Lourenço was born in 2012; a beautiful, strong boy, born of natural childbirth, in the water. He was a smart, sweet, cheerful baby. At 6 months of age, after he was hospitalized at Itaci, we received the news that our son probably had mucopolysaccharidosis – a hereditary metabolic disease that can affect sight, hearing, mental and bone development, among others. We were referred to the genetics department at USP, the Children’s Institute, and were seen by Dr. Chong and Dr. José Francisco da Silva, who collected the necessary genetic material. After three months, the diagnosis was confirmed. In spite of that, Lourenço was lucky; he had a very good hematologist, who made an accurate diagnosis, and an efficient genetics team. Even more importantly, he was born at the right time and into a family willing to move mountains for him. That’s why his story does not end here.
There are 7 types of mucopolysaccharidosis; Lourenço has type 7 (Sly syndrome). There is still no medication available in the world, but it in development and already in the testing phase.
How was Lourenço included in the tests? We did lot of research on the mutation. At http://www.ncbi.nlm.nih.gov/pubmed, we could find every piece of research done in the past, each study that was ever conducted At one point, we began to write down the names of researchers and found that the researcher who discovered the genetic mutation – Dr. Williams Sly – was still active. We found his contact and his team’s online with the help of CASA HUNTER and wrote to all of them. The team indicated the pharmaceutical company responsible for the medication in testing phase. From there, we could begin a conversation with the pharmaceutical company.
This whole process took almost three years. When the pharmaceutical company began Phase 4 of the tests – tests with children under 5, Lourenço was included. In August 2015, Lourenço moved to the United States to participate in the trial. They counted on the support of CASA HUNTER in this transition, and still do. He is being successfully medicated. With the early intervention, Lourenço did not develop the disease’s characteristic anomalies. The trial will last until the end of August, and the company will continue to provide medication to the family after they return to Brazil and throughout their lives, as per the rules of Brazilian law.