Tag: Rare Disease

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.

Continue reading “Diagnosis of Autoimmune Retinopathy: Becky’s Story, Part 2” →

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. Continue reading “Diagnosis of Autoimmune Retinopathy: Becky’s Story” →