Ngamanye amaxesha siye sabona abantu abafutshane kakhulu kunomndilili, oko kukuthi, abafutshane, akunjalo? Mhlawumbi kwiimuvi, okanye nakubomi bokwenyani. Esinye isizathu soku singaba yimeko ebizwa ngokuba yiChondrodysplasia. Musa ukoyika xa usiva eli gama. Eli ligama eliqhelekileyo lezifo ezininzi ezinxulumene nokukhula kwamathambo ezibangelwa lutshintsho kwiijini zomzimba wethu. Oogqirha badla ngokuxilonga le meko phantse kwangoko nje ukuba umntwana azalwe.
Cinga nje, olu asilohlobo olunye lwesifo. Kwelinye icala, abanye abantu abanale meko banokuphila ubomi obuqhelekileyo ngaphandle kwemida emikhulu. Umzekelo, abo babukele i-'Game of Thrones' baya kwazi umlinganiswa kaTyrion Lannister. Umdlali weqonga odlala loo mlinganiswa, uPeter Dinklage, unesifo esibizwa ngokuba yiAchondroplasia, esiluhlobo lweChondrodysplasia. Uphila ubomi obuphumelelayo nobupheleleyo. Kodwa, kwelinye icala, kukwakho neentlobo ezinzima nezibuhlungu zale meko. Umzekelo yiRhizomelic Chondrodysplasia Punctata (RCDP1). Esi sifo sibangela ukukhula okungalindelekanga kwiintsana, iingxaki zamathambo, iingxaki zengqondo , kunye ne -cataracts . Abantwana abaninzi abanale meko inzima abaphili ngaphaya kobuntwana. Kodwa kukho ithemba. Abaphandi bazama ukufumana unyango lweRCDP1.
Zithini izizathu zoku?
Ngamafutshane, ezi meko ziyimfuza . Oku kuthetha ukuba zibangelwa lutshintsho oluthile okanye iziphene kwiimfuza ezingaphakathi kwiiseli zomzimba wethu. Ngamanye amaxesha ezi ziphene zemfuza zinokufunyanwa ngabazali ukuya ebantwaneni. Imeko enzima ebizwa ngokuba yi-RCDP1 yenye yezi meko zizuzwe njengelifa.
Nangona kunjalo, uhlobo oluqhelekileyo, njenge-Achondroplasia, ludla ngokubangelwa kukuguquka okungacwangciswanga. Oku kuthetha ukuba umntwana unokuyihlakulela nokuba akukho mzali ungenayo le meko.
Zithini iimpawu zale meko?
Ngaphandle kwenkangeleko yomntu, iimpawu zixhomekeke kuhlobo lweChondrodysplasia anayo. Iimpawu eziphambili zimfutshane (ubufutshane bomzimba) kunye nobukhulu bentloko enkulu kuneqhelekileyo . Kodwa kukho ezinye iimpawu ezinokubakho. Makhe sijonge ukuba ziyintoni na.
| Indawo yomzimba apho iimpawu zinokwenzeka khona | Ingxaki enokwenzeka |
|---|---|
| Uphuhliso lobuchopho | Kwezinye iintlobo, uphuhliso lobuchopho lunokuchaphazeleka kwaye ukukhubazeka kwengqondo kunokwenzeka. Nangona kunjalo, kwiintlobo ezifana ne-Achondroplasia, ukukhubazeka kwengqondo akubonakali. |
| Ulusu | Ulusu luba rhabaxa kwaye lube namaqhuqhuva. |
| Umlomo | Impumlo eqhekekileyo. |
| Amehlo | Ukuphazamiseka kokubona okubangelwa yi-cataracts. |
| Umqolo | Ukwenzeka kokukhubazeka komqolo. |
Yenziwa njani le nto yokuxilonga?
Amaxesha amaninzi, ugqirha unokurhanela ukuba umntwana unale meko kwangoko nje ukuba uzalwe, kuba iimpawu ezifana namalungu amafutshane kunye nentloko ekhulisiweyo zinokubonwa lula.
Ukuqinisekisa oku kurhanelwa, ugqirha uyalela ukuba kwenziwe i-X-ray . I-X-ray ibonisa ukuba amathambo ezingalweni nasemilenzeni yomntwana mafutshane kwaye abanzi ngokungaqhelekanga.
Ukongeza, iimeko ezifana ne-Achondroplasia zinokufunyanwa nokuba umntwana usesesibelekweni nge- ultrasound . Ukuba ufuna ukuqiniseka ngokupheleleyo ngesi sifo, kukho novavanyo olukhethekileyo lwemfuza lwaloo nto.
Zithini iindlela zonyango?
Iindlela zonyango umntwana wakho azifumanayo ziya kuxhomekeka kuhlobo lweChondrodysplasia anayo. Into ebalulekileyo ekufuneka uyiqonde apha kukuba uninzi lonyango alunakunyusa ubude bomntwana , kodwa lunokunceda ekunciphiseni nasekulawuleni ezinye iingxaki zempilo ezinxulumene nayo.
- Kwimeko engekho nzima njenge-achondroplasia: Ukuba umntwana wakho uphilile, okufuneka ukwenze kukutyelela ugqirha wabantwana rhoqo ukuze ujonge impilo-ntle yomntwana wakho. Ukuba kukho naziphi na iingxaki eziphakamayo, kuya kufuneka unikezele ngonyango olufunekayo.
- Kwiimeko ezinzima, iqela leengcali linokuba yinxalenye yokunyanga umntwana. Abantu abaninzi, abanjengoogqirha bezonyango kunye neengcali zesondlo, banokufuna ukuba yinxalenye. Olu nyango ludla ngokwenzeka esibhedlele.
Okungakumbi malunga nonyango
Kwezinye iimeko ezingaqhelekanga, ukunika iihomoni zokukhula kuye kwanceda ekukhuleni kwamathambo, kodwa akuyonto iqinisekisiweyo. Iihomoni zokukhula azinyangi izifo ezifana ne-achondroplasia.
Abanye abantu bakhetha utyando lokwandisa amalungu omzimba . Kodwa le yinkqubo ephikisana kakhulu. Kuba ineengozi kwaye inokuba buhlungu kakhulu. Kwiimeko ezininzi, olu tyando lonyusa ubude ngeesentimitha ezimbalwa kuphela. Ngenxa yokuba olu luhlu lotyando lufuna kakhulu emzimbeni nasengqondweni, oogqirha bacebisa ukuba olu tyando luhlehliswe de umntwana abe mdala ngokwaneleyo ukuba aqonde aze akwazi ukwenza izigqibo zakhe.
Ziziphi iingxaki ezinokubakho?
Uninzi lweentlobo ze-chondrodysplasia azisongeli ubomi, kodwa zinokubangela iingxaki ezibuhlungu nezihlala ixesha elide. Ugqirha wakho unokukunceda ukuba uzilawule ezi ngxaki.
| Ingxaki | Ingcaciso elula |
|---|---|
| Ubunzima bokuphefumla | Ubukhulu obuncinci bomngxuma wesifuba bunokubangela ubunzima bokuphefumla. |
| Intlungu yomqolo kunye nokutsalwa komqolo | Utshintsho kumqolo lunokubangela iintlungu nokuqina. |
| I-stenosis yomgogodla | Ukucinezelwa kwemithambo-luvo ngenxa yokuncitshiswa komjelo apho intambo yomgogodla idlula khona ngaphakathi komqolo. |
| Iingxaki ezidibeneyo | Intlungu yamalungu kunye nobunzima bokuhamba. |
| Usulelo oluqhelekileyo lwemiphunga | Utshintsho kwindlela yokuphefumla lunokubangela usulelo oluqhelekileyo emiphungeni. |
| Ukuxhuzula | Kwezinye iintlobo ezinzima, ukuxhuzula kunokwenzeka ngenxa yeziphumo ekuphuhlisweni kwengqondo. |
| Ukuphelelwa ngamandla kokulala | Ukuyeka ukuphefumla okomzuzwana ngexesha lokulala. |
Ungayifumana njani inkxaso wena nomntwana wakho?
Xa uphila nale meko, inkxaso kuwe nakumntwana wakho ibaluleke kakhulu. Abantu abanale meko abakuthandi ukuphathwa njengabantu abakhethekileyo. Kodwa abantu kuluntu ngamanye amaxesha bazama ukubabeka bucala kwaye bangabaqondi kakuhle. Ingakumbi esikolweni, kukho amathuba aphezulu okuxhatshazwa ngoontanga.
Ngoko ke, kulungile kakhulu ukufuna iingcebiso ukuze kuncedwe umntwana akwazi ukumelana nale meko nokunceda abanye baqonde oku. Kwakhona, kukho amaqela enkxaso aqulunqwe ziintsapho ezinabantwana abanjengale. Ngawo, ninokwabelana ngolwazi, nithethe ngamava, kwaye nibe ngumthombo wokomelezana.
Umyalezo Wokuya Ekhaya
- I-Chondrodysplasia ayisosifo esinye. Ligama eliqhelekileyo elithetha iimeko ezininzi zemfuza ezichaphazela ukukhula kwamathambo.
- Ubunzima bale meko buyahluka kumntu nomntu. Nangona abanye abantu benokuba nemiphumo engemihle, abanye banokuba neengxaki ezinkulu. Abantu abaninzi abaneengxaki ezifana ne-achondroplasia baphila ubomi obupheleleyo nobuphumelelayo.
- Injongo ephambili yonyango asikokunyusa ubude, kodwa kukulawula iingxaki zempilo ezinxulumene noko (ezifana neentlungu zomqolo, ubunzima bokuphefumla).
- Wakuba usazi ukuba umntwana wakho unale meko, kubaluleke kakhulu ukufuna uncedo kwiqela loogqirha abaziingcali.
- Kunye nonyango, inkxaso yengqondo kunye neengcebiso zomntwana kunye nosapho nazo zibaluleke kakhulu. Kubalulekile ukuqinisa umntwana ukuze ajongane nokuxhatshazwa ekuhlaleni.
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