I fa hian hriatna leh mit lama harsatna a nei ve ve em? Usher Syndrome a ni thei ang em?

Nu leh pa kan nih angin kan duhthusam ber chu kan fate hrisel leh hlim taka hmuh hi a ni. Mahse a chang chuan naupangte hian kan beisei phak loh hriselna lama harsatna an nei thei a. I fa tê chuan a pian ni a\angin thawm a chhâng lêt vak lo niin han ngaihtuah teh. A nih loh leh, a lo upa deuh deuh chuan, zan lama êng êng lovah thil hmuh a harsatzia leh kea kal pawh a harsatzia i hrechhuak ta a ni. Hetiang hunah hian hlauhna leh lungkhamna nasa tak neih hi thil pangngai a ni. Vawiin hian kan sawi dawn a, a ruala hriatna leh mit lama harsatna thlentu, mahse kan khawtlang nunah sawi tam vak loh, thil awm lo tak tak kan sawi dawn a ni. Chu chu Usher Syndrome a ni.

Usher Syndrome hi eng nge ni tak tak?

A awlsam zawngin sawi ila, Usher Syndrome hi inherited condition a ni a, naupang hriat leh mit a nghawng ber a ni. A then phei chuan taksa inthlauhna a vawn that theihna a nghawng bawk. Hei hi nausen pum chhunga a la awm laiin hriatna leh mit hmuhna tipungtu gene thenkhata inthlak danglamna (mutations) thenkhat avanga lo awm a ni. Hei hi pianpui natna a ni fo thin a, a nih loh leh naupan lai atanga a lan chhuah tan thin. Mahse, a tlem hle a, nakin lawkah natna lanchhuahna lantir hi an awm lo.

Hei hi thil awm lo tak a ni. Khawvel puma mi 100,000 zinga 3 leh 6 inkar a nghawng a ni. Tunah hian damdawi awm lo mah se, a natna lan chhuah dan enkawl dan tur leh naupang nun tha tak nei tura tanpui dan tur tam tak a awm.

Usher Syndrome chi hrang hrangte chu engte nge ni?

He natna thlentu genetic mutation engemawzat hmuhchhuah a ni tawh bawk. Natna chi hrang hrang hi heng genes te inzawmkhawm dan azirin a inang lo. Mahse heng chi zawng zawng hian hriatna, mit hmuhna leh inthlauhna a nghawng vek a ni. A danglamna ber chu natna lan chhuah tan hun chhung leh a nasat danah a ni. Heng chi pawimawh pathumte hi han thlir ila.

He thu hi hriatthiam awlsam zawk nan he table hi ka siam a ni.

Hetiang dinhmunah hian eng symptoms hmuh tur berte nge ni?

Usher Syndrome chi hrang hrangah hian natna lan chhuah dan inang lo mah se, a lan dan tlangpui engemaw zat a awm.

• Hriatna hloh: Naupang thenkhat chu bengchheng vek an piang. Midangte chuan hriatna hloh (moderate hearing loss) an nei bawk. Naupang thenkhat chu an lo upat deuh deuh chuan an hriatna an hloh zauh zauh thin.
• Vision loss: Hei hi mit retina natna (Retinitis pigmentosa) (RP) avanga lo awm a ni. Hei hi mit chhunga light-sensitive cells (rods leh cones) te chu zawi zawiin an tihchhiat vang a ni.
• A lan chhuahna hmasa ber: Zanah emaw, êng thim takah emaw mit hmuh lohna ( night blindness ). Entîr nân, naupang chuan zan lama êng a hniam laiin in chhûnga kal emaw, infiamna thil hmuh emaw a harsat phah thei a.
• Nakinah: Natna a zual zel chuan peripheral vision a bo thin. Hei hian hmalam i hmu thei tihna a ni a, mahse a sir lam erawh i hmu thei lo. Hei hi ‘tunnel vision’ an ti bawk. Tube sei tak hmanga i en ang maiin a lang. A tâwpah chuan he dinhmun hi mitdelna famkim thlengin a kal thei a ni.
• Balance chungchang: A bik takin Type 1 vei naupangte hian balance neih an harsat hle. Chumi avang chuan naupang dangte aiin an thut a, an ding a, an kal tlai zawk a ni.

Usher Syndrome hi eng thilin nge a thlen?

Hei hi condition a ni a, a genetic vek a ni. Hei hi tlem tal i hrethiam zawk ang u.

Nu leh pa pahnih hian he gene chhia hi an nei ve ve a, mahse symptom an nei lo tih han ngaihtuah teh. ‘Carrier’ kan ti thin. Nu leh pa pahnihin fa an neih huna thil thleng chu hetiang hi a ni:

• Naupangin natna a vei theihna chance 25% (pali zinga pakhat) a awm (nu leh pa pahnihin gene chhia an rochun chuan).
• Naupang pawh hi asymptomatic ‘carrier’ a nih theihna chance 50% (pali zinga pahnih) a awm (nu leh pa pakhatin gene chhia a rochun a, pakhatin gene hrisel a rochun chuan).
• Naupang hian 25% (pali zinga pakhat) a nei a, a hrisel famkim theihna chance a nei a, he natna emaw, gene chhia emaw a nei lo.

Heng genetic changes te hian thluaka sound wave phurtu cochlea chhunga nerve cell te chu a thawk tha lo a, hriatna a tichhe thin. Tin, mit retina-a light-sensitive cell siamtu genes inthlak danglamna hian retinitis pigmentosa a thlen a, chu chuan mit a tichhe thei a ni.

He natna hi engtin nge kan hriat theih ang?

Nausen natna lan chhuah dan leh kum a zirin natna hriat dan a inang lo thei.

A tlangpuiin Sri Lanka-a damdawi in tinah nausen pian tirh atangin hriatna screening an nei thin. Doctor-in naute hian hriatna lama harsatna a neih a rinhlelh chuan test dang nei turin refer a ni ang.

I fain hriatna emaw, mit hmuhna lama harsatna a nei nia i hriat chuan a rang thei ang bera naupang enkawltu doctor i pan tur a ni. Naupang chu a enfiah ang a, a tul chuan specialist hnenah a refer ang.

• Hearing test: Beng, hnar leh kawr specialist (ENT specialist) leh audiologist te chuan naupangin a hriat theih dan leh a hriat theih loh thawm chi hrang hrang an hriat theih nan hearing test hrang hrang an nei thin.
• Vision tests: Mit lam doctor chuan naupang mit a enfiah ang a, retina-a retinitis pigmentosa chhinchhiahna a awm leh awm loh a enfiah ang. Peripheral vision tehna atan test an nei dawn bawk a ni.
• Genetic test hrang hrang: 1.1.I symptoms atanga Usher Syndrome i vei nia i rinhlelh chuan, chiang taka finfiah theih dan tha ber chu genetic testing neih hi a ni. Hei hian natna thlentu genetic mutation bik hriatchhuahna kawngah pawh a pui thei bawk.

Hei hi eng enkawl dan leh enkawl dan nge ni?

Vanduaithlak takin Usher Syndrome hi damdawi a la awm lo. Mahse, a natna lan chhuah dan enkawl dan tur leh naupang nunphung tihsan dan tur tam tak a awm. Naupang hrang hrangah enkawl dan tur ruahmanna a inang lo a, an dinhmun a zirin a inang lo.

• Cochlear implants: Hei hian nausen piang, hriatna lama harsatna nasa tak nei tan chuan a \angkai hle thei a ni. Hei hi electronic device a ni a, surgery hmanga beng chhungah dah a ni. Chu chuan sound wave chu auditory nerve-ah direct-in a kaihruai a, chu chuan naupang chu sound khawvel chu a tawng thei a ni.
• Hearing aids: Hearing aids hi naupang hriatna lama harsatna nei tlem tan chuan hman theih a ni. Hengte hi naupang Type 2 emaw 3 emaw vei tan a pawimawh hle a, an upat deuh deuh chuan hriatna a hloh duh hle.
• Vision aids: Mit lama harsatna awmte enkawlna atana pui thei tur hmanrua hrang hrang a awm. Entirnan, êng filter thei lens bik nei glass, magnifying glass, etc.
• Early intervention services: Hei hi a pawimawh hle a ni . Naupang dam tirh atanga hriatchhuah a nih chuan an mamawh service bikte chu tan thuai theih a ni.
• Thusawi hmanga enkawlna
• Sign language zirtirna
• Braille zirtirna
• Zirna bik hman dan tur
• Taksa inthlauhna tichaktu physiotherapy exercise

Heng zawng zawng hian naupang chu a theihna zawng zawng a tihhmasawn theih nan leh khawtlang nun hlawhtling taka hmachhawn turin chakna nasa tak a pe a ni.

Doctor zawh tur zawhna pawimawh

Hetiang natna hlauhawm tak i hriat hian zawhna tam tak neih hi thil pangngai a ni. Doctor i hmuh hunah heng zawhnate hi zawh theihnghilh suh.

• Ka fa hian eng ang Usher Syndrome nge a neih?
• Eng enkawlna leh enkawl dan nge i rawt?
• Ka fa hian hun kal zelah a mit a hloh vek dawn em ni?
• Eng specialist, therapist, a nih loh leh pawl engte nge awm, he natna vei hi ka fate tanpui thei tur?
• Keini (nu leh pa) pawhin he thil nena inzawm gene kan nei em tih kan test thei ang em?

Nu leh pa i nih angin he zinkawng hi nangmah chauhin i paltlang ang tih i hre mai thei. Mahse, nangmah chauh i ni lo tih hre reng ang che. I fa doctor, therapist, zirtirtu leh nu leh pa dangte pawhin chutiang bawka tawng tawhte hnen atangin tanpuina i dawng thei bawk. Enkawlna dik leh hmangaihna nena enkawl a nih chuan Usher Syndrome vei naupang chu midang ang bawkin nun hlim tak, hlawhtling takin a nung thei a ni.