Sinokuyichaza ngeendlela ezininzi kodwa zonke zisikhokelela ekubeni sithethe ngazo ukuphazamiseka kwamathambo okanye ukuphazamiseka. I-Achondroplasia ikhusela ukukhula kwamathambo njengoko siyazi. Ke, xa sithetha ngayo, kukwafuneka sibhekisele kwi-dwarfism, kuba iluhlobo lwayo, ukuguqulwa kohlobo lwechromosomal.
Ke, lixesha lokufunda ngakumbi malunga nayo yonke le nto. Ukusuka kwinto eyiyo ngokwenene, kutheni iqhele ukuveliswa kunye nayo yonke into obusoloko ufuna ukuyazi malunga nokuba yintoni eyaziwa ngokuba achondroplasia. Nangona mhlawumbi ngenxa yelo gama akusoloko kulula ukufumanisa ukuba yintoni na. Namhlanje siza kuphendula yonke imibuzo okanye amathandabuzo akho.
Yintoni Achondroplasia
Sisandula ukuyichaza, kodwa siya kuthi kukukhula kwamathambo. Lo nto akukho ukukhula okuchanekileyo kwenxalenye ye-cartilage. Oku kwenzeka ngokukodwa kwimida, zombini iingalo kunye nemilenze. Ngenxa yolu tshintsho, yinto esiyaziyo njenge dwarfism. Ukuguqulwa kofuzo, okuyi-receptor yokukhula, kusenza ukuba sithethe nge-achondroplasia. Abantu abahluphekayo bane-torso enomlinganiselo omhle, kodwa amalungu abo aya kuba mfutshane kunesiqhelo, nangona intloko inkulu. Kufuneka kuthiwe le yinto enokwenzeka kumntwana ngamnye kwabangama-20.000, nokuba akukho mbali yolu hlobo kwintsapho.
Zintoni izizathu
Njengoko sele sitshilo, inokuba yinto ezenzekelayo. Yiyo i in 80% yamatyala, kwenzeka ngaphandle naluphi na uhlobo ilifa entsatsheni. Kule meko, luhlobo oluthile lwenguqu. Isenokuba yinto eyenzeka kuzo zombini isidoda kunye neqanda, ngaphandle kokuba kuthethwe ngemfuza. Ngoko ke, oonobangela abanjalo abaziwa. Kuyinyani ukuba xa sele sithetha ngetyala entsatsheni, ayanda amathuba okuba abe nomntwana onale ngxaki, njengoko kuqhelekile kwezinye izifo okanye iingxaki zempilo.
Ziziphi iingxaki ezinokubakho i-achondroplasia?
Kuyinyani ukuba izifundo zibonelela ngedatha yekhonkrithi kwiingxaki ezinokuthi iintsana eziphethwe yi-achondroplasia zibe nazo. Kwisandle esinye ewe kuqhelekile ukuba babe neziqendu ze-apnea. Njengoko usazi, kukuphazamiseka kokulala kokuphefumla, apho uthintelo lwenziwa kwaye ngenxa yoko ukuphefumla kuphazamiseka. Kule meko, kunokufuna utyando ukuyisombulula. Kodwa iya kuba ngugqirha onelizwi lokugqibela malunga nokukhupha iitoni ukuze ingxaki ingapheli.
Kwakhona usulelo lwendlebe luxhaphakile. Nangona yinto enokuthi wonke umntu abe nayo, xa i-achondroplasia isempilweni yakho iya kuba yinto eqhelekileyo. Kwaye asinakukwazi ukulibala iingxaki zasemva ezinokuvela kwasebancinane kakhulu. I-Physiotherapy idlala indima ebalulekileyo apha. Ekubeni inokukhulula kwaye iphucule kakhulu. Kuthiwa ukufumba kolwelo engqondweni kusenokuba yenye ingxaki engqalileyo. Into eyaziwa ngokuba yi-hydrocephalus inokuvela kwiintsana ezine-achondroplasia, ngoko ke ukukhutshwa kwamanzi okanye ukupheliswa kolwelo oluxeliweyo ngetyhubhu kuya kufuneka. Nangona abantu abaninzi benokugula, ukutyeba kakhulu kunokuba phakathi kweengxaki. Ngaphezu kwayo nantoni na kuba xa ingalawulwa, inokukhokelela kwiingxaki ezinzulu zempilo kodwa kumntu ngamnye. Yiyo loo nto kufuneka sihlale siyithathela ingqalelo kwaye silandele izalathiso zonyango.
Uthini umahluko phakathi kwe-achondroplasia kunye ne-dwarfism?
Nangona ingumbuzo oviwa kakhulu, asikwazi ukuthetha ngeeyantlukwano kule meko. Kuba xa sithetha nge-dwarfism, kuya kufuneka sikhankanye i-achondroplasia kuba olu luhlobo lwangaphambili. Ngoko ke, zinxulunyaniswa kwaye zifuzisela into enye, ingxaki yemfuza ebesisoloko sihlomla ngayo. Ke, mhlawumbi ngale ndlela, onke amathandabuzo akho aya kusonjululwa. Akunjalo?