Rachel Hyman’s search for answers began when her blood sugar levels rose and she struggled to distinguish colors. The 54-year-old mother of three was diagnosed with gestational diabetes during pregnancy, but after years of managing the condition, her symptoms persisted. A journey of misdiagnosis and multiple physicians led to a shocking discovery: Wolfram syndrome, an incurable genetic disorder affecting blood sugar regulation, vision, and neurological health.
After years of searching for answers, Hyman finally found hope when she met Dr. Fumihiko Urano, a medical geneticist professor at the Washington University School of Medicine. The diagnosis revealed that Hyman had a milder variant of Wolfram syndrome, which affects Ashkenazi Jews. This rare condition has an estimated 1 in 500,000 people worldwide.
Hyman’s diagnosis marked the beginning of a new journey, one filled with anxiety and uncertainty. However, with the help of her treatment team, including Dr. Irl Hirsch, she is now taking supplements to try to slow disease progression. The team is working on clinical trials to gain more insights into the condition and its treatment.
Hyman’s experience has also led to a push for greater awareness and education about Wolfram syndrome. She is building a website with her mother to better understand the condition and advocating for genetic testing companies to include this variant in their panels.
As Hyman navigates her new reality, she remains optimistic but acknowledges that life is uncertain. “I have a good outlook,” she says, “but I don’t even know what’s going to happen when I get in the car tomorrow.”
Source: https://www.washingtonpost.com/health/2025/08/02/diabetes-colorblindness-genetic-testing