I attended my 3rd Wolfram symposium held in Paris France this past week. I brought along with me my sweet daughter Raquel and our babysitter, Kat Broom. I felt it was important to let Raquel experience Paris before she completely loses all of her eyesight. As of now, she is considered legally blind. I am […]
We went to Children’s Hospital today and Raquel was more excited this time than previous visits. She was getting her Omni Pod (Insulin Pump). Her blood sugars have been all over the place, which is not a good thing. When her sugars are high or low they can affect her vision, moods and appetite. Did […]
Since my nephew’s diagnosis of Neuromyelitis Optica (NMO) I was curious if there were any foundations representing NMO, after all, this is a rare disease just like Wolfram syndrome. My sister sent me a link to a foundation called Guthy-Jackson Foundation. When I read about this foundation, I was a little envious of what they […]
I am writing this from an airplane on my way home from Southern California after visiting my nephew, Jake, who has been lying motionless in a hospital bed for the last 16 days. Jake is an unbelievable 17-year old, great baseball player, as well as a type 1 diabetic. He has had diabetes since he […]
Barclay and I are moving forward! As parents you want to do everything possible to provide the best life for your children. Easier said than done when one of them has a life threatening disease. If you pray hard enough for the strength to just move forward, somehow, the good Lord will provide! This past […]
Last Friday, I had an unbelievable discussion with the owner of a company that has offered their help to The Snow Foundation to expand our wings. At the end of the meeting, I remember walking out of his office completely perplexed. I felt like I had just had a discussion with God, my mom, my […]
Today I was riding my exercise bike and reading “The Cure” which is about a desperate father, John Crowley, who loved his children and had committed his life to finding a cure for Pompe Disease. I read an excerpt towards the end of the book where John, an Ivy League graduate, had been able to […]
Last Saturday was my 7-year old son Jack’s first football game. The whole family went, including my brother J.T.’s 16-yr old son Shane who was visiting from San Francisco. We were all excited to go and watch these miniature NFL athletes. Raquel said to me, “mom why do I have to go, I can’t even […]
Wolfram syndrome is a rare genetic spectrum disorder characterized by insulin-dependent diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration, and ranges from mild to severe clinical symptoms. There is currently no treatment to delay, halt, or reverse the progression of Wolfram syndrome, raising the urgency for innovative therapeutics for this disease. Here, we summarize our vision for developing novel treatment strategies and achieving a cure for Wolfram-syndrome-spectrum disorder.
I have read many articles related to Wolfram syndrome. The most-read article is entitled “Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome” describing the natural history of Wolfram syndrome. This article was written by Timothy Barrett, MB, BS (MD), PhD in 1995.http://www.ncbi.nlm.nih.gov/pubmed/7490992 I read this paper over and over when I started working on Wolfram syndrome […]
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