In early January 2016, Allie began to complain about eye pain just above her left eyebrow. She told us that it hurt anytime she looked far to the left or right without moving her head. She also said that her left eye will “go blurry” for about a minute several times a day. At first, we assumed this was eye strain from too much screen time. When reducing her time on her Kindle and other devices didn’t help, we scheduled an appointment with our optometrist because we suspected she may need glasses.
Our optometrist discovered that Allie’s vision was perfect. The optometrist did see some swelling behind Allie’s left eye, so we were referred to a pediatric ophthalmologist. That appointment was set for the following week.
The pediatric ophthalmologist, Dr. Hare, repeated the vision exam. She also said that Allie’s vision was perfect, but she recorded some small deficit in the vision field and some problems with the color vision for her left eye. They also took pictures that showed significant swelling in her left optic nerve. Dr. Hare decided that we needed an MRI to get a better look at Allie’s optic nerve. We scheduled the MRI for the next afternoon.
After the MRI, Dr. Hare called us at home that evening. Her preliminary diagnosis was optic glioma, or a tumor on the optic nerve. She said that optic gliomas are almost never malignant, but that she was referring us to neurology. She said we should expect an eventual referral to a pediatric oncologist and possibly even genetic testing for neurofibromatosis (NF).
Two days later, we met Dr. Dominski, Allie’s neurologist. She talked with us for a while, learning the history of this eye pain, and examined Allie. She said that she saw no problems or concerns with her central nervous system. We had to laugh when she asked us if Allie had any problems with balance or coordination. Allie is a dancer - she has great balance and coordination! Dr. Dominski won us over on the spot when she heard that, cocked her head to the side, and said, “Oh really? Well let’s see an arabesque!” Allie was only too happy to oblige! Dr. Dominski said that she likely concurred with Dr. Hare - this was an optic glioma. NF was not likely, but she was recommending genetic testing just in case.
The next week we received a call from the office of Dr. Patel, the pediatric oncologist, and scheduled an appointment with her. Much to our surprise, we discovered at that appointment that Dr. Patel did NOT agree that this was a glioma. She believed that this was optic neuritis. This news was a big shock to us. It wasn’t that we wanted Allie to have cancer, but at least it was an answer. Going back to this mystery was frustrating. The not knowing was definitely taking a toll on all of us. We left the appointment with the understanding that Dr. Patel would consult with other doctors and then contact Dr. Dominski. She felt that Dr. Dominski should continue with treatment for optic neuritis.
We heard back first thing the next week from Dr. Dominski’s office. Several doctors had consulted over the weekend via email. There was still disagreement over the diagnosis. However, they were ready to order more testing at this point. The plan was to have Allie’s braces removed, repeat the MRI, schedule a lumbar puncture, and draw blood for genetic testing. Although we continued to feel overwhelmed, the tests were also reassuring. The doctors seemed as frustrated as we were. Everyone wanted answers, so we were certainly in agreement on that.
The orthodontist removed Allie’s braces the very next day. The following day we had the second MRI. We also had a phone call from Dr. Patel that day. She still felt that this was optic neuritis, but she was planning to continue following the case as the uncertainty was still a factor.
Our next appointment was with Dr. Hare for a vision recheck. We learned that the vision in Allie’s left eye was declining. The vision field test also showed an increased deficit. Dr. Hare agreed that the lumbar puncture was a good idea, confirming that we would be able to get more information from it.
The very next day was the day for the lumbar puncture. We arrived at the hospital pretty early, because we were told to go to the lab first for the genetic testing bloodwork. The LP went very smoothly - that’s one thing I haven’t mentioned yet. Allie had been AMAZING through all of this. She almost never complained. She worked hard to catch up on missing schoolwork. She was incredibly patient on some very long days. To be honest, the only thing she really complained about was missing dance class!
Right after the LP, we went across the street to meet with Dr. Dominski again. She already had the early results from the LP, and the numbers were all “unremarkable”. However, her vision loss was definitely a concern. Dr. Dominski recommended treatment with steroids despite the disagreement over diagnosis. Mostly, this was because something had to be done and steroids are obviously less invasive than, say, a biopsy. We were set to begin five days of high dose IV infusion steroids the very next day.
The first infusion was problem free. Allie had learned to “brag” that every nurse tells her she has wonderful veins! They never seem to need more than one stick. After the infusion, we were given prescriptions for melatonin and benadryl to prevent insomnia and sent on our way home. The IV port was wrapped up nicely, and Allie was anxious to get home.
The only odd thing about that day was a phone call to schedule an appointment. We had a referral from an unknown source to Dr. Struck (another pediatric ophthalmologist). Later that afternoon, Dr. Patel called me. It turns out that Dr. Patel and Dr. Hare had spoken to each other and determined that they wanted another pediatric ophthalmologist to take a look at Allie. As a side note, Dr. Patel totally agreed with the steroid treatment and gave us a prescription for zantac to combat any stomach upset.
Later that afternoon I had yet another phone call, this time from Dr. Hare. She also confirmed the referral to Dr. Struck. It was very odd that these two doctors had such different interpretations of Allie’s condition. I felt afraid on one hand because of their disagreement, but also reassured that they were both working so diligently to solve this mystery. Since everyone (including the nurses from the infusion!) agreed that Dr. Struck has expertise in this field, it seemed silly not to go and have him evaluate Allie.
Dr. Struck’s office repeated almost all of the vision tests from Dr. Hare’s office. There was one additional test - electrodes were placed on Allie’s head to measure her brain activity in response to stimuli. This test confirmed that her left eye has a slower and smaller reaction than her right eye.
Dr. Struck told us that he felt that this was not glioma. He said it was neuritis, but not typical neuritis. He called it severe neuritis and perhaps even chiasmal neuritis. He noted that the “timeline” was much slower than typical neuritis. He speculated that this timeline may continue along this path, with more weeks of vision decline before an eventual vision rebound. He said that he does not typically prefer steroid treatment for neuritis, but given the severity of this case, he concurred with the treatment plan. He recommended that we continue the weekly vision checks with Dr. Hare.
The remaining infusions went fine. Other than some slight insomnia, mild hyperactivity, stomach upset, and crankiness, Allie was doing really well. She did run a low grade fever with the final two infusions, but the fever came and went pretty quickly.
On March 4th, 2016, five days after the last infusion, we had a phone call from Dr. Dominski. At this point, we expected that we would continue the weekly vision checks and wait to see the swelling in the optic nerve decrease. We knew there were still some test results out, but we had started to think this would continue on as a mystery. That phone call changed everything.
Dr. Dominski said that one test finally came back positive. Allie has neuromyelitis optica (NMO). NMO is a rare autoimmune disease with no cure. The body attacks the myelin around the optic nerves and spinal cord. Allie hasn’t exhibited any issues with her spinal cord yet, but we’re certainly on the lookout for that now.
Our next step is the Mayo Clinic in Minnesota where Allie is being referred for more testing and treatment. Our “mystery” has ended, but we now have more questions than ever. Thank you for your positive thoughts and encouragement as we learn about Allie’s condition and discover how we will work to keep her healthy.