VHL in Brazil
By Jamile Mansour, President
Aliança Brasileira de von Hippel-Lindau (ABVHL)
It was well known in my family that many members had numerous tumors in various parts of the body. When My cousin Viviane went for an abdominal ultrasound, they found several cysts in the pancreas. At the time the doctor simply said “it is nothing.” But Viviane was not content with this answer. Her mother had already had several operations to remove tumors. She decided to investigate herself and see if she could find an explanation.
She went to several doctors, explaining her own case and her mother’s, until one day she met a doctor who said she probably had von Hippel-Lindau syndrome. At this point she sought the help of the department of Genetics and Oncology at the Hospital in Camargo, under the supervision of Dr. José Claudio Casali da Rocha.
Dr. Casali da Rocha drew up a genetic pedigree, mapping the people in her family in order to identify others who might be carriers of the disease.
When the news broke, I had already been identified as a possible carrier, since my mother too had gone through several surgeries and had died when I was 11 years old.
I went immediately to be checked with abdominal ultrasound and examination of the retinas. The ultrasound found numerous cysts in both kidneys. I told the doctor about the syndrome affecting my family, and that cysts in the kidneys were a sign of VHL.
My doctor, who was not familiar with VHL, explained to me that cysts are nothing more than an accumulation of urine and then you release them. He chided me for making this into a disease! Clearly I was not talking with the right doctor.
Viviane |
I went to an ophthalmologist who was a specialist in myopia (near-sightedness) and had already performed two surgeries to correct myopia as early as 1995. He checked my retinas and found a hemangioblastoma on the retina. This confirmed the diagnosis of VHL.
At this point, I and my cousin Viviane went to the genetics service and requested MRI’s of various parts of the body. They found numerous hemangioblastomas, cysts, and tumors in the organs normally affected by VHL – kidney, pancreas, retina, cervical spine, thoracic spine, lumbar spine, and cerebellum.
Since that time Dr. Casali da Rocha has worked to identify other people with VHL throughout Brazil. He has appeared on television and radio, explaining the kinds of symptoms and issues that people with VHL might get. At this time he has identified more than 85 people in 25 families in Brazil with VHL, and has done some important genetic studies which had been published in important journals.
I have continued to go regularly for eye exams every three months, and a whole body check-up every six months. I had a partial nephrectomy in 2008 and have had many ophthalmic procedures (photocoagulation, Avastin, and cryosurgery). I am still working hard with my doctors to keep my eye well.
For the past several years it has been my pleasure to work with Dr. Casali da Rocha to build a patient support organization in Brazil. There have already been two national meetings. We are looking forward to the third National Meeting of the Brazilian patient support organization, which will take place on Sunday following the International Medical Symposium.
Dr. Casali da Rocha has organized translation support so that we can work together with representatives from the Spanish-speaking countries of Latin America, and with our many international participants in the Congress in English. We are very excited to be hosting the Symposium, and are looking forward to learning from the many world experts in VHL who will attend and make presentations.
Won’t you please join us in Rio in October? We look forward to meeting you and sharing ideas for how we can improve care and finally find a cure for VHL.
For more information about the agenda of the conference: click here
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