Doctor-in i chhungkuaa mi pakhat, a bik takin naupang tê têin Pompe natna a vei tih a hrilh che chuan hlauhna leh mangang taka awm chu thil pangngai a ni. Natna hmuh tur awm lo, genetic disease a nih avangin lungkham hi thil awmdan pangngai a ni. Mahse ka hrilh ang che, lungngai suh. Tunah hian he natna hi damdawi a la awm loh laiin, damlote dam rei zawk leh harsatna tlem zawk nei thei tur enkawlna tha tak tak a awm nual.
Pompe natna enkawlna ber chu ERT (Enzyme Replacement Therapy) a ni.
A awlsam zawngin sawi ila, Pompe natna hi kan taksaa taksa ruh (muscle cell) atana pawimawh enzyme tlakchham vang a ni. He enzyme hi a bo chuan sugar chi khat glycogen an tih chu cell chhungah a awm khawm a, chu chuan taksa ruh a tichhia a ni. Kan taksaah hian hnathawk tlemte an awm ang maiin han ngaihtuah teh, enzyme kan ti thin. Pompe natnaah hian he hnathawk hian hna a thawk tha lo.
Chuvangin, Enzyme Replacement Therapy (ERT) hi taksa pawn lam atanga enzyme bo, a nih loh leh hnathawktu kan pekna a ni. Chumi atan chuan damdawi, synthetic enzyme `alglucosidase alfa` awmna chu vein (IV infusion) hmangin taksaah pek a ni. He enkawlna hi tuna Pompe natna enkawlna phalsak awmchhun a ni.
He ERT enkawlna hian Pompe vei, a bik takin naute dam rei zawng chu nasa takin a tipung a ni. Tun hma chuan he natna vei nausen kum khat aia dam dam hi a tlem hle.
ERT enkawl loh chuan Pompe natna vei naute hian an thinlung ruh chu a ti thim zauh zauh a, an taksa ruh dangte a tichak lo a, an dam kum khatnaah an thi ta a ni. Thâwk lakna atana mamawh ruh (muscle) te pawh an hloh bawk. ERT enkawlna an tan hnuah he dinhmun hi a danglam vek a ni. Naute ERT enkawl hmasa berte chu tunah chuan kum 20 an tling tawh a ni.
Engvangin nge enkawl tan hma hi a pawimawh em em?
Hei hi a pawimawh ber a ni. ERT hmanga enkawlna hian natna a zual zel tur chu a titawp thei a, mahse taksa ruh a tihchhiat tawh chu a tidanglam thei lo. Chumi awmzia chu enkawlna a tlai chuan thawk chakna emaw, kal theihna emaw i hloh thei tihna a ni.
Doctor-te chuan ERT enkawlna hi an dam chhung ni engemaw zat chhungin tan an tum a , a bik takin naute tan chuan, he natna hi an hriatchhuah hnuah. Tlemte a tlai pawhin naute chu a kal theih loh nan a tikhawlo thei a ni.
Pompe natna tlai tak nei tan chuan doctor chuan ERT tan hun tha ber tur a hriat theih nan a natna lan chhuah dan a enfiah fo ang a, a enfiah bawk ang.
Hei hi solo journey a ni lo - mithiam team atanga thlawpna
ERT hmanga enkawl hian nunna chhanhim thei mah se, a tawk lo. Pompe natna vei tan nunphung tha ber pek tur chuan multidisciplinary team of specialist a ngai a ni. Clinical geneticist hi enkawlna enkawltu ber a ni tlangpui.
Hemi atana specialist chi hrang hrang mamawh tur leh an puihna chi hrang hrangte chu a hnuaia table-ah hian en rawh.
| Specialist doctor/therapist a ni | Eng tanpuina nge an dawn? |
|---|---|
| Cardiologist a ni | Thinlung chunga nghawng a neih dan enfiah a, a tul anga enkawl dan tur ruahmanna siam a ni. |
| Pulmonologist a ni | Thâwk lama harsatna awmte an enfiah ang a, a ṭul chuan ventilator an pe bawk ang. |
| Gastroenterologist a ni | Swallowing leh digestive system lama harsatna awmte a tidam. |
| Ei leh in lama mithiam | Hmasawnna tha tak neih theih nan ei leh in mamawh pe la, a tul chuan ei leh in bik emaw, feeding tube hmanga chaw pek emaw a tha. |
| Taksa lam enkawltu (physical Therapist) a ni | Taksa chakna leh chak lohna tihziaawm nan exercise leh treatment te pawh pek a ni. |
| Occupational Therapist hmanga enkawltu a ni | Nitin hna (incheina, ei leh in, etc.) mahni inrintawkna nei tura puih. A tul chuan puitu hmanrua, tiang ang chi hman zirtir an ni. |
| Thusawi thiam (Speech Therapist) a ni | Hmai leh lei ruh chak lohna avanga tawng harsatna awmte hneh turin a pui thin. |
ERT tih loh enkawlna dang
Immune system tichhe thei damdawi
Nausen thenkhat taksa chuan he pawn lam atanga pek enzyme therapy (ERT) hi ‘ram dang’ tiin a hre chiang a, a dotu antibody a siam tan thin. Hei hi `CRIM-negative` condition an ti a. Hetiang a nih chuan ERT enkawlna hian hna a thawk tha lo ang.
Hei hi ven nan doctor-te chuan immune tolerance induction (ITI) treatment an tan a . Hemiah hian ERT enkawlna bakah hian immune system control thei damdawi engemaw zat pek a ni.
- Rituximab a ni
- Methotrexate hmanga siam a ni
- Immunoglobulin (IVIG) hmanga thisen kal tlanga hman thin.
Heng damdawi te hian an tih chu ERT hi taksa ta a ni tih ngaihtuah turin immune system chu "trick" a ni. Tichuan taksa chuan ERT a do dawn lo.
Taksa lam enkawlna leh hnathawhna lama enkawlna
Pompe natna hi taksa chak lohna hi a langsar ber a nih avangin physical therapy hi a pawimawh hle. Taksa tichaktu leh taksa hnathawhna vawng reng turin a pui thei bawk. Occupational therapy hian nitin hnathawh tur mahni inrintawkna nei tura thiamna mamawh tihhmasawn nan a pui thei bawk.
Thusawi leh ei leh in lama enkawlna
Chaw ei leh ei tur atana mamawh taksa ruhte chu a chak lo thei a, speech therapist chuan ei leh in exercise-ah a pui thei a ni. Tin, naute chu a mamawh tur ei tur pek nan feeding tube a ngai fo bawk. Chumi atan chuan nutritionist chuan a tul angin kaihhruaina a pe thei a ni.
I chanvo pawh a pawimawh hle.
Pompe natna nena kan nun hian damlo emaw nu leh pa emaw anga i thawhhlawkzia hi a pawimawh hle.
He natna vei Ryan Colburn chuan, "Ka thil tih pawimawh ber chu Pompe natna chungchang zir hi a ni. Nitin a ka nunpui theihna tura inrintawkna leh thlamuanna nasa tak min pe a ni," tiin he natna vei Ryan Colburn chuan a sawi.
Chuvangin i doctor nen thawk hovin i mamawh hrethiam a, enkawlna tha ber i hmuh theih nan hma i hruai tur a ni. He natna emaw, enkawl dan emaw chungchanga zawhna i neih apiang chu i doctor zawh hreh ngai suh.
Take-Home Thuchah a ni
- Pompe natna hi tihdam kim theih ni lo mah se, tunlaia enkawl dante hian damlote chu dam rei zawk leh damna tha zawka an dam theih nan a pui thei a ni.
- Enkawlna ber chu enzyme replacement therapy (ERT) a ni. Hei hi nunna chhanhim thei damdawi a ni.
- A rang thei ang bera enkawl tan a pawimawh hle a, a chhan chu taksa ruh chhiatna hi tihdanglam theih a ni lo.
- ERT bakah hian specialist hrang hrang, physical therapy, nutrition, leh speech therapy te hnen atanga tanpuina pek a pawimawh hle.
- Damlo emaw nu leh pa emaw i nih angin natna chungchang hriat chian leh doctor nena thawhhona tha tak neiin rah tha ber i hmu thei a ni.
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