Olivia Farnsworth, msungwana wokongola yemwe adadodometsa azachipatala atazindikira kuti ali ndi vuto lachilendo la chromosome lomwe silinamve za njala, kutopa kapena zowawa pamoyo wake kwamuyaya. Ndi matenda “osowa kuposa osowa”.
Msungwana wa 'bionic' Olivia Farnsworth
Msungwana waku UK Olivia akukhulupirira kuti ndiye yekhayo padziko lapansi amene angawonetse zizindikiro zitatuzi limodzi. Ndizachilendo komanso zozizwitsa nthawi yomweyo.
Matenda achilendo amamulola kuti apite masiku asanu mpaka asanu ndi limodzi osagona ndi kudyetsa. Moyo wake ndi wolungama zachilendo mosaneneka atazunguliridwa ndi chinsinsi cha sayansi chosadziwika. Kunena zoona, Olivia ali ndi luso lachilendo laumunthu lomwe limakopa mamiliyoni a anthu kuti adziwe nkhani yake yosangalatsa.
Ngakhale kuti vuto la Olivia wachichepere limafotokozedwa ngati "kufufutidwa kwa chromosome 6", kusakanikirana kwa maluso apamwamba-amunthu mwanjira yotere sikunachitikepo m'mbuyomu. Madokotala ena mpaka amamuyitana kuti "msungwana wamisala" yemwe amapangidwa ndi chitsulo ndipo alibe chidziwitso chowopsa.
Momwe zizindikilo za matenda osowa kwambiriwa zidayamba kuwonekera m'moyo wa Olivia
Mu 2016, Olivia ali ndi zaka 7 zokha, nthawi ina adatuluka ndi amayi ake ndikuthamangitsidwa. Pambuyo pake, anagundidwa ndi galimoto ndipo inakokera pafupifupi mamita 100 kutsika msewu. Ngozi yoopsa ija itachitika, anangonyamuka n’kuyamba kuyenda kubwerera kwa mayi ake. Adangoti, "chikuchitika ndi chiyani?"
Chifukwa chakukhudzidwa, amayenera kuti adavulala kwambiri. Anali ndi cholembera pachifuwa pake. Koma kuvulala kwake kokha anali wopanda khungu pachala chake chakumapazi ndi mchiuno.
Komanso, nthawi ina adagwa moyipa ndikung'amba pakamwa ndipo sananene chilichonse kwa makolo ake. Pambuyo pake, adayenera kuchitidwa opaleshoni yayikulu yapulasitiki kuti awongolere.
Kodi chromosome disorder ndi chiyani?
Vuto la chromosome kapena vuto la chromosome ndi gawo losowa, lowonjezera, kapena losakhazikika la chromosomal DNA. Anthu omwe ali ndi vuto la chromosome amadwala matenda osiyanasiyana komanso olumala - vuto limodzi lodziwika bwino ndi Down's Syndrome lomwe ndi vuto la chibadwa la chromosome 21 lomwe limayambitsa kuchedwa kwa chitukuko ndi luntha. Koma nkhani ya Bionic Girl Olivia ndiyodabwitsa kwambiri komanso yosangalatsa kwambiri kudabwitsa aliyense.
Matenda ochotsa chromosomal: Ndi chiyani? Ndipo zimakhudza bwanji munthu?
Mkati mwa gawo lathu lamaselo athu ali ndi tinthu tating'onoting'ono tomwe timayang'anira kugwira ntchito ndi kubereka kwa khungu lililonse mthupi lathu, kutipatsa mphamvu yakukhala ndi moyo. Ma chromosome amapangidwa ndi mamolekyulu awiri akulu kapena zingwe za deoxyribonucleic acid (DNA), makamaka, zingwe izi zimatchedwa majini, omwe amapereka malangizo olamulira momwe selo imagwirira ntchito komanso kubereka. Kunena, majini amalamulira chilichonse kuti tikhale ndi moyo.
Maselo aumunthu ali ndi ma chromosomes 23 (peyala imodzi ya "ma chromosomes ogonana" omwe amawonetsa amuna kapena akazi ndi ma 22 awiriawiri a "autosomes" omwe ali ndi zidziwitso zonse zobadwa nazo), ndikupereka okwanira 46 pa khungu. Chifukwa chake, nthawi zambiri timakhala ndi mitundu 23 yama chromosomes ndipo timakhala ndi ma chromosome athu aliwonse.
Chromosomal deletion syndromes amachokera pakuchotsa pang'ono kapena kwathunthu kwa awiriawiri kapena angapo amtundu wa chromosome. Komabe, ma syndromes of chromosomal deletion nthawi zambiri amawonetsa kuchotsedwa kokulirapo kapena kufufutidwa kwathunthu komwe kumawonekera pogwiritsa ntchito kujambula njira. Ngakhale, kutayika kwina kwa mtundu wa jini-ntchito kumawerengedwanso kuti ndi gawo la kufufutidwa kwa Chromosome, popeza kukhala kocheperako kapena kotchedwa 'Chromosomal Microdeletion-syndrome'.
Pali matenda mazana ambiri ndi zolemala zomwe zimalumikizidwa ndi kuchotsedwa kwa chromosome kamodzi kapena kutayika kwa majini-ntchito. Zitsanzo zina za ma syndromes awa atchulidwa pansipa:
- Chromosome 5-Kuchotsa zomwe zimayambitsa matenda a cri du chat, matenda a Parkinson, ndi zina zambiri.
- Chromosome 4-Kuchotsa zomwe zimayambitsa matenda a Wolf-Hirschhorn, khansa ya chikhodzodzo, Matenda a m'magazi a lymphocytic, ndi zina zambiri.
- Matenda a Prader – Willi - kwenikweni, vutoli la chibadwa limapezeka chifukwa cha kutayika kwa jini-ntchito, m'malo mwa kuchotsedwa kwa chromosome. Mwa ana ongobadwa kumene, zizindikiro zake ndi monga minofu yofooka, kusadya bwino, ndi kusakula bwino.
- Chithandizo cha Angelman (AS) - ndi matenda a chibadwa omwe amakhudza kwambiri dongosolo lamanjenje. Zizindikiro zimaphatikizapo mutu waung'ono ndi maonekedwe enieni a nkhope, kulumala kwakukulu kwaluntha, kulemala kwachitukuko, vuto la kulankhula, kusamvana ndi kusayenda bwino, kugwidwa, ndi kugona. Zimachitikanso chifukwa cha ntchito-kutayika kwa majini enaake.
Chromosome 6 kuchotsedwa kwa Olivia Farnsworth
Pankhani ya Olivia Farnsworth, khromozomu 6 sizichokeratu zomwe nthawi zambiri zimaphatikiza ma peyala opitilira 170 miliyoni (zopangira za DNA) ndikuimira pakati pa 5.5 ndi 6% ya DNA yonse m'maselo. Lili ndi Kuyanjana Kwakukulu Kwambiri, yomwe imakhala ndi majini opitilira 100 okhudzana ndi chitetezo cha mthupi, mayankho ena amthupi komanso ntchito zosiyanasiyana zovuta. Kuchotsedwa kwa chromosomal kotereku sikunachitikepo m'mbuyomu, ndipo ofufuzawa akupezabe kuti adayamba bwanji matenda achilendo komanso achilendo chonchi!
Komabe, pali kusintha kosiyanasiyana kwa ma chromosome 6 kotheka, kulikonse kumakhala ndi zizindikiro zosiyanasiyana, ndipo zonse ndizosowa kwambiri. Zambiri komanso kuthekera kolembetsa ndi kutenga nawo gawo mu "Chromosome 6 Research Project" zilipo Chromosome6.org.
Tsogolo la Olivia Farnsworth
Olivia tsopano amakhala ku Huddersfield City, UK. Amayi ake a Nikki Trepak amamusamalira momwe angathere. Ngakhale Olivia samva njala, amafunika kudya. Samva kuwawa, koma thupi lake limatha kuvutika, kungoti sangazindikire. Mwamwayi, ali ndi banja lochirikiza lomwe limasamalira mwana wawo wamng'ono Olivia.
Amayi a Olivia nthawi zonse amaonetsetsa kuti Olivia sadya chakudya ndikudya zakudya zofunikira kuti akhale wathanzi. Koma chomvetsa chisoni ndichakuti Olivia wamng'ono amapatsidwa mankhwala ogona usiku uliwonse kuti athe kupumula. Kuphatikiza apo, amatenga mayeso mlungu uliwonse kuchipatala kuti aone ngati alibe kuvulala kwamkati kapena matenda.
Potsatira malangizo a madotolo, makolo a Olivia akupitiliza kumulera ngati ana ena. Amutumiza kusukulu. Ngakhale, pamavuto onse, amadziwika kuti ndi wophunzira wakhama pasukulu. Amachitanso bwino pamasewera komanso masewera. Komabe, vuto lokhalo ndiloti Olivia amakwiya kwambiri pamene wina amukankha kapena kumunyoza. Kenako amayesetsa kuwavulaza ndi china chake kapena kumenyetsa mutu wake pakhoma mokakamiza.
Makolo a Olivia adapangana ndi akatswiri angapo amisala ndi akatswiri amisala pamavuto awa, koma samatha kuchita chilichonse. Malinga ndi iwo, izi ndi zizindikiro za zovuta zamapangidwe a chromosome ya Olivia.
Ndizowona kuti thupi la Olivia lili ndi mawonekedwe ena apadera omwe akhala akusangalatsa anthu kuyambira pachiyambi. Koma aliyense akhoza kumvetsetsa momwe Olivia ndi banja lake amathera masiku ovuta.
Kuphatikiza apo, asing'anga sakudziwa momwe angachitire ndi vuto lachilendo la Olivia Farnsworth, kapena ngati atha kuchiritsidwa chifukwa ndi mlandu woyamba kulembedwa m'mbiri.
Pachifukwachi, amayi ake a Nikki Trepak ndi banjali asankha kukhala ndi tsamba lodzaza ndi anthu kuti liwathandize kupitiliza kupereka kafukufukuyu. Amathandizidwa ndi gulu lothandizira matenda a chromosome lapadera.
Pambuyo powerenga za Olivia Farnsworth, werengani za Amina Ependieva - mtsikana wa ku Chechen amene amasilira chifukwa cha kukongola kwake kwachilendo. ndiye werengani za Natasha Demkina: Mayi yemwe ali ndi maso a X-ray!
