\u201cOns is vinnig om weg te draai van dinge en mense wat anders as ons is \u2013 dit is instink, en te verstane, maar iets waaroor ons moet nadink, en waarteen ons moet baklei.\u201d<\/p>\n\n\n\n
S\u00f3 verduidelik dr. Marianne Gush, \u2019n n\u00e1-doktorale genoot en kwalitatiewe navorser vir die groep Seldsame-siekte-genomika aan die Universiteit Stellenbosch (US).<\/p>\n\n\n\n
Die werk wat Gush en die span navorsers doen, poog om meer antwoorde te bied aan diegene wat aan \u2019n seldsame siekte ly. Vandeesmaand is Seldsame Siekte-maand wat, soos die navorsingsgroep, meer inligting en bewusmaking wil skep.<\/p>\n\n\n\n
Gush verduidelik wat presies \u2019n seldsame siekte is: \u201cDit is siektes wat op die meeste een uit elke 2 000 mense raak, maar party van hierdie siektes kom in een in 100 000 of in een in \u2019n miljoen voor. Hoewel hierdie siektes seldsaam is, bestaan tussen 8 000 en 10 000 verskillende soorte seldsame siektes, wat beteken dat \u2019n beduidende hoeveelheid mense aan skaars siektes ly \u2013 ongeveer 4,2 miljoen mense in Suid-Afrika.\u201d<\/p>\n\n\n\n
Die navorsingsgroep staan onder leiding van prof. Sh?ahida Moosa, wat ook die hoof van mediese genetika by die Tygerberg-hospitaal is. Die groep werk met pasi\u00ebnte wat verskeie toestande het. Mabry-sindroom, Kabuki-sindroom, lupus nefrities en bloedverwante siektes is net van die siektes wat hulle bestudeer. Meer inligting oor skaars siektes kan beter behandeling en ondersteuning beteken.<\/p>\n\n\n\n
Gush verduidelik \u2019n diagnose bied verligting omdat dit lig werp in gevalle waar daar eers donkerte en onsekerheid was. Dit kan ook lewens red. \u201cEen van ons MSc-studente het verlede jaar \u2019n diagnose gedoen wat ons mediese span bewus gemaak het van die risiko van \u2019n spesifieke soort kwaadaardige gewas. As gevolg van haar vroe\u00eb diagnose en die daaropvolgende ondersoek en behandeling is daardie pasi\u00ebnt vandag kankervry.<\/p>\n\n\n\n
\u201cDiagnoses red inderdaad lewens en as ek dus gevra word wat heel boaan my wenslysie is, dan is dit dat die staat genetiese toetsing beskikbaar moet maak om vir die duisende pasi\u00ebnte in die \u2018Undiagnosed Disease Programme\u2019 antwoorde en beter uitkomste te bied,\u201d verduidelik Gush.<\/p>\n\n\n\n
Sy s\u00ea die grootste struikelblokke bly egter om enigsins \u2019n diagnose te kry. Dit neem byna vyf jaar vir inwoners van ho\u00eb-inkomste-lande om \u2019n diagnose van \u2019n seldsame siekte te kry. Dit is daarom geen verrassing nie dat die meeste mense met seldsame siektes in Suid-Afrika, met sy kreunende openbare gesondheidsektor, nooit gediagnoseer word nie. \u201cVir diegene wat vir mediese sorg van die staat afhanklik is, is genetiese toetsing slegs in drie van ons nege provinsies beskikbaar \u2013 en dan ook net met behulp van tersi\u00eare hospitale waar navorsingsgeld help om die kostes te dek.<\/p>\n\n\n\n
\u201cBuiten die toegang tot \u2019n diagnose, wat natuurlik emosionele en gesondheidsgevolge inhou, ly mense met seldsame siektes dikwels onder \u2019n stigma en sukkel hulle om deur gesondheidsorg\u00adwerkers ernstig opgeneem te word.\u201d<\/p>\n\n\n\n
Gush verduidelik aangesien simptome nie altyd sinvol is of \u2019n duidelike patroon aandui nie, is dit eers wanneer \u2019n diagnose van \u2019n genetiese of seldsame toestand gedoen word, dat gefokusde behandeling en ondersteuning gebied kan word. Sy voeg by 70% van hierdie siektes word deur \u2019n pediater opgemerk. <\/p>\n\n\n\n
\u201cDie meeste van hierdie kindertjies het kroniese en aftakelende siektes wat dikwels permanente versorging benodig. Dit lei dus daartoe dat minstens een ouer of versorger sy werk moet verlaat om na die kleintjie om te sien. Dit het natuurlik \u2019n enorme finansi\u00eble impak.\u201d<\/p>\n\n\n\n
Sy voeg by in sommige gevalle word ouers van mishandeling aangekla weens hul kleintjie se simptome. \u201cDit sluit siektes soos epidermolysis bullosa (EB) en osteogenesis imperfecta (OI) in. In die geval van EB laat die velsiekte dit lyk of die kind gebrand het, en in die geval van OI breek die kind se beentjies so maklik dat dit dokters dadelik onraad laat vermoed.\u201d<\/p>\n\n\n\n
Gush s\u00ea die kollektiewe \u201crare siektes\u201d is meer algemeen as wat dit lyk en daar is derduisende siektes waarvan hulle miskien nog nooit gehoor het nie. \u201cNet omdat jy dit nie ken of nie verstaan nie, maak dit nie verkeerd of minder van \u2019n werklikheid nie. Kom ons werk saam, as \u2019n samelewing, om mekaar te ondersteun deur positiewe woorde en helpende hande, waar ons kan.\u201d <\/p>\n","protected":false},"excerpt":{"rendered":"
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