Chondrodysplasia hi eng nge ni? A awlsam zawngin sawi ila.

A chang chuan mi pangngai aia tawi zawk, chu chu tawi zawk kan hmu fo thin a ni lawm ni? Movie-ah pawh a ni thei, nun tak takah pawh. Hei hi a chhan pakhat chu Chondrodysplasia an tih natna a ni thei. He hming i hriat hian hlau suh. Hei hi a takah chuan ruh thanna nena inzawm natna engemaw zat, kan taksa genes inthlak danglamna avanga lo awmte hming tlangpui a ni. Doctor-te chuan naute a pian veleh he natna hi an hmuchhuak nghal mai ṭhin.

Ngaihtuah teh, hei hi natna chi khat chauh a ni lo. Khawthlang lamah chuan he natna vei thenkhat hian tihkhawtlai lian tham awm lovin nun pangngai an hmang thei a ni. Entirnan, 'Game of Thrones' en tawhte chuan Tyrion Lannister mizia hi an hre chiang ang. Chu character changtu actor Peter Dinklage chuan Achondroplasia tih natna a nei a, chu chu Chondrodysplasia type a ni. Nun hlawhtling, famkim takin a nung thin. Mahse, a lehlamah chuan he natna chi hrang hrang na tak leh hrehawm tak tak a awm bawk. Entirna pakhat chu Rhizomelic Chondrodysplasia Punctata (RCDP1) hi a ni. Hetiang dinhmun hian naute te chu an than chak lohna, ruh lama harsatna, rilru lam harsatna , leh mitdelna a thlen thin. Hetiang natna khirh tak nei naupang tam tak hi naupan lai piah lamah an dam thei lo. Mahse beiseina a awm. Researcher te chuan RCDP1 damdawi hi an zawng mek a ni.

Hei hi eng chhan nge ni?

A awlsam zawngin, heng dinhmunte hi genetic . Chumi awmzia chu kan taksa cell chhunga genes inthlak danglamna emaw, chhiatna emaw thenkhat avanga lo awm an ni tihna a ni. A chang chuan heng genetic defects te hi nu leh pa atanga fate hnena rochun theih a ni. RCDP1 tia koh natna khirh tak chu chutiang inherited condition pakhat a ni.

Mahse, a chi tlangpui ber, Achondroplasia ang chi hi chu random mutation avanga lo awm a ni fo. Chumi awmzia chu nu leh pa pahnih zingah pawh he natna hi nei lo mah se naupangin a vei thei tihna a ni.

Hetiang natna lan chhuah dan hi engte nge ni?

Mihring taksa pianzia piah lamah, a natna lan chhuah dan chu Chondrodysplasia an neih chi hrang hrangah a innghat a ni. A lan chhuah dan ber chu a sei zawng (shortness of stature) leh a lu lian ber aiin a lian zawk a ni . Mahse symptom dang a awm thei bawk. Eng nge an nih i han thlir teh ang.

Engtin nge diagnosis hi siam a nih?

Vawi tam tak chu doctor chuan naute chu a pian veleh he natna hi a nei tih a ringhlel mai thei a, a chhan chu a ke ruh tawi leh lu lian ang chi symptoms te chu awlsam taka hriat theih a nih vang a ni.

Tin, naute chu nausen pum chhunga a la awm laiin ultrasound scan hmang pawhin Achondroplasia ang chi natna hi hriat theih a ni bawk. Diagnosis chungchangah 100% a chiang i duh chuan chutiang tur chuan special genetic test pawh a awm.

Enkawlnate chu engte nge ni?

I fain enkawlna a dawn dan tur chu Chondrodysplasia a neih chi hrang hrangah a innghat ang. Hetah hian hriatthiam tur pawimawh tak chu enkawlna tam zawk hian naupang san zawng a tipung thei lo , mahse a kaihhnawih hriselna lama harsatna dangte tihziaawm leh enkawl kawngah a pui thei a ni.

• Achondroplasia angin natna khirh lo tak tan: I fa chu a hrisel a nih chuan i fate hriselna enfiah turin i naupang enkawltu doctor pan fo mai tur a ni. Harsatna a awm chuan a tul anga enkawlna i pek a ngai dawn a ni.

• A nasat chuan naupang enkawlnaah hian specialist team an tel thei a ni. Mi tam tak, physical therapist leh nutritionist te pawh an tel a ngai mai thei. He enkawlna hi damdawi inah a thleng fo thin.

Enkawlna chungchang tam zawk

A tlem berah chuan growth hormone pek hian ruh thanna kawngah a pui a, mahse tihdamna tur a ni lo. Growth hormone hian achondroplasia ang chi natna a tidam lo.

Mi thenkhat chuan extended limb lengthening surgery an hmang thin . Mahse hei hi kalphung sawisel hlawh tak a ni. A chhan chu risk a nei a, a hrehawm hle thei bawk. A tam zawkah chuan he surgery hian inches tlemte chauh a tisang a ni. Hetiang surgery series hi taksa leh rilru lama harsatna nasa tak a nih avangin doctor-te chuan naupangin a puitlin a, a hriatthiam theih tur leh mahni thutlukna a siam theih hma loh chuan he surgery hi sawn hlat turin an rawt a ni.

Eng harsatna nge awm thei?

Chondrodysplasia chi tam zawk hi nunna atana hlauhawm lo mah se, hrehawm tak leh hun rei tak chhung harsatna a thlen thei a ni. I doctor chuan hengte hi a enkawl theih nan a pui thei che a ni.

Engtin nge nangmah leh i fate tanpuina i hmuh theih ang?

Hetiang dinhmun nena nunpui hian nang leh i fate tan pawh puihna hi a pawimawh hle. Hetiang natna vei te hian mi bik anga enkawl an duh lo. Mahse khawtlang mipuite chuan a chang chuan hnawhchhuah leh hriatthiam loh an tum thin. A bik takin sikulah chuan ṭhiante hnen aṭanga tihduhdahna a awm theihna chance a sang hle.

Chuvang chuan naupangin he dinhmun a tuar theih nan leh midangte hriatthiam theih nan counselling zawn hi a tha hle. Tin, hetiang naupang nei chhungkua ten support group an din pawh a awm bawk. An hmang hian thu hriatte in insem thei a, thil tawn te in sawi dun thei a, chakna petu in ni thei bawk.