Rare Disease Day 2023: Mari's Diagnosis Story

In commemorating Rare Disease Day 2023, we welcome Mari Schlorff as she shares her birdshot diagnosis story. Mari is a founding board member of Birdshot Uveitis Society of North America, and works to grow BUSNA's presence in both Canada and the United States.

My Birdshot story started in 1985 when, after many months of visiting local optometrists and ophthalmologists in Scotland, my mother was diagnosed with birdshot uveitis. She was diagnosed and followed by both Professor John Forrester and Professor Andrew Dick in Aberdeen until her death in 2007.

I was working as a physiotherapist in South Africa during 1984-05 and not fully aware of the difficulties that my mother had been experiencing. She was partially sighted, diagnosed with severe Birdshot, and was treated with oral steroids and immuno-suppressants. Mum had many of the side effects that most of us live with. She always tried to remain positive and was very independent, even with support from the family. Although it was devastating for her, she voluntarily gave up driving. I did not truly appreciate what she was going through until...

My own birdshot story began in 2005-06 with the occasional zigzag lines in my vision after having gone for a run. I thought perhaps that it was an ocular migraine or that I was dehydrated. I thought no more of it until one day when helping to lift a patient at our local hospital in Ontario. I suddenly became aware of semicircular flashing lights and blurred vision. I was very concerned that it could be a detached retina. I was seen by my local optometrist, who referred me immediately to an ophthalmologist, who assured me that it was not a tear. It never occurred to me that it could be symptoms of Birdshot.

Several months later I noticed a ‘snowball’ effect in my right eye with floaters, but did not take these signs seriously, as my mother in Scotland had just been diagnosed with a rare cancer and I was very concerned for her. It was not until after she had passed that I saw my ophthalmologist again and told him about my mother’s diagnosis.

He ran the usual tests of visual field, VA, OCT, concluding that I may have had ‘possible’ Birdshot. Unknown to me, he sent a referral to Dr. Derzko, my (now long term) excellent uveitis specialist in Toronto. This was life changing to me at that moment. Unlike many people who are first diagnosed, I knew exactly what Birdshot Chorioretinopathy was and I knew the struggle that my mother had experienced over the years.

I was unable to see Dr. Derzko quickly, so I decided to contact my late mother’s specialist for advice. Professor Forrester asked me if I could travel to Scotland the following week so he could complete all the necessary vision tests and HLA A29 blood work. I felt as if a lifeline had been thrown to me. I was hopeful that I would hear the words that I did not have Birdshot, but it was not to be.

I have been treated with all the usual steroids and immunosuppressants over the past 16 years. Humira is the ‘game changer’ that brought about my ‘quiet eyes’ remission. I am one of the fortunate ones.

As we all know, this is a life-changing diagnosis with many twists and turns along the way. We each have a unique tale to tell of our changing vision and our mental health struggles, our loss of independence in some fashion, and also of our disrupted lives. Each of us navigates his or her own treatment journey. There are hard truths to face and new decisions to make as we adapt to the way we see not just ourselves, but the world around us.

My sister, Fran, tested positive for HLA-A29 several years ago, but she does not have any symptoms of birdshot uveitis. There's much we do not yet understand. I remain hopeful that the excellent research that is currently being conducted will someday bring about a cure.

I loved and admired the way in which my mother dealt with her challenges. I'm resolved to try and live the same way, with the support from my loving family, and am thankful that she never knew that I had this disease.

I would end by saying that I owe a great deal to the BUSNA board for their support and friendship. They are amazing individuals who work tirelessly to bring awareness to this disease, support others, and raise funds for Birdshot research.

Thanks for your kind words, Mari, and for all you do for our birdshot community. Wishing you well on your birdshot journey!