Cathy Gildenhorn’s Story

Cathy Gildenhorn | Age 69 | Chevy Chase, MD

1. When were you diagnosed, and how did you or your family first notice something was different?
I was diagnosed for almost 15 years with low-tension glaucoma from my mid-40s until early 60s. Then I went to a neuro-ophthalmologist who knew that color, contrast and clarity — which were big issues for me — were not typical symptoms of glaucoma. My doctor, a rare disease and genetic specialist, knew of Wolfram syndrome by happenstance and saw that I had symptoms of optic neuropathy, so he did the genetic testing around October 2019 when I was 62, and from there I was diagnosed. 

Looking back at some of my manifestations, I always probably had early signs, but it's always been mild and nothing that really would have triggered a recognition of the condition.I do think that the Wolfram really surfaced more — even if I'd been a carrier all my life — with hormones and menopause, but there's no way of proving that. 

Since my late 40s, my biggest issue has always been my eyes. I have trouble seeing colors when there's not a lot of contrast.

Neurologically, for several years, I haven't been able to detect odors and taste. Like color and contrast, when it's an intense flavor I can taste it, but when it’s faint it's hard for me to tell rosemary from sage, for example. I have some urological bladder issues and some experience with the sensation of throat closing or choking when I'm eating or drinking. I’ve also had pre-diabetic numbers for years, but they've all been in the stable range.

2. What has been the biggest challenge, and how have you learned to cope with or overcome it?
I was the most independent person I knew until I had to depend on people — because now I can't drive. So that has been a big hurdle for me.

In other areas of my life, technology has made it so much easier. Our phones and our iPads have great accessibility features and we can take them everywhere with us. I read on my Kindle with a very large font, which is helpful. I have a low vision specialist that's given me different devices that clip onto my glasses to help me read columns of a newspaper or see far away. 

I found that while it is a challenge, it is something where you have a choice when you get up in the morning: you can strategize and live the best life you can with whatever new realities you have, or you can not get out of bed. You make it work for you. 

3. What’s something you wish more people understood about living with Wolfram Syndrome?
Recently, when I went to an allergist, I had to give them some background and I told them all about Wolfram syndrome. And when I left, the doctor thanked me for educating him about something he'd never heard about before. That really motivated me to raise awareness. 

You also need to be able to look at individual symptoms, holistically and ask: is there something larger going on in my body? And collect all the different symptoms or manifestations you're feeling and present them to your doctor.

It can take 15 years to get the diagnosis because you have to wait until you get in front of the right person, so you have to be your own best advocate. I think it’s important to be smart about your own body, and be your own best advocate because you can't always plan on other people being that for you.

4. Has your diagnosis shaped the way you think about life, relationships, or your goals?
My diagnosis set some real goals for me. I knew I wanted to create a podcast — and worked to get it done. It's called “It Happened to Me: I'm Not Alone and Neither are You.” I’ve learned so much from it — our guests share their medical challenges and experiences of living with rare diseases. Everyone has a story, and almost all of us have medical challenges. Before the podcast, I feel like there weren't many opportunities to build community, raise awareness, make people feel like they're not alone and help them find strategies for better living.

I think my diagnosis also really made me appreciate my life — and pushed me to experience as much as I could. In January 2025, I went to Antarctica and Patagonia. I had some limitations, but I went, I did it, I loved it, and it was the adventure of a lifetime. I was proud of myself for doing it.

I really think it's a matter of thinking outside-the-box about what your limitations are, and what you can do with them. Be realistic, be smart, but you don't want anybody to ever just sit if they can stand.

5. What advice or encouragement would you give to someone newly diagnosed or to their family?
Going online is a double-edged sword. While the internet can be scary with really rare diseases, sometimes it might be more of a way to get specialists, which is how I found Dr. Fumihiko Urano. 

I'd advise people to support your loved one, but to also not approach the process with expectations. To try to take a deep breath and just be, and let yourself feel what you're really feeling. Some people are going to need to grieve and go through denial, as with any kind of medical challenge.

I’d encourage others to be a little more accepting of change the diagnosis. You will discover your real best life that you can live under those circumstances. It's a big transition to a new way of life: sometimes that's joy, sometimes that's grief, sometimes that's a challenge. But whatever it is, it's going to be a change.