Makenna got her second cast on Thursday, Feb 4th. Her out of cast x-ray was 21 degrees. She was cast at zero again. While that is promising, we still don't know what the lasting results will be. Her doctor is concerned that the scoliosis may be neuromuscular. I am not entirely sure about that at this point and have asked many questions in many directions to get some clarification. If it is truly neuromuscular, the likelihood that the casting will correct her curve decreases.
We just returned from Boston this evening. Our experience in Boston was very worth the trip and the wait. I am still letting all the information settle in...
When we first got our confirmations for the appointments, they were scheduled for 30 minute increments - one at 12:30 and the second at 1:00. The other two families we scheduled similarily. Although we were told we would probably be there longer than that, we had no idea what we were really in for. As families, we were able to meet the day before and get to know one another and share stories and experiences. We all have travelled such a long road to get to this point, and have become quite jaded along the way, that, although, we had hope, we weren't holding our breath. We were hoping we would get some answers, clarification, more understanding, and a doctor to finally look at the big picture and piece it all together. Well, they were certainly willing to take the time to do an indepth assessment. We were called back at 12:30 on the dot and left the hospital at 5:00 pm. No rush visit here! Now there was some moving around and waiting... up to neurology, waiting for eyes to dilate, Makenna fell asleep, then got cranky and needed a break - so we took a walk to the lobby... but all of this was OK. I was told repeatedly, that they had set aside their entire afternoon for us. That's what they were there for and if Makenna needed a break, she should take it :) We'd resume later.
I can't even explain what a relief it was to not have to first explain what HGPPS is to the doctor seeing my child. The fact that Dr. Hunter (opthalmology) and Dr. Engle (neurology) have studied HGPPS in depth, was such a comfort to me. Each doctor had fully reviewed her file before we arrived. They were both surprisingly familiar with the details of her history (and they didn't need to constantly look at the notes). That was very impressive to me and showed they had a great deal of interest in her medical diagnosis. They did a full eye exam and a full neurologic assessment. Dr. Engle, the neurologist, was present for the eye exam.
After they both had a look at her, we then met for an overview of their findings. There was some shuffleing around from room to room throughout the afternoon, and this next part is mostly due to circumstance, but it makes the story sound so much better... I actually sat in a Dr's office to discuss my daughters medical condition. Not the examination room, but an office...the kind with a desk and chairs! I know it sounds silly and really doesn't make the information you recieve any different, but it adds to the feeling that Makenna was important to them.
Makenna and I sat with both Dr Hunter and Dr Engle and went over the findings. We will be recieving a written copy of the report, so I am sure I will have more information later, but for now what I remember is that she does have a horizontal gaze palsy, her MRI is consistent with findings of HGPPS and they recommended we do a blood test to send for confirmatory testing.
The implications of the diagnosis are really very limited. The gaze palsy cannot be fixed, but cannot get worse. The scoliosis is the only issue and we are dealing with that. Basically, what happens is that below the level of the pons, her axons do not cross midline. That probably isn't an accurate description... but it's the best I can do. In normal people, the right side of the brain controls the left side of the body and vice versa. That's not the case with Makenna. Her right side of her brain controls the right side of her body and vice versa. Everything above the level of the pons is still 'wired correctly', which is why there are no cognitive problems associated.
Obviously, I have much more to learn about HGPPS, but I am confident I will learn it. When I expressed to Dr. Engle that I was sorry if I was giving her too much information or asking too many questions, I explained that I was worried this was going to be my only chance to get concrete answers and I didn't want to blow it! She told me not to worry, that this would no doubt be an ongoing conversation. Again, I felt in good hands.