Our First Guest Post!

Amy is an AMAZING mom from Canada. Her beautiful daughter Ava has been facing challenges, like Bertrand's, which no child should ever have to face. Amy is fighting to save the spark that is Ava. She has accomplished wonders! Their story inspires us. Even though they live so far away, we feel close to this beautiful family. We share their story because, in a way, it is also our story.

The beautiful Miss Ava.

Here is Ava's story in Amy's words.

I have searched the Internet for many kids and parents going through similar experiences but to be honest this is the first time reaching out. I think it was because Bertrand reminded me so much of my daughter. There are differences of course but the character and movements were so much the same. I’ll share my story and try not to make it too long.

Ava was born on her due date weighing 8 pounds 8 oz. The only problem that came from labour was I had a run of the mill infection that could be dangerous for her if I didn’t get a few doses of shots. I did get one during labour but their was not enough time to get the second. I think babies show symptoms right away so there was no worry that Ava had this infection transferred and her neurologist doesn’t believe it to be a factor now. She scored perfect on her Apgar and the only thing unusual about her was that whenever someone opened the creaky door to our hospital room, she would jump and her moro reflex would be activated. One nurse thought it a bit peculiar but didn’t follow up on it. We were too busy enjoying our new baby to worry at all. Silly.

Ava is my second baby and unlike my first she had no troubles breast feeding and her sleep habits were exactly normal. I noticed she was really floppy at about 5 months. I also noticed that her moro reflex wasn’t going away and that she would startle or jerk many times a day. So subtle that even her dad to this day hasn’t recognized one. At six months I worried that she wasn’t even close to sitting even with support. She was so floppy. I took her to the doctor who referred her to a pediatrition and at eight months we saw him. He told us to come back at 12 months. In the meantime we started Ava on physiotherapy, signed her up to speech therapy and began early intervention. I told speech to write her name down for the waiting list but she most likely would not need it. We came back at 11 months and by this time I was really worried. She couldn’t raise her hand to her mouth but would take aim and miss several times before succeeding.

At first we thought it was so cute. I had started researching on the Internet. Retained reflexes and fight and flight responses thinking maybe this was why she could not move forward. I googled startle and found a site on startle epilepsy or myoclonic seizures and something in by head clicked. When we went to the pediatrition he saw her startle many times and I asked him if it could be a seizure. He laughed and said no. Definitely not a seizure but it would get us in to see a neurologist quicker. I squared my shoulders and pointed at the doctor and insisted he write down possible seizure activity. Thankfully he did.

Right then and there he diagnosed her with global developmental delay and had grim and final thoughts about her future. Not one real test was performed so while I was heartbroken by the tone the doctor relayed, my husband didn’t quite get it (even though he is a nurse) and was relieved that the doctor did not look at Ava and say right out that he saw her to have a certain disease. I guess there was hope there.

When we saw the neurologist three weeks later, Ava was set up for an EEG. I couldn’t believe how messy like a child’s scribbles her brain waves looked like but I never had any others to compare it to. The neurologist spoke to us right away saying that Ava was indeed having seizures. There was as many as one seizure or seizure activity every five seconds with a normal background. I knew it in my heart and was not surprised but at first I was really happy. Here was something we could fix easily enough with drugs. Once we stopped the seizures she would progress and everything would be fine. The doctor looked at me and said seizures do not cause delay, and that with the combo of both delay and seizures the prognosis was not good. I couldn’t imagine having that many seizures in one day not effecting her ability to progress and was excited to try her on the 5mg of volproic acid twice daily to see how it would help.

After about two weeks on the drug she began sitting on her own. (13 months) I couldn’t wait to show off her new skill to everyone and was so proud that she would catch herself with her arms to stop her falling. She was using her hands meaningfully. When she went to full dose and the first day of her swim lesson she began to say words. Mamma over and over in the pool. Num num ant lunch baba and began to wave her arm furiously up and down for a wave. Suddenly for three days she seemed to do nothing but sit and stare and my gut told me she was intensely focused on maintaining her sitting. She would say mamma for a few more weeks but no other words then that one stopped too. Her jerks began to progress until I saw them as frequently as before the meds and knew I had a decision to make. The drugs weren’t effective, she stopped making eye contact and would actively refuse to meet my eyes. I began to train her to look at me and read about the importance of eye contact and gaze and brain connections. I played peek a boo around her crib, I would tell her no, no, no until she met my gaze and then yes when she did, making a game of it.

Another thing I noticed was the lack of tears that she would have. Her eyes seemed moist but no tears would ever spill out. (That’s when I came across your site the lack of tears fitting a match) I asked her pediatrition about it and his stupid remark was that maybe her feelings haven’t been hurt enough to create tears. In the meantime we had an MRI set up but the wait was six months! Six months was too long to wait and I called the hospital every day for three weeks to get on the wait list. (Our referral didn’t even get there until we drove three hours to Halifax and moved it from one office to the next on our own.) Nothing could be done to speed up the process.

I told them we were flying to Ontario to a private clinic where my sister in law is a technician. They called us the day they got the request and fit us in the very next day. Her MRI was clear. Showing only slightly enlarged right ventricle. Later that month I got my local doctor to xray her shoulders and hips to check for any slight dislocation plus she had a tiny sacral dimple on her bum so I wanted to rule out a tube defect. The xray showed her upper arm bones to be slightly thicker but that was all. I asked my neurologist about the ketogenic diet and told her that if her seizures didn’t approve I wanted her on it. The doctor said no, she was too young. I pushed a couple weeks later and she said maybe. I pushed harder and Ava was set up for a week in the hospital to begin the diet! I was so happy, I daydreamed constantly on the miracle that would take place because I was so sure the seizures were causing her delay.

After about a week of this I put a damper on my thoughts and began to think realistically. If the diet did not work the way my deepest hopes believed, maybe we could stop her seizures at least. We saw a slew of specialists the first day. She was supposed to fast just from midnight till 10 a.m. After her eeg but her eeg got pushed back and she didn’t have any food or drink till after 3:00 p.m. The eeg showed a huge decrease in her seizures, with no seizure activity in between seizures and those ones cut by 75 per cent. The neurologist again said that this confirmed that her seizures are not causing her delay but I was not convinced. Hadn’t she just fasted? How do we know if the eeg would show the same results if she was eating her regular diet?

She hated the food at first and just cried the entire time I or my husband fed her. The third day on the diet her ketosis nice and high and a deep purple colour on the sticks she had finished being fed at the high chair. My husband banged to his hand on his table and amazingly Ava copied him. He did it again and again she imitated. He went to do it again but at the last second he stopped to trick her. She raised her hand then froze and let out a deep belly laugh oh oh oh she laughed. We were thrilled. He stuck out his tongue and she did too. Her energy changed. She began to look around and watch what was going on around her, like a fuzzy veil was lifted. Eye contact returned. A week later she was picking things up and putting them to her mouth and new sounds like wha were emerging. She got a rash similar to your son’s and her cheeks are flaming red but the docs aren’t concerned. They say it is contact dermatitis from the hospital sheets. Mmm.

It took me all day to make the first week of her food. I thought I would cry. I weighed out everything twice to be sure. The next time I made her food it only took an hour. And now I just prepare the days bottles and three days of meals. She started communicating in kisses lately. Pretty cute. She kisses to get our attention, and will lean towards the person she wants to ‘speak’ to. He ketosis has gone up and down. I think mainly because some huge molars have been coming in. Some days her jerks are coming in but weaker somehow and some days there are none. Nothing steady yet though. She still cannot crawl and is no where near that skill. The changes we see are slight but mountainous really. At least she seems to be able to focus more.

She had a genetisist see her and I could have kissed her after speaking with her. I had a list of possibilities (mostly searching for good outcomes but not always) including biotinese, angelman’s, hyperekplexia, deficiencies in other vitamins like b or folic acid and a bunch more I can’t remember off hand, oh yeah a wood’s lamp test. Within the first minute she reeled off the top of her head most of my list. It was fantastic. I got excited and told her I had thought of all of those and she asked to see my list. She humoured me and added the missing items of what to test. We had a microarray done which came back normal and the angelman’s and biotenaise is yet to come back. The regular chromosome test did come back with one showing angelman’s but when they tested 200 others they did not show anything. They think it is a fluke chromosome.

As far as intervention goes I have worked hard with Ava and nicknamed her Rocky. I have learned to back off a bit though and focus more energy on what I call kissing therapy. She is quite stubborn and will only do something when she is ready. To get her to go into crawling position which she hates I have tried everything. Her legs tucked into my lap and hands ahead of my knees, a skateboard, a two litre plastic pop bottle wrapped in a sock under her belly and a constant cheering section. I have a feeling she won’t crawl any time soon. I stood her up with her back against the couch and practiced standing (she loves to be upright with support) and she stood for about three seconds before leaning casually back against the couch! She began to shake her head no and yes again (a skill she gave up around the same time as her words) and when I pat my cheek against her mouth (don’t ask me why) she says mama. She turns to look around the room and is enjoying her food much better when I make it myself.

She mostly eats baby food but I am beginning to reintroduce solids without too much trouble. I also have recently noticed that she stays in ketosis better when she drinks ketocal rather than her cream and milk mixture. I think her calories are 720 a day and she weighs 26 pounds. I’ll have to look that up again.

One of the things that got my attention is that last week my husband put her down in the living room and walked away to tend to our other daughter. Ava, feeling abandoned started to bawl and I went over to pick her up. She had real tears on her cheeks. The first ever (she is 16 months). She has cried since then but not with tears so I don’t know what to make of it. The only thing I could find relating to the lack of tears and seizures is allgrove syndrome.

As you know it is so frustrating not knowing. I feel as though I have to save her somehow. What real motivation do the doctors have? I wish I knew more and I feel that there is still hope. Whether through intervention or diet or something. When I look at my baby I see two possible outcomes. One with seizures and delay and probably autism, the one who doesn’t look at me and drools and stares off. The other is my smiley, stubborn girl who is nosy and sociable and whose fat cheeks I just want to kiss all day. I see something in her eyes that I am trying to hold on to.

I wish a magic wand could help this lovely fairy princess!