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”

Addison’s Diagnosis Story: Mainzer Saldino Syndrome & RP

We Have a Daughter. She is going blind. She helps us to see. Written by our special guest, Addison’s mom: Diane Bealer. 

When our oldest child (a girl) was just over a year old we noticed that she couldn’t see in the dark. This was a little worrisome to us but we didn’t freak out about it because we didn’t know we should for one, and we didn’t have any clue of the implications for another, the most important reason is that we weren’t ready for the truth at that point in our lives. As she got older we started noticing more clues that something wasn’t right with her vision. She would trip over things in dim light. She would freeze in the dark and not know where things were located. She NEVER got out of bed at night, unless there were bright lights on.

We took her to her first eye appointment when she was about 3-4 and the optometrist examined her and agreed that she needed glasses for nearsightedness but did not believe us about night blindness. It just did not occur in children that young. It wasn’t possible. This happened for 3-4 more years, every year we would go to the eye doctor and plead with them to do a more extensive exam, longing for some kind of answer. Every time it was the same thing. “Kids don’t get night blindness this young”. “You’re worrying too much”

Then the year she was going to turn 8 we took her to her annual exam, and once again I told the doctor of how she ran into things in the dim light and dark. How I knew in my heart something was going on with her eyes. He did the regular eye exam and said he couldn’t see anything wrong with her eyes.

Then I asked a question I hadn’t thought to ask before, “Will you do the same exam, but in the dark?” Continue reading “Addison’s Diagnosis Story: Mainzer Saldino Syndrome & RP”