My name is Fernanda Torquati from Italy, and I am the mother of a type 1 patient and aunt to a type II baby. I have more than 30 years of experience in patient advocacy, and I am the Chairman of the Italian Gaucher Association as well as one of the first founding members of the EGA now IGA. I am absolutely convinced that all together, we really can change the world and make it a better place for everybody. I strongly believe that GARDIAN will be a big step towards improving the lives of nGD families and the patients. I believe that the Registry GARDIAN will prove to be very effective not only for the families and patients who will be able to be in contact with one another, but it will lead to a treatment for the nGD. When we started back in 1991-1992 it was believed that type 1 patients were very rare throughout the world and yet a treatment was made available for these very rare patients. I expect that we will learn that there many more Type II and Type III patients than what is believed today, and this will lead to the production of a very effective treatment for these patients.
In thirty years of hard work, I have met many type II families. They would phone me and ask me to go visit them, see their child. I did and each child was so beautiful and unique. I would like to reach out to all the type II families in Italy and ask them to join in the GARDIAN Registry; it didn’t help your children but could help so many other children waiting for a treatment. I also believe it is important for the families to be able to share what they are feeling and how they are dealing with their children. Together with Laura Pastore, mother of a type III patient and CHAMPION GARDIAN for Italy, I hope to be able to offer support and understanding to Italian families dealing with such a devastating disease.