Combined Cobalamin Defect

The story of Sofia

I was Diagnosed with Combined Cobalamin Defect when I was 8 years old and have been a Non Paid Patient Human Research
Subject for Children’s Hospital Camperdown /Westmead and Westmead Adult hospital since under Bridget Wilcken and the Yale University team GPS DRS Nancy and Robert Griffiths and Shannon Craft. As I live in Canberra I have found Services and Support
for Rare Conditions such as Mine Severely Lacking over the years to this current day.