When I fill out medical forms that ask me for Connor’s diagnoses, I write tuberous sclerosis complex, epilepsy and developmental delay. As of Friday, I will now write autism
When Connor was first diagnosed and we read all the possibilities that could possibly come with TSC, autism terrified me the most. I really didn’t understand it. I’d worked with kids with varying degrees of autism in the classroom, some of whom I was not remotely equipped or provided the training to work with and others that were favorites of mine. But I was terrified of the word. I thought that if the day came that we received that diagnosis, I would jump out of a window.
Two years changes a lot.
I can’t say it came as a total surprise. I refer to some of Connor’s behaviors as “quirks.” I guess I was just hoping they could stay “quirks” and not become a diagnosis.
We went to Boston for his two-year visit with the TSC study. It was a low key visit since Chris and I had both caught Connor’s cold from the week before and were not particularly energetic (and why I didn’t get in touch, Ann–we’ll be back next Feb!). We also had an appointment with the Boston TSC Clinic. Even though I suspected deep down that this day was coming, I didn’t actually realize it would be Friday. The study had sent his results from the autism scale given the day before to the doctor. The words “Connor has autism” were never actually spoken. We were discussing some of his behaviors and suddenly we were talking about therapy options in addition to what he already receives. An education specialist was brought in so she could help us find local resources and I found myself saying, “So this is it? Is this an official diagnosis?” It was. But the sooner the better and we now move forward.
We also finally got a little more detail on his MRI. It wasn’t as specific as I was hoping for, but we do now know his brain has somewhere around 20-30 tubers, probably closer to 20. They are scattered throughout. I thought he had two SENs in the ventricles of the brain, but he actually has three. However, they are so small that they are nowhere near being classified as a SEGA (which can block fluid in the brain and require either surgical intervention or use of Afinitor or Rapamune) and therefore aren’t currently an issue (and hopefully never will be).
I’m sad that we only have one visit left with the Boston study. I really enjoy going up there. I think I could actually live in that city in spite of the cold and that says A LOT. I was really touched by the fact that while we were there, non-stop coverage was being given to the deaths of two firefighters and who they were. It gave the city a close knit feeling and reflected a genuine interest in the loss of two heroes. It’s not something I’ve ever seen in the 20+ years I’ve been in Atlanta, where we just get the 6 p.m. death count.
These are the only photos I took which tells you how off I was this trip.
namely, Where was Cliff parking the mail truck when he went to Cheers? Having gone there on this trip, I’m not sure I buy that he was hanging out in a place that is so expensive to park.
At any rate, when I last left you I had gotten food poisoning in D.C. The next morning, Friday, I felt much better. No stomach pain, still off, but better. Once again I had cured myself in a day. And we wouldn’t even have to cancel the next day’s trip to Boston. Oh, oops. Fooled again, but went to Boston anyway. When I get to travel I can power through. Had we been at home, I’d have milked the bejesus out of the situation. But I lived. And lost a couple pounds.
This trip we extended for pleasure. We flew in Saturday, but weren’t needed by the study until Sunday night. We spent Saturday afternoon checking out Boston University since it was only a few blocks from our hotel. There was some sort of regional track meet going on and runners were there from several schools. In fact, some were staying in our hotel. Yeah, you know what’s coming. I officially crossed into “old.” I am no longer the one keeping people awake. I am now the one calling the front desk at 3 a.m. to report “those durn kids that just won’t keep it down.”
Sunday we went to check out Boston Common and the surrounding area. I was disappointed that all the water was drained and ruined my photo op. We came upon the cemetery where Paul Revere is buried. Too bad I’m not teaching anymore. Since for some reason the state of Georgia thinks he warrants six weeks worth of social studies unit (I’m not saying he isn’t history-worthy, just not six weeks worth), I could have used this photo when struggling for material, perhaps made up a story about digging him up at midnight and running through the streets screaming, “The zombies are coming!”
Most importantly, we went to Cheers so I could have a beer. I went to Boston when I was 16 and couldn’t drink. It felt so wrong to go to Cheers and not have a beer, so I finally fulfilled that ridiculous dream, in spite of my funky stomach.
When we had free time, we also checked out Chinatown, and we went to dinner at Ann Davison’s house, one of my former co-workers who moved to Boston last summer. This is the view about a block from her house:
Back to the TSC study, which is the reason why we were up there–Sunday night (at 10:30!) we had to take him for an MRI. Since it’s for the study, it’s not sedated; it’s a sleep MRI. All my MRI knowledge comes from watching House. Remember those scenes? A person is in the tube and the doctors talk to him while he lays inside. Everyone shares deep thoughts, the doctors discover secrets about one another, and House has an unrelated epiphany and runs out. Turns out that television does not portray things very realistically. I wasn’t worried about getting him to sleep. That was a piece of cake. The problem was that since we had to stay in there with him, we were given ear plugs. Paranoid much? 45 minutes of whirring is gonna destroy my hearing? Please. Chris maybe. Took him three days to get his hearing back after I dragged him to Lady Gaga.
It turns out that an MRI doesn’t whir. It’s more of a cringe-inducing series of mechanical groans that reminded me of Ripley trying to blow up the spaceship in Aliens. So he woke up. We stopped, put him back to sleep and started again. He woke up. We stopped, put him back to sleep and started again. He woke up. We stopped, put him back to…well, you get the idea. Eventually we called it quits and decided we would be opting out of this portion of the study. I want to help, but you’ve got to be kidding me. One of the techs even crawled in there with him at one point to calm him.
We also had two days of testing, some of which were the same as what he did on his first trip. It was really great to watch because he has improved so much since last time. Plus, the last time he had two seizures, so he wasn’t to into it. We still haven’t seen a seizure since February 10! He was engaged, cooperative, and the difference was awesome. The only problem he really seemed to be having with the testing was that sometimes he was too busy flirting with the ladies administering it to do it. I looked forward to hearing how the scores would show how much better he was. Finally, the big reveal! And the scores show….regression! Regression? WTF. How is that possible? Here is why. The Mullen Scale is bullshit. Last time we were there, due to the seizures he got sleepy and some had to be completed by parent report. They no longer do that, which is understandable as I see how it could inflate scores. So this time, it had to be done in front of them. Yet, he can do more! How did he regress? Last time he could barely sit, and this time he sat the whole time! Well, the way they score it is that there are a series of things he must do to be scored on. If he doesn’t perform one item, they stop. So when they got to the item where he is supposed to lay on his stomach and reach for an item, he insisted on just rolling over every time because he hates being on his stomach. Therefore, he didn’t get credit for that, nor did he get credit for the following item. SITTING. I don’t know what items came after that, but he didn’t get a chance at those either. So he was rated at a 4-month level in motor skills. He is delayed, but he is NOT at a four-month level. So clearly this test isn’t going to be particularly helpful for our personal purposes. I’m happy to have him in the study and I like the ladies in charge, but the Mullen and I are not friends.
Connor’s physical therapist about flipped when I shared this with her. The Battelle test she uses on him requires three fails in a row in an area before you move on to a different section, not one. So while I had already dismissed the Mullen as a load of crap, her agreement made me feel even better. Some kids have splinter skills. Meaning they may lack a skill that should have come at an earlier age, but they have developed other skills that are more advanced. Connor is such a case. He can sit fully independently, maintain a standing position for at least a minute holding the couch, and as of his most recently PT session, he can also maintain a crawling position for a minute (we just gotta get him moving).
We also took the opportunity to have him seen in the Boston TSC clinic. Dr. Sahin looked him over and we did the Woods lamp test for the first time. Skin involvement is common in TSC, but Connor doesn’t have anything particularly noticeable. He did have some small raised white spots on his legs I suspected were TSC related, as well as a tiny white spot without pigment, but nothing I would have thought much of were it not for the TSC diagnosis. Dr. Sahin confirmed the little white bumps were tiny little shagreen patches, and the lamp revealed some other de-pigmented spots not visible to the naked eye. Nothing that really phased us. Perhaps there is a benefit to the possibility of him inheriting my pasty skin rather than Chris’s ability to tan. His white spots will be less noticeable. He also looked over the MRI that was done right before Connor’s surgery. He said he was too young for it to be a great MRI, but he did point out some tubers, and the SEN’s Connor has were very, very small. SEN’s are the brain growths that have the potential to grow and become SEGAs which can be very serious, needing surgery or the drug Afinitor, so it was good to hear his are particularly small. His social area of the brain also looked good. Connor will have his annual clinical MRI with them next time we go in August. We should be able to tell a lot more about what areas are affected then.
We cut our trip short by a day due to the storm that was supposed to hit. Naturally, that meant the storm ended up being downgraded. You’re welcome, Boston.
Random thought for the day: I think Connor should have been the e-Trade baby.
Living in Atlanta, loving travel and watching my son kick tuberous sclerosis complex's butt.