In Brazil, a long history of fragile X testing, but too few with access to treatment

Dorsey Griffith.

Early in the morning on Oct. 5 I road a bus to Florinapolis with my friend Dr. Ingrid Barbato, whose laboratory has done testing for FXS and premutation disorders for over 25 years. Ingrid organized a conference of over 500 people, including families and professionals in beautiful Florinapolis, an island surrounded by white sand beaches and connected to the mainland in Southern Brazil by two bridges.

Ingrid and her many volunteer helpers have carried out numerous educational programs in Santa Catarina, her state in Brazil, and it shows with many professionals there who are very knowledgeable about FXS and associated disorders.

Wonderful dinner with Ingrid and her family.


It was a pleasure to see how Ingrid’s family has grown since she spent a sabbatical with us at the MIND in 2005. Her children are grown, and her daughter Marianna now has two beautiful children, while carrying out a busy practice as a dermatologist. Ingrid’s son Jorge is now a successful investment manager with his own company. Ingrid’s husband Barbato, a neurologist, sees many patients with FXS and is very supportive of Ingrid’s work. Ingrid is the heart and soul of FXS in Brazil because without her support for the families and the DNA testing of her laboratory over many years there would be no knowledge of FX in Brazil. I returned home invigorated by the energy of Ingrid and her family of supporters to help the families affected by fragile X.