Johns Hopkins Trip.
To get right to the point it was as great trip and the Doctor was awesome. After having a doctor that is a bit overwhelmed and doesn’t listen all that well here in KC, this experience was a polar opposite. I’ll say more about that later. The long and the short of it is, He is not 100 percent positive that Gabriel has Doose. He basically feels like he has some of the elements of Doose, but also some of Dravet’s syndrome which is a more severe syndrome with a bit more disappointing potential outcomes. But there are also some things that make it unlikely to be Dravets, for example, he was a little surprised that when Gabriel has a fever he doesn’t have seizures. Dravet kids have tons of seizures with fever or even with excess heat. So basically he just said that its hard to tell exactly what it is. He said that sometimes younger kids with Doose don’t respond as well to the diet and it can just take some time to kick in. We weren’t really surprised by any of this. We’ve been bracing ourselves for the reality that we might not get to seizure freedom like we had hoped when all this started, and particularly when we started the diet. He confirmed that we have been doing everything we can to maximize the benefit of the diet.
He recommended several things. One, he suggested that we try some intermittent fasting particularly when the seizures are really bad. He said that in his experience this has had some good effect with some of these kinds of cases. Second, he suggests that we begin trying to wean medications. This is for two reasons. One, he felt like G seemed overmedicated and that some of his developmental delay issues are likely related to the amount of drugs he has on board. So he suggested that we start weaning the most “potent” drug he is on.
This will tell us one of two things. If weaning the drug had little to no effect on the number of seizures (i.e. they stay the same in number and intensity), then we know that the diet is doing the heavy lifting on the seizure reductions we have seen so far (about 50-75 percent lower than pre-diet). If his seizures spike, we get a clue that the diet may not be doing as much as we had hoped, and that the drugs are the thing helping the most.
All in all fewer drugs is better as long as we don’t see a spike in seizures. So that’s what we are going to try next. It will take 6 weeks if everything goes perfectly to wean the first drug. Then we would do a second, and a third. Given our track record were not really expecting things to go perfectly so it will likely take longer than this. If the seizures spike we may stop or reverse the drug wean and try a different one. So that’s what we know for now and that is where we are headed. Oh and he wants us to get another EEG to see how the diet has effected the EEG results since we haven’t had one since may.
As for the visit itself. There couldn’t be a more stark contrast from our current doctors. Johns Hopkins is world class, everything was smooth and well organized. Instead of having a nurse call you in and weigh you and then put you into a room to wait for 20 minutes, the Doctors themselves come out and call for the patients and stay with them the entire 1 hour appointment. He asked a ton of good questions, listened to us, etc. Also the dietitian was in the room the whole time and you could tell he respected her and turned to her for information that he didn’t have etc. Finally when we left he made sure we knew we could contact him by email (yes email) if we had any further concerns or questions etc.
I wouldn’t say we got great news, and we weren’t expecting to have some sort of miraculous game changing answer. We do feel good to have a solid plan with clear next steps – something we have had on hold for a while, but mostly we recognize what a difference good communication and bedside manner mean to dealing with Gabriel’s illness.
Thanks for all your support and continue to pray for our little man on the Journey. In many ways we have become resigned to the fact that this is and always has been entirely in God’s hands.