Carol Auerbach’s Story: A Mother’s Perspective

Carol Auerbach | New York, NY

I was very upset — as any mother would be — to learn that my daughter, Rachel, had a disease with no cure and the possibility of going blind. I’m someone who likes to be in control, or at least know the different options available to solve a problem. But with this diagnosis, there were no easy answers.

Once Rachel’s diagnosis was confirmed, she and her husband gathered our family at our beach house to break the news. Seeing how distressed they were — especially with three young children — I realized the most important thing I could do was be supportive. I tried my best to hide my own anxiety and focus on being present for them.

Over time, my role shifted. I became more focused on what, if anything, our family could do to support Dr. Urano’s research, with the hope that it might someday lead to a cure.

We later learned that my son Phillip is a carrier — part of the 75% who inherit just one copy of the variant and do not develop the disease. Looking back, I wish I had been tested earlier and known I was a carrier. I’ve always been pre-diabetic but never thought much of it. We also believed my mother had type 2 diabetes, but now I wonder if it might have actually been undiagnosed Wolfram syndrome.

I now feel a strong responsibility to help inform the public about this disease, hoping others might receive earlier, more appropriate medical oversight. As a grandmother to six fabulous grandchildren, I want their generation — and those that follow — to benefit from advances in knowledge and testing. Ideally, they’ll be empowered to make informed choices, like getting tested before marriage or having children.

Another important piece of this is encouraging people to explore their family medical histories. So many of us have parents or relatives who had symptoms, but no diagnosis was ever made. If more people took the time to connect those dots, we might prevent future suffering or at least manage it sooner.

In the end, I know I can’t change Rachel’s diagnosis. But this — raising awareness, supporting research, sharing our story — is how I cope with what I cannot control.