I mentioned last week about feeling like a prisoner in my own home. Let me explain it a little further. This is what it is like for me day to day in my own home. During the summer in Nebraska it is very warm here. I cannot be outside long if it is above 70 […]
I’ve had a few incidences lately due to not being able to see. The first one was when we went to Olive Garden to eat. When they took us to the table my mom told me it was a booth so I needed to scoot down. So I kept scooting expecting to run into a wall but […]
Updates from the 2014 Wolfram Research Clinic at Washington University We had an exceptionally successful research clinic this year, with 24 patients and their families attending from all over the world and the US. We welcomed three new patients to our group this year and in a whirlwind 4 days, we performed 22 MRI scans […]
Honestly, until last year, I have felt very blessed to be a dedicated wife and mother of four unbelievable children. My brother, J.T. Snow, and I started a foundation in order to help raise money and awareness for a disease that few people knew about. Without the Snow Foundation raising money for Washington University School […]
Regenerative Medicine and Regenerative Therapy are the same concepts. Regenerative Therapy focuses on the clinical application of regenerative medicine. Regenerative therapy aims at growing tissues and organs from stem cells derived from patients in the laboratory and implanting them to patients. When we establish our ER disease clinic, we should include “regenerative therapy” into our platform […]
By Dr. Fumihiko Urano What is the first step to provide the best care for patients with rare endoplasmic reticulum diseases, including Wolfram syndrome? The answer probably applies to any undiagnosed disease. My answer as of today is “exome sequencing.” What is exome sequencing? Exome sequencing is a new technology to sequence all the genes […]
I had a great week. I just returned from the Wolfram Clinic in St. Louis. This is my 5th year going to the clinic. I am going to tell you the difficulties I had of hearing and seeing. The first night we had orientation. We were to go to different stations to sign papers and collect supplies. I […]
I had a wonderful week spending time with my family at Sherman Reservoir in Nebraska. We were able to take our first family vacation in 13 years. With my parents store they were not able to get away together and then my sister was in college. Since my parents sold their store we are now able […]
TAKING THE FIELD Family teams up against childhood syndrome Washington University in St. Louis Magazine BY Diane Duke Williams Last year, Stephanie Snow Gebel found out that her youngest daughter, 5-year-old Raquel, has an extremely rare genetic disorder that may one day rob her of her sight, her hearing and many years of her […]
Rare Disease Day is an annual, awareness-raising event co-ordinated by EURORDIS at the international level and by National Alliances and Patient Organisations at the national level. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The campaign targets […]
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