Rare Disease Day 2023: Nora's Story

Today we welcome Nora Sobolov and her birdshot journey. Like so many of us, Nora's eventual diagnosis of Birdshot Choroidopathy followed many missteps.

As a former CEO of a national health charity, I thought I would have the resources to handle a diagnosis of a rare disease. I couldn’t have been more wrong.

From day 1 of my symptoms (when I was told I likely had a brain tumor) to my eventual diagnosis with Birdshot Choroidopathy, my journey veered from the surreal to the ridiculous. My doctors first settled on a diagnosis of a pseudotumor, and it took several months for them to finally acknowledge that their drug regimen and other treatments were having no effect.

By that time, my eyes were deteriorating rapidly and I truly believed no one could help. When my main Ophthalmologist called, having consulted with 7 other colleagues, and insisted I come in immediately for emergency eye shots, I was done trusting the system. I refused and asked to be reassigned to the one doctor who had asked me about my symptoms and was willing to discuss options. After a few rounds of high dose prednisone infusions and a one year failed clinical trial including monthly eye shots, I was in year 4 of my diagnosis journey. I was responding very badly to prednisone at any dose and it was clear that no one had been able to successfully treat me. I was slowly going blind.

I asked my doctor to retest me for everything and add Lyme disease as I had been suffering from terrible headaches for at least 6 years (diagnosed as sinuses) and wondered if that could be the cause of my eye problem. When I came back positive, he said, "Congratulations! You have Lyme disease." Six weeks of antibiotics later, my headaches were gone but my eyes were worse than ever.

In a hail Mary, I was sent to a new retinal specialist who took one look at my eyes and my chart and asked, "Have you been tested for Birdshot?" I had no idea what it was. The genetic tests came back positive, and I joined the club of Birdies suffering from a rare disease that has no cure, but many paths of treatment that might work. I was reluctant to take strong monthly infusions of another immune suppressant during Covid, but after trying several protocols I finally found something that might help.

I have an excellent doctor, resources, a supportive spouse and two graduate degrees and I still only stumbled onto a solution by accident. I’ve needed all these resources and more to go through this. People without such privileges have a much harder time getting a diagnosis and accessing proper treatment.

While it was once believed that Birdshot was primarily a disease affecting people with Northern European origins, doctors are beginning to see that those who don’t fit that profile should also be tested for the genetic markers. This is a symptom of a larger problem that disproportionately affects Black and Brown people throughout the health care system where many are ignored or refused treatment. These issues are magnified for those with rare diseases.

We need to share our knowledge and our privilege widely to make sure no one travels this road alone. I have greatly appreciated the work of BUSNA (The Birdshot Uveitis Society of North America), without which I would truly be in the dark.

Nora, thank you for sharing your inspiring story. And yes, we must work to increase awareness that more and more people with birdshot do not fit the profile. Best of luck as you continue on your birdshot journey!