mutations

NEVAEH - TGFBR2 MUTATIONS (LDS2)

When Sandra’s grand-daughter, Nevaeh, was born in 2006 she had an inclination that there was more going on, other than what the doctors described as ‘typical clubbed feet’.  Sandra repeatedly noted the little one’s long slender fingers, hyper-extensible joints, low muscle tone, mild craniofacial features and pectus excavatum.  Along with the waving of research documents that she’d whip out of her hand-bag, Sandra finally managed to initiate a referral to a geneticist.  Could it be Marfan, Beals, or Ehlers-Danlos syndrome?  

Two years later, in 2010 Nevaeh was diagnosed with Loeys-Dietz syndrome (TGFBR2 mutation) and in Nevaeh’s case her mutation is random with no familial link.

Sandra Topper is an ex-member of the Board of Directors for GADA Canada. She was one of the original co-founding members of the Loeys-Dietz Syndrome Foundation of Canada and remains dedicated to fostering awareness and being a supportive advocate to several members of the LDS community in Canada.