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.
In mid-March, the whole world shut down. Las Vegas shut down all non-essential business on March 18th and California actually did the same the week before. With that, I received a call on March 13th, that both my March 25th (ERG) and March 30th (retinology) appointments were cancelled since their clinics were closing for 1 month. Their earliest appointments were June 17th and 19th!
Obviously, I took the appointments, but I was devastated. This meant continued vision loss for 3 additional months, potential delayed treatment, and so much unknown. I am not one to wallow in grief or get stuck in negative thoughts for long, but this was day challenged me. I laid in bed all afternoon and mostly cried. I really wasn't sure how to move forward. I am always one to expect the best but prepare for the worst, but this was not something I was prepared for. It was a difficult pill to swallow knowing that nothing would be done for an additional 3 months and I would literally have to watch my vision continue to worsen knowing that there was no reversing any damage that occurred. I was emotionally destroyed.
By the time my husband got off work, he forced me to get up since laying in bed never solved anything. Of course, he was right but I was still in a foul mood. I slowly resolved that there was nothing I could do to change this situation so I better do what I could to help myself. With this, I began to research alternative treatments for autoimmune diseases and came across the autoimmune protocol diet. While it had no evidence in autoimmune retinopathy other than anecdotal reports from patients, it did have strong evidence for ulcerative colitis and rheumatoid arthritis. So beginning of April, I decided to give it a try. Next post will be describing the diet rationale, foods, and experience.
The next steps was to see ENT and get a biopsy of my nasopharynx which showed increased activity on the PET scan in January. I was able to get into a local ENT and this may have been the weirdest doctor appointment I have ever had. At this appointment, they set me in a chair and the nurse immediately sprayed anesthetic into my nose after explaining they were going to use a small scope to go to the back of my nose. Then the ENT came in, looked and decided my nasal pathways weren't open enough so he sprayed the area again. The third time he came in, they still weren't open enough so he used anesthetic soaked gauze and placed it into my nose to sit for about 10 min. Finally, when he came back used the scope to visualize the back of my nasopharynx and said "it just looks like bad allergies with enlarged adenoids. You're good to go."
I literally had to STOP him from leaving the room and explain why I was there (because they had never asked!). Since they think I have autoimmune retinopathy which is often cancer associated retinopathy, I needed to have a biopsy per UCLA retinology. After explaining what was happening, he was like oh, I guess we should do a biopsy (shaking my head). Nonetheless, the biopsy gets scheduled for the end of February in an outpatient surgery center.
The day of the biopsy was relatively uneventful. They prepped me for surgery, gave me anesthesia and next thing I knew I was awake. After a few post-op instructions (don't blow your nose for 2 weeks and other minor things), I was on my way home to sleep the rest of the day!
The next week, I received a call that all the initial pathology was normal and the final stains would be available at my appointment. During my final appointment with the ENT, I was cleared of any nasopharynx cancer! What a relief this news was. Now to wait another 2 weeks until my appointments at UCLA!
At the end of January, I had an appointment with UCLA retinology. This appointment was originally scheduled for the middle of February and shockingly got scheduled earlier! Similar to many of my other eye appointments, this started with some diagnostic exams including the OCT and visual acuity exams. After these were completed, the retinologist examined my eyes and reviewed my previous medical records and workups. From there he sent me to do a wide angle eye angiogram in which they inject dye in your veins and take pictures of the blood vessels in your eye. Then it was back to see the retinologist to review and set the next steps.
The eye angiogram showed some blood vessel leakage in the peripheral areas of the left eye and some minimal in the right eye. The retinologist explained this was very non-specific and can occur in normal eyes but in combination with my symptoms and mild inflammatory cells visualized on fundascope, he believed there was an inflammatory component to my vision loss. Furthermore, he explained that the ERG I had in November may have been too early to see any changes and we should do another one in a few months. He reviewed the enlarged left blind spot that had been present and increasing in size over the months.
Although he did not have a diagnosis for me, he thought this could likely be posterior uveitis, autoimmune retinopathy or one of the many types of AZOOR (acute zonal occult outer retinopathy). Since autoimmune retinopathy is frequently due to cancer, he wanted me to ensure that I had a biopsy of the PET scan positive nasopharynx prior to my next visit. We discussed a trial of steriods if the biopsy was negative and got scheduled to return in the middle of March for an ERG, eye angiogram, and doctors visit.
Even though I left this appointment without a diagnosis, I felt as though I finally had some direction and was closer to answers and even potential treatment. As silly as it may sound, knowing that there were at least some abnormalities identified made me feel as though I wasn't "making it up". Obviously, I already knew that but it is hard to describe and live with something that is invisible to everyone else and the only thing you can do is explain what you are seeing/feeling.
Luckily, I was able to get my PET scan within 2 weeks of the news that I had a lung nodule. If you are unfamiliar with a PET scan, it is pretty much a fancy CT scan in which they inject radioactive tracers into your body to determine where the radioactive glucose moves to in your body. The higher the activity, the more the cells in that area are growing and thus it may show cancer.
My results came back that the area of my lung nodule did not have any abnormal activity! This was the best news one could have at the beginning of the year, but the news fell a little short. Incidentally, they found high activity at my nasopharynx (which is located at the back of the nose at the top of the throat) as well as in the lymph nodes in my neck. This correlated with the areas that were enlarged and inflamed on my previous CT. My primary care doctor, pulmonologist, neuro-ophthalmologist, and new retinologist at UCLA (will talk about this appointment next) all wanted me to get a biopsy of the location. That being said, I had won myself a ticket to go to see another specialist who is an ear nose and throat doctor to get the biopsy. My appointment was scheduled for early February and the biopsy got scheduled for late February.
When we returned from India, I was unable to get into my neuro-ophthalmologist until the end of January. My retinologist was able to fit me in and she did a few more tests. During this visit, I had an eye angiogram in addition to the OCT and vision acuity exams. This is were they inject dye into your veins and take images of the blood vessels of the eye. My results during this appointment were that I had healthy blood vessels of the eye; however, she was concerned that I continued to have progressive symptoms and wanted to refer my to a retinologist at UCLA. I was able to get an appointment in the middle of February for the UCLA retinologist.
Also, the attending physician at Mayo Clinic called and spoke to me about my symptoms both previous and new since my appointment and recommended a few additional tests. Ultimately, I saw my primary care provider and she ordered a CT scan from my head to my pelvis to look for any potential cancers or other abnormalities that could cause an eye response from a systemic problem.
On December 23rd, I received a call from her that I had a nodule/mass in the lining of my lung (called the pleura) near the diaphragm as well as several borderline enlarged neck lymph nodes. Being in healthcare, I knew this location of the lung nodule was more concerning than other locations regardless of size. Also, lung cancer was one of the most common causes of paraneoplastic retinopathy. Obviously, this news ruined the holiday for us as we processed the "what ifs" and worried about getting seen quickly.
I was able to get a referral to a pulmonologist at a cancer center before the new year. Typically, the recommendation would be to get a repeat CT scan in 3 months to monitor growth; however, they were able to review a chest x-ray that I had earlier in the year (to rule out active TB) and a previous CT of the abdomen and the nodule was not present at either time. For that reason, the pulmonologist ordered a PET scan to look for activity in the lesion that would indicate certain types of cancer. Luckily, my insurance covered the exam and got the prior authorization quickly.
More to come on the PET scan results and next appointments.
I was fortunate to be referred to a large tertiary center, which was Mayo Clinic in Rochester MN. My first appointments were scheduled with the neurology department. During this appointment, the neurologist who specializes in idiopathic intracranial hypertension was not convinced my eye issues were related to the results on the lumbar puncture and MRI; however, to ensure this he ordered a repeat lumbar puncture and a MRV (magnetic resonance venography, which is the same techniques as a MRI but the dye allows them to see the veins of the brain better). During this fist visit with neurology, he highly recommended seeing neuro-ophthalmology and he saw that the request from my Vegas physician was denied with no rationale so he re-requested for that department to see me. Furthermore, he tested my neurologic responses and I had no neurologic defects.
The next day, I had my MRV which was a similar experience to my previous two MRIs. And the following the day, I had the lumbar puncture preformed. This time during the lumbar puncture, they had me lie on my side in the fetal position while they took the fluid from my spine. Additionally, I was to continue to lie down for 20 - 30 minutes after completing to ensure that the spinal fluid redistributed. With these changes, I had no headache!
Meanwhile, through a handful of connections (old colleagues but mostly my brother-in-law who works for Mayo Clinic), I was finally able to get an appointment at the end of the week with neuro-ophthalmology department. Initially, it sounded like I would have to fly back a few weeks to months later to be seen.
After the MRV and lumbar puncture were completed, I saw the neurologist for my second appointment with him. My opening pressure during the lumbar puncture was at the upper limit of normal, but not elevated and there were no abnormalities on the cell counts. Interestingly, my MRV showed extensive signs of intracranial hypertension with nearly attenuated transverse venous sinus (nearly collapsed blood vessels on the back of my brain). So again, the results were incongruent.
Furthermore, my neurologist who is specialized in intracranial hypertension had no idea what this meant other than at the time, I did not have intracranial hypertension. He stated he thought about my case for an entire evening (and likely through the weekend), because it didn't fully make sense. He stated that I may be at risk for developing intracranial hypertension at sometime in my lifetime or perhaps I just had more spinal fluid volume causing the changes on MRI and MRV. Also, he was adamant that if they ever wanted to do neurosurgery for this, that I come back to see him at that time. To that end, I do need to get my eyes checked for a swollen optic nerves (papilledema) every 6 months to monitor for intracranial hypertension for the rest of my life since I have those changes on imaging.
Ultimately, my neurology appointments were helpful as they ruled out a condition that was questionable and I didn't need neurosurgery!!! On the other hand, it was disappointing to not know what was causing my vision loss.
Next up, I will describe my neuro-ophthalmology appointments at Mayo Clinic.
When evidence of intracranial hypertension was found on my MRI, my neuro-ophthalmologist ordered a stat lumbar puncture. With not driving, not knowing the date of the procedure and my husband out of town, I had a lot of anxiety how I was going to get to this procedure and back. To that end, outpatient stat means something very different than inpatient stat and it was ordered on Thursday and not performed until Monday when my husband was back so there was no reason to worry.
A lumbar puncture is also referred to as a spinal tap and a needle is inserted into your spinal fluid via your low back to test the fluid. This procedure was done by using an X-ray to find a good position. Unfortunately, I have scoliosis and needed to be an a relatively awkward position for them to get the needle in easily. Luckily, there were no issues once they found the correct position. Normally, you would wait 15 - 30 min after they removed the fluid for it to redistribute along your spinal cord and in your brain. Since this was an outpatient setting, they put the bandage on, gave me instructions on managing the injection site, and sent me on my way less than 5 minutes later.
I ended up having the worst headache of my life (and I have had viral meningitis and migraines in the past). For the first 2 days, I couldn't lift my head off of my pillow without my head pounding. The next day, I could sit up but no quick movements. Each day it slowly slowly got better, but it took me a complete week to be back to my baseline.
Around the same time as the lumbar puncture, I started having excessive exhaustion. It was persistent and some of the worst exhaustion I have experienced. One day after work, I slept 18 hours and only waking for a brief moment when my husband checked on me to ensure I was still alive. Most days, the exhaustion set in sometime during the midmorning (2 - 3 hours after waking) and often, I couldn't physically stay awake. I went from working out (high intensity interval training) three days a week or more to not being able to walk half a mile without a nap. This exhaustion continued for about a month and a half and nothing seemed to improve it. After some slow improvements and a change in meds, I began to improve a little each day. To this day, I still get overtly tired if I do too much computer work but not usually if I do anything physical.
My lumbar puncture showed I had elevated intracranial (brain) pressure and an extremely low glucose in my spinal fluid. With my neuro-ophthlamologist appointment 2 weeks after the lumbar puncture was completed and having my results, one of my other physicians prescribed a medication that can help with idiopathic intracranial hypertension, acetazolamide. This medication is a diuretic that can help in both intracranial hypertension and altitude sickness. Additionally, she referred me to Mayo Clinic neurology and ran a few more laboratory exams.
Once I saw my neuro-ophthlamalogist, my vision hadn't improved despite treating the potential intracranial hypertension for nearly 2 weeks. We discussed my results and although my brain pressure was elevated, it was considered indeterminate levels for intracranial hypertension. I had a pressure of 24 mmHg and 25 mmHg is diagnostic and 10-18 mmHg is considered normal. Also, it was unclear why my glucose was so low in my spinal fluid as it didn't follow a typical idiopathic intracranial hypertension picture. She began to doubt whether the intracranial hypertension was causing the vision issues since the pressure was not excessively high nor did the medication help. She had me stop the medication, which ended up getting restarted that weekend after my vision began to oscillate. Nonetheless, she wanted to refer me to a tertiary center which she added neuro-ophthalmology specialty to my Mayo Clinic visit. Typically, losing your vision due to intracranial hypertension is a neurologic emergency and neurosurgery should be conducted, but my picture was unclear and the risks may outweigh the benefits thus the referral was necessary.
More to come regarding my Mayo Clinic visit.