I naupang tê chu a damlo reng em? SCID (Severe Combined Immunodeficiency) a ni thei! Kan sawi dawn nia!

I naupang tê chu a damlo reng em? Natna pakhat chu a dang hmain a dam leh em? A châng chuan hei hi thil pangngai a ni a, mahse thil awm lo tak, mahse natna khirh tak vang pawh a ni thei. Chu chu SCID (Severe Combined Immunodeficiency) tih chu a ni. Vawiin hian he thu hi chipchiar deuhin sawi ila, kan sawi dawn em ni? Lungngai suh, hei hi fimkhur a pawimawh hle.

SCID (Severe Combined Immunodeficiency) hi eng nge ni? A awlsam zawngin i hrethiam ang u.

A awlsam zawngin sawi ila, SCID hi a awm lo hle a, a awm lo hle a, mi tlemte chauhin a nghawng a ni. Kan taksa immune system , natna dotu chu a tichhe thin. Thil pawi tak a ni thei.

Hei hi ‘primary immune deficiency’ kan ti a ni. Lehkhabu thenkhatah chuan ‘inborn error of immunity’ an ti bawk. Chu chu, pian ni ata awm reng, thlah kal zelah a lo kal zel theih thil a ni tihna a ni. Genetic change hrang hrang hian he SCID condition hi a thlen thei a ni.

Ngaihtuah teh, America ang ramah pawh kum tin naupang 58,000 vel an piang a nih chuan pakhat vel chauhvin he natna hi SCID (Severe Combined Immunodeficiency) an tih hi an nei ang. Chu chu a tlem zia chu i ngaihtuah thei ang.

SCID vei naute chhungah eng nge thleng?

Hei hi hrethiam tur chuan kan taksa immune system, natna dotu sipaite hnathawh dan hi kan thlir hmasa a ngai a ni.

Nausen chu a nu pum chhunga a awm laiin, a taksaah natna dotu cell sipai rual a lo piang ṭan ta tih han ngaihtuah teh. He sipai hmunpui hi ruhro (bone marrow) a ni . Chutah chuan cell bik a awm a, chu chu ' stem cells ' kan ti a ni. Heng stem cells te hian thisen cell chi thum lian ber berte hi an siam thei vek a:

• Thisen sen (red blood cells): Hengte hi taksa pum puia oxygen phurtu an ni.
• White blood cells : Hengte hi kan taksaa sipai, natna laka min vengtu an ni.
• Platelets : Hengte hian thisen zam a pui thin.

Tunah chuan heng thisen var zingah hian pawl bik pakhat ‘lymphocytes’ tih a awm ta a ni. Hengte hi natna direct-a dotu an ni. Heng lymphocyte te hi chi hnih a awm a, chungte chu T-cells leh B-cells te an ni. Heng cell pahnihte hi natna dona kawngah an pawimawh hle a ni.

• T-cells te hian natna thlentu ‘invader’ – bacteria leh virus ang chi thil – taksaa lut a, an bei a, an tichhe vek a ni.
• B-cells te hian ‘antibodies’ an siam thin . Heng antibody te hi hriatrengna ang mai an ni. Vawikhat i damloh chuan i hre reng a, a lo let leh a nih chuan do let turin i inpeih reng a ni.

SCID (Severe Combined Immunodeficiency) tih hminga ‘Combined’ tih hian he natna hian T-cell leh B-cell a nghawng vek tihna a ni. Chuvang chuan ‘combined’ deficiency an ti a ni.

Naupang SCID vei chuan heng lymphocytes hi a nei tlem hle a, a nih loh leh an cell neihte hian hna a thawk tha lo hle. Chuvângin, immune system-in hna a thawh ṭhat loh avângin, hrik—virus, bacteria, leh fungi-te do chu a harsa hle a, a châng chuan thil theih loh a ni.

Eng thilin nge SCID hi a thlen?

SCID (Severe Combined Immunodeficiency) chi hrang hrang a awm bawk.

A chi tlangpui ber chu X chromosome a gene pakhat a buai vang a ni . Hei hian mipa naupang chauh a nghawng tlangpui. Hmeichhia hian X chromosome pahnih an neih avangin pakhatin harsatna nei mahse, an taksa hriselna (immune system) chu X chromosome hrisel dang vangin a la thawk thei tho a ni. Mahse mipa naupang chuan X chromosome pakhat chauh an nei. Chuvangin chu gene chu a chak lo a nih chuan natna chu a lo awm ang. Hmeichhia chu natna ‘carrier’ chauh an ni thei. Chumi awmzia chu natna an nei lo a nih pawhin an fate hian gene an pass thei tihna a ni.

SCID chi dang a awm bawk a, chu chu lymphocytes lo pian chhuahna atana mamawh enzyme tlakchham vang a ni. Hei bakah hian SCID hi genetic cause dang hrang hrang vang pawh a ni thei.

SCID natna lan chhuah dante chu engte nge ni? Engtin nge a hriat chhuah?

SCID vei naute chu an pian tirh lamah hrisel angin lang mah se , hun kal zelah harsatna a lo awm tan thei a ni. Fimkhur tur chhinchhiahna thenkhat chu hetiang hi a ni:

• Hlawhtling lo, taksa rihna tihpun fo loh .
• Chronic diarrhea a awm thin .
• Thluak lam natna vei tam tak, a châng chuan na tak tak . Hei hian rilru natna leh khuh reng reng tihna a ni.
• Fungal infection a ni a, ka chhung leh kawchhungah var a awm (oral thrush) .Lokal. Hei hi ‘Ullogam’ kan ti bawk.
• Chu bâkah, bacteria, viral, fungal infection dang, enkawl harsa leh na tak thei pawh a awm fo bawk. Entir nan:
• Beng natna (acute otitis media) .
• Sinus infection (sinusitis) a awm chuan a chhuak thei lo.
• Vun a rawn chhuak
• Thluak khawsik, meningitis
• Pneumonia natna (Pneumonia) a ni

Nausen te tak te chu hetiang hian a damlo chhunzawm zel a, natna dang a lo chhuah hmaa natna pakhat a dam leh chuan nu leh pate tan a harsatzia hi han ngaihtuah teh. Chuvangin, heng symptom pakhat emaw a aia tam emaw a awm reng chuan a rang thei ang bera doctor pan ngei ngei tur a ni.

Engtin nge SCID (Severe Combined Immunodeficiency) hi hriat theih?

Vanneihthlak takin thisen test awlsam tak, ‘newborn screening’ tia koh chu tunah chuan naute pian veleh natna thenkhat enfiah nan an ti ta a ni . Entirnan, hemi hmang hian ‘sickle cell disease’ leh ‘cystic fibrosis’ tih hriat theih a ni. Sri Lanka-ah pawh hetiang test hi tih a ni bawk. Thu lawmawm tak chu ram thenkhatah chuan he nau piang thar screening hmang hian SCID (Severe Combined Immunodeficiency) pawh hmuhchhuah theih a ni tawh bawk.

Hetiang hian , natna hi hriat hmasak a nih chuan enkawl tan thuai theih a ni. Tichuan a result pawh a tha zawk hle.

Nausen piang thar screening-ah SCID a awm tih a hriat chuan naute chu immune deficiency lama specialist hnenah hruai a ni tlangpui. Chu doctor chuan thisen test belh leh turin thu a pe ang a, genetic test pawh a ti thei bawk .

Chhungkaw zinga mi pakhatin SCID a neih chuan, emaw, chhungkaw history-a immunodeficiency nei a nih chuan, nu leh pate chuan genetic counseling an la thei ang . Naute a pian veleh thisen test pawh an ti nghal thei bawk . Diagnosis tih hma chuan enkawlna a tan hma thei a, a rah pawh a tha zawk.

A châng chuan, chhûngkaw pakhata SCID thlentu gene mutation hriat a nih chuan, naute chu a pian tirh aṭanga natna nei leh awm loh enfiah theih a ni . Mahse, naute chhungkaw history nei lo emaw, nausen piang thar screening hmanga screening nei lo tan chuan natna hmuhchhuah hma thla 6 vel pawh a tlai thei. Chutih hunah chuan a tlai tawh hle.

SCID enkawlna tur engte nge ni?

SCID hi naupang damdawi lam emergency a ni. Chumi awmzia chu enkawl vat loh chuan heng naute hi an piancham hmasa ber pawh an thlen hmain an thih phah zawk tihna a ni. Chuvangin, rang taka enkawl hi a pawimawh hle.

Enkawlna hman tlanglawn ber chu ‘stem cell transplant’ a ni. Hei‘Bone marrow transplant’ an ti bawk a, hei hian mi hrisel atanga naute damlo hnena stem cell pek a huam a ni. Beiseina chu heng cell tharte hian naute taksa hriselna (immune system) a siam thar leh ngei ang tih hi a ni.

• Stem cell transplant hlawhtling ber chu genetically matched sibling atanga cell te lak a nih chuan tih theih a ni.
• A chang chuan nu leh pa cell te pawh a inmil thei bawk.
• Chhungkaw zingah tumah match an awm loh chuan doctor-te pawhin a inzawm lo donor atanga stem cell an hmang thei bawk.

SCID vei naute thenkhat pawhin an transplant hmain chemotherapy an mamawh thei bawk.

A pawimawh ber chu he stem cell transplant hi naute dam chhung thla hmasa berah tih a ni a, chu chu natna hrik a neih hmain tih a ni. Chutah chuan result a hlawhtling ber a ni.

Gene therapy hian SCID chi hrang hrang clinical trial-ah pawh result duhawm tak a nei a ni. Amaherawhchu khawvel ram tam takah chuan hman a la ni lo. SCID tana gene therapy chungchanga zirchianna chu kalpui mek a ni.

Naupang SCID vei enkawl hian specialist engemaw zat awmna medical team a awm tlangpui. Entir nan:

• Naupang immunologist a ni
• Bone marrow transplant enkawltu doctor a ni
• Naupang hrik kai theihna expert

SCID vei naute hi nunna atana hlauhawm natna kai theihna a sang hle. Chuvangin doctor-te chuan hri kai venna atana pui turin damdawi an pe tan ta a ni. Entirnan, antibiotics, antivirals, antifungals , leh antibody/immunoglobulin injection te hi a ni. Naute ṭhenkhat chu an genetic variation a zirin enzyme infusion pawh an mamawh thei a ni .

SCID chungchanga hriat tur tam zawk

Damdawi leh enkawlna bakah hian hri kai laka invenna tur fimkhur tur dang a awm bawk. SCID vei naupang enkawl hunah hengte hi hre reng ang che:

• Hri kai darh zel tur ven nan midang laka inthiarfihlim a ngai a ni. Chumi awmzia chu pindan hran pek leh a khawih thilte chu a fai em tih enfiah tihna a ni.
• ‘Live vaccine’ engmah pek hi a tha lo. Hei hi a chhan chu SCID vei nausen, virus chak lo pawh nise, vaccine atan pek a hlauhawm thei a ni. Hei hi entirnan:Rotavirus vaccine, chickenpox/varicella vaccine, measles-mumps-rubella (MMR) vaccine, oral polio vaccine, BCG vaccine, leh live flu vaccine te a awm bawk.
• A pawimawh ber chu nausen nen in khata cheng tumahin heng vaccine nung te hi an dawng tur a ni lo, naute hnenah natna a kai theih avangin.
• Thisen pek a ngai a nih chuan a bik taka enkawl thisen a ni tur a ni. Hei hi thisen pek avanga harsatna awm thei laka inven nan tih a ni.
• I hnute hnute chu natna hrik thlen thei virus a awm leh awm loh enfiah a nih hma chuan hun engemaw chen i hnute pek i chawlhsan a ngai mai thei . I doctor thupek chu uluk takin zawm rawh.

Nu leh pa angin engtin nge in tanpui theih?

I naute chu SCID test a nih lai te, leh enkawl lai te hian nu leh pa angin natna kai theihna tur tihziaawmna tur thil tam tak a awm a. Chung zinga ṭhenkhat chu hetiang hi a ni:

• In lama tlawhtu zat tihtlem. Naute hmu tura mi tlem thei ang ber lo kal hi a tha ber.
• I naute chu mipui tamna hmun , shopping mall leh festival-ah te hruai loh tur .
• I naute chu khawsik , khawsik, khuh nei apiang bulah hruai suh. In lama chutiang mi an awm chuan i naute lakah hla takah dah la.
• Naute i khawih hmain naute enkawltu tur zawng zawngte chuan an kut chu uluk takin an sil hmasa phawt tur a ni. Sahbawn leh tui luang hmangin second 20 tal kut sil thin ang che.

Hmalam hun tur ngaihtuah ila.

SCID vei naute chuan damdawi lam thil tam tak a paltlang a ngai thei a, damdawi ina awm fo a ngai thei bawk. Hei hi chhungkaw eng tan pawh thil lungchhiatthlak tak a ni thei. Mahse, nangmah chauh i ni lo tih hre reng ang che.

Medical team chu nang leh i naute enkawl hma, enkawl lai leh enkawl zawh hnua tanpui turin an awm reng a ni. Support group, social worker, chhungte, leh ṭhiante hnen aṭangin ṭanpuina leh fuihna i dawng thei bawk. Sri Lanka ramah hian hetiang natna vei naupangte puitu pawl an awm thei a, chuvangin lo en ve teh.

Online-a thu belhchian dawl zawk leh tanpuina hmuh duh chuan heng ang international website-ah hian i tlawh thei ang (hengte hi English-in a awm):

• Immune Deficiency Foundation tih a ni
• SCID, Nunna atana Vantirhkohte

He thuziak atang hian in lama i hruai theih tur thil pawimawh ber berte

Okay, chuvangin, kan sawi tawh atang chuan hengte hi i hriat reng tur pawimawh ber berte chu an ni:

• SCID (Severe Combined Immunodeficiency) hi genetic disease a awm lo hle a, mahse a nasat em em a, nausen immune system a thawk tha lo a ni.
• Infection na tak tak i neih fo te, i taksa rihna i tihpun loh te, a nih loh leh persistent diarrhea , ang chi symptoms i neih chuan doctor lam pan nghal rawh.
• Nau piang thar screening hian a chang chuan SCID hi a hriat hma thei hle.
• A hmaa hriatchhuah leh enkawl hi a pawimawh hle. Enkawlna ber chu stem cell transplant / bone marrow transplant a ni.
• SCID vei naute chu natna hrik laka venhim a pawimawh hle a, fimkhur bik a ngai bawk.
• Nangmah chauh i ni lo. Doctor, chhungte, leh puihna pawlte hnen atangin tanpuina la rawh.

He thu hi in tan a tangkai ngei ka beisei. I naute chu a dam thuai theih nan duhsakna hlanin!

` SCID, Severe Combined Immunodeficiency, Immunodeficiency, Naupang enkawlna, Genetic Diseases, Bone Marrow Transplant, Nau piang thar Screening