Dietitian and Neuro Appt.

We had a big day today with an appointment with Joshua's dietitian and his neurologist. 

Dietitian
Joshua's dietitian (Joy) was very pleased with Joshua's weight and height.  His height was the same and he gained about 1/2 pound since his last appt. (he is now 44.5 pounds)  This is right where she wanted him to be and she was happy with his progress.  We showed her the spreadsheet we are keeping and she was impressed and thought it was working great for us.  She wants us to continue with the MiraLax, baking soda, salt and soda every day like we have been doing.  At the end of the appointment we were talking about starting a support group for those who are on MAD at Mary Bridge because there is no such support group now.  I think there is a real lack of support for those who are on the diet (I have my online support group, but people who are not on Doose don't have that and feel very alone).  I think this may have to become one of my projects (how would I fit it in?).  It would be a lot of work, but it would be so great to put something like this together and bring the families who are on the diet together to support and help each other out.  Something to seriously think about........

Neurologist
We had a lot to talk about today and as always, our appt. lasted about an hour and 1/2.  We talked about a lot, but here are the highlights.

1. We are weaning off of Depakote - starting tonight!  As I have posted before, I have done research and found that Depakote can interact with the diet and actually fight against the diet.  So, I pushed to wean him off of Depakote to see if we can gain seizure control (e.g. get rid of the sleeping myos) that way.  It will take us 6 weeks to wean off of it and if we see any of the daytime seizures return during the wean we will start going back up.  Dr. Korol was comfortable with the wean since depakote levels are already sub-therapeutic so they are not protecting him as much as they used to (the diet caused them to go down).  I am excited, but EXTREMELY nervous about the wean.  We will be going down 1 pill per week until they are gone so tonight he had 2 pills instead of 3 (was very strange).  Please keep your fingers crossed that the wean goes well both in regards to no seizures coming back and behavior (I have heard of behavior issues during med weans before).
2. Joshua is going to be tested (via blood test) for Glut 1 deficiency.  According to the Glut 1 Deficiency Foundation, "Glut 1 deficiency is a genetic disorder that impairs brain metabolism.  Glut 1 (a protein) is responsible for transporting glucose (a sugar) across the blood-brain tissue barrier.  The Glut 1 protein is made by the SLC2A1 gene, located on chromosome 1.  If this gene is damaged by a mutation, the protein is not made and glucose cannot be transported into the brain cells.  Glucose is the primary fuel source for the brain so patients with this have insufficient cellular energy to permit normal brain growth and function."  There is no cure and the ketogenic diet is the only treatment for Glut 1 deficiency.  Glut 1 deficiency is extremely rare and is a new known gene mutation and about 5% of kids with Doose have it (although my Dr. heard at a conference that the number of Doose kids with it is actually much higher).  So, what does this mean if Joshua has it?  Not sure yet - I don't think our treatment would change much , but it might mean we are on the diet for a lot longer than anticipated and the cognitive impairments could be more severe and/or longer lasting.  But, we won't know until we get blood tested and get the results (it will take about a month after the blood test to know the results).
3. We won't have another EEG for awhile - probably not until he is seizure free.
4. Joshua has been having problems sleeping lately (he falls asleep just fine, but then continues to get up for hours on end and stays up extremely late).  We have had sleep issues before and it is common in Doose kids, but we are getting overwhelmed by it.  So, we talked about Melatonin, but was told it helps kids to fall asleep, but not "stay" asleep which is our issue.  Dr. Korol suggested sugar free benadryl (need sugar free due to diet) so am on the hunt for that (maybe I can find in a tablet - need to post question to my Doose group). 
5. We are going to start Citra K (as soon as prescription comes through) to prevent him from getting kidney stones (which is somewhat common on the diet and one of his meds can cause kidney stones as well).  We should be starting that pretty soon as well, although not too soon as I don't want to make two changes at once (weaning depakote and starting citra k) because then if the seizures return we won't know the true cause.  The trick is only one change a time.
6. When to move to Keto if we have to?  We discussed that if weaning Depakote goes well, but does not get rid of his sleeping Myos, then how long do we give MAD to work before we switch to Keto to try to get rid of the remaining seizures?  Dr. Korol suggested 3-4 months after the Depakote wean to give his body sufficient time to recover from the wean and see if MAD will take care of the rest.  So, if by Christmas we are still not seizure free, I think we will be moving to Keto.  If we wait until then it will would be 9 months on MAD. 
7. Joshua has continued to be daytime seizure free.  Today is 6 weeks with no head drops and no absence seizures!!!!.  We are still seeing about 5-10 Myos per day between his nap and when he goes to bed.  These pesky Myos just keep hanging on - so annoyed! 

I think that is it for news from today.  I will let everyone know how the wean goes - I have a lot of nervous energy going on about it!