Diagnosis of Autoimmune Retinopathy: Becky’s Story

As you may know, our son Kai was recently diagnosed with Autoimmune Retinopathy. When we received the new diagnosis we were shocked and we are still adapting to the news. Thankfully, we had already built a strong network through this blog and our social media presence. We reached out to our community and thanks to your shares, our post was viewed more than 8,000 times.  Autoimmune Retinopathy (AIR) is extremely rare, but with your help, we were able to connect with 12 people who are navigating AIR and were pointed to a FB Community for Autoimmune Retinopathy with 166 members (#Rare). Becky is one of the people who immediately responded to our pleas for help with an abundance of support and information. I am honored she agreed to share her story here. Thank you Becky.

Guest post by Becky Jayakumar

Hello, I am Becky Jayakumar and I was recently diagnosed with autoimmune retinopathy (AIR).  AIR is a rare autoimmune disease that 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 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 a 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) the damage to the eyes frequently occurs before the cancer is evident.  In CAR and MAR, the production of the antibodies slows the cancer growth substantially but destroys the retina leading to the loss of visual 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 the 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 errands, 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 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.

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You can find Becky on Instagram.