Riding a merry go round, in a mall, in UNC. May 2007.
Dr. Escolar. I have been thinking about this appointment for a long time. She’s basically (in my mind) the woman you go see to find out if your child is going to be neurologically affected by Hunter Syndrome or not. When it comes to MPS diseases, they all have their difficulties. What I think is most difficult about Hunter Syndrome, at least in the early years, is the not knowing. With the other diseases, you have more of an idea about what you’re working with. Not with Hunter’s.
Since the day I had a grasp of what Hunter Syndrome is about, I have been thinking about Trey’s brain. Not every second, but almost. Is it affected? Is it not? What kind and quality of life are we looking at? I have always believed that Trey will be okay. I didn’t know how it would happen, but I believed. Does his brain have enough enzyme for it to work? Or will his brain find a way to work without the enzyme? Will intrathecal (injecting the enzyme into the brain…trials will hopefully start in 2008) come along soon enough to help his brain?
I didn’t know how, but I knew Trey would be okay. But that doesn’t mean I didn’t worry. Every time Trey was mildly aggressive (he’s been described as a bull in a china shop), every time he forgot part of the alphabet or didn’t respond quickly enough…every time… Trey has been doing amazingly well, so I’ve been feeling great about Trey, us, and his development, but those thoughts were always around.
And I knew we were coming to see Dr. Escolar. Until the fundraiser was over, my mind was mostly on that, but after the fundraiser, my thoughts went straight to Dr. Escolar and our upcoming appointment. I had trouble falling asleep, I dreamt about it, I thought about it constantly. Life goes on, but those thoughts are always there. And I was a bit crazy about making sure Trey got enough sleep the night before the tests so he could be on his best game.
I don’t know if it’s that Trey got under 9 hours of sleep instead of the usual 10-11, if it’s his age or if it’s the fact that Trey was asked to do hundreds of activities on demand for over 2 hours, but Trey was not overly agreeable. For parts he was fine, but he faded pretty quickly. Ryan and I were both frustrated. Then Dr. Escolar got together with her team to discuss the testing. It’s like you’re standing there knowing that the beginning or the end is about to come. Indescribable, those moments…
Dr. Escolar called us into her office and said something along the lines of: “things are looking good.” From there, I was able to listen. Trey’s speech is still quite behind and she has concerns about his head growth and mobility in his ankles and elbows, but everything else was pretty good, and some was great. Because Trey’s speech is the only aspect of his development that is still lagging behind, she thinks that this due to his hearing problems and not CNS involvement. She thinks that his speech will grow the longer he has his aides.
His fine motor skills jumped 1 years worth in 6 monthes and everything else grew pretty much what it should have in 6 monthes. Both Dr. Escolar and Trey’s PT in Vancouver are concerned about his increased limited mobility in his ankles and elbows, so we are looking into splints at night, and Dr. Escolar is also concerned about Trey’s head growth, so this is something else we are looking into.
For the parent of any other kid, these concerns would likely be huge, but based on the news we just heard, splints and a big head are peanuts right now. Dr. Escolar did not promise us anything, as she did say that she has seen another child whose development dropped closer to the age of 4, but she said that when it comes to CNS involvement in Hunter Syndrome, most kids’ development has started to drop by now. We are not freaking out yet, but we are pretty darned happy with the information we’ve been given. Especially considering we have been told that Trey will have a severe form of MPS II.
And I do believe in my heart that Trey is going to be okay. It’s just a feeling I have. It does amaze me though, how much people can live with. This has been on my mind all day long, with the exception of a few moments here and there, for the past year and a bit. But somehow I was able to go to the park, go out for dinner, play with my kids, make dinner, spend time with friends, etc etc etc. Although we always believed in Trey and knew he would be okay, it sure is nice to have it confirmed by someone who follows the development of kids with Hunter’s for a living. The weight that has been lifted is pretty amazing.