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Dear Friends,
It’s always nice to talk with you. When I wake up in the morning, the first thing that comes to my mind is Wolfram patients and families, as well as my own family and mom who live far away. When I go to bed at night, I think about our Wolfram clinical trial and regenerative therapy, as well as my sons’ soccer games and practices. Our clinical trial is now ongoing. We have screened several patients to see if they are eligible, and some patients are currently on low-dose dantrolene sodium. We plan to screen more patients in the next several months. This is a handcrafted trial with small funds. So we are moving forward relatively slowly, but this is an important first step to develop novel treatments for saving patients with Wolfram Syndrome. I keep working hard to secure more funds to accommodate more patients and prepare for the next stage of the trial (i.e., a multi-center and longer clinical trial). In parallel, we are developing novel drugs that can stop the progression of the disease, and breakthrough gene therapies and regenerative therapies to restore functions of damaged cells.
I always appreciate your continued support. Talk with you again soon.
Sincerely,
Fumi Urano, MD
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In the world of rare disease, I believe in the power of collaboration and the minimization of egos, especially when it comes to saving patients. The late Dr. Alan Permutt made a significant contribution to medical science in 1998 with the discovery of the Wolfram Syndrome (WS) gene. Eight years ago, Nolwen Le Floch, a WS mom, put a group of doctors and researchers in a room in Paris, France and told them,”No one leaves until we come up with a plan to collaborate and help these children.” Since 2010, Tamara Hershey completed seven successful years of Washington University Wolfram Clinics. Dr. Fumihiko Urano, back in 2011, met a determined mom (Stephanie Snow Gebel) at a Paris symposium who convinced him to move to St. Louis to take over Dr. Permutt’s research. Dr. Urano’s diligence and determination paid off, and the first-ever clinical trial on WS patients is now underway. Dr. Timothy Barrett, committed to helping his WS patients, is going to conduct the first clinical trial in Birmingham, England this summer. Dr. Saad Naseer fought fiercely to give our foundation a voice within the walls of big institutions, put patients first, and more importantly, helped speed up the process of getting a drug therapy to patients. Dr. Naseer was definitely Snow’s lighthouse the last two years.
Jack Snow’s daughter Stephanie pleaded and finally persuaded him to be in the birthing room when she was about to deliver her daughter Raquel.
Most people with Wolfram Syndrome are diagnosed as children. My husband, Don, was more fortunate than most. Don and I married in our 20s and had two beautiful daughters. Although Don’s diagnosis of diabetes and the onset of colorblindness in his 30s seemed odd, we had no idea that those two were related. We raised our girls and had a wonderful life together. Then in our 50s, my husband’s disease caught up with him. The impacted parts of his body began to cease being able to cope, but the reason was difficult to diagnose. It was eight years later that a genetic test led to the diagnosis of Wolfram Syndrome.
Gentian, the Italian committee on Wolfram Syndrome (WS), is conducting its first-ever community event for WS patients, families and specialists in rare disease. It will be held in Padova Italy on March 25, 2017. 
Stephanie Gebel and her daughter Raquel traveled to Chicago to meet Rafaela Ungaretti and her family who were visiting from Brazil.
