Through connections in the autoimmune retinopathy (AIR) community, I was asked to write a blog about my diagnosis story. This was featured on www.navigatingblindness.com on 8/17/20 exactly one year from the date I began to experience symptoms of AIR.
Hello, I am Becky Jayakumar and I was recently diagnosed with autoimmune retinopathy (AIR). AIR is a rare autoimmune disease which destroys the retinal cells of the eye leading to progressive vision loss. There are different causes of AIR, no set diagnostic criteria, and no standard treatment which makes it a challenging disease to manage.
A year ago, I suddenly experienced visual changes and lost part of my left peripheral vision. Nothing seemed to cause it, nor did anything make it better. That evening, I was hospitalized overnight for an eye ultrasound, brain imaging, and labs and ultimately, these exams came back normal.
Over the next few months, my vision continued to worsen with progressive peripheral vision loss and increasing visual disturbances. During this time, I had more testing than you can imagine with many potential diagnoses which typically eventually got ruled out. My abnormalities included an enlarged blind spot on the left and a slightly reduced thickness of my left optic nerve. My local retinologist and neuro-ophthalmologist weren’t able to do the additional testing to look at function of the eye in NV, so I was referred to Mayo Clinic.
At Mayo Clinic, I had extensive eye imaging with their neuro-ophthalmology department and at the end of the visit, I was diagnosed with dry eyes. I tried to redirect the conversation to the info my other doctors had requested but I was reassured nothing was wrong. That evening, I was called back to get more testing the following week. An electroretinogram (ERG), which was one of the two tests requested in my referral, was performed. Unfortunately, my ERG was normal, so there was no further testing.
My vision continued to worsen for over the next few months, and I was referred to UCLA. In a wide-view eye angiogram, I had blood vessel leakage peripherally. With this and my previous testing, my UCLA retinologist thought I likely had either posterior uveitis, AIR or acute zonal occult outer retinopathy. All three of these are autoimmune mediated so we at least had a direction to move in. In March, I would have a repeat ERG since the first one was likely too early to see changes per my retinologist.
Unfortunately, both of my UCLA appointments were rescheduled due to coronavirus, which mentally was extremely difficult as I felt that I was getting close to answers. I was literally watching myself go blind while waiting three additional months (total of five months) for the appointment and I was distraught and devastated.
In June, the repeat ERG showed extensive loss of retinal function in the left eye. This prompted the retinologist to order retinal antibodies to confirm the diagnosis of AIR and to help determine the underlying cause. Retinal antibodies are all immune mediated; however, they can come from three categories: purely autoimmune, cancer associated, or melanoma (skin cancer) associated. Six weeks later, my retinal antibodies returned, and I had zero in the autoimmune, one in the cancer associated, and two in the melanoma associated category. Obviously, this is not what we expected nor wanted.
I have no overt signs of cancer or melanoma. Earlier this year, I had full body CT as well as a PET scan (scan looking for active cancer) and biopsy. With that said, cancer associated retinopathy (CAR; a subtype of AIR) and melanoma associated retinopathy (MAR; also, a subtype of AIR) lead to damage to the eyes frequently prior to the cancer being evident. In CAR and MAR, the production of the antibodies slows the cancer growth substantially, but destroys the retina leading to the loss of vision function. The next month or two will be filled with new specialists and additional diagnostic testing to screen and actively look for cancer. Having a diagnosis is a relief but also, its own sort of a nightmare.
This was the abbreviated story of how it took a year to get a diagnosis of AIR/CAR/MAR and now still need more testing to determine the subtype. Sadly, even though it felt like a lifetime, this is much shorter than the average AIR diagnosis. Obviously, I did not expect to be in doctor offices extensively nor to have progressive vision loss with a high probability of becoming blind in my late 30s. With that said, I am going to shift from how I got the diagnosis to the emotional toll and challenges of this diagnosis.
One challenge I experience daily is that I no longer drive. Driving allows you to have a freedom to go and do whatever you want and after more than 20 years of driving, it is a difficult thing to give up. With that said, the safety of others means more to me than my convenience. To do even the smallest of errand, I need to either ride my bike in a non-bike friendly city, rely on someone else, or use Uber/Lyft.
Another thing I struggle with is how to prepare myself to be blind. Losing your vision is mentally taxing with fears of the unknown. As you can imagine, knowing that you likely have an undetected cancer only adds to those fears. To help reduce my fear of being blind, I look towards others who have lost their sight for both inspiration and guidance. Seeing others live normal but adapted lives makes the future seem brighter.
Since my visual acuity is normal (at least for now) and vision loss is a spectrum, it can be difficult to explain to others what I see. I have a reduced visual field, flashing lights, random black spots and floaters, fog rolling through my vision, and an area that always blinks/moves. With that, people will often comment that I function great and they could never tell something was wrong. These well-meaning friends and family often say things that are intended to be supportive but imply pity. Yes, it is a hard situation but receiving pity isn’t going to improve how I feel or see. I do appreciate the support and love; however, I am gently trying to educate them on how their words are perceived. Luckily, I have an amazing support system and understanding friends and families who are learning alongside me.
My next chapter will likely look (yes, pun intended) different than it does today, but I know my connections in the visually impaired community as well as my family and friends will help me navigate the changes that vision loss brings. While I know there will be ups and down on this journey, I am tenacious in all things I do and will continue to do everything possible that I do with vision albeit adapted. I likely won’t be able to do the career I trained 11 years for since there are little to no adaptive tools for pharmacy, but I will continue to instruct yoga and fitness. Also, I am looking at how I can continue to give back to the community to find purpose and fulfillment in this new chapter. I will thrive blind.
At my one-month virtual follow-up with the UCLA retinologist, my retinal antibodies did not have results yet. I discussed with him on how the outcomes of my high dose steroid trial. Unfortunately, during the first two weeks (highest dosage which was then tapered down over the next month), I saw significant increases in flashes of lights, afterimages, and floaters. Finally, my eye pressure skyrocketed during the steroid trial (normally 10-14 mmHg and it increased to 27 mmHg in one eye and 24 mmHg in the other). During my discussion with him, I had asked if I would be expected to see a difference (improvement or stabilization) in that short of a time period. Unfortunately, if steroids were to work, I should have seen results while on the highest dosage during those two weeks and even once they started tapering. Obviously, this made clinical picture all the more confusing and unclear even to the UCLA retinologist. Until further was known, there was no further treatment they would try. I made another virtual appointment for 6 weeks out to discuss the retinal antibodies. A week later, I received a call that my results were back and the retinologist wanted to discuss the following week. Yay! The results came early but a little nerve-wracking that they moved my appointment up by 5 weeks.
Fast forward to the call with the retinologist, he discussed the three panels of retinal antibodies that they tested: (1) purely autoimmune (2) Cancer associated (3) Melanoma associated. From there, he discussed my results. No antibodies in the purely autoimmune panel. One antibody in the cancer associated panel and two antibodies in the melanoma associated panel. He discussed that this doesn't mean I have cancer, but the risk is higher and often the eye symptoms are prevalent prior to any obvious cancer symptoms. In theory, the cancer produces a protein that mimics the retina and the immune system responds leading to slower growth of the cancer, but destruction of the retina. He states to look on the positive "while you may go blind, it may save your life" by finding the cancer earlier. With the little knowledge I have on cancer-associated retinopathy (CAR), I ask about my specific antibody and if it is associated with any particular cancer so I could direct my screenings better and he actually has never seen this antibody positive before. Again, an enigma of a patient. He looks into it further and states there are case studies of endometrial cancer. Obviously, with melanoma associated retinopathy (MAR) it is most highly correlated with melanoma, a type of skin cancer.
Obviously, this was not what I had expected and it weighed heavy on my heart. As I usually do, I let myself mourn for an hour or so then began to plan for next steps. I told my husband and contacted my PCP to schedule an appointment for referrals for different specialities. At my virtual appointment with my PCP, I received a referral to dermatology, oncology, gynecology, a mammogram, and transvaginal ultrasound.
While waiting for my UCLA appointments, I was seen by my neuro-ophthlamologist and retinologist. The neuro-ophthlamologist confirmed that my symptoms were consistent with the retina and the enlarged blind spot on the left had increased in size after being stable in April. Additionally, during my vision exam I was unable to see the physician fingers (where they hold up 1 - 3 fingers slightly to the side of your central vision) in my peripheral vision while they tested it. From a retinology standpoint, they were anticipating my results for UCLA so no further information was determined.
Finally, June arrives and I arrive in LA for my appointments. First was the electroretinogram (ERG) which measures the electrical impulses by the light sensing cells in the retina. If you remember, I had this done at Mayo Clinic in early November which showed that the results were within normal limits. This exam showed that I had pathologic decreases in my cone function in the left eye and within normal results in the right eye (albeit less function than previously). Due to these decreases in function, the retinologist ordered serum retinal antibodies to help confirm a diagnosis of autoimmune retinopathy (AIR). There is only one laboratory in the USA that tests retinal antibodies and it takes approximately 4-6 weeks for results.
After discussion about how these changes were more likely AIR than AZOOR, we discussed potential treatment options. With some shared decision making, we decided to do a trial of high dose steroids to see it could stabilize or improve my vision. Additionally I was to have a virtual doctors appointment in a month to review the retinal antibodies and discuss how the steroid trial went.
After my UCLA appointments were cancelled, I was looking for anything that I could take control of. In a facebook group dedicated to autoimmune retinopathy (AIR), one member mentioned the autoimmune protocol diet a few months earlier. At the time, I was curious but not motivated to try a restrictive diet; however, once I was not going to get further testing or treatment for an additional three months, it felt like one of the few things I could control. I did a little research and as expected there was no data for AIR or other autoimmune eye disorders, but that was some compelling data for ulcerative colitis and rheumatoid arthritis which the pathology for both is related to an immune system dysfunction. I decided to move forward with the diet because at worst it wouldn't hurt and at best, it might help.
What does the autoimmune protocol diet eliminate? All potentially inflammatory founds for a minimum of 30 days then you add in a food approximately every week and gauge your reaction(s). Foods that are considered inflammatory include nightshade vegetables, grains, legumes, dairy, nuts & seeds, all sugars, butter & ghee, eggs, most oils, herbs from seeds, chocolate, alcohol, and all processed foods.
What can you eat on the autoimmune protocol diet? Foods that are safe to eat include vegetables that are not nightshades, lean meats & fish, fruit, coconut milk, some oils including coconut, olive and avocado oil, fermented foods, honey or maple syrup, and vinegars. Obviously, this is a very restrictive diet and is not anticipated to be followed forever.
How did it work for me? My other autoimmune conditions, psoriasis and hidradenitis suppurativa both improved. I actually didn't know that my skin had felt like it was burning for as long as I can remember until it improved so this was a very pleasant surprise! My intestinal symptoms improved. As for my eyes, I did have stabilization of my blind spot; however, it did not last and two months later, it was as larger than before. Perhaps, my decline in vision slowed but it is hard to know. Nonetheless, the diet was important to find out that eggs exacerbate my autoimmune skin conditions and potatoes do not agree with my gut. I know have reintroduced most foods and continue to avoid eggs and potatoes along with anything that contains gluten (celiac disease and was doing before this diet).
If you have an autoimmune disease, perhaps this diet will help you control flares or symptoms. Be warned, it is extremely restrictive and difficult to manage at work, traveling, or whenever eating out.