Ingaba umntwana wakho unengxaki enkulu ekukhuleni kwamathambo akhe? Masifunde ngeThanatophoric Dysplasia!

Njengomama oza kuba ngumama, uzele lulwazi nothando ngayo yonke into ngomntwana wakho, akunjalo? Kodwa ngamanye amaxesha, kufuneka sijongane namagama esingazange siweve kwaye anokoyikisa kancinci. Namhlanje, siza kuthetha ngesifo esingaqhelekanga kodwa esibi kakhulu esibizwa ngokuba yi "Thanatophoric Dysplasia". Nangona igama lisenokuvakala liyinkimbinkimbi kancinci, masiligcine lilula.

Yintoni iThanatophoric Dysplasia?

Ngamafutshane, i-thanatophoric dysplasia yimeko yemfuza echaphazela uphuhliso lwamathambo nemiphunga yomntwana. Idla ngokuqala xa umntwana esesesibelekweni.

Igama elithi "thanatophoric" livela kwisiGrike samandulo. Lithetha "ukuzisa ukufa." Eli gama liyoyikisa kancinci. Isizathu kukuba abantwana abaninzi abazalwa benesi sifo basengozini enkulu yokufa ngaphambi kokuzalwa (ukuzalwa emva kokuzalwa) okanye kwiintsuku ezimbalwa emva kokuzalwa ngenxa yokungasebenzi kakuhle kokuphefumla, njengoko imiphunga yabo ingakakhuli ngokupheleleyo.

Nangona kunjalo, kunqabile kakhulu ukuba kubekho iingxelo zeentsana ezizalwa nale meko ezisinda zize zibe ngabantwana ngonyango olunzulu, ingakumbi xa zingakwazi ukuphefumla. Oku kusilela kokuphefumla kwenzeka xa umzimba womntwana ungafumani ioksijini eyaneleyo okanye unekhabhoni diokside eninzi kuwo.

Ngaba kukho iintlobo ze-chondrodysplasia?

Ewe, kukho iintlobo ezimbini eziphambili zale meko ezahlulwe ngokusekelwe kumahluko kwindlela amathambo akhula ngayo:

• Uhlobo 1: Iintsana ezinalolu hlobo zinemilenze emifutshane kakhulu , isifuba esincinci kakhulu, amathanga amile okwesaphetha , kunye nomqolo othe tyaba (platyspondyly). Ngamanye amaxesha, amathambo ekhakhayi adibana ngokukhawuleza kakhulu (craniosynostosis). Olu hlobo luxhaphake kakhulu kunohlobo 2. Cinga ngalo njengezandla neenyawo ezincinci zedoli, kodwa azilingani nomzimba wonke.

• Uhlobo 2: Olu hlobo lomntwana lunamalungu amafutshane kakhulu kunye nesifuba esincinci . Nangona kunjalo, amathambo ethanga athe tye . Kwakhona, ngenxa yokuba imithungo ekhayeni ivala ngokukhawuleza, ukudumba kunokubonakala ngaphambili nasemacaleni entloko. Oku ngamanye amaxesha kubizwa ngokuba yi "cloverleaf skull" ngenxa yesimo sayo.

Ixhaphake kangakanani le meko?

I-Thanatophoric dysplasia yimeko engaqhelekanga kakhulu. Ngokwezibalo, malunga nosana olunye kwi-20,000 zokuzalwa lunokubandezeleka yile meko. Oku kuthetha ukuba ayisiyonto ibonwa rhoqo.

Ziziphi iimpawu ze-thanatophoric dysplasia?

Ngenxa yokuba le meko ichaphazela indlela imiphunga, amathambo kunye namalungu omntwana akhula ngayo esibelekweni, ezi mpawu zilandelayo zinokubonakala:

• Imiphunga ayikhuli kakuhle: Oku kungenxa yeimbambo ezimfutshane kunye nomngxuma wesifuba omxinwa. Oku kushiya indawo encinci yokuba imiphunga ivuvuke kwaye ikhule kakuhle.
• Ukugoba okungaphezulu kwesikhumba kwiingalo nasemilenzeni.
• Intloko enkulu, ibunzi eliphumayo, kunye nobuso obuthe tyaba.
• Ubude obufutshane (i-skeletal dysplasia) kunye nemilenze emifutshane kakhulu (i-micromelia).
• Amehlo abanzi.

Eyona nto ibangela ukufa kwiintsana ezizelwe zinesi sifo kukusilela kokuphefumla, okwenzeka xa imiphunga ingakhuli kakuhle. Oku kwenza kube nzima kumntwana ukuphefumla kakuhle.

Kunqabile kakhulu ukuba iintsana eziphila emva kobuntwana zibonakalise ezinye iimpawu:

• Ukukhula okungaqhelekanga kwamathambo.
• Ubunzima bokuphefumla obungapheliyo.
• Ukulahlekelwa kukuva.
• Iimeko ezifana nesifo sokuwa (ukuxhuzula).

Yintoni isizathu soku?

Eyona nto ibangela i-thalamophytic dysplasia kukuguquka kwejini ebizwa ngokuba yi-'FGFR3'. Le jini ye-'FGFR3' yiyo enika imiyalelo yophuhliso kunye nokugcinwa kwamathambo emzimbeni womntwana. Cinga ngayo njengeswitshi yokukhanyisa emzimbeni wethu. Iyavulwa xa kufuneka kwaye 'icinywe' xa umsebenzi ugqityiwe.

Kodwa xa kukho utshintsho kwi-gene ye-`FGFR3`, kuba ngathi iswitshi yokukhanya ibambeke kwindawo ethi `on`. Emva koko, iiproteni ezilawulwa yile gene zisebenza kakhulu. Ngenxa yoko, inkqubo `yokwakheka kwe-ossification`, inkqubo apho amathambo amade, i-cartilage, aba yithambo, iyathintelwa. Ngamafutshane, amathambo awakheki kakuhle.

Uninzi lweemeko ze-chondrodysplasia zibangelwa kukuguquka kwezakhi zofuzo okutsha okwenzeka kumntwana. Oku kuthetha ukuba akuzuzwa kumama okanye kutata. Ngokwesiqhelo, akukho mntu kusapho okhe waba nale meko ngaphambili. Nangona kunjalo, kunqabile kakhulu , umntwana unokuzuza olu tshintsho lwezakhi zofuzo komnye wabazali. Oku kubizwa ngokuba yi-"autosomal dominant"`.

Ichaphazela bani le meko?

I-Thanatophoric dysplasia inokwenzeka nakuwuphi na umntwana. Oku kungenxa yokuba olu tshintsho lwemfuza ludla ngokwenzeka ngokungacwangciswanga. Njengoko bekutshiwo ngaphambili, alufane lufunyanwe ngabazali.

Into ebalulekileyo kukuba olu tshintsho lwemfuza alubangelwa yiyo nantoni na eyenziwe ngumama ngexesha lokukhulelwa. Ngoko ke, musa ukuzibeka ityala ngale nto.

Ifunyanwa njani i-thanatophoric dysplasia?

Le meko idla ngokufunyaniswa xa umntwana esesesibelekweni. Ngexesha lokuhlolwa kwe-ultrasound ngexesha lokukhulelwa,Le meko inokuchongwa. Ugqirha wakho uza kucebisa iimvavanyo ezinokubona iimeko ezahlukeneyo zemfuza ngexesha lokukhulelwa. Ngexesha lokuskena, oogqirha bakhangela iimpawu ezinjengokwanda kolwelo lwe-amniotic olujikeleze umntwana (i-polyhydramnios) kunye nokuphazamiseka kophuhliso lwamathambo.

Ukuba, emva kovavanyo oluthile, kufunyenwe utshintsho kwijini ethi `FGFR3`, oogqirha baya kuthatha amanyathelo afunekayo ukuze baphephe iingxaki ezinokubakho ngexesha lokukhulelwa.

Emva kokuba umntwana ezelwe, kunokwenziwa i-X-ray yamathambo omntwana kunye ne-ultrasound yezitho zangaphakathi, ingakumbi imiphunga , ukuze kuqinisekiswe ukuba kukho naluphi na unyango lokuphefumla olufunekayo.

Luhlobo luni lovavanyo olwenziwayo koku?

Ngexesha lokukhulelwa, ugqirha wakho unokucebisa iimvavanyo ezifana nezi ukuze kufunyanwe iimeko zemfuza:

• I-Amniocentesis: Oku kuquka ukuthatha isampuli encinci yolwelo lwe-amniotic olujikeleze umntwana phakathi kweeveki ezili-15 nezingama-20 zokukhulelwa kwaye uluvavanye ukuze kufunyanwe iimeko ezahlukeneyo zempilo.
• I-Chorionic Villus Sampling (CVS): Kule meko, phakathi kweeveki ezili-10 ukuya kwezili-13 zokukhulelwa, kuthathwa isampuli encinci yeeseli kwi-placenta ize ivavanywe ukuba ifuna ukuxilongwa ngeemeko zemfuza.

Iphathwa njani i-thanatophoric dysplasia?

Iintsana ezisindayo emva kokuzalwa ziya kuqala ngoko nangoko unyango lokuxhasa imiphunga yazo engakhulanga kakuhle . Oku kunceda umntwana ukuba aphefumle ngcono. Olu ncedo lokuphefumla lungabandakanya:

• Ukufakwa kwetyhubhu kwi- windpipe (tracheostomy).
• Ukubonelela ngeoksijini eyongezelelweyo ngeempumlo (umz., umatshini othi `Continuous Positive Airway Pressure` okanye `CPAP`).
• Ukunika ii-bronchodilators.
• Ukusebenzisa umatshini (i-ventilator) ukunceda ukuhambisa umoya emiphungeni.

Ukongeza, unyango lukwasetyenziselwa ukunciphisa ezinye iimpawu zesifo. Umzekelo:

• Ukusetyenziswa kwezixhobo zokuncedisa ukuva kubantu abanengxaki yokuva.
• Ukubonelela ngamayeza okuthintela ukuxhuzula kwisifo sokuxhuzula.
• Utyando ukuba kuyimfuneko ukulungisa iingxaki ekukhuleni kwamathambo.

Nangona iintsana ezininzi ezifunyaniswe zine-thanatophoric dysplasia zingaphili, iqela lakho lezonyango liza kukufundisa ngezixhobo kunye nenkxaso oyifunayo wena kunye nabantu obathandayo ukuze nijamelane nentlungu kunye nentuthuzelo eza nolu xilongo. Ingcebiso yosizi, okanye ingcebiso yosizi, yindlela yokukunceda ujamelane nale meko ibuhlungu kwaye ulawule eli xesha linzima. Iingcali zempilo yengqondo nazo ziyafumaneka ukukunceda ujamelane nentlungu yakho.

Yintoni onokuyilindela ukuba unomntwana ofunyaniswe ene-thanatophoric dysplasia?

Enyanisweni, ingqikelelo yeentsana ezifunyaniswe zine-thanatophoric dysplasia ayilunganga kangako. Isizathu esiphambili soku kukuba imiphunga ayikhuli ngokwaneleyo. Ubomi bazo bufutshane kakhulu. Uninzi lweentsana ziyafa zizelwe zifile okanye kwiiveki zokuqala zokuzalwa.

Iintsana ezisindayo emva kokuzalwa zifuna ukhathalelo olunzulu ukuze zixhase imiphunga yazo kwaye zizinzise ukuphefumla kwazo. Zihlala zifuna uncedo lomatshini wokuphefumula ebuntwaneni bazo bonke.

Ukulahlekelwa ngumntwana yinto ebuhlungu kakhulu kwaye kunzima ukuyinyamezela. Inokuba nefuthe elikhulu kwimpilo yakho yengqondo nakwimeko yakho yeemvakalelo. Kukho iinkonzo zenkxaso ezifumanekayo kubazali abasweleyo kunye namalungu osapho ukubanceda bajongane nale lahleko.

Ndingayinciphisa njani ingozi yomntwana wam yokuba ne-chondrodysplasia?

Ngenxa yokuba le meko idla ngokuba yimbangela yotshintsho olutsha lwemfuza olwenzeka ngokungacwangciswanga, akukho ndlela yokuthintela i-thanatophoric dysplasia. Ukuba uceba ukukhulelwa, thetha nogqirha wakho malunga novavanyo lwemfuza ukuze uqonde umngcipheko wokuba nomntwana onemeko yemfuza.

Ndingazinyamekela njani ukuba umntwana wam ufunyaniswe ene-thanatophoric dysplasia?

Ukufumanisa ukuba umntwana wakho une-chondroplasia yinto enzima kakhulu kwaye ibuhlungu. Iqela lakho lezonyango liza kukunceda wena nabantu obathandayo ukuba nijongane neli xesha linzima. Baza kubonelela ngononophelo olulandelayo ukuqinisekisa ukuba wena nosapho lwakho niphilile kakuhle emva kokulahlekelwa ngumntwana wakho.

Ukuba uziva ulusizi, uxhalabile, udandathekile, okanye ungenathemba, kwaye unengxaki yokujongana nokulahlekelwa ngumntwana, kubalulekile ukufowunela ugqirha wakho. Banokukuthumela kwingcali yezempilo yengqondo okanye kwiqela lenkxaso yabaswelekelweyo. Apho, ungabelana ngeemvakalelo zakho nabanye abaye badlula kumava afanayo. Ukuba nenethiwekhi yenkxaso ekufutshane nawe kunokukunceda ukulawula intlungu yakho.

Kufuneka uye nini kwigumbi likaxakeka?

Ukuba umntwana wakho ozelwe ene-thanatophoric dysplasia unobunzima bokuphefumla , ubetha intliziyo ngendlela engacwangciswanga okanye ekhawulezayo , okanye ulusu olujikeleze imilebe, umlomo, neminwe lujika lube luhlaza okwesibhakabhaka, mfusa, okanye lube mthubi , oku kungaba luphawu lokuphazamiseka kokuphefumla kunye nokungabikho komoya-mpilo. Fowunela u-911 (okanye inombolo yakho yongxamiseko yasekuhlaleni) ngoko nangoko okanye uye kwigumbi longxamiseko elikufutshane.

Ndingayibuza yiphi imibuzo ugqirha wam?

• Ndingafumana uvavanyo lwemfuza ukuba ndiceba ukukhulelwa?
• Ukuba ndizama ukuba nomnye umntwana, ngaba likho ithuba lokuba loo mntwana naye abe ne-chondrodysplasia?
• Zeziphi izixhobo onokundicebisa ngazo ukuze ndikwazi ukumelana nentlungu yokufelwa ngumntwana wam?

Nokuba wenza konke okusemandleni akho ukuze ukhulelwe kakuhle, utshintsho lwemfuza lunokukhokelela kwiingxaki ezisongela ubomi, ezifana ne-thyrotoxicosis. Ngeli xesha linzima, unokuziva ulusizi, unomsindo, udidekile, ungenakunceda, okanye ulahlekile. Ke ngoko, kubaluleke kakhulu ukuba neqela elikuxhasayo elikujikelezileyo. Unokufumana intuthuzelo xa uthetha nengcali yezempilo yengqondo okanye ujoyina iqela elikuxhasayo. Iqela lakho lezonyango likulungele ukuphendula yonke imibuzo yakho kwaye likuncede uvumelane nale lahleko.

Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Thanatophoric dysplasia yimeko enzima kakhulu, engaqhelekanga, nenzima kubazali ukujongana nayo. Ukufunda ngayo kunokuba yinto edidayo neyoyikisayo.

Eyona nto ibalulekileyo kukwazi ukuba awuwedwa. Oogqirha, abahlengikazi, abacebisi, kunye nosapho lwakho kunye nabahlobo bakho bakhona ukukuxhasa ngeli xesha.

• Le meko idla ngokubangelwa kukuguquka kwezakhi zofuzo okungacwangciswanga. Oku kuthetha ukuba ayilotyala lakho.
• Kukho iimvavanyo zokukhulelwa ezinokubona le meko ngexesha lokukhulelwa.
• Unyango lujolise kakhulu ekuxhaseni ukuphefumla komntwana kunye nokulawula iimpawu zakhe.
• Kubaluleke kakhulu ukufuna uncedo loncedo lwengqondo xa ujongene nokulahlekelwa ngolu hlobo.

Siyathemba ukuba olu lwazi lukuncedile ukuba uqonde ngakumbi le meko inzima. Ukuba unemibuzo engaphezulu, ungathandabuzi ukuthetha nogqirha wakho.

I- thanatophoric dysplasia, imeko yemfuza, isiphene sokuzalwa, uphuhliso lwamathambo, uphuhliso lwamaphaphu, i-FGFR3 gene, ukusilela kokuphefumla, ukuxilongwa kokukhulelwa, izifo zemfuza, uphuhliso lwamathambo, uphuhliso lwamaphaphu, impilo yomntwana ongekazalwa