Diagnosis of Autoimmune Retinopathy: Becky’s Story, Part 2

Hello, again. It is Becky Jayakumar and part one of my autoimmune retinopathy (AIR) diagnosis is available here. Since AIR is a challenging disease to diagnose and manage, there have been some bumps in the road since my last post. Almost immediately after the previous post was published, my third CT scan of the chest showed 3 masses in my right lower lung, which were multiplying (originally one mass earlier in the year) and increasing in size. This prompted my doctor to re-evaluate my PET scan (tests for active cancer) from earlier in the year. While the lung spots did not show activity, they did notice that my thymus was active on PET scan and subsequently, I was referred to an oncologist. Ironically, my oncologist canceled the appointment as I was not yet diagnosed with cancer despite the rationale for the referral was that a biopsy was physiologically impossible. Through connections and asking favors, I got the oncologist to see me later that day.

At this appointment, she was gruff to say the least as I am sure she was mad that I pulled strings to be seen by her. She told me that I would eventually have cancer due to my autoimmune conditions to which I responded “but the question is do I have it now?” She finally looked at my imaging and stated I needed surgery immediately. She referred me to a local cardiothoracic surgeon. To spare some details, I ended up canceling my surgery with this surgeon as I was not comfortable with him (there are only about 100 of these surgeries per year in the US) and received a referral to Mayo Clinic to their thymoma group who scheduled the surgery for a few weeks later.

Luckily, the lung lesions were not cancer and were actually due to my liver migrating up through three diaphragm perforations. Hence during the surgery, they reconstructed my diaphragm and removed my thymus from my heart, aorta, and lungs. There was significant hope from my doctors that the removal of the tumor would halt the progression of my vision loss. Of note, thymomas are notorious for causing another paraneoplastic disorder and removal is often curative. Unfortunately, my vision loss significantly worsened post surgery then eventually a few months later returned to a more similar progression to prior to surgery.

Post-surgery, I started on a series of immunosuppressants. Obviously, being immunocompromised during a global pandemic was not optimal. Currently, I am on my fourth immunosuppressant due to intolerance. Personally, I have experienced profound peripheral neuropathy, vomited more times than I can count, developed high intraocular pressure, was hospitalized with sepsis, and visited the ER with COVID due to the immunosuppressants. Ultimately, I decided I wanted to enjoy life and was willing to accept some vision loss. Currently, I am on an immunosuppressant for my other autoimmune conditions with hopes it will help my eyes. To that end, it seems to be helping as I have slower progression than when I am off immunosuppressants.

Due to very little evidence of retinal damage on eye scans, there was still a question if I received the right diagnosis. Earlier this year, my retinologist referred me to the University of Iowa which ended up being the best appointment thus far in this journey. This retinologist reviewed my records, performed a number of tests, and ultimately, used artificial intelligence (AI) to read my optical coherence tomography (OCT) scan. The OCT scan showed damage to a specific layer of the retina which is often found in AIR. Due to the nonspecific nature of the AIR diagnosis, this was the most objective evidence thus far regarding the cause of my vision loss. This retinologist believes my vision loss is due to some combination of AIR coupled with subtle genetic alterations (I also carry 3 retinitis pigmentosa genes with unknown significance) leading to my vision loss. Additionally, they took skin cells and blood for an eventual study and described how my AIR presentation was similar to some they had in a previous study. As weird as it may sound, I finally felt like I was being taken seriously and they had at least some answers on what was happening.
This is a condensed version of the last four years since my initial AIR diagnosis which the diagnosis was subsequently questioned at every appointment thereafter. This condition does not have specific diagnostic criteria and the presentation of AIR varies significantly between individuals. For many of us with AIR, we struggle with our doctors understanding this condition especially if retinal structure does not equate the retinal function and diagnosis is often a long, convoluted process. Thus, I would like to share a few things I have learned along the way that may be helpful to someone else.

If you are uncomfortable with a physician you are seeing, feel empowered to get second opinions. AIR is a poorly understood condition and having support from your physician(s) makes a world of difference. I feel fortunate to have a team that I now trust despite multiple times that I unofficially fired physicians.
It is okay to grieve your vision loss and secondary losses like driving. These are ambiguous losses and things that most of us never thought would occur. It shifts our view of what we expected and how we envisioned our future. Consider attending peer support groups on vision loss to normalize your experience or even individual therapy to work through intense emotions around vision loss. There is no playbook on how to lose your vision but finding others who understand the struggle can help you process what is happening.

Balancing the side effects of immunosuppressants with the desire to stop the progression of vision loss is a hard decision and so personal to each one of us with AIR. Without a standard primary treatment for AIR, there is no correct answer on what is best for treatment. If you are debating what is right for you, self-reflect what your priorities are and use that as a guide to what will meet your needs best. Regardless of what you choose, give yourself grace and self-compassion as there will be days that you question your decision.
Advocate for changes at a local and national level to improve non-visual accessibility. The fear of going blind is augmented by how inaccessible our daily environment is. In most situations, government decisions overlook the impact on those with disabilities including those who are blind. Involvement and education on how the legislation or decision impacts our community can make a world of difference.

Find connections within your local or even extended community. I have attended blind retreats (thanks Daring Sisters!), visited a guide dog school, finished a blind leadership program, attended multiple blind conventions, and am involved in local blind non-profits. All of these experiences expanded how I viewed blindness and opened more possibilities for the future. Additionally, it gave me a community to lean on when times are tough and an opportunity to be that strength when others are going through a tough time. We are all more resilient than we believe.