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One day in 2012, I woke up with terrifying vision problems, including tons of floaters and glare. My vision was full of black haze that made it seem like I was looking through an Etch A Sketch, and I couldn't see in the sunshine.
I went to various eye doctors with different specialties over the next couple months. Each doctor couldn't find anything wrong. In the meantime, I was working nonstop and losing my vision. The only person who believed something was wrong was my primary care doctor. He got me in to see the head of the retina department at the Hopkins Wilmer Eye Institute. Once there, he referred me to my now lifelong doctor and friend, Jennifer Thorne, who quickly diagnosed me with a potentially blinding, autoimmune orphan eye disease called Birdshot Chorioretinitis, named as such because it makes holes in your retinas in a “birdshot” pattern. It is estimated that there are fewer than 5,000 people worldwide with this disease.
At that time, the only sources of information about Birdshot besides my doctor were internet search results, which made it clear I was likely to lose my sight, perhaps soon. I was put on extremely high-dose steroids for months, to stop the disease from causing blindness. Those meds made me extremely hyper and sick, but did bring it under control. Meanwhile, my government job ended, and I entered private practice, determined to practice law even with this scary disease. I asked my law firm to get me blackout shades and special computer programs for visually impaired people, and they were remarkably helpful in making my office life work for me.
After coming to grips with the fact that there is no cure for this disease, and being determined to carry on with what I wanted in life, I decided to go all-in to fight it.
After coming to grips with the fact that there is no cure for this disease, and being determined to carry on with what I wanted in life—see my future grandchildren, eventually have a happy retirement with my husband, practice law, and so on—I decided to go all-in to fight it. I established a Birdshot Research Fund in my doctor's name and got Hopkins to add it to the dropdown "about my gift" menu of the donation website. We've raised more than $600,000 and paid for a full-time Birdshot research fellow. My husband, son, and I decided to endow a professorship at Hopkins for my doctor; Jennifer Thorne is now the Cross Family Professor in Ophthalmology. She spends much of her time researching ways to treat the disease while helping patients maintain a good quality of life. I joined the board of the Wilmer Eye Institute at Hopkins, where I feel like my job is to make sure they remember orphan diseases.
But even with all this terrific forward motion, I still felt very alone. I didn't know anyone with Birdshot, since privacy rules make it so doctors can't tell patients about other patients. I'm often sick from the meds, having a flare, or feeling overwhelmed, even though I keep up a very positive public face. When I was feeling my most discouraged and alone, I found a closed Facebook group for Birdshot patients around the world. Other than research advances, this group is the best possible development for Birdshot patients. Unlike when I was diagnosed, patients can now find the group within a week or two of learning they have Birdshot. We "veterans" assure the new patients that it will be okay. We share stories, and talk about what works and what doesn't. We tell each other how to challenge our doctors, or get the doctors to talk to each other. We recently met in London for a patient-doctor meeting, at which my doctor and I both spoke, along with doctors and patients from all over the world. And we all hung out as actual friends in London pubs. I truly love these people.
I will probably be on three immunosuppressants for the rest of my life. My vision is full of "debris" from the disease and, in addition to making me sick, the meds occasionally make me look terrible (steroids cause "moon face"). I catch everything—and even came down with pneumonia in London. But I feel remarkably lucky to have found my doctor, taken charge of my medical care, helped others by funding research, and, finally, found friends around the world through the Facebook group. I work crazy hours as a lawyer, travel constantly, have a wonderful husband and son (and now the sweetest daughter-in-law in the world), and basically have my life. All in all, I feel very, very lucky.