Rare Disease Day Spotlight

Today, as part of Rare Disease Day 2025, Birdshot Uveitis Society of North America welcomes Barrie Smith and his birdshot story.

Birdshot uveitis is a rare autoimmune disease of the eye. BUSNA is a nonprofit organization that supports the birdshot community and various birdshot uveitis research projects.

Hi! My name is Barrie Smith. My rare disease journey began in 2002, when I noticed a large number of floaters, first in my left eye and then in my right. I was diagnosed with Birdshot Chorioretinopathy, a rare autoimmune disease that attacks the retina of the eye.  

Unlike many with Birdshot, I was accurately diagnosed relatively quickly. A military optometrist had referred me to Walter Reed for evaluation. Doctors there decided to rule out Birdshot by testing for the HLA-A29 genetic marker associated with the disease, but the test came back positive. Because my eyes seemed stable, the doctors chose to follow me with regular visits only. 

On my own initiative, I responded in 2006 to a National Eye Institute (NEI) newspaper ad seeking study participants with retinal issues. NEI confirmed my Birdshot diagnosis, conducted a series of repeated tests, and returned me to Walter Reed’s care after 18 months. 

I continued annual visits at Walter Reed without treatment until 2016, when I suddenly experienced significant vision loss in my left eye. Because Walter Reed lacked the capabilities to determine the cause of my vision loss, my Army retinal specialist referred me to NEI for further evaluation.  

NEI saw major vision loss and promptly started me on immunosuppressive medications. My Birdshot had progressed unseen for 10 years, with permanent damage. 

Under NEI treatment, I experienced two years of flares that required frequent adjustments to my medications, a common Birdshot patient experience. By early 2018, NEI judged my eyes as stable.

Quarterly testing at NEI now monitors my disease progression. In coordination with NEI, Walter Reed prescribes my medications and follows me for pre-glaucoma. Since Walter Reed routinely sees only a few Birdshot patients, my visits there often prompt “show and tell’’ sessions with ophthalmology residents and interns.

I am fortunate to tolerate my prescribed medicine regimen, and I retain sight in both eyes, although with significant vision loss in my left eye.

As a voracious reader now unable to read normal print comfortably, I am immensely grateful that my e-reader allows me to continue doing something I love. By personal choice I no longer drive at night, but I am not otherwise greatly hampered in other daily activities.

Because my immune system is suppressed, I see a dermatologist annually and take reasonable precautions to avoid exposure to covid, flu, and RSV. I believe that my experience mirrors those of many other Birdshot patients in its uncertainty amid the ups and downs of diagnosis, testing, and treatment. Birdshot is truly a journey that you take one day at a time.

Two birdshot-related platforms and organizations have been very helpful to me. Birdshot Uveitis USA Facebook group is a vibrant forum for people dealing with our eye disease. Also, Birdshot Uveitis Society of North America (busna.org) provides important resources for birdshot patients. BUSNA funds birdshot research in Canada and the US, and it advances education on the disease. I have attended several Gathering meetups on Zoom where we can ask questions and hear the stories of other patients. BUSNA’s Birdshot Day 2024 provided a great opportunity to hear birdshot experts and meet other birdies! 

It is important to diagnose this disease early, to find a specialist with the experience and tools to treat it, and to maintain a positive outlook through its challenges.

Remember that science is advancing understanding of birdshot uveitis and that we are not going through this experience alone!

Thank you, Barrie! There is no typical birdshot journey, but your experiences at Walter Reid and NIE are unique! Thank you for sharing your story. We are grateful that your screen reader enables your love of reading, and we wish you well with your treatment.