We had the much anticipated follow up appointment with the Neurologist today. I thought this day would not come soon enough. Ryan's hand and arm has raw spots on it from the constant rubbing across the sheets.
As I always do, I first gave the Neurologist an update on what's been happening at our other appointments. I told him about Ryan's ABR test and how it showed that Ryan has lost another 20% of his hearing. I also showed him the results of the swallow study and how they are no recommend that Ryan now not have anything by mouth due to the risk of aspiration. We also discussed "Vital Stim", which is something that his Speech Language Therapist is trained to do which might strengthen his swallow muscles. (The Neurologist has not seen it work in his patient group, but isn't opposed to us trying it and didn't think it would increase his seizures.)
Then we discussed the recent hospital stay, which he was well aware of since he had received so many calls during his vacation about Ryan. (I really appreciated that he didn't seem to mind at all.) We discussed all the spastic movements, but then he said he wouldn't call them spastic. He said they are actually "diskinetic movements." So we talked about those terms for a while and what each of those meant. I love that he explains stuff like that to me.
That brought up the phone call regarding the Niemann Pick Disease. So I told him about that. He said it would actually explain a lot. If he has NPC, it would explain the recent burst of diskinetic movement. There could be 2 different reasons for it. One possibility is that they gave him a lot of Ativan at the hospital for the seizures. Average children take time to metabolize it and withdraw from it. If Ryan has a NPC, he would have a more difficult time metabolizing it and it would take him long to withdraw from it. The withdrawal from it could cause the diskinetic movements. The other reason is that the seizure meds that we have Ryan on would not be metabolized in the same way as they would be for someone without NPC, perhaps not even in a predictable way. A diagnosis of NPC would also explain why since June we have seen such a loss of skills.
We then went over his recent tests. His Lamictal levels were
slightly high at 22. His EEG showed generally slow waves, but looked
surprisingly good. But we obviously had it on during the wrong 24
hours. His MRI didn't not show typical storage disease symptoms, but did show "a reduction in white matter, a volume loss." When I confirmed that the MRI did not look symptomatic for Niemann Pick, he said that it didn't, "But Niemann Pick is very hard to diagnose in life. It's usually diagnosed during an autopsy."
After that we discussed Ryan's medicines and how to control the diskinetic movements. He lowered Ryan's Lamictal levels and increased his Keppra levels. He then assured me that it would slow by Saturday. He said if it hasn't slowed or stopped by Saturday I can call him. Trust me, I will, too.
Now, to just make it through till Monday when I can hear what Dr. Gibson has to say.