People think that when you are blind your other senses kick in to compensate. But when you are living with Wolfram Syndrome, that is not true. When I still had my sight, I was colorblind. When I was in first grade, I used to wear one purple sock and one blue sock. My mom told […]
In September of 2009 we established the Internet-based International Wolfram Syndrome Registry. As the prevalence is estimated at 1 in 200,000-700,000, the Registry was established to provide a cohort of patients for future studies. We have extended the clinical arm of this project to acquire longitudinal data on the pattern of disease progression and identify […]
Introducing… the Washington University Wolfram Syndrome Study Group! By Dr. Tamara Hershey I would like to tell you about the big picture of research and clinical activities at Washington University focused on Wolfram Syndrome. There are three parts to this effort 1) Diagnostic markers and treatment development for Wolfram syndrome using animal models and human […]
“Some Like It Hot and Some Sweat When The Heat Is On”- Hypersensitivity to Heat Hello Everyone, I told you last week the main symptoms of Wolfram Syndrome. Today I am going to talk about a lesser symptom that greatly impacts my life. This symptom is hypersensitivity to heat. My body has a problem regulating temperatures. […]
Diabetes, Wolframs and Botox, Oh My! Hello everyone. My Botox surgery was a success. I am happy to report that I am getting up only two or three times a night instead of every hour. I don’t feel as tired anymore through out the day. This has made me feel so much better. I am […]
Being Sick and Having Surgery, NOT A Good Combination Hello everyone! As you know I was going to have my surgery on Wednesday, but unfortunately on Monday night I was up every hour throwing up. I luckily didn’t feel sick but couldn’t keep anything down. My blood sugar started to drop a little so I […]
I’m Getting Botox, But Not The Way You’d Think Today I am going to visit my grandmother celebrating her 80th birthday. I love my grandma and it is always fun to get together with all my relatives. After my doctor visit on Monday, I found out that my urologist is going to try something new […]
Patient Based Therapeutics – Part 1 We are taking an unconventional approach to develop therapeutics for Wolfram syndrome. I would call it “patient-based therapeutics.” Our extensive molecular characterization of patient cells, especially iPSC-derived cells, has been providing us remarkable insights into the root cause of Wolfram syndrome. Based on these insights, I have been carefully choosing […]
Jon Wasson Yesterday our dear friend Jon Wasson passed away after a lengthy battle with Cancer. Jon was instrumental in the discovery of the Wolfram gene (WFS1). Jon worked closely with the late Dr. Alan Permutt, both bringing Wolfram syndrome research to the forefront at Washington University School of Medicine (WUSM). Jon played a major […]
4th Annual Clinic on Wolfram Syndrome Held at St. Louis Children’s Hospital July 17-20th The 2013 Wolfram Research Clinic was run over four days in mid July. A total of 22 patients, six of which were new, participated in MRI scans and many other measurements, totaling up to 326 individual appointments. This clinic is now truly international, with two families from […]
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