Where we're at now

The past few months have been a roller coaster ride. Mason finished the ACTH steroid injections right before Christmas.  The injections were supposed to 1) stop the spasms and 2) clear up the hypsarrhythmia. ACTH is a first line of treatment for Infantile Spasms (IS) and it's effective in treating many children. The steroid injections had horrible side effects but they got rid of Mason's spasms.  However, an EEG showed that Mason still had hypsarrhythmia (hyps for short), so we started to wean him from the steroids and went to plan B.  As we started weaning him from the ACTH his spasms started coming back. The hyps is the horrible part of infantile spasms. Hyps is what keeps Mason from developing mentally and learning new things. The spasms on their own don't cause harm but they are an indication of hyps.

After the EEG still showed hyps we met with Dr. Moosa and talked about Plan B which is the medication Sabril. Sabril is also a first line treatment for IS and is popular because it doesn't come with the annoying side effects that steroid therapy does and it's still very effective in treating IS. However, Sabril does come with a rare but scary side effect: peripheral vision loss. We have to take Mason to monthly ophthalmology appointment while he's on Sabril and I had to sign a paper stating that I couldn't sue the pharm company if Mason goes blind... Dr. Moosa assured me that he's never seen a child lose their vision while taking Sabril but it still scares me. He told me that chance of vision loss is better than IS.

Mason started Sabril right before Christmas. After 3 weeks he got to the therapeutic dose so he got to go in for another EEG.  The 3 weeks he had been on Sabril he was having spasms so I wasn't hopeful at all that the EEG was clear of hyps.  Right after the EEG I met with Dr. Moosa and he gave me the results that the EEG hadn't improved at all, and we had to go with Plan C. Plan C is increasing Sabril to the max dose.  Of course increasing Sabril to the max dose is scary because it increases the chance of vision loss even more, but it still has a good chance at getting rid of hyps.
Dr. Moosa also delivered the bad news that ACTH and Sabril work for most children, but since ACTH didn't work and Sabril hasn't worked yet the chances of other medications being effective are low. We still have hope though, and we won't ever give up until we find something that works. Mason gets another EEG in 3 weeks to see if increasing Sabril has worked. The good news is that since increasing the Sabril dose Mason hasn't had any spasms! I'm always cautious about not getting too excited though because the spasms can still come back at any time, but we're at least hopeful. If Sabril hasn't cleared up the hyps in 3 weeks we're onto Plan D.

I'm actually pretty excited about Plan D.  Plan D is the Ketogenic diet. The ketogenic diet is a high fat, no sugar, no carb diet.  The ketogenic diet makes the body have to use fat for energy instead of sugar which reduces seizure activity. If you want to read more about how it works read this article: (http://www.hopkinschildrens.org/high-fat-diet-can-reduce-of-end-debilitating-seizures.aspx).  It sounds pretty simple but the diet is very strict because any sugar even in medications and fruits etc. can start seizures again.  To start on the diet Mason would have to be hospitalized for a week.  His blood sugar levels have to be checked regularly and a dietitian has to make sure he's receiving enough fat for his body to reach ketosis. The ketogenic diet is proven to treat seizures, and many children on it are able to stop taking other seizure medication because the diet alone is so effective.  How awesome is that!?! The diet isn't as popular as medication because it's so difficult to monitor everything the child eats, and they don't have many options (butter, cream cheese, whipping cream etc). It makes sense that tube fed children are the easiest to put on the diet because there's a formula that they can get through the tube that's ketogenic.
I don't want to have to think a lot about Plans E, F, G or H yet but I have a little bit. I'll leave that for another post.

We got a fun surprise while we were in the hospital last week, Dr. Moss (geneticist) came and saw us and gave us the results of the epilepsy panel that Mason got drawn just before Christmas. We weren't planning on seeing him until the end of March, but his wife was Mason's hospital pediatrician and she told him to come see us.  In short the results were that a misspelling of a gene came up and 2 other kids with that same misspelling have IS. Casey and I got out blood drawn while we were at the hospital so we can be tested and see if we have the same misspelling.  If we do, the gene isn't important because Casey and I don't have epilepsy. If we don't have that misspelling then Dr. Moss will delve deeper. The hope is that this gene can give us answers on what treatments could be effective. On the other hand, there is still the chance that Mason suffered brain damage at birth from lack of oxygen, but that's another post too.