I fate mit hmuh danah i lungngai em? Norrie Disease chungchang hi i zir dawn teh ang.

Nausen piang thar mit kan en hian hlimna nasa tak kan nei a ni lawm ni? Mahse, a châng chuan, chu mitmengah chuan thil dik lo a awm tih chu rinhlelhna tlem kan nei thei a ni. Vawiin hian ‘Norrie Disease’ an tih, naupang mit hmuhna chauh ni lo, thil dang tam tak a nghawng thei, natna hlauhawm tak kan sawi dawn a ni. He thu i hriat hian hlau suh, awlsam takin i hrethiam ang u.

Norrie Disease hi eng nge ni? A awlsam zawngin...

Norris natna hi mit natna atanga lo chhuak a ni a . Hemiah hian naute mit peng pakhat, retina an tih, leh a kaihhnawih thisen kalna kawngte chu a lo thang tha lo hle. Retina hi kan mit hnung lama layer te tak te, camera-a film ang maia thawk a ni tih i hria em. Hei hian êng leh rawng a hmuchhuak a, thluaka thuchah a thawn a, chu chu kan hmuh hun a ni.

Norris natna vei nauteah chuan mit (retina) hi a lo thang tha lo a, chuvang chuan mit atang hian a inthen thei a ni. Hei hian mit chhungah thisen a chhuah tir thei a ni. Hei hian retina chu fibrous-ah a siam a, hna a thawk tha thei lo. Thil tam takah chuan he natna hian naute chu a pian tirh emaw, a pian tirh thla engemaw zat chhungin emaw a mit a tidel vek thei a ni. Nausen thenkhat chuan an pian laiin êng engemaw zat an hmu thei a, a tam zawk chuan an pian tirh lamah mit pakhat emaw, mit pahnih emaw-ah an hmu thei lo.

A pawimawh ber chu he mit hmuhna tichhe thei genetic mutation hian naupang taksa hmasawnna dangte pawh a nghawng thei a ni. Chuvangin Norrie natna hi mitdelna chauh a ni lo.

Norrie natnaah hian eng symptom dang nge hmuh theih?

Mit hmuh hloh hi a chhinchhiahna ber a ni. Mahse, Norrie natna vei naute pawhin a hnuaia mite hi an tawng thei bawk:

• Hriatna lama harsatna: Norris natna hian beng chhung lam hmasawnna a nghawng thei bawk. Chuvangin, hriatna hloh tlem te hi naupan lai atanga intan a, zawi zawiin a pung thei a ni. Beng ri (tinnitus) pawh i nei thei bawk. Mi thenkhat chuan kum 35 an tlin chuan an hriatna a tlahniam nasa hle mai thei.
• Nungchang inthlak danglamna: Hetiang dinhmun hian naupang nungchang a nghawng thei bawk. Entirnan, Norris syndrome vei mi pali zinga pakhat vel ah Pseudobulbar affect'' (nuih leh tap control harsat) tih natna hi hmuh tur a awm.
• Hmasawnna tlai: Naute leh naupang thenkhat chuan an thanlenna tur thil pawimawh tak tak, ṭhut leh kea kal ang chi an thlen theih nan hun rei zawk an hmang thei.
• Autism spectrum disorder: Norris syndrome vei mi pali zinga pakhat vel chuan autism symptoms an nei thei.
• Seizure disorders: Thil dang angin a awm lo nain, mi sawm zinga pakhat velin seizure disorder an nei thei a ni.
• Peripheral vascular natna: 1.1.Mi thenkhat chuan thisen kal danah harsatna an nei thei a, chu chu venous ulcer te hi a ni.

Pawimawh: Naute zawng zawng hian heng symptom zawng zawng hi an nei vek dawn lo. Chhungkaw khata naupangte pawhin symptom hrang hrang an nei thei. Chuvangin naupang tin hian mimal enkawlna an mamawh a ni.

Norovirus hi engtiang chiahin nge a hluar? Tuin nge dawng?

Norris natna hi a tlem hle a. Mi maktaduai khat zinga pakhat vel a nghawng a ni.

Hei hian mipa naupang a nghawng tam ber. Hmeichhe naupangte hi he natna hian an vei tlem hle. An ti a nih pawhin a natna lan chhuah dan chu a na lo hle. Hnam leh chi hrang hrang tan bik a ni lo.

Norrie natnaah hian doctor hian eng symptoms nge a hmuh?

Mit enfiahnaah hian mit lam doctor chuan Nori natna nena inzawm symptom engemaw zat a hmu thei a ni. Chung zingah chuan:

• Mit hnung lamah chuan yellow-gray mass (Pseudoglioma) a awm. Hei hi retina hmasawn lo vang a ni.
• Retinal atanga chhuak (retinal detachment) a awm.
• Mit mit (cornea) a var (Leukocoria).
• Mit chunga ring dum chu a lian ta hle mai.
• Iris hypoplasia hi iris a lo thanglian loh vang a ni.
• Cataract hi lens emaw cornea emaw-ah a inzawm a ni.
• Mit chu a size pangngai aia te (Microphthalmia) a ni.
• Intraocular pressure a sang chho zel. Hei hian mit a ti na thei a ni.
• Vitreous thisen chhuak.
• Mit lens (cataract) atanga chhum (cataract).
• Mit hmuh lohna (Phthisis bulbi).

Heng symptoms zawng zawng hi vawi khatah a lang vek lo. Ṭhenkhat chu pian tirh lamah hmuh theih a ni a, ṭhenkhat erawh chu thla tam tak hnuah emaw, kum tam tak hnuah emaw pawh a lang thei thung.

Naupangin eng symptoms nge a neih?

Norris natna lan chhuah dan hi natna chi hrang hrang a zirin a danglam thei hle. Mit chhunga pressure sang lutuk vangin nausen thenkhatah mit natna hi a langsar hle a, mahse hei hi a tam vak lo. A châng chuan mit mit (cornea)-a calcium awm (band keratopathy) hian natna leh hrehawmna a thlen thei bawk. I fa mit doctor chuan an mit a pressure awm chu a enfiah fo ang.

Symptom dangte chu hriatna hloh leh a kaihhnawih thil dangte nen a inzawm thei bawk. I fa medical team te nen inbiakna nei la, eng symptom nge i ngaihtuah tur tih chiang takin hre rawh.

Eng thilin nge Norrie natna hi a thlen?

Norris natna hi genetic mutation avanga lo awm a ni . Hei hi tibuaitu gene bik chu NDP gene a ni. He NDP gene hian kan taksa chu Norrin tih protein siam turin a hrilh a. He Norrin protein hi cell signaling leh cell specialization atan a pawimawh hle. A bik takin Norrin hian kan retina chu a lo thanglian tha hle. Tin, retina leh beng hmun thenkhata thisen pe chhuaktu thisen kalna kawng (Angiogenesis) siamnaah a pui bawk.

NDP gene-a mutation a awm chuan Norrin protein hian hna a thawk tha lo. Chutiang genetic mutations chuan mit natna chi hrang hrang a thlen thei a ni. Norrin natna hi a na ber a ni.

Engtin nge Norrie natna hi rochun a nih?

He NDP gene danglam tak hi X chromosome ah a awm a ni. I hriat angin X leh Y hi sex chromosome pahnih an ni. Natna rochun dan hrang hrang a awm a. Norrie natna hi X-linked recessive pattern atanga rochun a ni .

Heng inherited conditions te hian mipa naupang a nghawng tlangpui. Hmeichhia te hi an vei tlem hle. Hei hi mipa naupangte hian X chromosome pakhat chauh an neih vang a ni. Chuvangin, natna thlentu gene danglam pakhat an rochun a ni thei.

Nu pakhat chu he altered gene carrier a nih chuan (a awmzia chu a X chromosome pahnih zinga pakhatah he gene hi a nei tihna a ni a, mahse symptoms a nei lo, a chhan chu X chromosome dang a gene hrisel vangin engkim a thawk tha vek a ni), naupang mipa a hrin apiangin Norrie natna hi a rochun theihna chance 50% a awm a ni. Naupang mipa chuan he natna hi a pa hnen atangin a rochun lo.

Norrie natna hi engtin nge an hriat theih?

Mit lam doctor chuan Norwich natna chu hetiang hian a hmuchhuak a:

• Mit enfiahna kimchang leh taksa enfiahna hmangin .
• I naute chhungkaw damdawi lam chanchin hriatna hmangin .
• Genetic testing order hmangin .

Mit lam doctor-te chuan Nori natna hi natna dang, a lan chhuah dan inang lo tak takte nen an thliar hrang a ngai a, chu chu:

• Retinoblastoma (cancer natna chi khat, mit chhunga lo awm) .
• Retinopathy of prematurity (nausen piang hmaa retina-a thisen petu thisen kalna kawng dik lo a lo thanglian loh) .
• Nausen thisen kalna kawng (persistent fetal vasculature'' tih hi a ni.
• Coats natna

Norrie natna nena inzawm, X-linked vitreoretinopathy natna dang, na lo zawk ((Familial exudative vitreoretinopathies)) pawh a awm bawk.

A châng chuan, naupai laiin Amniocentesis ang chi test hmangin a hriat theih bawk. Hei hi chhungkaw zinga mi pakhatin Norrie natna a vei tawh a nih chuan, emaw, nu chu NDP gene mutation kengtu nia hriat a nih chuan a ni.

Norrie natna enkawlna tur engte nge ni?

Norrie natna vei naute hian anmahni mimal mamawh ang zela enkawlna an mamawh a ni. Enkawlna kawng hrang hrangte chu:

• Surgery: Surgery hi thil chi hrang hrang, mitdel ang chite target-a tih a ni. Chûngte chuan naute mit a tlêm loh nan leh natna a tiziaawm thei a ni. Amaherawhchu, mit hmuhna a awm leh thei lo. A tlem berah chuan naute hi retina inthen (detached retina) neia piang an ni a, êng engemaw zat an hmu thei. Chutiang hunah chuan, operation chuan chu theihna chu vawng reng tûrin a ṭanpui thei a ni.
• Hriatna hmanrua: Chûngte chuan naupang, ṭhalai leh tarte chu ri hriatna ṭha zâwk an hriat theih nân a ṭanpui a ni. Khawvel nena inzawmna nei tur chuan hriatna lama harsatna nei tan chuan an pawimawh hle.
• Cochlear implant: Hei hian thumal leh aw dangte chiang taka hriat theih nan a pui thin.

I naute chu a lo seilian chhoh zel chuan enkawl leh enkawl chhunzawm zel a ngai ang. Hei hian specialist hrang hrang team a mamawh dawn a ni:

• Naupang enkawltu doctor te
• Geneticist te chuan an ti a
• Mit lam doctor te
• Audiologist te an ni
• Thusawi thiamte

I fa pawhin zirna lama puihna service a hlawkpui thei bawk. I fate sikul enkawltute nen inbiakna neih a pawimawh a, eng resources nge awm tih hriat a pawimawh.

Norrie natna vei te hmalam hun eng nge ni?

Norris natna vei tam zawk chu an dam chhung thla 12 chhungin mitdel vek (eng engmah hmu thei lo) an ni. Mi panga zinga pakhat vel chuan kum 3 an tlin hnuah êng engemaw zat an hmu thei a ni.

I fate hmalam hun rei tak chu thil tam takah a innghat a, chung zingah chuan eng natna lanchhuahna nge a nghawng tih leh a nasat dan te pawh a tel. Norwich natnain i fa a nghawng dan leh a rilru a hahdam theih dan tur te chu i fa medical team te hian an hre chiang ber a ni.

Norovirus hi ven theih a ni em?

Norovirus hi ven theih a ni lo. I chhungkuaa mi tu emaw chuan Norovirus emaw mit natna dang pianpui emaw a neih chuan naupai hmain genetic counselling ngaihtuah hmasak phawt a tha. Genetic counselor chuan NDP gene mutation carrier i nih leh nih loh hriat nan genetic test neih a rawt thei a ni. He mutation hian i fa hian mit natna chi hrang hrang a nei thei a, chung zingah chuan Norovirus pawh a tel.

Engtin nge ka fa ka enkawl ang?

I fa medical team chuan in lama i fa enkawl dan tur tha ber an hrilh ang che. Naupang tin mamawh chu an kum leh an natna lan chhuah dan azirin a inang lo. A hnuaia tarlan te hi i fate’n an theihna zawng zawng a thlen theihna tura pui thei tur tips tlangpui thenkhat an ni.

I fa chu doctor appointment-ah hruai ngei ang che.

I fa hian specialist hrang hrang nen appointment tam tak a nei ang. Heng appointment te hi i fain an mimal mamawh ang zela enkawlna a dawn theih nan a pawimawh hle.

• Kum tin mit endikna: I fain mit hmuhna zawng zawng a hloh tawh a nih pawhin kum khatah vawi khat mit doctor pan a pawimawh. Hei hian i fa chu mit natna thlentu harsatna a awm leh awm loh a hriat theih nan a pui ang a, a tul chuan enkawl dan tur a rawt bawk ang.
• Thla 6 atanga thla 12 danah beng enfiah thin: I fa hriat dan enfiah fo chuan a tul hunah enkawl i hmu thei ang. Audiologist chuan symptoms a lan hmain hriatna hloh a hre thei.
• Hmasawnna kawng dang puitu inhmuhna: Naupang chuan speech therapist, social worker, leh psychologist ang chi mite nen an inhmu a ngai mai thei.
• Naupang enkawltu appointment: I fa hriselna zawng zawng enfiah turin naupang enkawltu i hmu fo tur a ni.

Pawimawh: I fa doctor zawng zawngte thawhhona leh thu hriatte insem darh a pawimawh hle.

Naupang nitin nun enkawl danah tanpui rawh

Norwich natna hian naupang nitin nunah harsatna tam tak a thlen thei a ni.

• Mut leh harh hun pangngaiah: Naupang celiac natna vei te hian zan mut hahdam an harsat phah thei. Chu chuan nitin an chau thei a, an thinrim thei a, sikul hnathawhnaah pawh ngaihtuahna an seng nasa thei bawk. I fain mut a harsat chuan i naupang enkawltu doctor nen tanpui theih dan tur sawipui rawh.
• Socialization: I fate hriatna lama harsatna a zual zel chuan naupang dangte nena inkhelh leh khawvel nena inpawh tawn chu a harsa thei hle. Hei hi kum naupan laiah a langsar zual hle. Naupang chu inhlat takin a inhria thei a, lungngaihna chhinchhiahna a lantir thei bawk. I fate chu background noise tlem ber awmna hmun reh takah social activities ruahman la, i pui thei ang.
• Hearing aids enkawlna: Hengte hi enkawlna atana thil pawimawh tak a ni. Mahse, naupangte chuan an hloh thei a, an tichhia thei bawk. Damdawi hmanrua bik enkawl hi naupang tu tan pawh thil awlsam a ni lo. Hriatna hloh hian he harsatna hi a tizual thei a ni. A theih ang angin i fa chu an hriatna hmanrua enkawl turin zirtir la, thil engemaw a thlen chuan hrilh nghal turin hrilh bawk ang che.

Nangmah pawh in enkawl ve bawk ang che.

I fa hian a mamawh che a, chuvangin nangmah i in enkawl a pawimawh. Nu leh pa leh enkawltute hian an rilru a buai a, an chau hle tih hi thil awmze nei tak a ni. Hei hi chinfel awlsam a awm loh laiin, i rilru put hmang pawm hi chinfelna zawng hmasa ber a ni.

• I doctor nen i rilru put hmang chungchang sawipui rawh.
• Support group pakhatah tel ve rawh. Hei hian nangmah ang bawka dinhmun nei nu leh pate nena inzawmna siam turin a pui thei che a ni.
• Ṭanpuina dil rawh. Chhungte, thiante leh thenawmte hnen atangin tanpuina dil hreh suh.

Norwich natna hming dang

Hetiang dinhmun hming dangte chu:

• Anderson-Warburg natna a ni tih hi a ni
• Whitnall-Norman syndrome tih a ni
• Pianpui atanga lo piang chhuak thin oculo-acoustico-cerebral degeneration''.
• Oligophrenia microphthalmos tih a ni
• Pianpui pseudoglioma

A tawp berah chuan eng nge hriat reng tur

Norris natna hi natna khirh tak a ni a, mi zawng zawng hi tlem a inang lo deuh vek a ni. Chu chu i fain a vei tih hriat a nih hunah eng nge i beisei ang tih chiang taka hriat a harsa thei tihna a ni. I fate ṭanpui tûra medical team din khâwmna chuan hmasâwnna kawng khat i zawh theih nân a ṭanpui thei che a ni. I mamawh thu hriat theih nan zawhna zawt la, i ngaihtuahna sawi hreh suh. Nangmah chauh i ni lo.