The Upside of Down: Latest Health Scare

Now that we are pretty much in the clear with Hirschsprung's Disease, we now have a new health scare with Carson. We took Carson to see a pediatric ophthalmologist as a routine checkup. Because Carson has Down Syndrome it was recommended to get his vision and hearing checked out. The eye appointment was on August 12, 2011. We didn't really have any concerns going into the appointment. I knew that the appointment would take a little while because they were going to dilate his eyes. Once the ophthalmologist came back to see us, he thoroughly checked out Carson. He then dilated his eyes and we had to come back in an hour. Everything seemed to be going fine.
When we arrived back and saw the doctor he checked Carson's eyes out for a while longer. He asked us if we had noticed Carson's eyes shake. We said we had when he was younger, we thought it was him trying to focus. We also thought it had decreased as he had gotten older. After checking out his eyes even more, he told us that Carson had opsoclonus and that it can be associated with a tumor, something neurological, or we just don't know why he has it. He said he would follow up with our pediatrician and to schedule an appointment to see him again in 3 months. I barely could understand what he called it and he was so nonchalant about it that I told Bert we would talk to our pediatrician because we had an appointment with him that next week.
At Carson's one-year checkup with our pediatrician I brought up the eye doctor appointment. He asked what Carson got diagnosed with and I thought he had told us something with -plasia on the end of it. He said he had noticed a horizontal nystagmus and that was probably what it was. He had not received a call from him yet. We left it at that for the time being. Not even a week later we were back at Dr. Bartlett's (pediatrician) because Carson had a cough, runny nose, and a rash and we wanted to get it checked out. Dr. B came in and said that the pediatric ophthalmologist had called him and told him that it was opsoclonus. He said that while he had only noticed a horizontal nystagmus himself, something obviously made the ophthalmologist diagnose him with this. He didn't want to alarm us but he had referrals for us to an oncologist and neurologist and told us if we looked up opscolonus we would see it is commonly associated with neuroblastoma. Neuroblastoma is a form of nerve cell tissue cancer and it occurs in 50% of the cases of opsclonus myoclonus. We didn't know if Carson had that yet or not. Opsoclonus is an involuntary eye movement in all directions, while myoclonus is a muscle spasm/twitch. It's commonly called "dancing eyes, dancing feet" and occurs in 1 in 10,000,000 people. Obviously pretty rare.
We left the doctor's office in shock. We had to take our child to an oncologist! I couldn't let my mind wander because it kept wanting to go to a place I couldn't bear. Of course, as soon as I got in the car I began to google opsoclonus and saw how it is associated with neuroblastoma. I called my mom and told her what was going on and that she might not want to google it because it would probably freak her out.
We got in with the oncologist about a week and a half after all of this. He was a very nice and knowledgeable doctor. He wanted to do an ultrasound, chest x-ray, blood work, and urinalysis. If any of those tests raised any concerns we would go from there with further testing. Neuroblastoma commonly begins in the adrenal glands so the ultrasound would be of that area and the urine screen was looking for catecholmines which is a byproduct of adrenaline. That would be important as well. A few days later we got the results for everything but the urinalysis and everything had come back normal. We didn't want to get too excited, but so far so good :)
Getting an appointment with the neurologist was a difficult task. They wanted something else from our pediatrician and would not allow us to get an appointment until they received that. Finally, after calling Carson's surgeon from his Hirschsprung's Disease just to discuss what all was going on, we got an appointment. The surgeon personally called the oncologist to see what was going on and tell him we were having issues getting an appointment with the neurologist. The oncologist called our pediatrician to inform him and he then called the neurologist. The neurologist talked to the receptionist and not only did we get an appointment finally, it got moved up to the next week! In the meantime, the oncologist had ordered an MRI of Carson's brain to check for tumors there. It took two tries going to the hospital, but finally we got it done and got the results a day or so later. Everything looked normal. Everything was still looking good :)
The neurologist appointment had finally arrived. We were very impressed with the neurologist as well. He took his time with us and asked a lot of questions and explained a lot to us. He took some video of Carson's eye movement as well. He said that Carson's eye movement was not as aggressive as what you typically see with opsoclonus. Usually, even if a tumor is not found, they treat opsoclonus myoclonus with chemotherapy, among other drugs. We weren't sure if Carson had the myoclonus part and he wanted a second opinion on the opsoclonus as well. He didn't want to step on anyone's toes, but if it was in fact opsoclonus there was another full body scan with contrast that we would do, MIBG scan, and then discuss treatment options.

Now, we are here, the night before the appointment with the pediatric neuro-opthamologist. She will hopefully be able to give us some answers, maybe not to all of our questions, but at least tell us if it is in fact opsoclonus, or hopefully nystagmus :) The neurologist also wants us to get her opinion on a treatment plan if it is opsoclonus, opsoclonus myoclonus, or nystagmus. We are hoping and praying for the best. We have been blessed to have such amazing doctors on Carson's side. I have personally received numerous calls from the oncologist himself, not a nurse, most recently just to check on Carson. We also have the neurologist's cell phone number to call with any questions and have stayed in constant contact with him. I know whatever path this takes us down, we will get through it and Carson will prove his strength to us again :)