid na di impɔtant pat we de protɛkt di yay. So, di opin we pɔsin we gɛt dis sik in yay de opin, dat na di gap bitwin di yay, kin smɔl pas di nɔmal pɔsin. Dɔn bak, di aylid we de ɔp kin tan lɛk aylid we dɔn drɔp . כda tin na dat, na di insay pat na di yay, dat na di nos sayd, yu kin si wan sכm sכm fold fכ di skin frכm di lכw aylid to di כp aylid.

di rizin fכ dis na di chenj na di jin we dεn kכl `FOXL2`, כ as dכkta dεn kכl am , wan mכtεshכn . כda imכtant tin na dat di ovaria dεm fכ uman dεm we gεt dis `Blepharophimosis Syndrome` kin afekt bak.

כda lכng nem de we dכkta dεn kin yuz fכ dis, we na `Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome`. Dɛn kin kɔl am bak `BPES` fɔ shɔt. Sɔm kin kɔl am bak ``smɔl ay opin sindrom.`` Dis na wan sik we dɛn bɔn wit , we min se di pikin kin si dɛn simptom ya we dɛn bɔn am.

di wכd "blepharophimosis" dεn kin pronכns am "bleph-a-ro-phi-mo-sis." I tan lɛk se i kɔmplikt smɔl, nɔto so? Bot dat na okay, mek wi jos se `BPES` fo di sake of simplicity.

Yu tink se kayn tin dɛn de we kin apin to dis? (Tayp dɛn fɔ BPES)

Yes, tu men kayn dεm de fכ dεn `BPES`. Dɛn na Tayp I ɛn Tayp II .

Sɔm kɔmɔn kwaliti dɛn de we dɛn tu kayn ya gɛt:

• di ay opin dεm we sכm sכm pas nכmal (blepharophimosis) .
• Di aylid dɛn we de drɔp (ptosis) .
• di yay dεm we de fכm apat pas aw i nכmal (telecanthus) .
• wan fold fכ di skin we de fold כp na di insay say na di lכw aylid, dat na, tכwεd di nos (epicanthus inversus) .

Naw lɛ wi si wetin na di patikyula difrɛns bitwin dɛn tu kayn tin ya.

BPES Tayp I we dɛn kɔl

If yu gɛt BPES tayp I, i kin mek yu gɛt wan sik we dɛn kɔl Primary Ovarian Insufficiency (POI) . sכm pipul dεn kin kכl dis bak "premature ovarian failure." Fɔ tɔk am simpul wan, na we uman in ovaria dɛn stɔp fɔ wok bifo di tɛm we dɛn bin de op fɔ.

BPES Tayp II (BPES Tayp II) .

Bɔt if yu gɛt BPES tayp II, i nɔ de kɔz ɛni ɔda sistɛm prɔblɛm na yu bɔdi, we min ɔda big prɔblɛm dɛn we de afɛkt di wan ol bɔdi. Di wangren sayn dɛm wae dɛn kin si mɔr na di wan dɛm wae gɛt fɔ du wit di yay.

Aw kɔmɔn tin na blepharophimosis syndrome?

כlsay na di wכl, dεn kin si dis `Blepharophimosis Syndrome` pan wan rεt we na lεk 1 pan 50,000 pikin dεm we dεn bכn . Dis min se na sɔm kayn tin we nɔ kin apin so ɔltɛm.

Wetin na di sayn ɛn simptom dɛm fɔ blepharophimosis syndrome?

Di sayn dɛm fɔ dis `Blepharophimosis Syndrome` kin mɔs afɛkt di we aw yu yay de luk. Mɛmba di 4 men sayn dɛm wae wi bin dɔn tɔk bɔt:

• Smɔl smɔl ay opin dɛn.
• Di aylid dɛn we de drɔp ( Ptosis ).
• Ay dɛn we dɛn dɔn sɛt bɔku bɔku wan (Telecanthus).
• wan fold fכ di skin we de fol כp pan di insay lכw aylid dεm (Inna lכw aylid dεm we de fold כp - Epicanthus Inversus).

Jɔs tink bɔt, dɛn sayn ya kin chenj di we aw di pikin in fes tan smɔl. Na nɔmal tin fɔ mek mama ɛn papa dɛn de wɔri we dɛn si dis. Bɔt nɔ wɔri, tin dɛn de we pɔsin kin du bɔt dis.

Apat frɔm dɛn men tin ya, yu kin si sɔm ɔda tin dɛn:

• Ektropiɔn (we di aybɔl de tɔn na do).
• Strabismus, we dεn kכl bak "kros yay ", na wan kכndyushכn we di yay dεm de kכros.
• Amblyopia , we kin kam bikɔs di aylid kin drɔp we kin mek pɔsin nɔ ebul fɔ si. Fɔ tɔk di kɔrɛkt tin, di aylid de mek pɔsin nɔ ebul fɔ si.
• di yes dεm we kכnstrikt , we dεn kכl bak "kכp yes" כ "lכp yes," min se di ed dεm fכ di yes dεm kin wrinkled כ fold dכn.
• Yes dɛn we nɔ gɛt bɛtɛ sɛt.
• Wan brayt brij we de na di nos.
• di gap bitwin di nos εn di כp lip sכm pas aw i nכmal.
• Pipul dεm we gεt tayp I gεt praymar ovarian insufisεns (POI).

Wetin mek dis kin apin? Wetin na di tin dɛn we kin mek i apin? (Wetin kin mek pɔsin gɛt blepharophimosis syndrome?)

di men tin we de mek dis `Blepharophimosis Syndrome` na di vεryushכ n כ mכtεshכn na wan jin we dεn kכl `FOXL2`. dis de transmit tru jin dεm insay wan כtosom dכ minant we.

Fɔ tɔk am simpul wan, dis min se ivin if na wan mama ɔ papa nɔmɔ gɛt dis chenj (mutated) jin, di pikin kin gɛt am.Bɔt sɔm pipul dɛn kin gɛt dis sik fɔ di fɔs tɛm, ilɛksɛf dɛn nɔ bin gɛt dis sik frɔm dɛn mama ɛn papa. pan dis kayn kes, dכkta dεm se na "fresh" כ nyu jεnεtik mכtεshכn, we min se i nכ bin gεt am frכm mama εn papa we di sik afɛkt.

Ɔda prɔblɛm dɛn we kin apin bikɔs ɔf dis (Wetin na di prɔblɛm dɛn we kin apin we pɔsin gɛt blepharophimosis syndrome?)

Blepharophimosis kin afɛkt yu yay . Yu de pan risk fɔ gɛt refractive errors , we kin mek yu nɔ ebul fɔ si fayn we yu de fa ɔ nia.

Na mɔ, bebi ɛn yɔŋ pikin dɛn we gɛt siriɔs ptosis (wan tin we dɛn kɔl les yay) kin gɛt wan sik we dɛn kɔl amblyopia . Dis na bikɔs di aylid dɛn kin blok dɛn fɔ si, ɛn dis kin mek di bren nɔ ebul fɔ gɛt di signal dɛn frɔm da yay de. If dɛn nɔ trit dis kwik, di we aw pɔsin de si na da yay de nɔ kin ebul fɔ si sote go.

Aw dɛn kin no dis? (Aw dɛn kin no se pɔsin gɛt blepharophimosis syndrome?)

Yu dɔktɔ kin sɔprayz se yu gɛt Blepharophimosis Syndrome afta i dɔn si di 4 men klinik sayn dɛm we wi bin dɔn tɔk bɔt ɛn du ay ɛgzam. Wan spɛshal pɔsin we de kia fɔ di yay kin du sɔm ɔ ɔl dɛn tɛst ya:

• Visual acuity test: Dis min se yu fɔ aks yu fɔ rid lɛta dɛn we de na chɔt. Dis tɛst kin ɛp yu dɔktɔ fɔ no if yu gɛt mistek dɛn we de mek yu nɔ ebul fɔ si, lɛk fɔ si nia ɔ fɔ si fa.
• Test fɔ les yay (Amblyopia) ɛn strabismus .
• di bכdi tεst fכ di rεprכdaktiv כmon lεvεl (especially if dεn sכspεkt tayp I).
• jεnεtik tεst dεm : dis kin kכnfכm if mכtεshכn de insay di `FOXL2` jin.

Wetin na di tritmɛnt dɛn? (Aw dɛn kin trit blepharophimosis syndrome?)

Dɛn kin trit Blepharophimosis Syndrome wit ɔpreshɔn we dɛn smɔl . bitwin di ej we dɛn ol 3 ɛn 5 ia, dɛn kin du ɔpreshɔn fɔ kɔrɛkt di kɔndishɔn dɛn we dɛn kɔl epicanthus inversus (we de fol di insay aylid skin) ɛn telecanthus (ay dɛn we de fa frɔm dɛnsɛf). Dɔn, afta lɛk wan ia so, wan dɔktɔ we de du ɔpreshɔn kin du ɔda ɔpreshɔn fɔ kɔrɛkt di aylid we dɔn drɔp (ptosis). Sɔntɛnde, dɛn kin du ɔl dɛn ɔpreshɔn ya di sem tɛm, bɔt dis nɔ kin apin so ɔltɛm.

Dɛn nɔ kin jɔs du dɛn ɔpreshɔn ya fɔ mek di yay luk fayn, bɔt fɔ ɛp di pikin in yay fɔ si fayn fayn wan. Bikɔs if dɛn lɔk di aylid dɛn, yu nɔ go ebul fɔ si fayn fayn wan.

If yu gɛt BPES tayp I, we min Praymari Ovarian Insufficiency, yu dɔktɔ kin tɛl yu fɔ tek ɔmon riplesmɛnt tritmɛnt , mɔ fɔ tek ɛstrojen. Bɔt i impɔtant fɔ mɛmba se dɛn tritmɛnt ya nɔ de sɔlv di pikin we nɔ ebul fɔ bɔn pikin . Yu fɔ tɔk bɔt dis wit pɔsin we sabi bɔt aw fɔ bɔn pikin.

Yu tink se we de fɔ mek dis nɔ apin? (Aw a go stɔp mi risk fɔ gɛt blepharophimosis syndrome?)

Nɔr patikyula we nɔr de fɔ mek yu nɔr gɛt Blepharophimosis Syndrome, bikɔs na wan jɛnɛtik kɔndishɔn. Bɔt if pɔsin na yu famili gɛt dis sik, i go fayn fɔ mek yu tink bɔt aw fɔ advays yu jɛnɛtiks bifo yu bɔn pikin. Dis we ya, yu kin lan mɔ bɔt am ɛn tɔk bɔt di prɔblɛm we yu pikin kin gɛt fɔ gɛt am.

Wetin a kin ɛkspɛkt if a gɛt blepharophimosis syndrome?

If yu gɛt Blepharophimosis Syndrome, yu go nid fɔ de chɛk yu yay ɔltɛm . Dis kin ɛp fɔ chɛk if yu yay fayn ɛn if ɛni ɔda prɔblɛm de.

If yu gɛt tayp I, yu fɔ tɔk to ɛndokrinɔlɔjis ɔ riprodaktiv wɛlbɔdi spɛshal pɔsin bɔt ɔmon ɛn fεtiliti prɔblɛm.

Dɛn kin trit Blepharophimosis Syndrome, bɔt dɛn nɔ kin ebul fɔ mɛn am. Dat min se, pan ɔl we ɔpreshɔn kin mek di yay dɛn luk ɛn wok bak to sɔm mak, i nɔ kin chenj di ɔndalayn jenɛtik kɔz.

Us kwɛstyɔn dɛn a fɔ aks mi wɛlbɔdi biznɛs pɔsin?

I fayn fɔ aks yu dɔktɔ kwɛstyɔn dɛn lɛk dɛn wan ya:

• Aw ɔltɛm a fɔ mek dɛn chɛk mi yay?
• Yu kin se yu fɔ advays yu bɔt yu jɛnɛtiks?
• Us advays dɛn yu go gi fɔ dil wit prɔblɛm dɛn we gɛt fɔ du wit pikin dɛn?
• Ɔnda us sikɔstɛms yu go nid fɔ go na di imejensi rum bikɔs ɔf dis kɔndishɔn?

Wetin na di difrɛns bitwin Blepharophimosis intellectual disability syndrome ɛn dis?

Dis wan tu konfuz likl, so i gud fo klarify. Pipul dεm wae gεt kכndyushכn wae dεn kכl `Blepharophimosis intellectual disability syndromes` kin si bak dεn yaylid dεm we de dכp εn sכm sכm pas nכmal yay opin. כltu, dεn nכ de si `telecanthus` (ay dεm we dεn set fa apat) כ `epicanthus inversus` (insay skin fold dεm).

Di tin wae impɔtant pas ɔl na dat pipul dɛm wae gɛt `Blepharophimosis intellectual disability syndromes` kin gɛt slow mental divɛlɔpmɛnt.Ɛgzampul fɔ dis na tin dɛm wae dɛn kɔl `Ohdo syndrome` ɛn `Say-Barber-Biesecker-Young-Simpson syndrome.` Sayɛnsman dɛm se nɔr pas 1,000 pipul dɛm na Amɛrika wae gɛt dis intellectual disability syndrome.

Bɔt di wan dɛn we gɛt `Blepharophimosis Syndrome (BPES)` we wi de tɔk bɔt nɔ gɛt intɛlektual disabiliti. Dis na di men difrɛns.

Blepharophimosis Syndrome, ɔ BPES, na wan sik we nɔ kin apin so ɔltɛm we dɛn bɔn am. Yu ɛn yu mɛdikal tim kin ebul fɔ mɛn dis sik fayn fayn wan. Bɔku tɛm, ɔpreshɔn fɔ kɔrɛkt di prɔblɛm dɛn we de na di aylid na pat pan di tritmɛnt plan.

Mɛsej we dɛn kin kɛr go na os

Okay, so, frɔm wetin wi dɔn tɔk bɔt, a op se yu dɔn gɛt gud aidia bɔt `Blepharophimosis Syndrome`. Mɛmba:

• Dis na jεnεtik kכndishכn , mεntal wan de afekt di aylid dεm.
• Di men sayn dɛm na smɔl smɔl yay we de opin, aylid we de drɔp, yay we de fa fawe, ɛn we di skin fold insay.
• Tu kayn dɛn de (`Tayp I` ɛn `Tayp II`) . insay `Type I`, di ovaria dεm kin afekt bak.
• Dis nɔ de mek pɔsin gɛt prɔblɛm wit in maynd.
• Ɔpreshɔn kin mek di yay dɛn luk fayn ɛn i kin mek di yay wok fayn.
• I impɔtant fɔ chɛk yu yay ɔltɛm ɛn if nid de, fɔ trit yu ɔmon.

Na nɔmal tin fɔ mek yu fred ɛn wɔri we yu kam fɔ no se yu pikin gɛt dis sik. Bɔt mɛmba se nɔto yu wangren de. Wit di ɛp we dɔktɔ dɛn ɛn di rayt tritmɛnt, bɔku pipul dɛn dɔn ebul fɔ kɔntrol dis sik ɛn liv nɔmal layf. So, kɔntinyu fɔ strɔng ɛn go to di dɔktɔ advays we yu nid.

` Blepharophimosis, BPES, Aylid, Jɛnɛtik Sik, Ptosis, Epicanthus Inversus, Ay Hɛlth