In the news

Here is a column I wrote for this weeks paper (many things already shared in my blog) I just can't get away from sharing that pic of Ava...she is just too cute in it.

http://www.thecoastguard.ca/Living/2010-03-31/article-975745/The-power-of-diet/1

Ava's first word

Ava said her first word! She reached her arms up as far as she could (another skill she just picked up this last two weeks) and said up! We had been practicing that word for about two months now. I picked her up and again she said up. I tried again and put her on the floor and told Craig to listen. I said do you want up Ava? She said up, again! Only when I tried to get it on film did she stop saying it. Typical! Right before she said up we were playing with a block and hammer set where she has to bang in the blocks but I couldn't find the hammer. I kept saying Craig where is the hammer, I finally just found the hammer and do you think the hammer is under the table? I found it and gave Ava the hammer and she said clear as a bell hammer. I looked at Craig and laughed and said there you go her first word...hammer. I was joking though because I think it was just a coincidence. Funny she said up right after. Proud of my girl.
This week she also began truly reaching for things with her hands and for the first time really trying to use her hands. She easily reached into a soft container and plucked out a toy today, a skill we have been trying to get her to do for a long time now. These are all very good steps forward. I hope to see this flurry continue.
She also has reached a new emotional milestone of separation anxiety. We are having a difficult time leaving the room even for a bathroom break. She wails her 'you killed my pony cry' with slumped shoulders and all. The other day she cried when I walked out of the room to get something so I came back and sat down. That cheered her up until the dog came in the room. Ava reached out to pet him and the dog walked out. Same huge bawling episode until I called the dog back and instant cheer.
She also has somehow without crawling been moving across the room. She falls down onto her belly and then sits up and lays down and sits up until she gets to where she wants. She did this three times this past weekend. One time it was to touch the giant teddy bear that was sitting in the rocking chair. I know because she was looking at it from across the room and I asked her if she wanted to see the bear. Before I got a chance to bring her over I was distracted by Meg screaming bloody murder over her computer game. By the time I got back to Ava five minutes later she was clear across the room and hugging the bear's leg.
I think the best thing is the fact that she is wanting to interact with us now. Not all the time but definately more often than usual. Her cute bum wiggle that she likes to give while laying on her tummy is getting more pronounced (so cute) I think it is her desire to crawl. Today with EI when we were distracted from Ava and talking she would lay down and practice the crawling (bum wiggle) on her own. Like hey we're working here!
I changed most of her fat in her diet to coconut oil, coconut butter and even coconut milk in some of her bottles. Not sure if it will help but her seizures began when she stopped breastfeeding and coconuts are the only source of lauric acid found in breast milk. Connection. Who knows, but for now we are coco for coconuts!
I found out by requesting her blood work and going through it myself that Ava's carnitine was 14.4, according to the lab that processed it, deficient levels (children's hospital in Toronto) when I requested further to Halifax they said that her previous levels were normal. I said well what were they and they said 14.6. I said that is what they were now and then got pretty confused. Apparently Halifax says 14 to 60 is normal and Toronto says 25 to 60 is normal. What is normal? In the meantime she is getting on Carnitor, just to be safe.

We went to see a phychiatrist today to see if Ava has autism on top of everything else. I must be the only parent trying to convince the docs she does have autism. It would mean four days a week of intervention for Ava and physio, speech and all coming to the house for sessions that would be about four hours a day for a year. Very intense and all based on a specific learning approach. The only problem is that they have only two spots for the entire tri-county region. That is a problem. They actually pick a name out of a hat for the kids who need the services. A bit insane. Supposedly in other provinces they have to pay a not so small fortune a year for these services, and here is offered for free. If you don't get the spot then you do still have an autistic team but less intense and probably similar to Ava's schedual now but everything at her home. One day every two weeks intervention, physio and occupational and speech. (We go private for any additional physio we get for Ava which works for us fine) They are sending everything to Yarmouth and she will be assessed then. Supposedly we are moving fast through the system right now which is a relief. I can't handle waiting very well. Too much is at stake.

A very good week all in all!

The most recent eeg

About a month ago now we went for a follow up EEG after initiating the ketogenic diet. The technician put all the gooey leads to Ava's head (we joked that all the neuro kids were sporting this spikey hair gel look). This time Ava reached up to twirl and play with her hair and we had to keep her hands to her side or risk the leads being pulled out. The last EEG that we went to had a look of a child's very messy drawings it scribbled in every direction and was as close to being hypsarythmia without actually being it. This time when the EEG readings began to run through it was this neat little scribble, more of a librarians writing than an excitable toddler's.
About halfway through the technician started going through her notes, comparing the last one with this one. "When was it that she started this diet again," she whispered. "And you say she isn't on any medication?" I told her it had been exactly three months and she said that was incredible. At the end of the reading, they did the photo stimulation which elicited jerk after jerk as the strobe lights flashed. "That is enough of that," said the technician. The technician told us that she couldn't let us know what was read but I could tell the differences on the eeg without training. Anyone could. "I am really excited about this," she said. It turns out that Ava had only one seizure on the eeg in an hour except for the end photo stimulation which caused many. We will have to be careful taking photos of her that the flash is off.

I am very happy that the diet is working to control about 95 per cent of her seizures. Only 30 per cent of children gain this. I am not satisfied though and am hoping that we can completely get rid of them. I mean, who can be truly happy that their child has a seizure an hour? Give or take. This is a really good start though and at least with most of the seizures out of the way and no drugs we know what we are working with and what is Ava.

Ava's development

Just a note on how Ava has developed so far. It is easy to track because each skill she has acquired has been painfully slow. When she was three months old I would pull her to a sit and her head would fall back in a lag. She always grinned when I did it so for some reason I thought she was playing. The doc noted it (but of course didn't tell me anything other than hmmm.) When I would put her on her tummy she would scream and scream without moving her head to the side but after a couple months of doing it anyway she stopped and began to raise her head up a bit (five months). The biggest gross motor development so far is her sitting. I remember very clearly the day she first sat. She was 13 months old and I was propping her up against the couch on the floor. When I let go she stayed up and then inched forward and still stayed up. I was so excited. I moved her to the middle of the floor and like defying gravity she did it. Just like that, after five months of propping and trying to help her sit. Suddenly she was sitting like a pro. Within weeks she learned to stop her fall with her hands (another huge milestone) and began getting steadier. A few weeks after starting the keto diet (16 months) she started picking things up for the first time with her hands and bringing them to her mouth. She could never get something as far as her mouth before. At 17 months she began to get into sitting from laying. That is still something she is perfecting. Some days it takes a lot of effort and other times she just pops right up.

We are beginning to realize a learning pattern for her. At eight months she blew raspberries then stopped, she babbled ma da num and nigh then stopped, she shook her head yes and no then stopped, months later she started blowing raspberries again, then she started (not often) slightly shaking her head no again. I was worried about this wondering if it was degenerative but her neuro thinks that it is normal. Like when Meggie would master a skill she would stop it for a week as she learned another and it would come back. It just takes Ava about two to four months to learn a skill she is working on. (Closer to two) For the past two months Ava has been twisting and placing her hands beside her like in a crawl. That is all she ever wants to do. Twist and place then back up and repeat. Last week she started moving her back knee up to try to make it over but can't quite make it. She also is starting to multi task. While learning to get into the crawl she has also started to place her hands in front of her in a sit position as if getting ready to bum shuffle. I have seen her move an inch forward.
She also is twisting to where she wants to go and leaning in that direction so hopefully we will see some kind of locomotion before her second birthday.
To help her gain arm strength I will hold her knees and walk her around the room like a wheelbarrow. She does walk her hands and seems to enjoy it.
We have also begun to work with her standing from sitting. I sit her on my knee and hold her hands and she will stand up on her own (she is so proud when she does it...yeah Ava!)
This weekend the whole family was singing kareoke on the PS3 and I put the mic up to her mouth and she scrunched up her nose in her 'i'm so cute expression' and sang 'ahhh' into the mic, it was no fluke either because the nose thing happened every time. I think I will bring a mic to her hearing and speech class.

No answers

Genetics came back negative for everything. The neurologist still does not know why Ava is like this and so we just have to keep moving forward without an answer.
In the meantime we continued to follow the diet and I would encourage any parent to start the diet early. I imagine it is so much easier. Ava doesn't know what pizza is so she won't miss it. I think the hardest part of the diet is the guilt you feel about not letting your child eat all the things you know is yummy. It's also not very nice to see their cheeks glistening with oil after a meal.
But the possibility of seizure control is too important to compromise for an ice cream sunday.
At first I would weigh out all of her food a week in advance but now I just wake up and weigh her breakfast which from Monday to Friday is something that looks and tastes like minigo yogurt. It has 7 g of oil, 6g of oatmeal, 13 g of cream and 12 g of mini go for a 4:1 ratio and 360 calories. She loves it. On weekends I make her an egg omelet that I would eat myself it looks so good.
For lunch she gets chicken breast with bacon green onion and tomato with mayo and a dash of lime juice. Or chicken and apples with cream and margarine. For beef meals I sprinkle a bit of beef bouillon, beef strips, sour cream and margarine and it tastes pretty good. I always mix everything together, it makes it easier that she gets the proper ratio. If she spits something out or it drops on her bib, I just scoop it up and put it back in her mouth.
Supper I usually make while I am making the family's meal. Here I try to make it as close to what we are having.
I go the easy way out with her bottles and use the ketocal. I find the small amounts of milk and cream difficult to weigh out and she stays in better ketosis with the ketocal. I might go back soon though because a milk bill of $200 a month is a bit pricey.
Ketosis is what happens when the body starts burning off fat for energy when there is no carbohydrate in the body. We test her ketones three times a week in the morning and evening. I used to test it five times a day while initiating the diet so that I knew exactly when she was in ketosis. Now I will when I change a meal or add one or we change her calories.
There are some things that will pull her out of ketosis even when we follow the diet. For example when she teethes, is sick, tires or just upset. Sometimes I notice that when her routine changes or she exerts herself too hard seizures will break through. I don't worry about those yet because they are out of my control.
There is a light at the end of this buttery tunnel, that maybe in two years we might be able to stop the diet but for now we are trucking along without too many bumps.

A different kind of miracle

At the hospital we were bombarded with tests and a medical team. After having such slow progress in diagnosis it was a bit overwhelming.
First we met Ava's dietitian, Cindy. She explained the diet to us and what we would expect throughout the week. She said she would visit everyday and give us new information a little at a time so we would not be overwhelmed.
We then were scheduled for an EEG but so far Ava had not eaten since 7 pm the night before and it was now 2:00 p.m. Her reading showed a marked improvement but every other page still showed a messy wavy picture of seizure activity.
Then she was seen by an opthamologist to see if he could diagnose her. Unfortunately the doc was fresh out of school and although he did a thorough look at Ava he admitted his experience was lacking indeed.
One of the features of Ava that stands out for me is her inability to cry tears. Her eyes are moist, but tears never overflow. They did a quick search and came up with Allgrove syndrome. Because Ava's eyes are moist though they do not worry about this.
I find that extremely frustrating because If you try to find a diagnosis for seizures and developmental delay you are fighting through thousands of possibilities, if you add alacrima, the list narrows significantly (like less than twenty I think).
Here was the key to finding out why, but I have spoken to three opthomologists and her neurologist without getting much interest back. I will pursue this matter more aggressively soon.
That same day we met with a geneticist who was pretty cool.
Within the first five minutes she had questioned things I had wondered about after two months of googling. Biotenaise and angelmen being two in particular.
The diet had begun and food was sent up three times per day. We had a few learning bumps where Ava could not possibly swallow what was sent. She had been experiencing a downfall to her great eating where everything was making her gag.
But by the third day something quite amazing happened. Ava was in a high chair in our hospital room and my husband banged his hand down on the table in front of him and said bang to Ava.
Ava slapped her own hand down in imitation and grinned. Craig did it again, and so did she. Then he did it once more but stopped before making impact. She stopped too and gave a real belly laugh like hey you tricked me.
That was the first sign that something was changing.
I wouldn't say that the fog that surrounded her has lifted but I would definitely say that it has expanded to include a lot more so that she is more aware to what is going on around her.
It wasn't the absolute miracle that we were hoping for but it is the first step in learning. Without that interest there couldn't possibly be progression.

The Ketogenic Diet

I first came across the Ketogenic Diet while reading a textbook on epilepsy. I quickly found the website Mathews friends and began to read stories of hope in controlling seizures. Ava's pattern of seizures were continuing and from reading other parents stories of seizure control (or lack thereof) I knew I did not want to wait for Ava to be on four different drugs with limited control before beginning the diet.
I went to her pediatrician and asked him about the diet.
"Yuck", he said wrinkling his nose in distaste. "You have to feed your child things like butter and mayo."
End of subject for him. No facts on how the diet could be successful for many or how Ava is an excellent candidate for the diet because she only has myoclonic seizures. Nope, just yuck.
It is a good thing I am both stubborn and don't listen very well or perhaps I would have been deterred.
A few days later I contacted her neurologist. She suggested we wait a bit longer before thinking about it. She said that it wasn't something we enter into lightly as we need to spend a week in the hospital to initiate the diet.
I bugged her again two weeks later. I wasn't going away. I think she realized that we would be committed to the diet and said we would come in probably around three months later.
I read up as much as I could about the diet and would dream about the really amazing success stories where children were going in to the hospital in wheelchairs and leaving skipping down the hallways.
After about a week of this I had to check myself of these dreams. We were doomed to fail the diet if our expectations were so high. I changed (with effort) my expectations to have seizure control and put the hope for a miracle through the diet on the back burner.
We got a nice surprise when the hospital called to say they had an earlier opening and could we come in two weeks! Within 20 minutes I had childcare arranged me and my husbands work vacations booked and the dog taken care of.
Everybody knew how important this was for Ava.
Before long we were taking the 2.5 hour drive to the hospital to initiate the diet and despite my best efforts the hope for a miracle resurfaced to create a dance of anticipation in my tummy.

Ava's history

Ava was born weighing 8 pounds 8 oz on August 13, 2008. She was what we thought a healthy baby. She latched on right away and fed beautifully, slept well and responded well to touch and voices. At two months she rolled over once but I never saw her do this again for a long time. She also began to smile. At five months she began to eat solid food and could easily tackle the mushed up baby food. We began to realize some different things with Ava than with our 3 year old at the same age. When Ava would try to bring her hand to her mouth, she kept missing. She would take several swings and sometimes would raise her hand to her mouth using her other hand. We thought it was pretty cute and were not worried. At six months I began to be slightly worried that she wasn't sitting. She had just begun to roll but one way only and hated tummy time. She would lay face down on the floor and bawl. Eventually after giving her ample floor time she began to lay there without crying but had difficulties lifting herself up. At around five months I noticed that she would startle quite often everyday. I thought maybe I was surprising her when I reached out towards her. At seven months I brought her to the docs because that is what the books said I should do. I wasn't really concerned, just trying to be a good parent. He set us up with a pediatrician and at eight months we saw one. He checked her over and said to come back at a year in the meantime we began physio and occupational therapy and signed up for speech. While making these appointments I was apologetic and felt that I was wasting their time because I knew Ava would suddenly start developing with a flurry. At eleven months I was very worried. Ava had not developed much from six months, she still could not put her hand to her mouth. She could now roll both ways but she still could not sit. Her jerks were more apparent (just awareness of it I think). I began to search the net and found something called startle seizures. Ava would sit on my lap and every time I scrolled down the page Ava would jerk. When she was an infant she had an exaggerated startle and at first I thought she was retaining her moro reflex and was in a constant state of fight or flight (my theory only). We went to see the pediatrician and he checked her over and said she had global developmental delay. He could not see any unusual look about her that would point to a genetic disposition. Although he did notice tiny folds behind the ears. I asked him about the startles she was having every five minutes now. He witnessed quite a few. I asked him if it possibly be seizures but he said no definitely not seizures...although it would get us in the neurologist faster. I was filled with an assertiveness very much unlike me and told the doctor to write down seizures. I didn't care what he thought or if they were or not as long as she got into the right care. That would be the first of many times so far that the mama bear in me would come out. At 12 months we went to the IWK for a neurology appointment. The eeg showed lines that to me looked like a child's messy handwriting. Huge scribbles that would go up and down across the page. The neurologist brought us into her office and let us know that Ava was experiencing myoclonic seizure activity every five seconds according to the egg. At first I felt relief because I figured we found the reason for her delay. Now all we had to do was stop the seizures and my baby would be alright. The neurologist dashed that almost immediately saying that seizures do not cause delay, but more likely her seizures and delay are caused by the same thing. (That is yet to be determined in my heart or by her diagnosis or lack thereof).
She took blood and urine samples and prescribed valproic acid. She also warned us that the medicine could pose a risk to her young liver and to watch out for signs like yellowing of the eyeballs.
When we got her on the beginning dose of meds, her startles seemed to reduce. She learned to sit! What a miracle that was to see. She was raised up to her next dose the same day she started swimming lessons at 14 months, she began to babble saying ma ma, ba ba, num num and nigh nigh for two days then stopped. I noticed that on the day she increased her meds she would get a flurry of activity and then stop. After a week on the med dose seizures would begin to creep up again.
While playing with dosages we started really aggressively promoting Ava's development. At home I would take the things I learned at physio or early intervention and work with it. I also would attempt a few MacGaiver moves of my own. I attempted to get Ava in four point by laying her on a kids skate board cushioned by a blanket. I would wrap a 2-litre plastic bottle of pop in a heavy sock and stick it under her belly (boy did she get mad, but it worked). I would sling a sheet around her torso and pick her up just enough to provide support so that she could experience weight bearing on her hands. We nicknamed her Rocky and would hum the theme song 'getting stronger' every time we would begin a session.
The biggest problem for Ava is that she would get tired. She would work for five minutes and need to rest for five minutes. She looked exhausted all the time. Seizure control was not working to my satisfaction and it was time to find another alternative.