Natna rare chungchanga zawhna i nei em? Hemi chungchang hi han sawi ila!

Natna mak tak, hmuh tur awm lo, mi chauh vei chungchang hi i hre ngai em, i chhungte emaw, i thiante emaw hnen atangin i hre ngai em? A chang chuan he natna hi eng nge a nih hriat chian nan hun rei tak a ngai thin. Chuvangin vawiin hian hetiang natna hlauhawm tak tak chungchang hi kan sawi dawn a ni . Hengte hi hriat a pawimawh hle a, a chhan chu he hriatna hi engtikah nge kan mamawh dawn tih i hre ngai lo.

Natna hmuh tur awm lo chu eng nge ni?

A awlsam zawngin sawi ila, natna hmuh tur awm lo (rare disease) chu khawtlang zinga mi tlemte chauh a vei thei natna a ni. Tunah chuan en teh, America ang ramah hian mi sanghnih aia tlem lo natna vei hi natna hmuh tur awm lo anga ngaih a ni. England ramah chuan mi 2,000 zinga pakhat aia tlem lo natna vei a ni. World Health Organization (WHO) chhinchhiah danin, mi 100,000 zinga 65 aia tlem lo natna vei te hi he category-ah hian an tel a ni. Chuvangin i hmu em, hei hi ram hrang hrangah hian a awmzia a inang lo deuh a ni.

Tun thleng hian zirchiangtute chuan hetiang natna rare 7,000 chuang an hmuchhuak tawh a ni! Hêng natna zawng zawng hian khawvêl pumah mi maktaduai 300 chuang a vei a, a tam zâwk chu naupang tê tê an ni tih han ngaihtuah teh. Sri Lanka-ah pawh hetiang natna vei hi an awm a, mahse an sawi tam lo hle.

Nangmah emaw, i hriat mi emaw hian hetiang natna hlauhawm tak hi i nei a nih chuan han ngaihtuah teh. Chu chu engtiang chiahin nge a harsat ang?

• Natna chu eng nge ni tih chiang taka hriat theih nân kum tam tak a ngai thei a ni. A châng chuan Doctor pakhat hnu pakhata kal a, test khat hnu pakhat an neih hnuah pawh natna hi hriat chian theih a ni lo.
• Heng natna lan chhuah dan hi natna tlanglawn dang nen a inang thei a, chuvangin hei hi natna hmuh tur awm lo tak a ni tih a chiang nghal lo.
• Symptoms hian nitin nunah \ha taka hnathawh a ti harsa thei a, hna chelh a, inchhung hna thawh a ti harsa thei bawk. Ṭhenkhat tân chuan ni khata kal chhuah mai mai chu thil harsa tak a ni thei.
• Natna hmuh tur awm lo tam tak chuan enkawlna tha tak an la nei lo.
• Hetiang natna nena khawsak hi chhungkaw tan sum leh pai lama phurrit lian tak a ni thei. Damdawi leh inenkawlna senso phuhruk a har thei hle.
• Damlo leh amah enkawltute pawhin rilru leh taksa hahna nasa tak an nei a.

Mahse science hi nitin a hmasawn zel a ni. Hetiang natna zirchiangtu scientist-te hian a chhan zawng chhuakin damdawi thar siam chhuah an tum reng a ni. Chuvangin lungngai suh.

Nu leh pa nei lo natna leh natna hmuh tur awm lote hi a danglamna a awm em?

Mi tam tak chuan "orphan disease" leh "rare disease" tih hi a inthlak danglamin an hmang thin. Mahse a danglamna tlem a awm. Orphan diseases hi natna, zirchiangtute’n an zirchian vak loh, a nih loh leh engmah (hei hian natna hmuh tur awm lote pawh a huam thei) a ni. Hei hi research man to lutuk vang a ni fo.

Mahse tunah chuan thil awmdan hi a danglam deuh tawh a ni. Khawvel hmun hrang hranga sorkar leh pawl hrang hrangte chuan hetiang "orphan diseases" tihdamna tur hian ``orphan drugs`` zirchianna atan sum an seng tan ta a ni.

Natna hmuh tur awm lo thenkhat chu engte nge ni?

Kan sawi tawh ang khan natna hmuh tur awm lo sang tam tak a awm. Ṭhenkhat chu i hre tawh ngei ang. Midang erawh chu chutiang chuan hriat hlawh an ni lo. Entirna tlemte chu hetiang hi a ni:

• Acromegaly a ni
• Alice in Wonderland natna a ni
• A rilru a buai em em a, a rilru a hah em em bawk a.
• Aplastic thisen tlakchhamna (anemia) a awm
• Cystic fibrosis natna (cystic fibrosis) a awm thin
• Duchenne taksa ruh natna (muscular dystrophy) a ni
• Ehlers-Danlos natna a ni
• Fabry natna a ni
• Gaucher natna a ni
• Huntington natna a ni
• Mesothelioma natna a ni
• Maple syrup zun natna
• Sickle cell natna a ni

Heng hmingte hi a mak deuhin a lang thei a, mahse heng zawng zawng hi mite nghawng thei dinhmun tlemte a ni.

Natna rare lo awm chhante chu engte nge ni?

Natna rare lo awm chhan hrang hrang a awm thei. A chhan hi chi thum a awm a, chungte chu:

1. Genetics: Genetics inthlak danglamna hi natna hmuh tur awm lo tam tak thlentu ber a ni. Heng genetic changes te hi i nu leh pa atanga rochun theih a ni (germline mutation), a nih loh leh chhungkaw member tu pawhin an neih lohvin i taksaah random takin a thleng thei bawk (somatic mutation).

2. Germs/Microbes: Microbes thenkhat avanga natna hrik kai hi a tlem hle thei. Entirnan, TB ang natna hi ram thenkhatah chuan a awm lo hle a, ram thenkhatah erawh chuan a hluar hle thung.

3. Toxins: Chemical thenkhat hian taksaah nghawng tha lo a nei thei a, natna a thlen thei bawk. Entirnan, asbestos kan tawrh hian mesothelioma a thlen thei a, chu chu lung cancer hmuh tur awm lo tak a ni.

Chu bâkah, chhan dang pawh a awm thei bawk:

• Vitamin emaw mineral emaw engemaw zat ei tlem (Nutritional deficiency).
• Accident `(Hliam tuar)`.
• Natna dang enkawl laiin beisei loh taka nghawng a neih.

A châng chuan, heng natna hmuh tur awm lote hi a chhan hmuh theih lohna a awm ṭhin.

Heng natna lanchhuahna te hi eng nge ni?

Natna rare symptoms hi a inang lo hle. Natna hrang hrangah a inang lo. A hmaa kan sawi tawh ang khan a chang chuan heng symptoms te hi natna tlanglawn dang symptoms nen hian a inang hle. Hei hian natna dik tak hriat chian a harsat phah a ni. Mi thenkhat chuan a tir lamah chuan symptom engmah an lantir lo thei.

Taksa na, hah reng reng, a chhan i hriat chian loh chuan doctor pan ngei ngei tur a ni.

Natna hmuh tur awm lote hi engtin nge an hriat chhuah?

Natna hmuh tur awm lo hriatchhuah hi a harsa fo thin. Hei hi chhan hrang hrang a awm a:

• Natna dang ang chi symptoms.
• Natna tam tak hi a tlem em em a, doctor-te pawhin an hmu tam lo hle a, hriat chian a harsa hle.

I taksa chhunga thil thleng dik tak hriat nan kum tam tak a ngai thei. Doctor-te chuan i natna lan chhuah dan an zawt ang che a , test, thisen test leh imaging test te an ti ang a, chu chu a chiang zawkin an hre thei ang. Hetiang kalphung hi a buaithlak thei a, a lungchhiatthlak thei tih doctor-te chuan an hrethiam a ni. An theihtawp chhuahin i natna hriat theih nan an pui ang che, a nih loh leh chutiang lama thiamna nei specialist-te hnenah an refer ang che.

Nausen hian heng natnate hi a vei em tih engtin nge i hriat theih ang?

America ang ramah chuan naute piang thar apiang hian test bik hrang hrang ``Newborn screenings'' tih an nei thin a, heng test te hi natna thenkhat, a hmasa berah hmuh theih loh, mahse naute chhunga awm thei (e.g., sickle cell disease, cystic fibrosis) te hriatchhuah nan an hmang thin. Heng ``Newborn screening'' te hi naute naupang natna hlauhawm tak tak hriatchhuahna atana pawimawh tak a ni. Natna hi hriat hmasak a nih chuan naute tan a rang thei ang bera enkawl tan theih a ni. Heng test thenkhat hi Sri Lanka-ah pawh tih a ni bawk.

Natna hmuh tur awm lote enkawlna tur engte nge ni?

Natna hmuh tur awm lote enkawlna tur chi hrang hrang a awm a:

• Damdawi chi hrang hrang
• Nutritional supplement emaw ei leh in thlak danglam emaw
• Occupational therapy hmanga enkawlna
• Procedure emaw surgery emaw thenkhat
• Taksa lam enkawlna
• Damdawi hmanrua bik hman

Enkawlna tum pawh natna a zirin a inang lo bawk:

• Natna tihdam vek (hei hi tih harsa tak a ni fo).
• Natna a zual zel tur venna.
• Symptoms control dan tur.

Lungchhiatthlak takin, natna hmuh tur awm lo tam tak chuan damdawi an la nei lo a, mahse zirchiangtute chuan mi maktaduai tam tak tanpui thei tur enkawlna zawng turin an thawk chhunzawm zel a ni.

I doctor hnenah experimental treatment thar (clinical trials) chungchang i zawt thei ang . Chûngte chu uluk taka ruahman zirchianna a ni a, zirchiangtute chuan test leh enkawlna ṭhenkhat a thawh ṭhat dân an test a ni. Chûng zînga pakhat i zawm chuan i dinhmun enkawlna thar ber ber, a ṭha ber berte chu i hmu thei mai thei.

Internet-a "treatment" emaw "cure" emaw i hmuh apiang lakah fimkhur rawh. Pakhat i hmuh chuan i doctor hnenah entir rawh. I tan a tha em tih te, a \angkai em tih te, sum khawhralna mai a nih leh nih loh emaw, i tana \ha lo a nih leh nih loh emaw a hrilh thei che a ni. Thil \henkhat chu a \angkai lo thei lo a, \henkhat phei chuan a tichhe thei che a ni.

Natna hlauhawm tak nei mi pakhat tan chuan hmalam hun eng nge awm?

I hmalam hun, a nih loh leh hmalam hun tur chu thil engemaw zatah a innghat a ni:

• I damdawi lam dinhmun bik chu eng nge ni ?
• Engtiang chiahin nge natna hi an hmuhchhuah thuai .
• Eng enkawlna nge awm ?
• Hriselna lama harsatna dang eng nge i neih?

I doctor ten heng thilte hi an hrilh belh thei che a ni. Natna tlêm tê vei tam tak chu hlim takin, dam rei tak an ni. Vanduaithlak takin natna rare thenkhat chuan mi dam chhung a ti tawi thei a ni.

Mi tin hi kan danglam vek tih hre reng ang che. Nangmah dinhmun inang nei midangte nena inbiakna atang hian thil tam tak i zir thei a, mahse nangmah ngei pawhin i zinkawng chu a danglam thei a ni. Entîr nân, mi dang tâna ṭha enkawlnain i tâna a thawh loh chuan beidawng suh. I doctor-te chuan i tana ṭha ber tur zawng turin an thawk dun chhunzawm zel ang che.

Natna rare tak takte hi ven theih a ni em?

Natna hmuh tur awm lo tam tak hi genetic factors avanga lo awm a nih avangin, chutiang venna atana kan tih theih chu a tlem hle. Nangmah emaw, i kawppui emaw hian natna hmuh tur awm lo tak i nei a, fa neih i tum a nih chuan, genetic counseling zawn chu a ṭangkai thei ang . Counsellor chuan i naute hian natna a vei theihna chance a hrilhfiah thei ang.

Engtikah nge doctor i hmuh a ngaih?

Symptom thar i neih emaw, chhan hriat loha i symptoms a inthlak emaw chuan doctor pan rawh. Doctor engemawzat i hmuh tawh a, a chhan an hmuh loh chuan natna hlauhawm tak tak hmuhchhuah, enkawl leh zirchianna lama tui tak medical center-ah referral i dil thei ang.

I doctor zawh tur zawhna pawimawh

Diagnosis i dawn hnua i hriat belh theih nan zawhna thenkhat chu hetiang hi a ni:

• Engtin nge hetiang dinhmun hi ka lo thlen theih?
• Eng enkawlna nge ka dawn theih ang? Engtin nge an tih?
• Ka hmalam hun chungchangah eng nge i sawi theih ang?
• Experimental treatment thar atan clinical trial-a tel ve i rawt ang em?
• Ka chhungte tan pawh genetic test neih hi a tha em?
• Hetiang patient support group te nen hian min connect thei ang em?

Khawi atang nge information leh support ka hmuh theih ang?

Natna hmuh tur awm lo tak nena khawsak hi a chang chuan mahni chauha awm thei tak a ni. I dinhmun hrethiamtu nu leh pa dang hmuh a harsa thei hle a, a bik takin i fain natna a vei tih hmuhchhuah a nih chuan. I chhungte leh i chhungte tanpui theihna tur mi leh resources network i siam theih dan tur chungchang i doctor nen sawiho rawh. Entirnan, online patient support group emaw clinical trial emaw-a tel theihna hun remchang a awm thei.

Sri Lanka-ah pawh damdawi in thenkhatah chuan specialist doctor an nei bawk a, anni hian natna hlauhawm tak tak nei te tanpui thin an ni. Tin, tlawmngai pawl ṭhenkhat chuan chutiang damlote leh an chhûngte chu ṭanpuina an pe bawk. Chuvangin research engemaw tal ti rawh.

Kan hriat reng tur pawimawh ber berte

Natna hmuh tur awm lo tak nena khawsak hi thil awlsam a ni lo, mahse nangmah chauh i ni lo tih hre reng ang che.

• Thu dik tak hmu rawh. I natna chungchang te, a enkawl dan te leh zirchianna thar ber ber te zir rawh.
• Medical team tha tak nen inzawm rawh. I hrethiam leh thlawptu doctor leh healthcare worker zawng rawh.
• Support group hrang hrangah tel ve rawh. Nangmah ang bawka thil tawn tawhte nena inbiakna neih hi chakna nasa tak a ni.
• Beiseina bansan suh. Science a lo thang chho zel a, enkawlna thar a lo thleng mek bawk.

Natna hmuh tur awm lo tam tak chungchang hi kan la hre tlem hle. Mahse zirchiangtute chuan nitin thil thar an hmuchhuak zel a. Chuvângin, he harsatna hi huaisen takin hmachhawn rawh. I tanpui theitu, i thusawi ngaithlatu tur a awm tih theihnghilh suh.

` Rare Diseases, Orphan Diseases, Genetic disorders, Medical diagnosis, Natna rei tak nei, Damlo puihna, Clinical trials