It was off to muscular dystrophy clinic today with Addy. Our first experience turned into one I will never forget. The expectation was to go and see several people (neurology, dietician, OT, PT, orthotist, nurse practitioner, genetic counselor, and equipment vendor). I expected to not have much to say to everyone other than neurology. We are already followed by many of the other specialties, so I was anxious for the neurology piece to get the results of the 24 hour EEG, talk more about the Klippel-Feil diagnosis and discuss what are next step is going to be in order to figure out what is going on with her muscular wise.
Well, neurology couldn't have come at a better time. Just as we finished talking with everyone else, the neurologist walked into the room and BAMMMMM........Addy had another seizure. This was only her second one since the one in March that was presumed to be fever/viral related. I was absolutely stunned at the fact that, first off, the seizure was occurring in the first place and secondly that it was occurring with a neurologist standing in front of me. I guess if it's going to happen, there is no better time or place.
The seizure looked much like the first one.....blue lips, difficulty breathing, complete tenseness in her body, urinating herself, but eventually coming out of it okay and somewhat alert. Surprisingly, I was very calm this time around, I think because I had the doc standing there with me. Addy then fell asleep and we proceeded to talk. The EEG did show spikes in the frontal lobe area of her brain. This means that she has the potential for seizures to occur. Before the doc came in, his decision was to not start her on meds unless another seizure occurred. Well, we are now on meds. We are starting out on Trileptal with is a med given for partial seizures. Not too many side effects, just some possible drowsiness until she gets adjusted to the meds. The odd and interesting thing is that several days before the occurrence of the first seizure, Addy's speech changed and stuttering began. Over this past weekend, we noticed a change with her speech again. She was having difficulty talking and Aaron and I both noticed and mentioned it to each other. The speech change wasn't as drastic as the first time around, but there was a noticeable difference. I guess this will now be a warning sign for us.
The diagnosis of Klippel-Feil has been confirmed for sure, but the doc also thinks that there is definitely something else going on related to her muscles. The recent EMG came back normal as well as the blood test to test for dystrophy. Therefore, a dystrophy of any sort is ruled out......thankful for that, but we still don't have answers as far as the muscle weakness is concerned. Next step.....muscle biopsy. This is a procedure in which she would have to be sedated and they would actually cut a piece of muscle out of her leg to biopsy. The neurologist thinks this may be the only way to find out what is really going on. Will it change how we treat her and work with her therapeutically.....no, so with that being said, the decision now lays in our hands as to whether or not we want to go through with it. I'm torn about it. I want to know and I think it's important to have the answers for our family history, but I also don't want to put her through the procedure as I hear it's not pleasant. We will continue to talk and eventually make a decision.
We also had so many other things come out of the clinic today, but I will spare you the details as not to bore you. Maybe those will come about in another post.
So, now we adjust to a new kind of "normal". Just when I thought we were getting answers and things we going to settle down before the baby, we are hit with one more thing. All I want and pray for is that we can find this new "normal", deal with it, control it and stop finding new things.
I will leave you with a pic of "like father, like daughter"