U-Olivia Farnsworth, intombazana encinci entle eyothusa oogqirha xa bafumanisa ukuba unechromosome engaqhelekanga eyazikhuphayo iimvakalelo zendlala, ukudinwa okanye iintlungu ebomini bakhe ngonaphakade. Yimeko yonyango “enqabileyo kunenqabileyo”.
Intombazana 'yebhionic' uOlivia Farnsworth
Intombazana yase-UK u-Olivia kukholelwa ukuba ingoyena mntu ehlabathini ukubonisa ezi mpawu zindawonye. Kuyinto engaqhelekanga kwaye ingummangaliso ngaxeshanye.
Ukuphazamiseka okungaqhelekanga kuye kumvumela ukuba ahambe iintsuku ezintlanu ukuya kwezintandathu ngaphandle kokulala nokondla. Ubomi bakhe bulungile engaqhelekanga ngendlela engakholelekiyo singqongwe yinzululwazi-imfihlakalo engachazwanga. Ukuthi, u-Olivia unesakhono esingaqhelekanga somntu esitsala izigidi zabantu ukuba zilazi ibali lakhe elinomdla.
Nangona imeko enqabileyo ka-Olivia omncinci ichazwa "njengokususwa kwechromosome 6", ukudityaniswa kobuchule obuphezulu bomntu ngale ndlela akukaze kuxelwe ngaphambili. Abanye oogqirha bade bambiza ngokuba "yintombazana entle" eyenziwe ngentsimbi kwaye ayinangqondo yengozi.
Zijonge njani iimpawu zempilo kaOlivia
Ngo-2016, xa u-Olivia wayeneminyaka esi-7 kuphela ubudala, wakha waphuma nonina kwaye wabaleka. Ekugqibeleni, watshayiswa yimoto yaza yarhuqa malunga neemitha ezili-100 ukuhla endleleni. Emva kwaloo ngozi imbi, wasuka waphakama waza waqalisa ukubuyela kunina. Wayengathi, "Kwenzeka ntoni?"
Ngenxa yempembelelo, bekufanele ukuba wenzakele kakhulu. Wayenophawu lwetayara esifubeni. Kodwa ukonzakala kwakhe kuphela wayengenalo ulusu kuzwane nakusinqe.
Kwakhona, wawa kakubi kwaye wakrazula umlomo wakhe kwaye akazange athethe nto kubazali bakhe. Emva kwexesha, kwafuneka enziwe uqhaqho olukhulu lweplastiki ukuze ayilungise.
Yintoni i-chromosome disorder?
I-Chromosome abnormality okanye i-chromosome disorder yinto engekhoyo, eyongezelelweyo, okanye inxalenye engaqhelekanga ye-chromosomal DNA. Abantu abanengxaki yechromosome bathwaxwa zizifo ezahlukeneyo kunye nokukhubazeka - enye ingxaki eqhelekileyo yi-Down's Syndrome esisifo se-chromosome 21 sofuzo esibangela ukulibaziseka kokukhula kunye nobukrelekrele. Kodwa imeko yeBionic Girl uOlivia iyamangalisa kwaye inomdla ngakumbi ukwenza nabani na othuke ngokupheleleyo.
Isifo sokususa i-chromosomal syndrome: Yintoni le? Kwaye ichaphazela njani umntu?
Ngaphakathi kwinucleus yeseli nganye yomzimba wethu yimizimba microscopic ebizwa ngokuba ngama chromosomes anoxanduva lomsebenzi kunye nokuzala kwakhona kweseli nganye emzimbeni wethu, esinika amandla okuba siphile. IiChromosomes zenziwe ngeemolekyuli ezinkulu ezimbini okanye imicu ye-deoxyribonucleic acid (i-DNA), eneneni, le micu ibizwa ngokuba yimfuza, enika imiyalelo elawula ukusebenza kweseli nokuzala kwayo. Ukutsho, imizila yemfuza ilawula yonke into ukuze isenze siphile.
Iiseli zomntu zinama-23 ee-chromosomes (isibini "see-chromosomes zesini" ezibonisa ukuba yindoda okanye ibhinqa kunye nama-22 ama-"autosomes" aqulathe lonke ulwazi lwemfuzo), enika i-46 iyonke kwiseli nganye. Ngenxa yoko, sihlala sineentlobo ezingama-23 ze-chromosomes kwaye sineekopi ezimbini ze-chromosome nganye.
Ii-syndromes zokucinywa kweChromosomal zibangelwa kukususwa ngokuyinxenye okanye ngokusisigxina kwisibini esinye okanye ezininzi ze-chromosome-pair. Nangona kunjalo, ii-syndromes zokususa i-chromosomal zibonisa ukususwa okukhulu okanye ukucinywa kokubini okubonakalayo kusetyenziswa Ukuchwetheza ubuchule. Nangona kunjalo, ezinye iilahleko zomsebenzi othile wobuchwephesha zithathwa njengenxalenye yokususwa kweChromosome, kuba iyindlela encinci yokususa okanye ekuthiwa-njalo 'I-Chromosomal Microdeletion-syndrome'.
Kukho amakhulu ezifo kunye nokukhubazeka okunxulunyaniswa nesibini sokucinywa kwe-chromosome okanye ukulahleka kohlobo oluthile lomsebenzi. Eminye imizekelo yala ma-syndromes akhankanywe apha ngezantsi:
- Ukuchithwa kweChromosome 5 ebangela i-cri du chat syndrome, isifo sika-Parkinson, njl.
- Ukuchithwa kweChromosome 4 ebangela i-Wolf-Hirschhorn syndrome, umhlaza wesinyi, i-lymphocytic leukemia engapheliyo, njl.
- Isifo sikaPrader – Willi - eneneni, le ngxaki yemfuza yenzeke ngenxa yokulahleka kwemisebenzi ethile yemfuza, endaweni yokucima i-chromosome. Kwiintsana ezisandula ukuzalwa iimpawu ziquka izihlunu ezibuthathaka, ukungondleki kakuhle, nokukhula kancinci.
- Angelman Syndrome (AS) – kukuphazamiseka kwemfuza okuchaphazela kakhulu inkqubo yemithambo-luvo. Iimpawu ziquka intloko encinci kunye nembonakalo ethile yobuso, ukukhubazeka kwengqondo okunzima, ukukhubazeka kophuhliso, iingxaki zokuthetha, iingxaki zokulinganisela kunye nokunyakaza, ukuxhatshazwa, kunye neengxaki zokulala. Kwakhona kwenzeka ngenxa yokusebenza-ilahleko yemfuza ethile ethile.
Ukususwa kweChromosome 6 kuka-Olivia Farnsworth
Kwimeko ka-Olivia Farnsworth, IChromosome 6 ishiywe ngokupheleleyo edla ngokudlula ngaphezulu kwe-170 yezigidi zesibini (izinto zokwakha ze-DNA) kwaye imele phakathi kwe-5.5 kunye ne-6% ye-DNA iyonke kwiiseli. Inayo Ubunzima be-Histocompatibility Complex, equlathe ngaphezu kwe-100 yemfuza enxulumene nempendulo yomzimba yokuzikhusela, ezinye iimpendulo zomzimba kunye nemisebenzi yazo eyahlukeneyo entsonkothileyo. Olu hlobo lokususa i-chromosomal aluzange luxelwe ngaphambili, kwaye abaphandi basafumanisa ukuba kutheni kwaye kutheni le nto akhula esi sifo singaqhelekanga!
Nangona kunjalo, zininzi ezahlukeneyo iichromosome 6 aberrations kunokwenzeka, nganye ineempawu ezahlukeneyo, kwaye zonke zinqabile kakhulu. Ulwazi oluthe vetshe kunye nethuba lokubhalisa kunye nokuthatha inxaxheba kwi "Chromosome 6 Research Project" iyafumaneka Chromosome6.org.
Ikamva lika-Olivia Farnsworth
U-Olivia ngoku uhlala kwisiXeko saseHuddersfield, e-UK. Umama wakhe uNikki Trepak umkhathalele kangangoko kunokwenzeka. Nangona uOlivia engaziva elambile, kufuneka atye. Akaziva zintlungu, kodwa umzimba wakhe ungasokola, ngokulula akasoze ayiqonde. Ngombulelo, unosapho oluxhasayo oluhlala lukhathalela u-Olivia wabo omncinci.
Umama kaOlivia ngalo lonke ixesha uyaqinisekisa ukuba uOlivia akutyi ukutya kwaye utya iikhalori eziyimfuneko ukuze azenze usempilweni. Kodwa eyona nto ibuhlungu kukuba uOlivia omncinci unikwa iipilisi zokulala busuku ngabunye ukuze aphumle. Ukongeza, bathatha uvavanyo lweeveki ngeeveki ukujonga ukuba akanalo na ukonzakala ngaphakathi okanye ukugula.
Ukulandela iingcebiso zoogqirha, abazali baka-Olivia bayaqhubeka nokumkhulisa njengabanye abantwana. Bamthumela esikolweni. Nokuba phakathi kwabo bonke ubunzima, waziwa njengomfundi okrelekrele esikolweni. Ulungile nakwezemidlalo nakwimidlalo. Nangona kunjalo, inye ingxaki kukuba uOlivia uba nomsindo kakhulu xa umntu emgculela okanye emhlazisa. Emva koko uzama ukubenzakalisa ngento ethile okanye ukubetha intloko yakhe eludongeni ngenkani.
Abazali baka-Olivia bathatha ixesha lokudibana kunye noochwephesha bezengqondo kunye noogqirha bengqondo kule ngxaki, kodwa akukho nto banokuyenza ngayo. Ngokwabo, ezi ziimpawu zeengxaki zokwakheka kwe-chromosome ka-Olivia.
Kuyinyani ukuba umzimba ka-Olivia uneempawu ezithile ezizodwa ezinomdla ebantwini ukusukela ekuqaleni. Kodwa nabani na unokuziva ngokuchanekileyo ukuba u-Olivia kunye nosapho lwakhe bachitha njani iintsuku kwimeko ekhathazayo.
Ngapha koko, oogqirha abayazi indlela yokujongana nemeko engaqhelekanga ka-Olivia Farnsworth, okanye ukuba inokunyangwa kuba ilityala lokuqala kwimbali.
Ngeso sizathu, umama wakhe uNikki Trepak kunye nosapho bathathe isigqibo sokuba nephepha lokubuyisa imali ukuze libancede baqhubeke nokuxhasa ngemali uphando. Uxhaswe liqela le-chromosome disorder support group eyodwa.
Emva kokufunda malunga no-Olivia Farnsworth, funda malunga UAmina Ependieva - intombazana yaseChechen ethandwa ngenxa yobuhle bayo obungaqhelekanga. uze ufunde malunga UNatasha Demkina: Inenekazi elinamehlo eX-reyi!
