We had our meeting with Dr Brown today, Hannah’s new neurologist. This was a followup to the EEG done a couple of weeks ago.
It was definitely a “very abnormal EEG.” But because it is mostly subclinical at this point (meaning, it is not showing visible seizure symptoms), we are not to get completely freaked out just yet. It is likely progression from the disease, which is a known process. But, at this point, we work to control her seizure disorder and lessen the amount of activity she is having subclinically.
So this is the plan. Wean her off the Haldol (which not only decreases the seizure threshold but also may increase movement disorders instead of help them). We are cutting her back from 3 times a day (0.125 mL at 2 mg/mL) to twice a day for a week, then once a day for a week, and then done. As long as there are no worsening symptoms or anything like that, we are to follow up with her in 3 months and see where we are at. If there are any issues, obviously, we will see her sooner. Hannah will also get a Keppra level drawn next week to see if she is at therapeutic levels.
We then had the Genzyme dinner meeting this evening. It was not what I expected, I have to admit. I assumed that because it was at Dr. Bernstein’s office (Childrens Cancer and Blood Disorders) that we would meet other families who had children with lysosomal storage diseases. But nope. It was all adult patients, and Hannah was the only pediatric patient. There were 3 Gaucher type 1 patients, quite a few Fabry patients, and I think 1 or 2 Pompe disease patients.
I have to admit that I felt out of place because the questions I wanted to ask Dr. Barranger and the Genzyme team were directly related to the neuronopathic form of the disease, obviously. None of these patients could relate (well, maybe the Pompe patient, not sure). There also was a time when Dr. Barranger made the comment to the group that “you will likely not die from these diseases” (Pompe, Fabry, Gaucher’s). I was like — “Um, really?!” My husband told me I was being too sensitive because Dr. Barranger was speaking to a group of people that all would “likely” survive their disease. Hannah, unfortunately, likely will not — she was the only one.
The most positive thing I did get out of the meeting was being able to meet the local genzyme team, especially our case manager, whom I just adore! One thing I can say about Genzyme …. since day 1, every single person I have been in contact with has been very caring, supportive, and understanding. Even during the fiasco with the Cerezyme shortage, the people I came in contact with were all sympathetic, even when their hands were tied.
I did make one suggestion to the Genzyme team that I will definitely follow up and expand upon. There needs to be a way for type 2 and 3 families to be able to have their own information meetings, contacts, etc. There are not enough of us in these metro areas to have physical meetings, but I was thinking maybe every 6 months have a web conference where patients’ caretakers can ask questions of genzyme, experts, etc.
One of the local reps suggested I created a Yahoo mailing list — been there, done that — 2 years ago! The problem is that unless someone is somewhat internet savvy looking for info, they will never find our mailing list. We need to be proactive more than that. So that will be one of my ‘things to do’ in 2011.
First and foremost though, getting this seizure disorder under control before it starts to manifest into something more dangerous, especially having clinical seizures.
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