I fa hian '22q11.2 Deletion Syndrome' a nei em? Hemi chungchang hi awlsam takin han sawi ila.

A châng chuan doctor-in i fain natna a neih hming min hrilh hian hlauhna nasa tak, mangang, leh buaina nasa tak kan nei ṭhîn . ‘22q11.2 Deletion Syndrome’ tih hi chutiang hming pakhat a ni. Hlau suh, a hming chu a buaithlak deuhin a ri a nih pawhin. He dinhmun hi thumal awlsam tak hmanga hriatthiam chuan nang leh i fa tan a \angkai hle ang. Hemi chungchang hi awlsam takin, a tir atang khan sawi ila.

A hmasain heng gene leh chromosome te hi eng nge an nih i lo en ang u.

A awlsam zawngin kan taksa hi zirtirna bu lian tak ang a ni. He lehkhabu bung hrang hrangte hi ‘Chromosomes’ kan tih te hi a ni. A tlangpuiin mihring cell pakhatah hian heng chromosome 46 hi a awm a. Heng chromosome tin hian ‘gene’ sang tam tak a nei a, chu chu kan taksa mizia zawng zawng tichiangtu information a ni. Kan san zawng atanga kan vun rawng thlengin kan sam texture thlengin heng genes te hian a hril vek a ni.

‘22q11.2 deletion syndrome’ tih hi thlahtute atanga lo chhuak a ni. Heta thil thleng hi chu chromosome 22 atanga a tlem ber, kan sawi tawh chromosome 46 zingah hian a bo vek a ni. Mizo tawng ‘deletion’ tih hi ‘deletion’ emaw ‘reduction’ emaw tihna a ni. Chutianga chromosome pakhat a bo chuan chu hmuna awm gene te pawh a bo vek a ni. Chuvang chuan taksa peng hrang hrang, thinlung, immune system, leh thluak hnathawh dan a nghawng thei a ni.

Hei hi ‘DiGeorge Syndrome’ nen a inang em?

Ni e, ‘DiGeorge Syndrome’ tih hming hi i hre tawh mai thei. Hei hi a takah chuan 22q11.2 deletion condition lan chhuahna pakhat a ni. Tun hma chuan genetic testing an siam hma hian doctor-te chuan he symptoms group hi hming hrang hrang an hmang thin a, chu chu ‘DiGeorge Syndrome’ tih te hi a ni. Mahse a hnuah chuan genetic testing-ah chuan heng natna tam tak bulpui ber chu chromosome 22 thenkhat hloh vang a ni tih hmuhchhuah a ni a, chuvangin tunah chuan umbrella pakhat, ‘22q11.2 deletion syndrome’ hnuaiah dah vek an ni ta a ni.

Hetiang natna vei naupang zawng zawng hian symptom inang an nei vek dawn lo. Naupang thenkhat chuan symptom tlemte an nei thei a, thenkhat erawh chuan tam tak an nei thei thung. Genes bo zat leh chi hrang hrangah a innghat a ni.

A hnuaia tarlan te hi he natna nena inzawm harsatna tlangpui thenkhat te an ni.

Eng thilin nge hei hi a thlen? Hei hi ka sualna a ni em?

I fa hian he natna hi a nei tih i hriat chuan i rilruah zawhna lo lang hmasa ber pakhat chu, "Engtin nge hetiang hi a lo awm? He thil hi keimah mawhphurtu ka ni em?"

Hetah hian chiang taka hriatthiam tur thil a awm.

A tam zawkah chuan (90% vel) he natna hi random genetic change avanga lo awm a ni. Chu chu rochun a ni lo tihna a ni. Mahse a tlem berah (10% vel) chuan naupang chuan nu leh pa zinga pakhat hnen atangin he natna hi a rochun thei a ni. A châng chuan, chu nu leh pate chuan symptoms an nei lo tak tak emaw, symptoms na lo tak tak an nei emaw a, chu chu an hre lo pawh a ni thei. Chuvangin, a tul chuan i doctor chuan in pahnih hian genetic testing atan a refer thei che u a ni.

Engtin nge enkawl a nih?

Tunah hian hetiang chromosomal disorder chi khat hi ‘damdawi’ pakhat chauh a la awm lo. He inthlak danglamna hi taksa cell tinah a awm avangin siamthat kim theih a ni lo. Mahse, a pawimawh ber chu, hei vang hian harsatna awm zawng zawng deuhthaw hi enkawlna leh enkawl dan a awm a ni.

Heng naupangte enkawlna mamawh hi naupang tin tan a inang lo. Chuvangin i doctor leh specialist team te chuan i fate nena inmil tur treatment plan an siam ang. He ruahmannaah hian:

• Lung natna enkawl dan: A tul chuan thinlung chhiatna siamthat nan zai a ni ang.
• Physiotherapy: Kea kal leh tlan ang chi thil tihna atana taksa ruh tichak leh zirtir.
• Occupational therapy: Kekawr hrui phuar leh ziak ang chi thiamna tha tak tak neih.
• Speech therapy: Thusawi harsatna hneh nan. (Hei hi operation hnua tan a ngai dawn a, chu chu cleft palate a awm chuan siamthat nan a ni).
• Regular checkup: Naupang than dan, a rih zawng, a san zawng leh a hriat dan enfiah fo thin ang che.
• Immune system enkawlna: Immune system a chak loh chuan enkawlna bik (e.g., bone marrow transplant) emaw, natna hrik laka invenna tur thurawn emaw.
• Hormone lama harsatna awmte enkawl dan: Calcium level a hniam chuan calcium leh vitamin D tablet pek tur a ni.
• Mental health support: Naupang leh nangmah pawh tichhe thei rilru lama harsatna awm thei tur counselling.

Chhungkaw naupang dangah pawh hetiang dinhmun hi a awm thei em?

Hei hi nu leh pa tan pawh harsatna lian tak a ni.

• Nu leh pa pahnih hian he gene variation hi an neih loh chuan nakin lawkah naupang dangin he natna hi an neih theihna chance a hniam hle (1% vel).
• Mahse, nu leh pa pakhatin he gene variation hi a neih chuan naupang piang apiangin an rochun theihna chance 50% an nei a ni.

I chhungkuaa mi tu emaw hian he natna hi a nei emaw, rinhlelhna i neih emaw chuan a tha ber chu i doctor pan hi a ni.Hemi chungchang hi i doctor nen sawi dun. Tichuan, a tul chuan nausen ngei pawh hi naupai leh hunah he natna hi test theih a ni. Hemi atan hian `(Chorionic villus sampling)` emaw `(amniocentesis)` ang chi test te hman a ni. Mahse, heng test-te hian naute hian genetic change a nei em tih hriat theih ni mah se, a symptoms chu engtiang chiahin nge a nasat dawn tih chiang takin a sawi thei lo tih hre reng ang che.