Português do Brasil
The Snow Foundation has joined forces with Belgium and France to find the cure for Wolfram Syndrome. This is an exciting news in the world of WS. Help us to share this idea.
Visit: http://thesnowfoundation.org/scientific-call-proposals/
Natã, another Wolfram Syndrome patient
It was about a year ago that I first met another Wolfram Syndrome patient, just like me. It was at a doctor’s appointment in São Paulo where I met Natã and his family for the first time. I can say this boy’s story is beautiful and it motivated me even more to move forward with my project and to help other people. After a year, Jeanete, Natã’s mother, reached out to me for help because Natã needed to get back to the doctor in order to have new medical tests and exams and also to have his vision checked but unfortunately they could not afford so many medical expenses. That is when we came up with the idea to raffle a Daily Rock’s guitar which had been donated to Natã. Just like Natã, I also had to return to the doctor and that’s when I finally had the privilege to meet, once again, this very sweet patient and his parents.
We are very grateful for the amount we were able to raise from the raffle tickets and generous donations which totaled R$ 6,121.00. Those proceeds allowed Natã to be seen by a neuro ophthalmologist on April 11 in São Paulo. The proceeds were used for payment of medical appointments, two sight exams: OCT and Evoked Potential, airplane tickets from Curitiba to São Paulo, 4 blood glucose control sensors called FreeStyle Libre as well as medications such as Idebenone, Puran and Risperidone.
Total value collected: R$ 4,634.00
Balance: R$ 1,487.00
The remaining amount is deposited in Natã’s saving account and will be used for his next appointment with the neuro ophthalmologist due next October.
Below you see the video of the raffle drawing.
Release WolframInside – Share this idea
As well as Rafaela, other people live with Wolfram. Some are diagnosed too late due to lack of information, lack of knowledge and that is why the WolframInside was created. A website to inform, a project to help.
“There will be a space for me to expose my feelings, ideas, support people facing the same journey as me, and to bring a little bit of information and knowledge I’ve acquired throughout my trajectory” – Rafaela says.
WolframInside started on 07 December 2016, in a lovely party at the restaurant Dado Bier, in Porto Alegre, Brazil. The contribution of each supporter was essential to the success of the event. Now we need you to reach our goal. We are available for lectures, meetings and to inform about the Wolfram Syndrome.
Help Rafaela to disclose the cause. Like, share, talk to your family and friends.
Check out the video of the release in its entirety and meet this idea:
Visit to the Washington University Research Center in St. Louis (USA)
On May 8, 2016, the patient Rafaela, accompanied by her parents, had a medical consultation with the researcher of “Washington University”, Doctor Fumihiko Urano. At the consultation, they talked about a research on Wolfram Syndrome. This research, conducted by Dr. Fumihiko is based on an existing drug called Dantrolene. On the same day, the family also met the Snow Foundation founder Stephanie Snow Gabel. The foundation is the largest worldwide organization created to raise funds for research on Wolfram Syndrome.
Appointment with neuro-ophthalmologist Carlos Felipe Chicani, MD
On July 15, 2016, a appointment was held in the city of São Paulo with the Wolfram Syndrome patient, Rafaela Ungaretti, accompanied by her parents, along with patient Natã do Vale and his family. The families from Porto Alegre and Curitiba set the appointment for the same date in São Paulo in order to meet each other.
After the consultation, the patient Natã began the medical treatment to slow the evolution of the optic nerve atrophy, a treatment that Rafaela has been under for four years with the American neuro-ophthalmologist, Alfredo Sadun, MD (Doctor Carlos Chicani’s colleague).
Lectures at Universidade Positivo from Curitiba-PR and Pontifícia Universidade Católica do Paraná
Invited by the geneticist Salmo Raskin MD, Rafaela do Vale (sister of the Wolfram Syndrome patient Natã do Vale) and the patient Rafaela Ungaretti held two lectures addressing the subject regarding the syndrome for medical students from the fourth and eighth semester. Rafaela do Vale reported a bit about the life history of her brother, now 13 years old. Rafaela Ungaretti spoke a bit about her experience as a WS patient. The lecture aimed to educate future doctors on the disorder and its early diagnosis.
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