Rachel H’s Story
Rachel H. | Age 54 | Mercer Island, WA
When were you diagnosed, and how did you or your family first notice something was different?
I was diagnosed in July 2023 after I went to an ophthalmologist and discovered I am severely color deficient, meaning I am color blind. I was then sent to a neuro-opthamologist who did genetic testing — and Wolfram syndrome was on the panel. My color blindness is a result of my optic nerve atrophy, a primary symptom of Wolfram. I have been asking my family for several years, "What color is this?" in reference to clothing, decor, etc. I was surprised to learn that I am technically color blind because I can see colors — I just have a hard time distinguishing between certain colors, particularly in dim lighting.
What has been the biggest challenge, and how have you learned to cope with or overcome it?
The biggest challenge was trying to stave off getting diabetes. I was pre-diabetic for 10 years and slowly my A1C (the blood test used to diagnose diabetes) continued to creep up no matter how well I ate and how consistently I exercised. This was very frustrating and upsetting. My A1C eventually went into the diabetic range and I was diagnosed as a type 2 diabetic. Since being diagnosed with Wolfram, I have learned that I have atypical diabetes. Getting an accurate diagnosis was very helpful, particularly to get the proper treatment for my diabetes, which is now well-controlled.
What’s something you wish more people understood about living with the Ashkenazi Jewish subtype of Wolfram syndrome?
It's hard having a genetic disorder that hardly anyone or any doctor has ever heard of. I have learned a lot about this disease and now am in a position where I have to educate many of my doctors. Also, it is thought to be more common in the Ashkenazi population than previously known, so there are a lot more people walking around with this disease who don't realize it. It is important to understand the symptoms, advocate for yourself and get tested.
I also want people to understand that though the Ashkenazi variant of this disease has some things in common with the classic and more serious Wolfram syndrome, it’s fortunately a milder variant and is thought to progress more slowly.
Has your diagnosis shaped the way you think about life, relationships or your goals?
In some ways it has, and at the same time, not really. It’s scary because the disorder is so rare and so little is known about the prognosis. However, I try not to get caught up in this. I have the perspective that life is uncertain and I don't know what the future holds — symptoms for this disease could continue to worsen, or something else could happen to me. I am mindful, however, that my optic nerve atrophy may continue to worsen and cause blindness, so I do literally look at the world and feel very grateful that I can still see its beauty.
What advice or encouragement would you give to someone newly diagnosed or to their family?
Take deep breaths, connect with others who have this disease and take one day at a time. Again, life is uncertain, as is this disease. We don't know what the future holds for us with this disease or with anything else really — most is out of our control and worrying about it does not change anything.