On Tuesday, it was time for Jacob to be seen in the Mitochondrial Clinic at Children's Hospital. As we were sitting in the waiting area, we were all thinking it would be a 1-hour appointment, but it turned out to be a 3 (!) hours appointment. We all felt fried when we finally were done.
Dr. C, who is also Jacob's neurologist, started out by talking about Jacob's latest EEG. We typically don't do EEGs for Jacob any longer, since we know they are abnormal. This one was ordered as part of his recent sleep study. The interesting thing was that Jacob's EEG had changed quite a bit since the last one. The last one showed seizures spiking from all parts of his brain. This one shows a steady spiking of seizures throughout his night. It is called ESES, and it basically means that Jacob is in status epilepticus all night long with subclinical seizures. We would honestly never know. Jacob's sats are great, and he is in deep sleep. ESES is scary, and not something you would wish on anybody, but having endured 11 days with Jacob being in status epilepticus with clinical seizures that you can see all the time, this still is better. The treatment for ESES is valium or benzos, and since we're just embarking on moving Jacob to a new benzo, the timing is good. And on our question if this is better or worse for Jacob, the answer from Dr. C is that it's like comparing apples and oranges rather than better or worse.
Jacob has now been on Clobazam for 2 days. We're introducing it slowly, slowly, and it is going to take 4 months for us to get rid of the 3 medications we are going to remove, and be on a full dose of Clobazam. We're hoping it will be a smooth ride, but it's definitely a major medication change for our little guy.
After we got done with seizures, it was time to start talking about Jacob's mitochondrial disorder and where the current research stands. Jacob's Belgian metabolic doctor specializing in mitochondrial disease took over. He is like a little exciting boy when he gets to start talking about the ins and outs of mitochondria. I love his enthusiasm and intellect. He wants to prove that the cause of Jacob's mitochondrial disorder is in the translation of his mitochondria, basically something is going wrong when the mitochondria is translated into energy. He wants to find the gene that has caused this for Jacob, and he will use the last bit of muscle that is left from Jacob's muscle biopsy. He also wanted us to enroll in a study that will sequence all genes, hoping to be able to find the gene that is causing Jacob to have mitochondrial disorder. In order to enroll Jacob, Joakim and I had to roll up our sleeves to get our blood drawn! They already have enough DNA from our little guy.
For us, I am not so sure it truly matters if they can find the gene that is making Jacob to have mitochondrial disorder, but we're all for helping other families and it might be good information for Sarah one day.
It's exhausting to talk about Mitochondrial Disease, and your child's disease for 3 hours...I felt completely wiped out after the appointment, even if it was a great one. It is good that we will only be seen in the Mito Clinic every 6 months.
So, after a full day of breathing and living mitochondrial disease, Jacob simply gave us the best gift. He started to bat a balloon all on his own again! This is a skill he lost after being in status epilepticus for 11 days exactly 2 years ago. So to see it with a happy smile from Jacob, brought laughter, joy, and excitement to our home on yet a snowy day!
Much love,
Maria.
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