I fa emaw, nangmah emaw hian sawifiah theih loh khawpa taksa chak lohna i nei em? Pompe Disease chungchang hi han sawi ila.

I fate chu naupang dangte aiin a chau deuh niin a lang a, a kawr chu a ding nghet thei lo va, a thau zawi zawi hle tih i hre tawh mai thei. A nih loh leh, puitling i nih tawh angin, stairs i chhoh emaw, hla vak lo i kal emaw hian a danglam bik takin i chau a, i lu i hah em? Hengte chhan hi i hriat ngai loh dinhmun hmuh tur awm lo tak a ni thei. Chu chu vawiina kan sawi tak tak chu a ni.

A awlsam zawngin Pompe Disease hi eng nge ni?

Kan taksa hi factory lian tak angin han ngaihtuah teh. He factory hian hnathawk tur hian hnathawk hrang hrang (proteins/ enzymes ) a mamawh a. Pompe natna hi kan taksaa sugar chi khat glycogen , tichhetu, chakna siamtu hnathawk pakhat (protein bik) a awm loh emaw, a thawk tha lo emaw a nih chuan a lo awm thin.

Tunah chuan he hnathawk hi a awm tawh lo va, chaknaah a chantir ai chuan, chu sugar chi glycogen an tih chu kan taksa cell chhungah a awm tan ta a, a bik takin taksa ruh, thinlung , leh thin ang chi hmunah te a awm khawm tan ta a ni. Factory-a raw materials piling ang mai a ni. Hetianga glycogen a khawlkhawm hian chu taksa pengte chu a tichhe a, an hnathawh pawh a tichak lo hle.

He natna hi `GAA tlakchhamna` emaw `type II glycogen storage disease ( GSD )` tia hriat a ni bawk.

Eng thilin nge he natna hi a thlen?

Pompe natna hi genetic natna a ni a . Chumi awmzia chu kan nu leh pate hnen atangin kan rochun tihna a ni. Mahse, natna vei tur chuan i nu leh pa hnen atangin natna thlentu gene chhia chu i dawng tur a ni .

Miin gene chhia pakhat chauh a rochun chuan natna lanchhuahna a lantir lovang. Mahse natna phurtu an ni ang. Chumi awmzia chu gene chhia chu an fate hnenah an pe chhuak thei tihna a ni.

He natna lan chhuah dan engte nge ni?

He natna lan chhuah dan te, a lo intan kum leh a nasat dan te hi mi hrang hrangah a inang lo thei hle. Hmun lian pahnih ah then theih a ni.

Engtin nge natna hi dik taka kan hriat theih ang?

Heng symptoms te hi natna dang nen a inang fo avangin diagnosis hi a buaithlak deuh thei. I doctor chuan thil awmdan hriatthiamna atan hetiang zawhnate hi a zawt thei ang:

• I chak lo, tlu fo, a nih loh leh kal, tlan, a nih loh leh stairs chhoh harsa i ti em?
• Thâwk harsa i nei em, a bîk takin zanah emaw, mut laiin emaw?
• Zing i thawh chuan lu na i nei em?
• Nitin hian i chau hle tih i hria em?
• I chhungte zingah hian heng symptoms hi tu emaw chuan an nei tawh em?

Heng zawhnate bakah hian damdawi lam thil dang awm lo turin test thenkhat pawh tih theih a ni bawk. Pompe natna rinhlelh a nih chuan heng test te hi a hmuhchhuah dan finfiah nan tih thin a ni:

• Thisen test: Hei hian protein (enzyme) tlakchhamnain hna a thawh that dan a enfiah thin.
• Muscle Biopsy: Muscle te tak te chu lak a ni a, microscope hmangin an enfiah a, a chhungah glycogen engzat nge a awm tih an enfiah thin.
• Genetic Test hmanga enfiah: 1.1.An natna thlentu genetic defect chu direct-in an zawng a ni.

Enkawlnate chu engte nge ni?

Tunah hian he natna hi damdawi awm lo mah se, a natna lan chhuah dan thunun thei leh dam rei thei tur enkawlna tha tak tak a awm a ni. It is extremely important to start treatment as early as possible , a bik takin naute tan.

Enkawlna ber chu Enzyme Replacement Therapy (ERT) a ni. A awlsam zawngin, hei hian taksaah enzyme (protein) awm lo emaw, tlakchham emaw, injection hmanga pek a huam a ni. He injection hi kan dawn veleh taksain sugar glycogen chu a ti chhe thei ta a ni. Chumi atana hman tur damdawi thenkhat chu:

• `Myozyme` (naute tan a tam zawk) .
• `Lumizyme` tih a ni
• `Nexviazyme` (a tlai lam chi tan) .

Hei bakah hian puitling, ERT enkawlna dawng tha lo tan enkawlna thar pawm a awm bawk. Damdawi pahnih injection anga ei (`Pombiliti`) leh capsule (`Opfolda`) te inzawmkhawm a hmang a ni.

He natna nena kan khawsak huna ngaihtuah tur thilte

Pompe natna nena nun hi a harsa thei a, chuvangin nangmah leh i chhungte tanpui tur i neih a pawimawh hle. Natna vei dangte pawhin an thil tawn an insem theihna tur leh thurawn tangkai tak tak an dawn theihna tur support group-ah pawh i tel thei bawk.

Entirnan, chaw ei harsa a nih chuan thickener te chu chawhmeh ah hian dah belh theih a ni. Mi thenkhat chu an mamawh ei leh in tur an hmuh theih nan feeding tube hmanga ei tur pek an ngai mai thei.

He natna hian taksa peng tam tak a nghawng avangin specialist doctor team te puihna i mamawh a ni.

• Cardiologist a ni
• Neurologist a ni
• Thluak lam Therapist a ni
• Ei leh in lama mithiam

Mi zawng zawng puihnain a natna lan chhuah dan kan enkawl thei a, kan dam thei bawk.