Hello! I’m Regen and I wanted to share my personal story with the rare diagnosis of autoimmune retinopathy (AIR). As a 23-year-old college graduate, the only anticipated stress I had was the start of Physician Assistant school, my next step to eventually diagnosing and treating others. Never could I have imagined the personal medical journey that I was about to embark on.
Bothersome floaters that grew exponentially within a short time frame prompted me for an annual visit to the eye doctor. While my provider reviewed that floaters can be a natural process of aging, her tone changed to concern when my visual field returned with significant blind spots. A negative MRI and uncertainty of next steps led to a referral to Wills Eye in Philadelphia. Initially, I was diagnosed with pars planitis, an inflammatory condition for which I was prescribed steroidal eye drops. Regular monitoring had revealed favorable exams – however, my symptoms were not improving but rather accelerating to include afterimages and strange flashes of color. Infuriatingly, I was told that the stress of graduate school in conjunction with baseline anxiety was the likely cause of such visual disturbances. Feeling unheard and my intuition pushing me to continue to advocate for myself, I consulted with a neuro-ophthalmologist at Wills Eye. Ultimately, he escalated my case and led me to a retinal specialist who formerly diagnosed me with AIR. While I was thrilled to have my concerns considered, this was certainly not the diagnosis I wanted to receive. A rare condition with no cure or consensus on treatment, it was quite the opposite of what I was looking for. After a consult with Dr. Foster at MERSI, a further lab workup was positive for three anti-retinal antibodies and two anti-optic nerve antibodies, further conclusive evidence in conjunction with my prior diagnostic tests and symptoms. I was in denial, but three unanimous opinions and a negative genetic workup later – indeed the culprit was found.
I started on a regimen of oral immunosuppressants, Cellcept and Tacrolimus, which kept my vision stabilized for about 15 months. I am fortunate that I continued to push for answers, as sadly many go misdiagnosed for much longer and alas, no treatment will regain the sight that has been lost. Upon receiving my graduate degree, I moved to Colorado and transferred my care to UCHealth. Unfortunately, months after my move I struggled with a few bouts of strep throat and subsequently sepsis, likely a result of my immunosuppression. This was the catalyst for further visual decline and warranted adjunctive treatment to my current regimen – infusions. My body battled through Rituxan infusions with limited tolerance and no further benefit as my peripheral vision continued to wither – next plan. STK and Xipere steroid injections were performed with little to no improvement. These follow-up visits with my doctor were taxing and elicited significant unease as there is no standardized treatment for AIR. Truly it feels like trial and error mixed with a lot of hope. IVIG was that last hope. After an exhausting battle with insurance, I was finally able to start IVIG infusions about 4 months ago. I am thrilled to be able to say that as of my diagnostic testing last month, I am nearly stabilized – the word that all of us with AIR are hoping to hear.
While I never expected to have been dealt such an emotionally and physically challenging diagnosis, I feel fortunate that thus far my life has remained rather unaltered. Nearly one year ago, I lost my ability to drive as I am now legally blind, qualified by my visual field being less than 20 degrees. The blessing is my central vision has remained strong at 20/30 and I am otherwise able to live a rather independent life. Due to the degeneration of rods, the photoreceptors responsible for night vision, I have a significantly harder time navigating in the dark and therefore am less comfortable alone. Throughout my journey, I have concluded that stress certainly plays a role in the trajectory of this diagnosis and it is essential to positively nurture your mind, body, and soul. The uncertainty of what the future holds for my vision is inevitably accompanied by fear, anger, and sorrow. However, I think it is important to constantly remind yourself of what you can and are able to continue to see and/or do in the present. Thankfully, I recently made the transition to work as a fully remote telemedicine PA-C which alleviates any work commute. As I was always taught, “prepare for the worst but hope for the best” – my future plans are to delve into the technological advances that are available to help make the possible future of further visual loss seem less daunting. I absolutely cannot omit credit to my incredible friends and family who have been pivotal in supporting me along the way.
This diagnosis has brought me wisdom amongst tragedy – nothing in life is mundane, advocate for yourself, laugh even in the hardest of times, and grief is not easy. I have learned mental fortitude that I never knew I had and for that I am truly grateful. While this was not what I pictured for my life, it has favorably shaped me into who I am today and I feel I am better for it. Lessons are still to come; some may not be quite as easy but the two that triumph all – one must never give up hope and take nothing for granted! Being in medicine, I remain optimistic that a cure for visual impairment will be in our near future!
Navigating Blindness 