MPS II patient - São Paulo / SP
When I realized how severe the disease was, I sought treatment to understand the syndrome and to have a closer follow-up. When the diagnosis was confirmed, I did not panic, but I am young; I want to have normal and healthy life, with treatment. Meeting with the CASA HUNTER was precisely due to a mismatch. I went to an appointment with the geneticist, and there I saw professionals with the CASA HUNTER jacket. My cousins also knew about it and we decided to go there. On the first day, I remember quite well, it was October 1, 2014, I went there with Marcelo. That was my first contact with Tony. As the saying goes, the first impression is the one that counts: a super welcoming, nice guy... I had never even heard of him, and as soon as I met him, I had the feeling that I had known him from before. There, I began my friendship with him and all the people of CASA HUNTER. From that moment, we talked and Tony was outraged that none of us in the family were doing TRE treatment. He started making the arrangements himself, and from then on, things happened very fast. Tony was eager to help, to no personal advantage, just thinking about others’ well-being. He knows the syndrome well - his child is a patient - and is very humane. If it were not for CASA HUNTER, I would not be doing therapy right now. Because of the treatment, I felt better, and it even improved my personal life. My wife is pregnant, and now I need to take better care of myself. We need to continue fostering studies, seeking solutions, because all MPS patients hope that this will end. I want to see my son grow up, be a good father. And enzyme replacement is all I can do, to be able to provide quality of life for my family.
Leandro Gomes Ferreira
MPS II Patient - São Paulo
Before arriving at CASA HUNTER, I went through some treatments that were not working. When I met Dr. Chong, she mentioned an enzyme replacement therapy and CASA HUNTER to me and my cousins, who are also MPS patients. So, I went there to see for myself. I felt at home, I was warmly welcomed. Today, I know that whatever the people at CASA HUNTER tell me is right. They accompany us, try to solve our everyday treatment issues, help us with everything we need. Now I am waiting for the court decision to make the enzyme replacement, but with much more hope, because as long as I have any chance, I will chase after it. I did not know that my disease could be remedied, and CASA HUNTER helped me to discover all this.
MPS II Patient - São Paulo
I was only confirming the MPS diagnosis when a cousin died, around 2008. I spent almost a year just taking exams - urine, radiography, blood, tomography, everything. I also have pigmentary retinosis, which my doctor believes is a result of having MPS. I decided to seek treatment and information about the disease. That was when my ophthalmologist told me about CASA HUNTER. I mentioned this to my cousins, who also have MPS, and coincidentally, we were all going to take exams, and we decided to go all together. For me, the first contact with CASA HUNTER, with Tony, was surreal! Right away, he hugged me, talked to me, like he was already my friend... He told me a lot about MPS that I did not know, talked about his son, showed me the NGO and said he wanted to help me. Then, we turned in the paperwork to request the medication. I am waiting for the court decision. CASA HUNTER supported me in the throughout all the exams and in organizing the papers. In fact, it gave me hope. I had no prospects, and now, I have a chance to take the medication. If it were not for CASA HUNTER, I would not be able to do all this alone. It is a long, hard road, but nobody can do it alone, you have to ask for help. And the best place to get help is CASA HUNTER.
Plinio Gherardi Junior
Parent of an MPS patient
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.