U-Olivia Farnsworth, intombazanyana enhle eyamangaza abezokwelapha lapho bethola ukuthi unesifo se-chromosome esiyinqaba esishiya imizwa yendlala, ukukhathala noma ubuhlungu empilweni yakhe unomphela. Isimo sezempilo “esingavamile kunevelakancane”.
Intombazane 'ye-bionic' u-Olivia Farnsworth
Intombazane yase-UK u-Olivia kukholakala ukuthi nguyena kuphela emhlabeni okhombisa lezi zimpawu ezintathu ndawonye. Kuyaxaka futhi kuyisimangaliso ngasikhathi sinye.
Ukuphazamiseka okuxakile kuze kumvumele ukuthi ahambe izinsuku ezinhlanu kuya kweziyisithupha engalali nokudla. Impilo yakhe ilungile ngendlela engakholakali sizungezwe isayensi-imfihlakalo engachazeki. Ukusho ukuthi, u-Olivia unamakhono angavamile omuntu aheha izigidi zabantu ukuba zazi indaba yakhe ethakazelisayo.
Nakuba isimo esiyivelakancane sika-Olivia sichazwa ngokuthi “ukususwa kwe-chromosome 6”, ukuxubana kwamakhono angaphezu komuntu ngendlela enjalo akukaze kubikwe ngaphambilini. Abanye odokotela baze bambize nange "ntombazane eyibhiliyoni" eyenziwe ngensimbi futhi engenayo nengozi yobungozi.
Ziqale kanjani ukuvela izimpawu zalesi simo sezempilo esingajwayelekile empilweni ka-Olivia
Ngo-2016, lapho u-Olivia eneminyaka engu-7 kuphela ubudala, wake waphuma nonina futhi wagijima. Ekugcineni, washayiswa imoto futhi yamdonsa cishe ngamamitha angu-100 emgwaqeni. Ngemva kwaleyo ngozi embi, wavele wasukuma waqala ukuhamba ebuyela kunina. Wayesengathi, “Kwenzekani?”
Ngenxa yomthelela, bekufanele ngabe ulimale kanzima. Ubenophawu lwethayi esifubeni. Kodwa ukulimala kwakhe kuphela wayengenaso isikhumba ezinzwaneni nasesinqeni.
Futhi, wake wawa kabi futhi waklebhula umlomo wakhe futhi akazange asho lutho kubazali bakhe. Kamuva, kwadingeka ahlinzwe ngoplastiki ukuze ayilungise.
Kuyini ukuphazamiseka kwe-chromosome?
Ukungajwayelekile kwe-Chromosome noma ukuphazamiseka kwe-chromosome ingxenye engekho, eyengeziwe, noma engajwayelekile ye-chromosomal DNA. Abantu abanokuphazamiseka kwe-chromosome bahlushwa izifo nokukhubazeka okuhlukahlukene - isifo esisodwa esivamile i-Down's Syndrome okuwufuzo ukuphazamiseka kwe-chromosome 21 okubangela ukubambezeleka kokukhula nokuhlakanipha. Kepha icala le-Bionic Girl u-Olivia liyinqaba futhi lijabulisa kakhulu ukwenza noma ngubani amangale.
I-chromosomal deletion syndrome: Kuyini? Futhi kumthinta kanjani umuntu?
Ngaphakathi kwe-nucleus yeseli ngalinye lomzimba wethu kunemizimba emincane kakhulu ebizwa ngama-chromosomes ebhekele ukusebenza nokukhiqizwa kweseli ngalinye emzimbeni wethu, okusinika amandla okuphila. Ama-chromosomes enziwa ngama-molecule amabili amakhulu noma imicu ye-deoxyribonucleic acid (i-DNA), empeleni, le micu ibizwa ngezakhi zofuzo, ezinikeza iziyalezo ezilawula ukusebenza kweseli nokuzala. Ukusho lokhu, izakhi zofuzo zilawula konke ukusenza siphile.
Amaseli womuntu anezimbhangqwana ezingama-23 zama-chromosomes (ama-pair of "chromosomes sex" akhombisa abesilisa noma abesifazane kanye nama-pair of "autosomes" angama-22 aqukethe yonke imininingwane yezofuzo), enikeza ingqikithi yama-46 ngeseli ngalinye. Ngakho-ke, imvamisa sinezinhlobo ezingama-23 zama-chromosomes futhi sinamakhophi amabili e-chromosome yethu ngayinye.
Ama-syndromes okususa i-Chromosomal aqhamuka ekususweni ngokwengxenye noma ngokuphelele kwe-pair eyodwa noma eminingi ye-chromosome-pair. Kodwa-ke, ama-syndromes okususa i-chromosomal uqobo akhombisa ukususwa okukhulu noma ukususwa ngababili okuphelele okubonakalayo kusetshenziswa I-karyotyping amasu. Yize kunjalo, okunye ukulahleka kohlobo oluthile lomsebenzi wezakhi zofuzo nakho kubhekwa njengengxenye yokususwa kweChromosome, njengoba kuyindlela encane yokususa noma okuthiwa 'I-Chromosomal Microdeletion-syndrome'.
Kunamakhulu ezifo nokukhubazeka okuxhunyaniswe nokususwa kwe-chromosome noma ukulahleka kohlobo oluthile lomsebenzi. Ezinye izibonelo zalawo ma-syndromes zikhonjwe ngezansi lapha:
- Chromosome 5-Ukususwa okubanga i-cri du chat syndrome, isifo sikaParkinson, njll.
- Chromosome 4-Ukususwa lokho kubangela i-Wolf-Hirschhorn syndrome, umdlavuza wesinye, umdlavuza we-lymphocytic leukemia, njll.
- Isifo i-Prader – Willi - empeleni, lokhu kuphazamiseka kofuzo kwenzeka ngenxa yokulahleka kwemisebenzi ethile yofuzo, esikhundleni sokususwa kwe-chromosome. Ezinsaneni ezisanda kuzalwa, izimpawu zihlanganisa imisipha ebuthaka, ukungondleki kahle, nokukhula kancane.
- I-Angelman Syndrome (AS) – wukuphazamiseka kofuzo okuthinta kakhulu isimiso sezinzwa. Izimpawu zihlanganisa ikhanda elincane kanye nokubukeka okuthile kobuso, ukukhubazeka okukhulu kwengqondo, ukukhubazeka kokukhula, izinkinga zokukhuluma, izinkinga zokulinganisela nokunyakaza, ukuthunjwa, nezinkinga zokulala. Kwenzeka futhi ngenxa yokulahleka komsebenzi kwezinye izakhi zofuzo ezithile.
Ukususwa kweChromosome 6 kuka-Olivia Farnsworth
Endabeni ka-Olivia Farnsworth, I-Chromosome 6 kukhishiwe ngokuphelele okuvame ukwaba ngaphezu kwamabhangqa ayisisekelo angaphezu kwezigidi eziyi-170 (izinto zokwakha ze-DNA) futhi amele phakathi kuka-5.5 no-6% we-DNA isiyonke engqamuzaneni. Iqukethe ifayela le- I-Major Histocompatibility Complex, equkethe izakhi zofuzo ezingaphezu kwekhulu ezihlobene nokuphendula komzimba, ezinye izimpendulo zomzimba nemisebenzi yazo ehlukahlukene eyinkimbinkimbi. Lolu hlobo lokususwa kwe-chromosomal alukaze lubikwe ngaphambilini, futhi abacwaningi basathola ukuthi wakhula kanjani futhi kungani enza lesi sifo esingajwayelekile nesingavamile!
Kodwa-ke, kunokuhlukahluka okuningi okuhlukile kwe-chromosome 6 okungenzeka, ngakunye kunezimpawu ezihlukile, futhi zonke ziyivelakancane kakhulu. Ulwazi olwengeziwe kanye nethuba lokubhalisa nokubamba iqhaza “Kuphrojekthi Yocwaningo Lwe-Chromosome 6” kuyatholakala I-Chromosome6.org.
Ikusasa lika-Olivia Farnsworth
U-Olivia manje uhlala eHuddersfield City, e-UK. Unina uNikki Trepak umnakekela ngangokunokwenzeka. Yize u-Olivia engazizwa elambile, udinga ukudla. Akabuzwa ubuhlungu, kepha umzimba wakhe ungaba nobunzima, umane nje ngeke abubone. Ngokujabulisayo, unomndeni osekelayo ohlale unakekela u-Olivia wabo omncane.
Unina ka-Olivia ngaso sonke isikhathi uyaqinisekisa ukuthi u-Olivia akakweqi ukudla futhi usebenzisa amakhalori adingekayo ukuze aziphilise. Kodwa okubuhlungu wukuthi u-Olivia omncane unikezwa amaphilisi okulala njalo ebusuku ukuze akwazi ukuphumula. Ngaphezu kwalokho, bathatha ukuhlolwa kwezempilo kwamasonto onke ukubheka ukuthi akanayo yini ukulimala kwangaphakathi noma ukugula.
Balandela izeluleko zodokotela, abazali baka-Olivia bayaqhubeka nokumkhulisa njengabanye abantwana. Bayamhambisa esikoleni. Noma, phakathi kwabo bonke ubunzima, waziwa njengomfundi okhaliphile esikoleni. Muhle futhi kwezemidlalo nakwezemidlalo. Kodwa-ke, inkinga kuphela ukuthi u-Olivia uthukuthela ngokweqile lapho othile emthinta noma emlulaza. Ngemuva kwalokho uzama ukubalimaza ngokuthile noma azishaye ekhanda odongeni ngenkani.
Abazali baka-Olivia bathatha isikhathi sokubonana nodokotela abasebenza ngengqondo nodokotela bengqondo ngale nkinga, kepha abakwazanga ukwenza lutho ngayo. Ngokusho kwabo, lezi yizimpawu zezinkinga zesakhiwo se-chromosome ka-Olivia.
Kuyiqiniso ukuthi umzimba ka-Olivia unezici ezithile ezihlukile ngendlela emangalisayo ebezijabulisa abantu kusukela ekuqaleni. Kepha noma ngubani angazizwa kahle ukuthi u-Olivia nomndeni wakhe basebenzisa kanjani izinsuku ezimeni ezicindezelayo.
Ngaphezu kwalokho, odokotela abazi ukuthi bangalusingatha kanjani udaba olungajwayelekile luka-Olivia Farnsworth, noma uma lungelashwa njengoba kuyicala lokuqala eliqoshiwe emlandweni.
Ngaleso sizathu, umama wakhe uNikki Trepak nomndeni banqume ukuthi babe nekhasi lokuxhaswa ngabantu ukuze libasize baqhubeke nokuxhasa ucwaningo. Usekelwe yiqembu le-chromosome disorder support group Unique.
Ngemva kokufunda ngo-Olivia Farnsworth, funda mayelana U-Amina Ependieva - intombazane yaseChechen ehlonishwa ngenxa yobuhle bayo obungavamile, bese ufunda mayelana UNatasha Demkina: Intokazi enamehlo e-X-ray!
