Diagnosing a Rare Disease: Liz's Birdshot Uveitis Story

As part of Birdshot Uveitis Society of North America's efforts to commemorate Rare Disease Day 2022 on February 28th, each Monday this month BUSNA will share the diagnosis story of one of our birdshot friends. As with other rare diseases, many people endure tremendous hardship before learning the name of their autoimmune disease. Here is Liz's story. She spent years hunting down a correct diagnosis.

It started in 2016. I went for my yearly eye exam and mentioned that every once in a while, I was experiencing a disturbance with my peripheral vision, almost like a little ceiling fan. It was very sporadic and only at certain times of the day. The ophthalmologist said to keep a watch on it and to come back if it became problematic.

I repeated this conversation with various ophthalmologists and specialists until early 2018 when the whirring fans, images of trailing smoke and,

frankly, psychedelic lava lamp effects were truly scaring me. Yet, although I was seeing very good doctors, no one picked up on this.

At one appointment the doctor did say that it could “be something” and, again, keep an eye on it. Well, human nature is to hold onto good news and avoid the bad. The doctor didn’t absolutely say that I needed tests. That was enough for me. My life was very busy and I had family commitments. I put it down to aging, stress, and fatigue, since I had all three.

A few months later I was again frightened and concerned. The visual disturbances were bizarre, but again, only at certain times of day. I later realized that it was not the time of day. I learned that my rods and cones were malfunctioning during early morning, dusk, middle of night, and other low light conditions.

Later that same year, 2018, I developed very sudden cataracts; odd ones. They were referred to as “Christmas tree cataracts” which grow to an odd shape and become very thick, very fast. I saw a cataract specialist who was connected to a large eye clinic in the northeast, but he was so booked he could not operate for 4 months.

When I asked him about my visual weirdness, he said my retinas “looked just fine”. I remember asking him directly “should I see a retinal specialist?” Again, the answer was no. He DID refer me to a neuro ophthalmologist at the same eye hospital. It was terrifying. He checked me for a brain tumor. This took several visits and an MRI and blood tests. It was awful. He was dismissive and was surrounded by adoring residents.

After months of waiting, I FINALLY got the news that I did not have a brain tumor nor MS. OK, but I still had all the visual craziness. I asked this doctor if I should see a retinal specialist or some other eye specialty. His answer was to literally pat me on the head and say, “You’ve been seen by the best. Just relax”.

I found a very good doctor who removed my cataracts in January of 2019 and he was concerned with my symptoms! After the operation he said my retinas did indeed look good to him, but he also said that the average eye doctor’s office did not have the equipment to really look deeply into the back of the eye.

This doctor suspected “visual snow syndrome”, a benign condition in which the brain and the eye don’t communicate well. Eventually the condition resolves as the brain adapts.

He referred me to one of the top visual snow syndrome specialists at the John A. Moran Eye Center in Salt Lake City, Utah. It took 2 months to get an appointment with her, but finally, in early May of 2019, my husband and I flew to SLC. I breezed into the appointment, completely confident I’d get my diagnosis and be on my way.

Two hours later, this kind and caring doctor advised me that she did not believe visual snow syndrome was present. She told me about an excellent retina/uveitis specialist who worked on the same floor, and she literally walked me into the office of Dr. Albert Vitale.

Amazingly, Dr Vitale was at his desk and had a clear schedule for the day. He told me that I would not be leaving Moran that day without a tentative diagnosis. Blessedly, I was being seen by one of the top Birdshot specialists in the US. I had no idea.

Eight hours later, my husband and I walked out of Moran in shock and exhausted. I had been given ALL of the tests, one right after another that day. Dr. Vitale calmly told me about birdshot uveitis, the disease he strongly suspected was responsible for my symptoms.

Dr. Vitale also described a tentative treatment plan which included a high dose of prednisone and then methotrexate. I had been on 15 mg of prednisone before for other issues and had felt awful. What would 60 mg long term feel like??? I was obviously in denial, but Dr. Vitale warned me that if treatment was not begun, I could be blind in three years. I returned to Moran the next day for blood tests and a chest x-ray, and then I waited. I received my official diagnosis by July of 2019.

I was so frightened of the meds. I remember asking Dr. Vitale if we could simply do a steroid injection. He gently explained that we could not do that. He believed it simply wasn’t good treatment to start with steroid injections and he explained the risks. His opinion was to keep steroids in his arsenal in case we needed them, and he explained in detail the oral meds and their most likely effects.

He also explained the consequences of not pursuing aggressive treatment. I could become blind. I remember him looking me in the eyes and saying, “You’re going to do well on the initial steroid treatment and then we are going to find the right medications for long term treatment. You’re going to do this.” When Dr. Vitale told me, “You will take your steroids and you will be fine,” something in me responded. I DID do well on the high dose of steroids. Thank you, Dr. Vitale.

Incidentally, Dr. Vitale told me that his team had sent a letter to the neuro ophthalmologist I had seen back east to advise him of my diagnosis. They felt it was such a miss on his part that he should know…

It has been a journey. The prednisone DID bring down inflammation. Several medications we tried were not a good fit for me, but I have been on a good regimen since 2020. Although I’m not happy to be taking these medications I am thankful that I feel OK and that my liver is doing well.

Once I became stable, Dr. Vitale referred me to a colleague at Washington University Eye Center in St. Louis, since that's where I was living at the time. It spared me the expense and effort of flying elsewhere to be seen. I was treated at Washington U by Dr. Lynn Hassman, who is very familiar with Birdshot and is also involved in research. Later. when we moved to Nashville in late 2020, Dr. Hassman referred me to a specialist at Vanderbilt Eye Institute. Dr. Sapna Gangaputra is just plain amazing.

I am blessed to have been treated by three of the best birdshot uveitis specialists, and am determined to stay the course of treatment.

Special thanks to Liz for helping us commemorate Rare Disease Day 2022.

We're happy that her birdshot is stable, and we wish her well going forward!