My Story

In 2011, when I was only 13 years old, during an appointment with a Brazilian doctor, who was traveling to Brazil but living in the United States, alerted my parents about the Wolfram Syndrome and my possible connections with the disease. That is when they began to research and take me to different doctors in São Paulo, but they were not successful, because the disease was still unknown to Brazilians. So, in the same year, they had a genetic test done. This exam collects the genetic material from the parents and the child to assess whether they have mutations in the WFS1 or WFS2 gene, confirming the disease along with the symptoms. With a positive diagnosis, but without much information, treatment, medication or cure, my parents went on to talk to a researcher in the city of St. Louis who was at the beginning of a clinical trial with Wolfram Syndrome. However, they did not come out very hopeful. The researcher told them the study would probably not have any result before 10 years. Unfortunately, doctor Permute passed away. Afterwards, doctor Fumihiko Urano assumed his position.

By the end of 2015, my parents and my doctors finally thought I was mature enough to deal with the difficult news and found the right time to tell me about Wolfram Syndrome. Since then, new challenges, many decisions and difficult times have been presented to me. But now, I can say that I have full knowledge, control and information about myself and I can meet other patients who have been in a similar journey.