Lokhu ngoNovemba 17, Usuku Lomhlaba Wonke lukaSmith Magenis Syndrome. Lesi yisifo esingajwayelekile esikhonjwe ekuqaleni kweminyaka yama-80 ngu-Ana Smith no-Ellen Magenis, yingakho sibizwa kanjalo. Le syndrome iqukethe iqoqo lezimpawu, izici zomzimba nezokuziphatha zobukhulu obuhlukahlukene, kanye nochungechunge lwezinkinga zokuzalwa.
Kwakhe izimpawu, izici, nentuthuko yocwaningo olwenziwe kule ndatshana ixoxa, lapho futhi sifuna ukwethula kini iSpanish Smith Syndrome -Magenis Association, inhlangano engenzi nzuzo esiza abantulayo.
Izimbangela nezimpawu zesifo sikaSmith Magenis
Kucacisiwe cishe, iSmith Magenis syndrome, nge-SMS yayo efingqiwe, ukungajwayelekile kofuzo okubangelwa ukususwa kwe-chromosome 17. Kuyinto a isifo sofuzo, kepha ngokuvamile asizuzwa njengefa, njengoba kukhiqizwa ushintsho olusha lofuzo olwenzeka ngesikhathi kwakhiwa iqanda noma isidoda. Ngalesi sizathu, iningi leziguli ezithintekile alinawo umlando womndeni.
Ukulinganiselwa ukuthi iSmith Magenis syndrome ivela koku-1 kokuzalwa okungama-25000, yize imithombo yakamuva isungula ukwanda 1 njalo ukulethwa kwe-15000. Ingozi yokuphindeka ekukhulelweni okusha kwalaba abashadikazi ifinyelela kumaphesenti angamashumi amahlanu.
Izimpawu zibambezelekile ukukhula kwengqondo kanye nolimi, ngokulahlekelwa ingxenye yokuzwa. Ukungafani kogebhezi nobuso kuyisici futhi kwesinye isikhathi kwenzeka eminweni nasemgogodleni, ne-scoliosis, brachydactyly, ne-polydactyly. Ukukhubazeka kwezinye izitho kuvamile, ikakhulukazi inhliziyo, renal kanye ne-central system ye-anomalies. Kuvamile ukuthi izingane ezine-SMS zibe nokuphazamiseka kokuziphatha nokuphazamiseka kwesigqi sokulala, kube nokulala okuncane emini nokuvuka kaningi ebusuku.
Ukwelashwa nocwaningo lwamuva
Njengakwezinye izifo, ngeshwa akukho ukwelashwa okwelaphayo yezingane ezine-Smith Magenis syndrome. Ukuxilongwa kusenesikhathi kubalulekile, ikakhulukazi emindenini, njengoba ivumela ukuthi zifunde ngalesi sifo futhi zilungiselele izinselelo ezizayo. Izindlela zokwelapha zisekelwe ekulawuleni izimpawu, izinyathelo ze-physiotherapeutic nokusekelwa kwengqondo.
Njengoba siqoqe eSmith Magenis Syndrome Spanish Association, umkhiqizo wesayensi wezifo ezingandile eSpain nakulesi sifo ikakhulukazi uyindlala noma awunalutho. Obunye bobunzima abahlangane nabo ngabaphenyi ukungabikhona kweziguli, ulwazi oluncane kanye nentshisekelo yodokotela nabasebenzi bezengqondo kuleso sifo nasekusakazekeni kwendawo. Ngo-2020, isimo esidalwe yi Covid-19 ibe nokuthuthuka okuqhubekayo okuyinkimbinkimbi kolunye uphenyo olungahlobene nalolu bhubhane.
EFrance nakwamanye amazwe angomakhelwane, ngaphezu kwe-United States, yebo kuyenziwa uphenyo, ikakhulukazi ehlobene nezici zokuziphatha nokulala ezigulini ezine-SMS.
Inhlangano yaseSpain yeSmith-Magenis Syndrome, i-ASME
Einhloso yakhe yokuqala yenhlangano ukwenza ngcono impilo labantu abane-Smith Magenis syndrome. Le nhlangano ikhuthaza zonke izinhlobo zezinhlelo ezinomthelela ekusabalaliseni nasekuphenyweni kwalesi sifo. Namuhla, amabhasi asemadolobheni eSan Sebastián aphethe uphawu olukhuluma ngalesi sifo.
Ngewebhusayithi a ithuluzi eliqondisayo lemindeni, odokotela, othisha, nabanye ochwepheshe. Kuyo kunencazelo ebanzi neningiliziwe yesifo, sezigaba izingane ezihamba kuzo, kusukela ezinganeni kuya kwezintsha. Kukhona futhi izinto zokucwaninga kanye neziphakamiso zomsebenzi ezingalandwa.