How to Fight for Your Rare Disease Child

What would you do if you were the parent of a 5-year-old who is diagnosed with an extremely rare, incurable disease that causes vision and hearing loss, various neurological dysfunctions and respiratory failure that can lead to premature death by age 30?

And what if you knew that big pharma wasn’t interested in finding a cure or treatments for it, because frankly, there just isn’t a lot of money in developing a drug for less than 25,000 people worldwide?

That’s exactly the position Stephanie Gebel is in. Her third daughter Raquel, now 10, was diagnosed five years ago with an extremely rare disease called Wolfram syndrome.

Wolfram syndrome is extremely rare. It causes diabetes and vision and hearing loss; it can cause chronic fatigue, behavioral and/or psychiatric disorders, decrease in sexual hormones, neurological disorders like poor balance and difficulty breathing, loss of bladder control and digestive issues among other things. It decreases quality and longevity of life in most, if not all patients. This genetic disease is only treated symptomatically, and requires very diligent and dedicated treatment protocols to manage the patient’s comfort and lifestyle.

What is Stephanie doing about it?

Stephanie created The Snow Foundation in hopes of uniting the Wolfram community to find a cure. They identified a researcher Dr. Fumihiko Urano in St. Louis, MO that has the ability to conduct clinical trials on human patients for a promising drug that could actually halt the progression of Wolfram syndrome.

The challenge?

It costs around $4 million to fund this research and drug companies are not compelled to fund it (even though a cure for Wolfram could mean treatment for diabetes and other neurological diseases like Alzheimer’s). That’s where all of the rare disease community comes in. Stephanie’s team set up a crowd-funding platform to help finance this effort so that those diagnosed with this disease have hope for a better, longer life.

“I am not going to watch my child die because of money. I just won’t. I will fight as hard as I can, with every ounce of me, to raise the $4 million that I need to begin clinical trials on a drug that could actually stop the progression of this disease.” – Stephanie Snow


Jessica Gladwell

Jessica Gladwell

Jessica Gladwell is one of PW's consultants and patient editors. She has lived with late-stage, chronic Lyme and POTS since circa 2002. She has also served as a caregiver to close family members with late-stage, chronic Lyme. Before diagnosis, she served as a business consultant for a large corporation and PM for a small digital branding agency. Now, she is proactive in the rare and neurological disease community, spreading awareness and advising on matters of health and lifestyle when living with a chronic illness.

Share this post

Share on facebook
Share on google
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email
Close Menu