BUSNA celebrates Rare Disease Day
Today we welcome Lisa, who shares her birdshot uveitis diagnosis story. Birdshot uveitis is a rare autoimmune disease of the eye. Birdshot Uveitis Society of North America is a nonprofit organization that supports the birdshot community and various birdshot uveitis research projects. This blog piece in the last in a series of testimonials published to commemorate Rare Disease Day 2024 which occurs on February 29th, the rarest day of the year.
My name is Lisa and I grew up in the Philadelphia area. I have since moved to central Florida to be closer to family. I’ve worked my entire life as an executive assistant and my independence is very important to me. I’ve always been healthy and considered myself lucky, having had 20/20 vision well into my late 40s.
One day, a few months after my 50th birthday, I started having strange visual symptoms. It never occurred to me that something serious was about to change my life.
I noticed it was getting difficult to see - not unusual for someone my age, but it was different because it happened seemingly overnight. It was like looking through Vaseline sprinkled with black pepper. I stopped being able to drive at night. Then even driving during the day was challenging.
One day, while sitting at a traffic light, the sky was covered in a black mesh screen and I knew something was very wrong. My optometrist was concerned and my vision was 20/40. It had always been 20/20. She referred me to a retina specialist. Then the back of my eyes started to hurt. In the retina specialist’s office, I was in a lot of pain.
At that time, as soon as he looked at me he said that something is wrong and that he knew it was posterior uveitis. He ran tests and said I had to get bloodwork immediately. I looked at the long list of conditions, diseases and cancers they were testing me for and knew my life was about to change. I waited a month for the results. All negative. Diagnosis: idiopathic posterior uveitis. It would took 2 1/2 years before we knew it was birdshot.
Treatment for the posterior uveitis started with Kenalog injections. They lasted less than a few weeks. I was referred to a rheumatologist and prescribed prednisone and methotrexate. I was against taking what is essentially chemotherapy and steroids. The methotrexate caused half my hair to fall out and gave me extreme fatigue, nausea and dizziness. My eyes weren’t improving so we added Humira and I was now taking three serious medications.
Monthly bloodwork showed my liver enzymes were three times above normal so methotrexate was eliminated. My hair eventually grew back. We increased prednisone to 40 mg. and doubled Humira so I was injecting weekly. I had steroid moon face, weight gain, and the hump back. I had been taking steroids for over two years and the rheumatologist said I had to stop. I continued with weekly Humira until I started having excruciating and debilitating pain in every joint that felt like I had broken bones. I lost 11 lbs. in one month. I had developed drug induced lupus from Humira.
I stopped taking it immediately and went back on prednisone while my retina specialist thought about what to do. His research showed cyclosporine, an immune suppressant, had success with Birdshot. It was also during this time that my inflammation changed pattern and began to resemble Birdshot. This was two and a half years since this all started. We planned to begin cyclosporine with Ozurdex injections but he wanted me to see a specialist at Bascom Palmer.
The doctor at Bascom Palmer said I appeared to have a textbook case of Birdshot, but he wanted to run a DNA test which did confirm I was HLA A29 positive. It was almost a relief to know the cause though it also meant there was no cure.
Ozurdex worked amazingly. I had three rounds over the next couple years and then developed cataracts which reduced my vision to 20/200. The cataract surgery went fine and my vision improved. I continue to take cyclosporine and gradually increased the dose. Side effects are minimal – fatigue and dizziness. Ozurdex still works wonders for me.
Out of the blue, I am starting to flare again. We plan YUTIQ implants soon and hope that keeps my eyes stable for longer. It is still a roller coaster ride but I’m hopeful for the future.
Almost eight years since this began. I try to keep its impact on my independence minimal, but I would be lying if I said I was always successful. At times it is difficult to drive, and I can’t drive at night anymore. It can be difficult to see at work. I am much more fatigued than I ever was, and the never-ending doctors’ appointments, bloodwork and trying to get prescriptions is always a struggle. I tend to downplay its impact on my life because no one could possibly understand since I look like I’m in the peak of health. Fortunately, I found a great doctor, which is key, and my vision, with its ups and downs, remains stable.
If I could give anyone advice who is just beginning this journey it would be not to panic and take it day by day. Be open to options and find a doctor who balances your quality of life with your treatment.
I’m very grateful there is an organization like BUSNA which introduced me to some amazing people who share this rare condition. You don’t feel so alone.
Thank you, Lisa, for sharing your birdshot journey. We are glad that you have found a specialist that is helping control your symptoms, and wish you well on your birdshot journey!