Blog

My Wolfram Syndrome Journey – Pat Gibilisco – Pt. 1

Part I: The Beginning My journey started 28 years ago. My daughter was two years old when she was diagnosed with Type 1 Diabetes. We were able to manage it and still live a great life. When she was 12, she started to have other health issues, specifically, problems with vision and extreme thirst. Our […]

Jack Snow – His Cause Continues

Strong of Heart, Profiles of Notre Dame Athletes (written by Randy Covitz) 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. Tears filled Snow’s eyes when he held Raquel, his seventh grandchild, with the steady hands that caught 60 passes as […]

Clinical Trial Update by Fumihiko Urano, M.D.

Dear Friends, I would like to update you about the status of our clinical trial of dantrolene sodium in patients with Wolfram syndrome. Dantrolene is a US Food and Drug Administration (FDA)-approved drug currently used for different medical conditions. Based on our data, we received orphan drug designation of dantrolene sodium for the treatment of […]

Reflections

With 2016 behind us and the promise of 2017 ahead, I sit in my front room looking at the beautiful fire, wondering where the time has gone. My childhood was wonderful. I had two parents who loved me to the moon and back. My dad was one of a kind — handsome, charismatic and so […]

End Of The Year Update

Dear Friends, My highest priority right now is to work out the logistics for the upcoming clinical trial. As our medical center announced in November this year, we plan to start a phase 1b safety clinical trial of dantrolene sodium in patients with Wolfram syndrome. Dantrolene sodium is an FDA-approved drug utilized for the treatment […]

Wolfram Mom in Florida

I am a Florida mom with a child with Wolfram Syndrome. Actually, he’s no longer a child but he will always be my baby. My son is now 24, and has been affected by this disease since he was six years old. At that time, we lived in New York City with some of the […]

Struggles With A Rare Disease

A lot has happened over the last month and lately, I have been extremely exhausted and find myself wanting to crawl in bed, get under the covers and stay there for as long as possible.  I am a warrior for this disease and for all those suffering from it. Hell, my tiny little foundation has […]

The Snow Foundation: Fighting for a Cure

Wolfram syndrome afflicts only about one in 500,000 people, but a local organization is doing everything it can to bring the numbers down and find a way to cure this incurable disease. As described on The Snow Foundation’s website, Wolfram syndrome is an autosomal recessive genetic disorder that starts with insulin-dependent diabetes in early childhood. […]

Raquel and Braces.

Today Raquel is getting braces. It wasn’t the fear of her coming out with braces that heightened my anxiety, but it was the process. She was going to Demko Orthodontics, and they are wonderful. However, I was acutely aware of the fact that they probably have never had a patient like Raquel with some of […]

Finding A Cure for Victor

It’s been almost a year now since my 7 year-old son Victor was diagnosed with Wolfram Syndrome.  I still remember the day we found out, we got the diagnosis and then were basically sent home. Our doctor said all he could do is to try to treat the symptoms but not the cause because there […]