Chhungkaw natna hlauhawm tak do mek chanchin: Beiseina zinkawng (Rare Disease) .

Ngaihtuah teh, i naute te chu a nui a, a tlan a, a inkhel bawk. A hmasawnna kawng tinreng chu hlim takin i lo thlir reng a ni. Engkim a tha nia i ngaih lai tak chuan a kal dan a danglam nghal a, a tla fo thin. Chutiang thil hmuh chuan nu leh pa tu pawh a ti hlauhawm ang, a dik em? Hei hi chhungkaw tlemte, chutiang lungchhiatthlak tak tawn tawh chung pawha beiseina bansan ngai lo chungchang a ni. An chanchin hian thil tam tak min zirtir a.

"Will's" Story: Engkim a inthlak Ni

Will hi naupang tê, mi â tak, mi active tak, leh mi rilru na tak a ni. A nu Casey-i sawi dan chuan a hmasawnna kawnga thil pawimawh zawng zawng chu a hun takah a thleng vek a ni. Will-a kum hnih vel a nih chuan a ke a kal a, a khel tha hle a, mahse chhan hriat lohvin a tlu fo tan ta a ni. Ni khat chu a tlu thut mai a.

Chumi ni atang chuan Will-a hriselna chu a chhe zual tan ta a. Test tam tak an neih hnuah a tawpah chuan Doctor-te chuan Will-a hian natna hmuh tur awm lo tak a nei tih an hmuchhuak ta a ni. He natna hi `Leigh syndrome` tih a ni.

A awlsam zawngin kan taksaa cell tin hian chakna pe thei mitochondria an tih power plant tlemte an nei vek a. He natna hmuh tur awm lo tak Leigh syndrome an tihah hian heng energy siamtu center te hian genetic mutation vangin hna an thawk tha lo hle. Will hian chutiang gene pakhat, SURF1 tih chu mutation a nei a. Hetiang dinhmun hi natna pawl lian zawk, mitochondrial diseases an tih zingah a tel a ni.

Casey chuan chu hun chu rilru na takin a hrechhuak a. "Kan nunah hun harsa tak a ni. Ka fa pakhat chu a kal theih loh laiin ka fa dang erawh chuan ke a zir a ni." Chu nu chu engtin nge a awm ngei ang tih han ngaihtuah teh.

Nu leh pa nihna piah lama indona

An fa chunga hetiang thil a thlen hian Casey-a leh a pasal Doug-a te chu thuin an en mai mai lo. He natna chungchanga hriat tur awm zawng zawng chu an zirchiang tan ta a. Casey-a sawi angin, "Hetiang natna hmuh tur awm lo tak i hriat hian i hmaah i nun pum pui a tlakbuak ang maiin a lang... chutah chuan i fa natna chungchanga hriat tur awm zawng zawng i zir vek a ngai a ni. Medical school kal a, course thar tak tak i zir ang mai a ni," a ti.

He natna chungchangah hian thu leh hla tlemte a awm tih an hriat chuan, chutiang natna nei naupang nei chhungkaw dangte nen thawhhona an nei a, "Cure Mito Foundation" an din ta a ni. He foundation hian a tum ber chu Leigh syndrome enkawlna emaw damdawi emaw zawng tura puih a ni.

Hetiang nu leh pate hian harsatna an tawhte leh an chanvo ropui tak hi han en teh.

"Sophia" chuan natna chu chaknaah a chantir ta a

Hemi nen hian nu pakhat Sophia Silber-i chanchin pawh hi a inzawm tlat a ni. `Cure Mito` Foundation board of directors-ah pawh a tel ve bawk. Kum ruk kalta khan a fanu naupang Miriam, a pian atanga kar tlemte hnuah `Leigh syndrome` vangin a boral ta a ni. Chu thihna rang tak, beisei loh taka thihna rapthlak tak chu a nasa hle a, Sophia chuan chu thilthleng chuan an nun chu hmun hnih-ah a ṭhen a, `hma` leh `a hnuah`. "Chutiang hun chhunga thu zawng zawng, minute tin chu kan thinlungah chatuan atan a awm reng a ni," a ti.

Mahse, chutah chuan a tawp lo. A professional knowledge (clinical trial data analysis) hmangin khawvel hmun hrang hranga he natna vei damlote chanchin a khawlkhawm theihna tur patient registry a siam a ni. Hemi atan hian darkar sang tam tak a thawk chhuak tawh a ni.

Engvangin nge hetiang hian damlo registry hi a pawimawh?

Ngaihtuah teh, heng natnate hi a tlem em avangin doctor pakhat mahin hetiang damlo tam tak hi an tawk lovang. Chuvângin, natna lo awm dân, a kal dân leh a lan chhuah dân a inthlâk dân chungchânga thu hriat ṭha ber chu damlote leh an chhûngte chungah a awm a ni. He thu hi hmun khata lakkhawm a nih chuan damdawi thar zawngtu zirchiangtute tan chuan thil hlu tak a lo ni ta a ni. Enkawlna thar kawng a hawng a ni.

Beiseina Legacy a ni

Will-a chanchin hi han kir leh ila. Vawiin hian Will hi kum 11 a ni tawh. Kea kal thei lo, tawng thei lo, kâa ei thei lo mah se, a dinhmun chu a nghet tlat a ni. A pawimawh ber chu a rilru lam thiamna a la tha em em a ni. A nu chuan science lam a ngaihven ber niin a sawi. Tun hnaia video call a neihnaah chuan a nui suk a, hei hi nemnghet turin thumbs up a pe bawk.

Will-a nu leh pate din, Cure Mito Foundation chuan tunah hian gene therapy leh drug repurposing research, damdawi awmsa dang chu natna enkawlna atana hman theih a nih leh nih loh enfiah turin sum a pe mek a ni.

Chumi awmzia chu Will hminga kan tih hian nakin lawkah he natna vei naupang dang nunna a chhanhim thei tihna a ni. Chu chu a hnutchhiah legacy chu a ni. Heng thawnthute hian eng ang dinhmunah pawh harsa mah se, kan inkhawm a, beiseina nen kan thawh chuan danglamna nasa tak kan thlen thei tih min hrilh a ni. Heng nu leh pate hian an fa tana an beih hian naupang dang sang tam tak tan hmalam hun a siam a ni.