Live hiki ole make: ka moʻolelo Charli Garda

Kehaulani Gard - he keiki, mai ka UK, a ua o Laielohelohe lahui noonoo a me kona maʻi ona maʻi. ¶ Hele na makua e ho'āʻo ana e imi i kekahi mana lapaʻau, me ka manao i ka mea hiki ke kōkua kā lākou keiki lanakila i ke nānā maʻi - "ka depletion o DNA," i mea i hookuu i ke kumu o ka make no na kamalii uuku i loko o ka mea mua mau mahina o ko lākou mau ola. Akā, i ke kumu i kēia maʻi, a no ke aha la ka ia ia oe e pepehi i ke kino o na kamalii uuku?

keiki o kaʻike,

Kehaulani Ua hānauʻia maʻAukake 4 hope makahiki, akā, mai October, koe hospitalized i loko o ka London haukapila, Nui Ormond Street. Ua Ua ike ia 11-malama-kahiko keiki hiki ole hanu ma luna o lākou iho, hiki i lohe a hiki ole ike, a me kekahi poino, mai ke kāʻili 'ana. I nā mākua makemake e hele pū me ia i kaʻAmelika Hui Pūʻia, e ho'āla ai i kekahi mana lapaʻau, akā, i ke keiki ka kauka i kū'ē'ē ai. Ka mea, koi i e ole hoola i ka lapaau i ke keiki, a e hooloihi wale i kona pōpilikia. Ka poe akamai i, i kēia manawa a pau i ike Kehaulani, e olelo aku nei: o ka loa humane, i ka mea hiki ke hana - mea, e hoohuli aku i ke ola-kākoʻo machines.

Kehaulani ka hihia laila, hoopaapaa ma luna o nā kuleana o nā mākua, e koho iapaau ana no kā lākou mau keiki. Pelekāne pā hale e noho ana ma kaʻaoʻao o ka haukapila, a me ka hopena i Kehaulani i ia e disconnected mai ka nakeke no ka 30 o June. Eia naʻe, na makua i noi kauka e ka hailonaʻana i kēia kaʻina hana, e loaʻa hou manawa e olelo aku a hui hou i ke keiki.

Pehea i DNA depletion

Entsefalomiopatichesky mitochondrial DNA depletion maʻi pale, waiho wale aku no ia e ke keiki, ua kena ae la ia e mutations i loko o nā'ōewe e kōkua malama DNA i loaʻa i loko o ka mitochondria (ke kelepona hele "mana kanu"), a he kuleana no ka hoʻololi 'ana i nā māhuaola i ikehu, e like me kona i iho o kekahi DNA.

Ma ka hihia o Kehaulani mutation hoʻoweliweli ma ka'ōewe kapaia RRM2B. He mea i loko o ka hanaia'na o ka mitochondrial DNA mahele. Ke mutation ke kumu o ka emi ana o ka nui o mitochondrial DNA, a aole i ae hana maʻamau mitochondria.

Keia ano e loli ai i ka hana ana o na mea he nui nā loko, ka oi aku o ka lolo, nāʻiʻo a me nā konāhuaʻelua, a i kiʻekiʻe ikehu pono ai. E like me ka hopena o ka maʻi pale hele aku ai i Muscle nawaliwali, microcephaly (hoemi i ka nui o ke poo o ke keiki), hakuʻala pilikia, ke kāʻili 'ana a me ka lohe me keia poho. Nawaliwali o na nāʻiʻo komo i loko o ka hanu kaʻina hana, hiki e he nui pilikia, i ka mea hiki ia Kehaulani. Ano, ke keiki hiki ole hanu ma luna o lākou iho.

Life expectancy a me ka haawi aku i loko o ke ao nei

Kēia maʻi pale He loa pohihihi keia: mua Kehaulani Uaʻike wale nō ma kahi o 15 mau keiki, mai a puni ka honua, ka poe i ka iaʻike, a me ua keiki.

Symptoms o ka maʻi hoʻomaka e hōʻike kakahiaka nui iho la ia. Ma ka hihia o Kehaulani, no kekahi laʻana, hoomaka ae la lakou e hōʻike i ka wa a ke keiki i wale he mau pule. Nō hoʻi, na keiki e ae aku i keia kulana ana eʻaʻole hiki ke olaʻuʻuku mai. E like me ke ana i loko o ka makahiki 2008, ehiku keiki a me ka mea ia maʻi pale me Kehaulani, make iho la, a hiki mua ka mea, hiki i ka makahiki o 4 mahina.

Eia naʻe, i kēia maʻi maʻi pale. Ka mea wale nō mea e hiki e kauka - mea e i kākoʻo no ka lako a me ka hoʻohana 'ana i ka peahi, e kōkua me ka hanu.

E au manaolana no i kekahi mana lapaʻau

Kehaulani mau makua makemake, e ho'āʻo i kekahi mana lapaʻau ma luna o kāna keiki - nucleoside Inc i ka DNA mea i ole e i hiki o kona keena. I ka laulā o kēia hana i koe ia e hookupaa iho la ia, naʻe mua aku ka mea i hoʻohana no ka hoʻomanawanui iki mai ka poe i loaa ia mai ka emi loa ano o ka mai, i ike like TK2 mutation. Naʻe, i ka Inc i loa ua hoʻohana no nā mea maʻi i mutations RRM2B. O ke kauka i mua ua makaukau, e kōkua i ka Garda me ka mana lapaʻau, a ma hope i hoʻoikaika i ka ae aku i keia Inc mea olelo lealea, e hoola Kehaulani, e like me ke keiki i loko o ka kuʻina ma hope o ka maʻi.

Nei, ua manaoia laʻelaʻe 'ia o nā keiki ka Halemai Moiwahine ma Italy, e neʻe Kehaulani iā ia, e hoʻolako i ka pono malama no ia ia, akā, London Haukapila kauka hōʻole i hana ai, Kuhikuhi' ia loio i kumu. Boris Johnson, i mea na Kuhina o ko na Aina e no Beritania Nui, i mai la i "keia olelo hooholo ka pahuhopu nei me ke akamai 'inikua manao, kākoʻoʻia nā pā hale", a lalau iho la ia i loko o iniiaiie noonoo i ka pono o ke keiki.