Entries by The Snow Foundation

Chemical Chaperones Reduce ER Stress and Restore Glucose Homeostasis in a Mouse Model of Type 2 Diabetes

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.

Wolfram Syndrome: Diagnosis, Management, and Treatment

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.

A Mom’s Take On The Paris Wolfram Symposium

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 […]

It’s the Little Things

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 […]

We Can Be Like The Big Foundations

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 […]

Prayers For My Nephew Jake

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 […]

Move Forward and Keep Fighting the Fight

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 […]

Don’t Ask Why

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 […]

A Mom on a Mission

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 […]