We took Johnny in for a routine eye checkup. He gets his eyes checked at least twice a year, both because individuals with Ds often have vision and eye related issues and because an older sister with glasses often leads to checking younger siblings too. He has been doing better about wearing his glasses most of the time and the Opthamologist was pleased with that. She took note of his change in prescription and also noted tightness in his optic nerves. She said it could be nothing or could be something we needed to look at seriously, but we should check again in two weeks. She asked a handful of questions about his eating, sleeping, and mood and left it at that.
That night I googled. I know I shouldn't have, but I did. As I googled I kept coming across concerns about this optic nerve issue and nausea. I called a friend and asked if I should call the doctor back, knowing how hard it is to reach specialists. She encouraged me to call the pediatrician and let them make the call. I'm glad she did.
The pediatrician on call, followed up by our regular pediatrician got the ball rolling on communication with the Opthamologist and eye clinic. Apparently the fact that he was having these random and regular bouts of throwing up was of large concern and they needed further testing immediately. We were scheduled for an MRI/MRV and spinal tap as soon as they could work is in.
Matt and I have an amazing ability to go from normal to take care of what needs to be taken care of mode instantaneously. We immediately let people know so they we could arrange childcare and to ask for their prayers. We made back up and further back up plans. We scheduled out what needed to happen to prepare Johnny for his procedures and simply went into our very stoic/rock mode. I shed some tears, but knew that I had to be strong for my son. I'll write about the emotions another time.
We fasted Johnny before the procedure and arrived at Texas Children's Downtown at 2 pm for everything to get started. After many questions and a check up or two, Johnny settled in for a nap on my chest while we waited for anesthesia. They gave him gas this time which I was relieved to hear. Placing an IV in Johnny for sedation has been tricky in the past and it's just easier to knock him out and do the IV after he is asleep. I was shocked to hear how loud the MRI/MRV machine is, and we were outside the actual room. We held Johnny while he fell asleep and passed him over to the nurses and doctor that would be tending to him.
The two studies took just under two hours. The MRI looked for any evidence of a tumor that could be causing pressure on his optic nerves and the contrast for the MRV was checking his veins for any aneurism that could be pressing against his eyes. I was relieved to hear they found neither.
At this point, I believe the original plan was to leave him sedated for a lumbar puncture or spinal tap as it is more commonly known, but due to a miscommunication, they awoke him and we got caught between shifts in departments and a very long wait in the ER. I could write an entire post about this situation, but I feel compelled to leave it at- some people didn't communicate well, some people kind of left us hanging, and other people did a great job helping us as much as they could.
We were given a room in the ER while they made a plan for the spinal tap. Johnny still had not eaten since that morning (it was now 10 pm) and had not had more than a sip of apple juice at 1. We did the best we could with him, playing and distracting him, encouraging him to sleep, and simply holding him while he fussed over everything he was going through. In all honesty, he was amazing and did better than I ever would.
At 4 am they came in to do the spinal tap. I would like to devote an entire post to the actual procedure at another time, but when all was said and done, it's a good thing they did it. It was horrible and hard to watch, but he needed to have it done. When they do the tap, they measure the pressure of the fluid. Neurologists look for anywhere between 9-15 units of measure (not sure on what the measurement is), Johnny's was 31, which is higher than most adults. They also took samples of the fluid to check for infection.
Essentially, he has excess cerebral fluid that is unexplained. This unexplained fluid can and does happen, though it isn't super common. The fluid was/is causing pressure on those optic nerves which was thus creating nausea and probably disorientation. This isn't really a Down syndrome related issue, although there is a "fake version" of it called pseudopapalladema in which the optic nerves look compressed due to the shape of the eye when they really aren't.
For several hours they thought they might admit us, but decided to discharge us with a perscription that is essentially a water pill. They are hoping this decreases the fluid, but it could take 3 months to begin taking effect. We have already followed up with the Opthamologist who hasn't seen any change for better or worse, which is fine and we will see neurology next week.
At one point, one of the many medical students or residents that saw us in the ER commented on how positive and upbeat we were for 4 or 5 in the morning. Our response was simple, "For us, this simply is. We have been monitoring him and seeing specialists since he was 12 weeks inside me. It's not only what we are used to, but it is what he needs. So we do what we have to." We have a relatively healthy child, despite all of the extra attention he needs. We are blessed with him and for now, we are very glad he is healthy. There will be more to post in this arena for sure.