Before Noah was diagnosed with hydranencephaly he was a very unsettled baby and screamed - a lot! It wasn't just a normal baby cry, but a really high pitched scream - like something was really hurting or wrong. When he was diagnosed at 9 weeks with hydran we were told that he was screaming because he had a lot of cerebral irritation. This was because he was having seizures that we didn't recognise as seizures- things like a funny type of 'yawn'. This was Noah at about 6 weeks old. If he was awake this is what he was like. He hardly ever slept and we dreaded him waking up as we knew this is what he would be like just after he woke up. As soon as he was diagnosed with hydran and also with epilepsy Dr B put him on a medication called phenobarbitone. Within 2 days he was a totally different baby! He was so relaxed and happy and even started smiling and acted like a 'normal' baby - for a little while at least.
Seven and a half years later not much has changed! He can have months in a row where he can be quite settled and happy, and then he can have many months like this - all from having so many intractable seizures. It's the one thing with Noah that has been the hardest to treat. If he didn't have such trouble with seizures his life would be so much more comfortable.
We now know exactly when he has had a seizure - although most people wouldn't even notice them. Sometimes it can just be quick turn of the eyes and/or head. He always prefers to keep his head to the left, but when he has a seizure his head and eyes will go to the right. These are called partial or focal seizures.
Other times he will actually break out in a smile or even laugh. I like those the best! I came across this old pic from three years ago when he was obviously having a seizure. How cute is Jay and Harri!!
There are times when the seizures are a lot more obvious and anyone would notice them. These are called tonic seizures and he will stiffen his arms and legs and his face will go very tense and he will breath funny.
Since the heat wave last week, something has changed and he is having a lot of seizures again :( He was going really well for a couple of month and things had settled right down. Today he has had another day of being very unsettled. It's easy to tell that it's all brain related because of the type of yelling he is doing. It can be very draining listening to it all afternoon.
Many other kids with hydran do have seizures, but Noah seems to be one of the ones who has more trouble than most with them as they are very hard to treat. We have tried pretty much every anti-convulsant possible including epilim, lamictal, diazepam, phenobarbitone, frisium, clonazepam, dilantin, neurontin, vigabatrin, topomax, topiramate, midazolam, trileptal, klonopin, tegretol, and keppra - I'm sure I have forgotten one or two.
Usually we find a combination of two or three that work 'well' together - well enough to settle Noah down and not be so irritable, but never enough to stop the seizures completely. He has probably only ever had 5-10 days in his whole life where he hasn't had a seizure.
We are forever going back to the Dr to fiddle with doses or to change a medication completely as they often seem to work for a few months at a time, and then he gets used to them and things change again. I'm hoping that's not happening at the moment as I really don't want to change medications again as it is a long process trying to find something that will work - as nothing ever really does for very long and when you have already gone through all the meds, there are not really any other options but to try them again.
One thing that we tried three years ago was the ketogenic diet. Noah and I went to Melbourne to the Royal Children's Hospital to see a neurologist who witnessed him having a seizure (good timing Noah!), and said he wanted to do some tests and possibly trial the diet. The ketogenic diet is a high fat, low carb diet which gets the body producing ketones - which is when it is burning fat constantly - like when someone is fasting. Drs aren't sure exactly why it works, but for some people when there body is producing ketones their seizures can be decreased, as it makes a change in the brain.
We went over a few different times and the second trip was so Noah could have a 24 hour video EEG done. Everytime he had a seizure I had to press a button and it was also being recorded on video the whole time. In this pic Noah is actually having a tonic seizure.
From the video and recordings of his seizures on the eeg the Drs decided that he was having different types of seizures - focal, tonic, myoclonic and absence. The neurologist said he didn't know for sure, but he probably has a type of epilespsy called Lennox-Gastaut Syndrome which is very hard to control with medications, and therefore he recommended trying the ketogenic diet.
When we went back to start the diet Noah had to fast for 24 hours - it was a very long 24 hours! Finally when his urine started to show ketones we were able to give him some feeds of the ketogenic formula which as a soy milk with lots of fat added - in the form of oil! At first it was very hard for him to tolerate it and he wanted to vomit all the time. We spent 3 or 4 days on the neurological ward until he was tolerating the formula okay. The best thing was that we were with lots of other patients who also had seizures all the time. It was so great to talk to other parents in the same position, to see what medications they had tried and to hear of other treatments. I was amazed by the Royal Children's Hospital - the hospital itself is so old and run down (they are now building a new one), but the staff were amazing - they knew so much and everything was there at the one place. The Dr would come and talk to me about Noah and his seizures and would then ask if there was anything else we needed while we were there and I would ask him about a neck collar that I see other kids using that I thought would be great for Noah, and within half an hour a physio had been sent up to see us with different collars to try on.
I was also very impressed that they had a play therapist come around every day to see what they could do to make each child's day as fun as possible. I told her that Noah would be okay (I wasn't really in the mood for explaining that he couldn't really see or do much) and within minutes she came back with lots of different musical instruments and beads for him to feel - they obviously had worked with many kids like Noah, and knew just what would suit him! It is one place that I haven't felt like Noah was on his own - there were so many other kids just like him there.
Every day we would watch the Starlight channel on the TV where the Starlight foundation would be broadcasting live from their Starlight Room downstairs. They would often have special guests which were famous athletes or celebrities who would spend an hour or two in the hospital. The kids from any ward (if they were well enough) could go to the Starlight Room while they were there and talk to them and be a part of the show. Noah and I would often take walks around the hospital and would visit the Starlight room.
Outside our window on the ward was the heli pad. Every day we would get one or two flights coming in with very sick kids on them. It would make me feel sick everytime I heard the helicopter coming in, wondering what was wrong with the child they were bringing in.
After Noah was tolerating his feeds and I was taught how to check his urine for ketones, we were transferred to a room in the hospital that was like a hotel room. Here we were independent and I was in charge of making up feeds and testing Noah on my own, but I still had the safety of being in the hospital if something came up. It was nice to have our own space and to know that we were almost on the way home, but to also know that the Drs were very close by if we needed them. On our first trip to Melbourne we met Rita who had a little boy also called Noah who had hydran. He was 6 months younger than Noah, but passed away from pneumonia when he was 18 months old. We also met Emma who was Noah's Aunt and are still in contact with both of them today. Rita took the opportunity when we were staying in the accomodation at the hospital to come and have a cuddle with Noah. It was so nice meeting them all and they of course all loved Noah and kept seeing little things that he did, that reminded them of their Noah.
Noah stayed on the diet for 9 long months. The whole time it was a juggling act of working out the right ratio of fat as he couldn't seem to maintain ketosis for a long period of time. At first it seemed to help his seizures, but in the end it was just wasn't working well enough to justify staying on it, considering it was so hard to keep his ketones up. Noah seemed to be different to lots of others on the diet and had a lot of side effects from it. Instead of always burning the fat like he was supposed to, he stored it instead and put on so much weight! Often people on the diet don't put on so much weight, but either maintain their usual weight or lose it because they are burning fat all the time. This was Noah by the end of the diet! I look at the photo now and still can't believe he was ever that big! I think he looks terrible, and am so glad he is off the diet now.
Even though it didn't work, I'm still glad that we tried it as I would always wonder whether it could've worked. Some days he will have a lot of seizures if he is just stressed about something - such as when he's not feeling well. This can also set him off in one of his moods where he just yells all day - like it has given him a big headache. It's the hardest thing to see Noah go through as it's something that is so hard to treat and not much you can do to make it better for him.
I'm hoping that these last few days where he has been a bit unsettled, doesn't turn into another episode of it lasting for a few months.