Ava walking a year in videos

A scary day

I have not updated in a while but there have been so many changes.  In September we decided to take Ava off of the ketogenic diet.  Not because it was not working but because when she fell out of ketosis there were no seizures (myoclonic jerks).  This was the case for about a year.  For almost six months she showed no signs of seizures.  She dug into her meals with so much enjoyment we were so happy with our decision.  Then one morning I put her in her high chair to eat her cheerios and went into the kitchen to make toast.  She had waken up full of smiles and I had no indication on what was to come.  I heard the rattling of her chair and I thought first that she was choking.  I raced into the other room to find her in a full on tonic clonic (grand mal).  This was her first ever of that seizure type.  I knew what it was and yelled to my husband who had just gotten off the night shift as a RN.  He knew just what to do and did it calmly while I called 911.  Her seizure lasted about 4 minutes and when the first responders got there she was in the post ictal phase.  That phase lasted about 8 minutes before she started to cry.  The first responders were amazing.  The living room filled up with people and soon the paramedics arrived.  My neighbour came and took Meggie (my six year old) with her to her house.  They gave Ava oxygen and loaded her in the ambulance.  I asked if I could bring a bottle to calm her down but they didn't want her to drink until she was checked out by a doc.  About 15 minutes into the trip they changed their minds as Ava was inconsolable ;)  We pulled over and took the bottle from Craig who was driving behind us.  We got to Liverpool and the doc there called the IWK childrens hospital for advice.  After about 2 hours they discharged us saying it was probably a one off.  We got 7 minutes away when Ava had her second one.  It lasted 2 minutes.  We sped back to Liverpool.  I told the doc that we were not going home that we wanted to go to Halifax.  He said he had already called in the transfer.  I got into the ambulance with Ava and when she had her next seizure I could see that one coming.  It was awful to see.  Her face twisted up tightly, eyes fluttering arms and hands tight and then the shaking.  This one was again two minutes.  Afterwards she passes out with exhaustion.  At the IWK we are met with Ava's old neurologist Dr. Wood.  She held Ava and asked what the seizures looked like.  As she asks this Ava goes into another (despite just been given drugs)  This one was less shaking but lasted nine minutes.  My husband was watching the monitors and freaking out.  He kept shouting what is happening.  What I couldn't understand at the time but he did clearly was she was quickly desating.  Her oxygen level went down to 20.  Code blue was called but by the time the team got there she had already recovered on her own.  They kept us up on neuro for 4 days for observation.  Ava the next day tried to crawl but was too weak.  Her arms and legs would collapse.  But her spirits were high and the drugs were working.  It took both her and us a while to recover from that day.  It is now six months later and Keppra continues to work.  We hope this is the last we see of them but we are also prepared with adivan and the ability to call 911.

Ava crawling

Okay so this isn't the most pleasant video, as she is tired and messy from supper but I love the way she shakes her head no so emphatically when I mention bed time. Plus she's crawling! Love, love my sweet Ava.

What a difference a day makes

I haven't posted in a while. At first it was mostly because I wanted to wait to see what would happen when we flew to sick kids in Toronto. I'm not sure what we expected. Just to move forward I guess. The neurogenetisist we saw was great. He thought we should check with glucose transporter 1 (I had already done much research on it and dismissed it because of unique seizure type with rolling eyes) He found Ava's seizure control was remarkable with the ketogenic diet and that her body was seizuring because glucose wasn't getting to the brain. He also wanted to look into the lysosomal disorders (bad!). I also have done a bit of research on these groups of disorders last year and stopped because it was awful. Basically your body can't process something and it builds up in your body and there is nothing that can be done. It continues to build up and wreaks havoc on your body until you die. Basically if that was what she had she wouldn't live past 13 or so. I relooked at that group of disorders and realized why the neuro thought it could be that. She is only suffering from myoclonic seizures which seem to be indicative of that disease. BUT. And this is really big. Ava is not neurogenetitive. Which means that while she is progressing slowly developmentally, she is still progressing. She is not going backwards. The only skills she seems to lose is her vocabulary. And then it is to put aside a word she knows well (like up, mom, baba) and pick up a new one that she will use repeatedly.
I don't think she has this lysosomal disorder. But I am glad we are checking, just to get it off the list.
She will be meeting with a new neurogenetisist here in Halifax (in Sept) and he (Dr. Chronic-what a name!) will see her and she will go for a biopsy to check if anything is building up. At the same time she will have a repeat MRI, spectoscopy and spinal MRI.
The neurologist we saw in Toronto was a complete jerk. We were in the midst of an EEG (about 45 minutes in (No seizures at all!!!) and his student ran in to tell us if we wanted to see the doc we would have to do it now. He only had 15 min. Okaaaay doc. We just flew in from two provinces over to see you. Grrrr. We pulled the leads off Ava and I ran down the hallway with her to the docs and he was sitting there legs lazily spread wide (jerk pose) and he said 'so, what do you want to know from me.' I was completely baffled. I looked at him like he was crazy and was like what do you think?! He kind of straightened up and gave some suggestions and ended up staying 30 min. But it was a bit of a disaster. Very disappointed.
The best part of our trip was seeing our family. It was a wonderful time of connecting and just hanging out. I can't wait to go back!

On to other updates. I am so proud of how my little girl is doing. She is working so hard. I/she took the summer off of all therapies and instead just enjoyed being a family. I think that is so important. While we laughed and giggled we would bring our own therapies in but only as a secondary, natural progression. Her personality is blooming. Her last big physical milestone was sitting at 13 months. Last night she crawled! While she has been crawling in small increments over the past six months (scootch, up in four point, collapse, repeat) Last night she crawled beautifully all over the wood deck (in bare knees!) She did again this morning and I am so happy for her. If she can realize that she can get and do what she wants when mobile, it will open a whole new world for her.
Her communication is changing as well. She is still communicating in kisses. "kiss" for yes or I approve, and "kiss, kiss, kiss" for hell ya! But now she is also talking in ba's. The best part is inflection. If you ignore that it is ba ba ba, it sounds just like a conversation. (we enjoy singing ba ba bararan together) She is clapping. It is the sweetest thing. She clapped tonight when we saw a band play at the fair along with everyone else. It was her birthday and I asked her how she enjoyed it. KISS! God I love that chipmunk.

Tomorrow we will be having her first bday party with outside friends from her school...two bouncy castles, and a ketogenic affair. If she can't have chocolate nobody will ;)

If you really listen to her, she says quite a bit. When she hers something new or that she enjoys she will put her hand to her ear and look at you inquisitively. (That is the dishwasher making that gurgling sound, or yup twinkle, twinkle little star!)

She also shows very well when she is upset, mad or frustrated. The other night she was pissed at me for some reason when I got home from work. Maybe because Craig was home and I was not. She refused to look at me when I said hello, exagerating it by turning her head completely away whenever I tried. When I had to leave again (first date night in many months) She caught my gaze and held it babbling sweet nothings until I melted. She laughs all of the time too. Sometimes a sarcastic guffaw and other times a deep belly laugh or girly giggle. All of us, Meg, Craig and I seem to have focused so much of our goals on getting Ava to laugh, it is such a wonderful sound.
Other communicating strides have been simple sign. Like slapping the ground or table twice for more. Kiss for yes. Shake head no (and really mean it) pull hair for nap, tap ear for what's that sound and my personal favourite; tap chest twice for I love you. (I taught her that).
She has us all wrapped around her little finger. :)
(Side note: I read the book Jesse this month. Happened to pick it up accidentally. When I realized it was a mother's story about bringing up a child with CP and he passed away (from seizures) in his teens, I felt it was not a good idea to read this book. Then I read how Jesse communicated in kisses and felt like I was reading about Ava. Jesse and his family had to fight so many battles. He turned into a beautiful poet and person, able to communicate through computers. His mother's writing is honest and hits very close to home and despite the sad overtones I recommend it for any mother going through the challenges of raising a child with a severe disability. (can find book here) http://www.marianneleonecooper.com/site/

Diet wise I was worried for a while. She kept falling lower and lower on the percentage scale with height. 95 (at birth) to 25. All her team told me it was no worry but really, when is it time to worry? When she falls to the negatives? The dietitian added protein and she shot up 4 inches. She sits now, happily in the 50th percentile (phew!)

Last year (it feels) at this time I was always worried about everything; seizures, global delay, what the heck was causing this all.

Today, I just feel content. Happy, that Ava is with us. Happy that she is moving forward (even if it is at a snails pace) Happy, that she wakes up every morning excited and giggling to meet the day.

I know tomorrow worry may come again with no warning but I'll take this feeling for now, because it feels good just to enjoy the simple pleasures that my family brings to me.

Video of Ava walking in walker (first day)

A good week

We started out the week by heading to visit my mom at the hospital in Halifax. Mom has been going through a roller coaster ride through hell of her own when she was diagnosed with small cell lung cancer. The good news for mom is despite it having a very low positive outcome, she has caught it before it spread. That puts her in a better category and doctors are now doing all they can to abolish the nasty beast. I know she will beat it. My mom has a spirit unlike anyone I have ever met. She was just finishing her second round of chemo when we visited and she had the kids sitting up around her and trying on her new wig the hospital gave her and Meggie eating up her pudding. The girls adore their Nana. Their faces brighten and I never see Ava so engaged as when she sees both Nana and Grandpa. Earlier in the week we stopped by her empty house on the way back from an event and Ava looked around the room with a wry smile just waiting for Nana to jump out and say boo! Snuggle time with Nana will be at a minimum as she enters chemo and radiation because her immune system will be so low that a cold could really hurt her. And we all know how germ infested little kids are, I just hope that this time will pass quickly and by summer the cancer will be just a thing of the past.
Back at our hotel Ava started saying Mom! It was such a clear word while she irritably looked at me waiting to be picked up. She continued to say it all day every day since. Other words are starting to emerge in quick succession. The up word made a comeback a couple times. She used to say it all the time but quickly forgot. Until it became um and then uh. Now it is back to up or um but we treat it as up no matter how she says it. It will come. At a joint physio/OT/speech session Ava was across the small room with her physio and I called Hi Ava Hi across the room. She looked at me and said H-iiiii back! Whoa! She has been loving to walk while we hold her hands lately. She walks a bit drunk-like and wobbly but her feet are definitely going somewhere and she has learned to stop and switch directions and even step sideways to gain a better purchase. At her session I held her hands and walked her where she wanted to go. She walked up to her physiotherapist and as she reached for Ava, Ava shook her head no then turned around and walked to her other therapist, again she shook her head and continued around the room playing this game she had created. I loved it! A funny time this week for us was when we put her to bed but about an hour later she woke up and cried to get out. Usually I will just tuck her back in but instead picked her up to have some mommy and daddy time. The look on her face was pure joy as she realized she was free. We snuggled on the couch and she kept leaning her head on my shoulder then jumping up to look at me and then leaning again as if to show me she was giving me a hug. Something I have been trying to teach her as she usually doesn't like to be enclosed too much. A bit claustrophobic like her mama. It was very sweet and I could have done that all night. She started to rub her eyes and so I put her back down to her crib. Ten minutes later she complained again and when I opened the door she popped up from laying as quick as lightening and reached her arms up to me and shouted Mama! With this great smile like I was about to pull her out of bed to play again. So funny! But I shook my head no and she was fast asleep within minutes. What a great night!
We went to her neurologist appointment expecting to fight but deciding to wait to see what the neurologist would say first.
It took me almost a year to get a concrete alacrima diagnosis when all of the specialists were telling me that it was definitely not alacrima.
I sent off emails and follow up phone calls to her team of specialists asking what tests will be done now that we have this added clue. Her neuro nurse (we like to call nurse rachet) called and left a message saying that the neuro didn't plan to do anything but we would 'chat' about that at the next appointment.
I was seething. It sounded like the alacrima would not be explored and the word chat more than irritated me. We were talking about my child's life. We do not chat.
In the weeks leading up to the visit, I posed arguments in my dreams. How I would fight Ava's case.
All the steam went out of me when her neuro's first words were 'I am becoming an expert on alacrima'
Relief flooded me. I am not a neurologist. I can't do this on my own.
We worked through my list (maybe another day I will post my list of things that could fit, but probably don't).
He thought that we should have a barrium swallow test done. His thoughts were for Triple A or Allgrove. I know that is the only one that comes up when they input her symptoms in a computer. http://emedicine.medscape.com/article/919360-overview
She will also be getting a ACTH sensitivity test done. Both of these are important and have been on my list of tests for awhile now.
Another positive thing is that the neuro upon our request, is referring us to Toronto Sick Kids hospital! We will hopefully be going in the spring but that is just a guess. I am so excited. It is one of the world’s leading paediatric health-care institutions and is filled with specialists that aren't available in Halifax.
Developments and moving forward is good. It feels like it has been so long (a year!) since she had any diagnostic work done.
Ava was funny during the appointment. I put her on the floor and she immediately started to reach with her hands and drag her body across the floor (something she really has never done) and then grabbed on to a chair leg and pulled herself into a kneel. She beamed at the doc, looked at me and said Mom. I think she might have been showing off ;)

A great day

Yesterday, Ava made some great strides that just made me feel hopeful. We had a great day in total starting with a visit with early intervention. When Ava saw Teresa her whole face lit up. Since getting her glasses this is what she has done when meeting 'for the first time' familiar people in her life. Her glasses seem to be helping. The day she got them I was trying to figure out if she could indeed see better and held up a small block with a funny monkey face on it. Her eyes passed right over the block stopped then flew back to the picture and she let out a guffaw kind of chuckle. Teachers are definitely seeing an improvement as well. I think it is a move in the right direction but still think it could be stronger.
Yesterday she made me so proud. (But she does every day) She sat at her high chair and fed herself an entire meal of apple chunks and ham. She was a bit nervous of the apple and kept spitting it out until she learned to eat it with her front teeth (back ones are still emerging). She grabbed at that food and put it in her mouth like she was doing it all along. She still has to work on letting go of the food. It's like she's thinking it took me so long to learn to pick this up there's no way i'm letting it go :-} She still has a difficult time with the bottle while sitting but she picked up the bottle and jammed it toward her mouth and I propped her elbows on her tray and she happily drank away. I was so impressed when she finished her meal and realized I had only assisted on about three bites. Huge milestone.
Lately Ava has been slapping her knees or the table repeatedly. She usually does this when I try to give her food when she already has a mouth full to let me know 'hey mom i'm still eating'
I tried to teach her to slap her knees when she wants more.
That night when I lay her down and sang her a good ole rowdy drinking song to bed, she started laughing and slapping her knees. I kept singing. Suddenly she shook her head no. I stopped mid-verse. She laughed and looking at me teasingly slapped her knees and off I sang again. Laughingly we did this about ten times and I felt my spirit soar. She was teaching me a game and showing me the rules. It was amazing. It was awesome communicating. When I spoke with my mom later that night she said they were doing something similar where they were tapping their toes and playing and stopping the music while dancing Ava around the room last week. They stopped when the music stopped. I wonder if she was showing me that game? I hope to see this kind of behaviour continue. It's hard to know because sometimes we get a great milestone like that and won't see it again for months but hopefully if we keep at it and make it satisfying to her she will keep it up. What a great day for Ava!