We met with the neurologist, did some testing including another EEG. The neurologist that we saw was convinced that B would grow out of the seizures, as a lot of kids did. We needed to keep him on the medication and once he went a year seizure free we could take him off the medication. Easy peasy. B went 3-months seizure free! I was pumped, even if he had to be on medication for the rest of his life it wouldn’t be that bad. He could lead a normal life when he was older! B seemed to be doing ok on the medications, except for the fact that he wasn’t talking. The neurologist thought the delay could be seizure related but she was confident it would come with time and effort. So, I put the effort in. B and I attended speech therapy 2 times a week, I bought every game and book to encourage speaking. I ordered preschool lessons because if anyone could get him to speak, it was me. He could say a few things, he had his own vocabulary. “Bo” meant no, “wah” meant water “eehee and Boos” meant horses and cows. He would say “owbie” when he was hurt or in pain, that was always my favorite. We worked and worked on his speech, I remember the day at speech therapy when he finally said the word “BUBBLE” I cried, I’m pretty sure the speech pathologist cried. It was a small victory, but a victory non the less!  That one little word gave me such hope. I was such a sucker.

Brady’s seizures came back with a vengeance. Not only did they increase in quantity, they increased in severity. He went from having 1 seizure a month, to 3 months seizure free, to several seizures a week. They were changing from just generalized tonic clonic seizures (convulsive) to focal seizures (absence) and complex partial seizures, or combinations of all 3. The seizures that only lasted 45 seconds were no more, now his tonic clonic seizures were lasting anywhere up to 14 minutes.  His rescue medications rarely worked, and after we gave them to him, he would have paradoxal reactions and would scream non stop for 12 hours. The Neurologist increased his medications, added different medications but nothing was working. She was still convinced that he would grow out of it. But I knew there was something seriously wrong. He was starting to develop a tremor, he was stumbling and falling a lot more. He was having episodes where he would be standing or running, and it looked like someone 2 hand pushed him as hard as they could. He had so many injuries from these episodes, so many cuts and bruises, he even broke his collar bone twice.

We needed answers, and we weren’t going to wait to see if he was going to grow out of it. We took B to the Mayo clinic in Rochester Minnesota in June of 2012. They had to be able to figure this out. They did every test possible on Brady, MRIs, heart ultrasound, abdomen ultrasound, blood work, and an EEG. All the tests came back “unremarkable”. The only test to show any sort of abnormality was his EEG. It showed that when you flashed lights in his eyes he had “activation” which was a spike in his brain waves that could cause a seizure, but he was showing no physical signs of seizing. So that was chalked up to interesting, but nothing came from it. The Doctor at the mayo clinic told us to start taking B to a special needs playschool to help with his severe speech delay and referred us to an epileptologist back at the Alberta Children’s Hospital, and suggested the ketogenic diet to control his refractory epilepsy. Refractory epilepsy just means seizures that cannot be controlled my medications.

So back to the Alberta we went. We registered B in the Aspire school for special needs in Red Deer to start in September and got an appointment with an epileptologist at the Alberta Children’s Hospital (ACH).

I wasn’t sure how our first appointment with the new Dr would go. The last few doctors that we had seen had really been no help, but we were willing to try anything. The appointment started very typical, going over B’s past medical history, doing a physical examination, and then discussing the possibilities. The room we were in was very small, and there were no windows. B was getting restless as we were talking, and he started playing around the room. He went over and shut the light off. The room went pitch black, so we felt around to find the light. We turned the light on, and B’s head snapped back and he fell to the floor. The Dr looked shocked. We all did. That was the first time I had ever seen B react to light. The Dr then asked us to hold B as he turned the light on and off. Every time the light turned back on B’s head snapped back and his body went limp. It came to our attention at this appointment that B was having more seizures than we had originally thought, along with the tonic clonic, absence and partial seizures he was also having atonic seizures (drop) and myoclonic seizures. Dr. Bello had seen this before. He said it was possible that B had Doose syndrome told us that the ketogenic diet was the best option for treatment, and he booked us in the next month to start the diet.

The Ketogenic diet is not an easy diet to administer, its not a healthy diet to eat, but I would do anything to help. Before B went into the hospital to start the diet I read as many books as I could find, I had to go into the ACH to learn the keto calculator program with the dietitian. I had to purchase a very precise scale and supplies like sword toothpicks and special sweeteners to help B eat and hopefully enjoy the diet a little bit. The diet is a high fat low, low carb diet used to treat epilepsy that cannot be controlled by medications. It works by producing ketones when the fat is burned, and ketones suppress seizures.  To start the diet B had to have the electrodes glued to his head, and an EEG preformed before starting to fast for 24 hours. I went into the hospital that morning hoping for a fresh start. Hoping this would be just what B needed. Unlike routine EEGs which follow the pattern of getting the electrodes on, trying to fall asleep, sleeping for 20 minutes and then being woken up and then having lights flashed in your eyes, this EEG just involved getting the electrodes on and lights flashed in the eyes, as he was to be recorded for the next 96 hours. B was always so good about letting the technicians put the electrodes on, even though the glue smelled terrible and they had to blow cold air on the glue to dry it. I was also so proud of what a brave and cooperative boy he was. The technician started the EEG and got the light ready. With every flash of light B was having convulsions. I had never seen anything like it. I had seen hundreds of convulsive seizures by that point, but never ones that could be forced by a light. The technician was shocked by how violently the lights affected him. She went and got another technician to help hold colored filters in front of the lights to see if there was a certain color that would stop the seizures. There wasn’t. I stood there beside B as they tried color after color, flash after flash only to find that none of them worked. It was scary and hard to watch. I understand that the needed to get more information about the photosensitivity, but they were causing my son to seize and I had to say that it was enough. They agreed and we were sent up to the unit. A little unsettled by the EEG earlier I was still excited to start the diet. It had to help. Later in the Day, after The Dr had a chance to go over B’s EEG he came up to the room. I will never forget the words he said. He told me I had to prepare myself, that its possible this could be one of the worst of the worst epilepsies. He wasn’t sure which one yet, as the EEG showed signs of 3 possibilities. He said we needed to do more testing to figure it out, but it would take a month to get approval for funding before we could do the tests. A month was too long, so we paid out of pocket to get B’s genetic testing done. So that day a skin biopsy was taken and a few vials of blood that would be sent away to Boston for testing. We started the diet and were still hopeful for some success for the seizures. We didn’t get the results we had hoped for. Once B was producing a therapeutic level of ketones and was able to stomach the diet, we were sent home. The day after we got home B had 13 tonic clonic seizures, and back into the hospital we went. I am not sure why he had so many seizures. We spent another few days on unit 3 and once his seizures settled down we were sent home again, still on the diet. Still hoping for miracles. 2 weeks passed, I spent 2 hours every night preparing B’s food for the next day. A typical meal for him would be 1 piece of deli ham rolled up with mayo and a small amount of shredded cheese, cut up into bite sized pieces and speared with a sword tooth pick, 7 small cubes of watermelon and 46 grams of 38% whipped cream sweetened with a small amount of flavored stevia. I was still driving B back and forth to school in Red Deer every day, and the school was so amazing for helping with the diet and making sure he didn’t eat anything that wasn’t in his lunch, keeping track of how much water he drank, and following the other strict rules of the diet, like no playdoh or lotions that were not provided by me. Poor B, I felt so bad, I remember driving through Red Deer to school, passing McDonalds and hearing this little voice from the back of the van saying “umm numms, umm numms” He just wanted a French fry! And I couldn’t give it to him. But it was what was best for him, if the diet could help with the seizures than it would be worth it.

Then I got the call. The one I had been waiting for and dreading all at the same time. It was Friday, November 9, 2012 around supper time. I saw it was a number from the ACH so I answered it immediately. It was Brady’s Dr, he said “I didn’t want you to go another day without knowing, but we got the skin biopsy back, it was positive for Late Infantile Ceroid Lipofucinosis (Battens Disease).” He didn’t give me any more information than that.He told me to come in on Monday to meet with the geneticists to learn more about the disease. I couldn’t wait until Monday, so I googled it like any mother would.