Namuhla uMeyi 30 uyagujwa Usuku Lomhlaba Wonke luka-Prader Willi Syndrome. Inhloso yawo ukukhumbula lolu suku kubo bonke labo abaphethwe yilesi sifo esingajwayelekile nokuthi kwabikezelwa ngo-1956 ngodokotela abangochwepheshe.
Lesi sifo sidalwa yisifo sofuzo esidalwa yi inkinga eyenzeka ku-chromosome 15. Izimpawu zayo zivela kwazise izingane ziyizingane, ezinezimpawu zokungahambi kahle kwemisipha nokukhala okuntekenteke. Kunezinye izimpawu eziningi futhi nezingane ezineminyaka engaphezu kwengu-2 ziqala ukwethula ezinye ezisezingeni eliphakeme.
Uthuthuka kanjani uPrader Willi ezinganeni
Lesi sifo sesivele siqala ukukhombisa izimpawu zaso zokuqala ezinganeni ezisencane kakhulu, kusukela lapho sizalwa. Izingane zinemisipha engeyinhle, kuzobonwa emadolweni nasezindololwaneni lapho bezophumula khona sengathi abanamandla. Lapho bephendula bane- umthamo wokuphendula kancane, ngathi ukhathele kakhulu. Ngisho ukukhala kwengane kubuthakathaka kakhulu.
Ngenxa yethoni yabo yemisipha ebuthakathaka, izingane zine reflex ompofu omuncu, ngakho-ke ukuncela okuhamba kancane noma okubuthakathaka kungadala ukuntuleka kokondla nokwehluleka ekukhuleni kwayo. Izici zobuso zibaluleke kakhulu: amehlo amile okwe-alimondi, umlomo uthambekele phansi, udebe olungaphezulu luzacile, futhi amathempeli ancishisiwe ekhanda. Zombili izitho zangasese zabafana namantombazane azithuthuki kahle. Umthondo wamasende namasende wabafana, nengquza yamantombazane namalabi kuncane kunokujwayelekile.
Isithombe sithathwe ku-Yucatan
Uthuthuka kanjani uPrader Willi ezinganeni ezisukela eminyakeni emibili kuya kwengu-2
Yize izimpawu zazo zivela lapho zisezinsana, zingahlala isikhathi eside kukho konke ukukhula kwakho kanye nenqubekela phambili empilweni yakho yonke. Izingane ezineminyaka emibili ziqala ukuba nenkanuko eyeqile yokudla, zifinyelela ku inzuzo enkulu esheshayo.
Ukuthuthuka nokukhula kwayo kuncane. Banesiqu esifushane, isisindo esincane semisipha, namafutha omzimba aphezulu. Konke kususelwe ku- izinkinga ze-endocrine noma ukushoda kwe-hormonal, kufaka phakathi i-hypothyroidism, lapho umzimba ungaphenduli ngokwanele ezimweni zokuxineka noma izifo.
Banenkinga yokukhuluma, selokhu ukuvela kwayo kubambezelekile. Yethula izinkinga zokuziphatha ngokomzwelo nokulawulwa okuncane. Bangase babe nokuziphatha okuphoqelela ngokweqile, ukuthukuthela, ukungathandi ushintsho esimisweni, futhi bathambekele ekubeni nakho ukuphazamiseka kwengqondo.
Phakathi kokubukeka kwabo ngokomzimba kuvela izandla noma izinyawo ezincane kakhulu i-scoliosis noma ukugobeka okungavamile komgogodla, izinkinga zomgogodla, izinkinga zokubona, isikhumba esiphaphathekile kanye ne- izitho zocansi ezingathuthukiles. Ngisho nabesifazane kungenzeka bangalokothi baye esikhathini futhi amadoda angahlakulela ukuthomba okulibazisekile noma engekho.
Ukwelashwa kwe-Prader Willi Syndrome
Ukutholakala kwalesi sifo esingajwayelekile kusekelwe ekuhlolweni kwamangqamuzana, okungenzeka kube ukuxilongwa kusenesikhathi ukuze kulandelwe noma ukwelashwa kwenziwe ngaphakathi kwalokho okungasetshenziswa. I-Prader Willi syndrome ayinalo ikhambi futhi kufanele uqondise uchungechunge lwamaphethini ukuze umuntu ahole impilo engcono. Phakathi kwezeluleko zakhe ukugqoka i- ukugadwa njalo ukulawula isisindo nokukhuluphala. Ukunikezwa kwe-calcium nevithamini D kanye nokuphathwa kwezindlela zokwelashwa kwamahomoni.
Kuzofanele sakhe uchungechunge lwemikhuba, imithetho, izinkambiso nemikhawulo okufanele inxeshezelwe ngemiklomelo emihle engahlobene nokudla. Kodwa-ke, ukwesekwa ngokwengqondo nangokwengqondo kuzohlala kukhona ngenxa yabo izinkinga zokuzilawula kokuziphatha, ingcindezi kanye nokuzethemba okuphansi.
Abantu abahlushwa yiyo futhi ikakhulukazi izingane kumele zilandelele futhi zisekele ngumuntu omdala, ngoba ukuvikelwa nobuqotho bezenhlalo bengane nomphakathi kuyadingeka. Ungafunda enye yezindatshana zethu lapho sinikela khona ifomu le- ukugqugquzela ukufakwa kwezingane abahlushwa ukukhuluphala kwengane.