Sorry for the delay. It's been quite hectic with school and job searching, but here are our latest updates.

Zoe had testing done in January that has ruled out Rett Syndrome. This is good news, because it rules something out, but is bad news because we still don't know her condition. There is a possibility of GLUT1 Deficiency Disease, and her geneticists are consulting with her neurologist to see if she fits it well enough to perform a spinal tap for diagnosis.

Other than that, Zoe is doing WONDERFULLY in school. She, according to her teacher, is only one of a handful (literally) of kids who can recognize every letter of the alphabet, count to 15, and recognizes every colour. The kids in her class love her, which is awesome!! Other great news is that the other day, she went into the Kindergarten bathroom by herself, pulled off her diaper and sat on the toilet!! Let's hope this is the start of some potty training!

The glasses she has been wearing were helping, but her right eye is still weak. Her doctor has us patching her left eye for two hours every day until February. This is pure hell on earth because she lasts 10 minutes before pulling the patch off. We probably go through 4-5 patches in an hour, and those patches ARE NOT CHEAP!!!

Let's see...what else? 

Zoe will be having her surgery on November 24 to remove her tonsils and adenoids. Her tonsils and adenoids have grown from Grade 1 to Grade 4 plus since she was originally seen in February, and are now causing obstructive sleep apnea. She spent 3 nights in the hospital on monitors, having minute or longer apneic episodes, with o2 levels dropping as low at 83%. We are GLAD, beyond GLAD that they are finally coming out, but scared as hell too, because she doesn't do well under general anesthetic. She ALWAYS ends up intubated.

But on a happier note, Zoe has had her wish granted by the Make-A-Wish Foundation. On November 13, we are being picked up in a limo to be taken to the airport and flying to Orlando for one week. We will be staying at Give Kids The World resort and going to the Disney parks, and maybe even having a tea party with the Disney Princesses. She is most excited about the princesses; Isaiah is most excited about the "giant plane to Marineland", lol. (Whale and Dolphin theme park in Niagara Falls, Canada).
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Wow, so it's been a while since this was updated. It's been quite eventful in our lives lately. I have been busy with school, having finally finished the theory portion of my Developmental Service Worker program and am currently finishing up my externship. I am set to graduate in October or November before going back for Autism and Behaviour Sciences in January.

Other than that, we have a new member of the family. Zoe and Isaiah became big siblings to Anberlin Maria Kate on May 4, 2011. So far, at nearly 8 weeks old, Anberlin appears to be in perfect health with no signs of any kind of -cephaly.

Zoe is 4 now and developing and progressing nicely. She can sing her ABC's and recognizes every capital letter of the alphabet. She can differentiate between boy and girl and we're working on big/little, in/out, etc in therapy. In Occupational Therapy, we're working on colouring in the lines and being able to build her letter with the Handwriting Without Tears program. We're also working on focusing her attention span for longer periods of time.

Zoe starts school in September. We're all excited and nervous mixed into one. I look forward to her growing and progressing with her peers, but we're scared, too, that the school won't be able to understand or handle her medical needs. Zoe was diagnosed with Complex Partial Epilepsy in March. For those reading who don't know CPE, basically, it is a seizure, but she just looks like she is spacing out and not paying attention. I fear she may get in trouble at school for "not paying attention" when she's really having a seizure, and they may not get her medication in time, if at all. I don't know if I fear this or her being a flight risk more. It's all very complicated.

What else? We see her geneticist again next month to find the results of her MRI that she had in March. I hope it'll have more answers for us as to what her condition is, but I'm not giving my hopes up.

I think that's about it for now!
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Dear Zoe,

From the moment I found out you were growing inside me, I loved you with all that I am. With every squirm and kick, I fell more deeply in love, and then you born. When I first laid my eyes on you, it was an instant connection and I knew that nothing could ever break it.

As you grew older, your Daddy and I began to notice that what was right for you was not quite right overall. We soon learned that there was something...a monster, perhaps, that was slowly stealing our little girl. This monster took your ability to speak where a child your age should speak. This monster left your arms and legs unstable. This monster rearranged your chromosomes. This monster stops your brain from growing and takes away a signal in your brain necessary to your body. This monster is a coward, showing only its shadow, refusing to reveal its true self.

I know it is not your fault, but the fault of the coward invading your body, but there are things I have seen you do that hurt me so much. I wish I were able to take your frustrations and fight this battle for you. When you hurt or are angry, I see you hurt yourself. I watch as you hit yourself in the head, or bite yourself and it makes me sad that I do not know how to help you. It frustrates me just as much when your Daddy and I cannot understand your desperate attempts to talk to us. It makes me upset when those around you choose to judge rather than learn about the amazing little girl you are, despite your challenges.

I hope you know that I, your Mommy, and your Daddy, and your brother and sister too, love you so much and will never stop fighting for you. You fight this battle every day and your bravery and integrity for such a little girl amazes me. When there is something you need, we will NEVER stop fighting to get you what you need. We will ALWAYS be there with open arms to love you and protect you from whatever we can. We can't protect you from it all, but we sure as hell will try.

I don't know if you'll ever come across this letter, but I want to say this one thing:

Zoe, you are my hero. I have never known such a little girl with so much spunk and attitude in her, who is brave in every single way. I know that as I write this, you are oblivious to your fight, but Zoe, you amaze me every day. Thank you for not only being my hero, but my daughter as well. You have taught me not to fear the unseen or the unknown, but to don the armour and fight the good fight.

I love you Zoe. Don't ever forget that!

Love Mommy (and Daddy, Isaiah and Anberlin)

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The site was down for maintanence for a short time, but is back up and running. Zoe has another MRI coming up on March 3, 2011 so look for those updates soon!
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Wow! What can I say? Our little Zoe is really coming along. From her diagnosis in June 2009 to the time she started daycare, despite her therapies, Zoe didn't progress very much. But the great news is that from the time she began daycare up until now, her speech has flourished and she has developed by two months!!

Now, I know some people who come across this page who have "typical" children will think "So what?", but to those of us living in the special needs community, any progress is ground to celebrate!

Zoe has also recently begun showing interest in potty training. Her dad and myself have, since the beginning of this website, split, but both are very involved in each other's and our children's lives. We both still have the children every day and do still spend some time together as a family. Well, between houses, we have only been taking Zoe to the potty when she wakes in the morning and when she wakes from her nap. Over the last two weeks, she has had only a handful of accidents. A few days ago at her daycare, she came to the gate as I was leaving and told me, "Zoe pee!", so I asked her "Do you have to go pee?" and she nodded yes. She has never before told me she has to go or has gone. So I pulled her over the gate and was about to take her diaper off when I felt the moist and wet. She had just gone. BUT! It's progress!! She recognized that she had to go/had just gone and she told us! In a little less than two weeks time, we will begin potty training Isaiah and hope to train them both at the same time.

The day that Zoe potty trains fully, without accidents, there will be a huge celebration.

As of now, we do not have any medical updates. She was recently tested for Fragile X Syndrome, and her clinical geneticist was working on getting OHIP funding to cover an RNA sequencing test. For those who are unaware of what RNA sequencing is, our chromosomes have two parts to them, RNA and DNA. My understanding is that the microarray and FISH tests look at the DNA portion of the chromosome, where sequencing looks at RNA and DNA and can break the chromosomes down further than microarray and FISH can.

We have not heard any updates. Zoe will also go for a follow up MRI within the next few months to check the progression of her condition. We know it will not have gotten better, but we hope it has not gotten any worse. We will updates agai
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Wednesday September 1, 2010, Zoe had her EEG. I woke her up at 2:00am to have her sleep-deprived, and we sat on the couch watching Finding Nemo, The Aristocats and Pinocchio. As I worked on homework, I struggled to keep her awake, but we managed to do so until her appointment time. She hated having the electrodes placed on her head. It was a sad site to see her head wrapped in bandages. The poor girl was so tired. Eventually, her dad and I laid down with her, one on either side of her, and she fell asleep right away. Daddy stayed with her during the EEG, while I did some essays that were due that day. And just as quickly as it began, it was over. I wish I had more information to pass along, but I don't, unfortunately, as we haven't received any report back on the EEG. Hopefully, we will soon.

On another note, we're one step closer to a diagnosis, or so we hope. Some of her latest testing revealed a translocation (move) of chromosome 15 to either chromsome 13 or 21. They are not quite sure which yet, as all three chromosomes are very similar in shape. While I'm not sure if it's because of this new information, or if other testing revealed anything else more serious, next week, September 15, we are moving from the Metabolic Genetics clinic at Sick Kids Hospital to Clinical Genetics clinic at Sick Kids Hospital. Apparently they want to begin testing us, her parents, and our son, too, to see if either of us passed whatever she has on to her, or if this condition was spontaneous.

I'm nervous, to say the least. We've wanted answers for quite some time now, but the thought that we may get some scares us too. What does it mean for Zoe?
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When I woke up this morning, I knew the day was not going to go my way. Zoe decided to refuse to eat breakfast and to throw a tantrum because I did two things wrong:

1. I gave her cereal before I gave her a drink
2. I gave her the wrong drink

She ended up having a chocolate nutritional supplement instead.

I was scared for today. I'm not sure of what I was most afraid of; finding out she has a condition, or finding out all the tests were normal. Part of me hoped the tests would reveal something so we could start treating it and have closure, while the other part of me wished it would all be normal and I could wake from this dream to find Zoe a healthy, normal, developing child. I suppose I'm still grieving.

We picked Daddy up at noon and began our trip to Toronto's Hospital for Sick Children Metabolic Genetics department. Daddy was tired, so I drove. That is until a transport truck nearly hit me from behind in Oakville. I was forced to slow to 70 because of a traffic jam, meanwhile, the transport truck was still doing 100, and only changed lanes when he was within one inch of hitting us. Scared, I turned off on the next exit and switched spots with Mike. I've only ever driven the 401 at night when it's an empty road, not when it's as crowded with psychotic drivers in heavy vehicles capable of killing others.

I was supposed to meet a friend for lunch (Sorry, Laura!) but didn't make it. We finally arrived at Sick Kids at 2:00pm and made our way to the Metabolic Genetics department, where the kids, both Zoe and Isaiah, played with the toy kitchen, coloured and watched Phineas and Ferb. Finally, 3:00pm rolled around, and to say I was nervous is to say the least.

"Is this Zoe?" the nurse asked. I replied that it was and promptly sent Mike a text message to get his and Isaiah's butts back to the clinic, as we were about to go in. The nurse took all of Zoe's measurements; head circumference, weight, height.

Height: 90.1cm (2' 11.47") (5th Percentile)
Weight: 27.1 pounds (12.3kg) (6th Perentile)
Head Circumference: 44.3cm (17.4in) (-2.9 Standard Deviations)

The head circumference growth was good news. That was up .3cm since they last saw her.

The nurse asked a few questions, mainly about any new developments, positive or negative, and we told her about the seizures Zoe has been having, and that she is already scheduled for an EEG in September. We also let her know about the saccadic eye movements and the clonis reflex in her left leg. The nurse and the resident doctor we saw next tested the reflex and the clonis wasn't evident, suggesting it is a post-seizure reflex. We explained to her, the resident, and the geneticist that the neurologist in Hamilton (who actually used to work at Sick Kids with Zoe's geneticist) suggested that because Zoe's seizures only appear to happen in her sleep, that she's having two seizures; one, a small one, somewhere in her brain, to wake her up in the night before she has her visible seizure, followed by the visible seizure. All three of them said it made perfect sense.

Finally, it was time to get the results.

The geneticist came in and told us that her microarray testing was normal. The basic mitochondrial testing was normal. All tests but one were normal. She tested for elevated amino and organic acids, but he suggested that it may have been because she ate before her test. Honestly, I can't remember that small detail. The geneticist wanted to see if that would lead us down any path, and ordered the amino and organic acids retested. He also ordered a test called MIDNA Depeletion Panel, which is a more advanced mitochondrial test only available in the USA. Her bloodwork will be sent to a lab in the States for testing, and thankfully, it is covered by OHIP. He also is referring her to an opthamologist. Finally, he is having ordered a repeat MRI to be completed between December 2010 and June 2011 to check on the progression of the condition. Barring any abnormal test results from the MIDNA depletion panel, she will see him again next July.

Finally, we asked him if he has ever seen a case like Zoe's before, and he said yes. He has been seeing a little boy for six years who presents with the same MRI pattern, the same delays, the same symptoms, the same facial features; he says as if they could be twins. But before we got our hopes up, he quickly told us they've been putting him through tests for six years and still have not found a gene, a sign, a positive test, a diagnosis. He has been through every test they can give him, multiple times, and they cannot find a diagnosis. All the geneticist is doing for him now is treating his symptoms, repeating MRI's once a year and seeing him for followup once a year. He said given the young boy's circumstance, we shouldn't hold out hope; it is likely we will not ever find out what Zoe's condition is.

Which begs the question: If we know it is unlikely we will find out Zoe's condition and what is causing her microcephaly, is there a point in continuing to put her through the torture of test after test, when we know what the outcome will be?

It's a struggle, but we'll take it one step at a time. We will probably continue testing for now, because it's possible that maybe she has something a little different than this young boy does, and maybe one day we'll find a clue or a path to explore. For now, the puzzle pieces lay scattered across the floor, and they all fit somehow, but how they all fit together, is something we're still trying to figure out.
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Oblivious. 07/18/2010
 
I wish I was, like Zoe is. She hasn't a clue what is about to happen tomorrow, and I am glad.

Tomorrow afternoon, the four of us will be making the long-awaited drive back to Sick Kids Hospital in Toronto, Ontario to hear the results of Zoe microarray testing. To say I'm anxious is to say the least. I'm anxious, I'm excited, I'm scare, I'm happy, I'm a whole range of emotions that I don't know what I am. I do know that I probably won't sleep tonight.

I'm anxious, happy and excited that we may finally get some answers to Zoe's condition tomorrow, but I'm scared of two things:

1. We will not find out Zoe's genetic condition that is causing her microcephaly
2. We will find out that whatever Zoe has is life-threatening, and we won't have her around for much longer.

Ridiculous? Overreacting? Phobic, perhaps? Maybe...but valid at the same time. We have lost too many angels in our groups and I fear every day that my Zoe might be one of those angels who, one day, earns her wings too soon.

So to recap, this is what we know:

1. Zoe has microcephaly
2. Her brain MRI confirms a genetic condition, currently unknown, that is either eating away at or preventing a signal from connecting the gray and white matter in her brain
3. She has saccadic eye movements and clonix reflex in her left leg. This suggests that both cerebral hemispheres are affected, (eye) the right side affected moreso than the left (clonis reflex), and the cortex worse than anything
4. She has seizures, kind, severity and where they are coming from currently unknown.

Will update with what we learn tomorrow night.

Pray for us.
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Zoe woke up at 3:15am this morning, knocked on her door, and when her Daddy opened the door, pointed to her bed and said "Look, Look". Daddy went to the bed but couldn't find what he was supposed to be looking for, so he went to the kitchen to get Zoe a drink.I came upstairs from sleeping in the basement (darn this heatwave) and Daddy asked me to give her some Tylenol. She didn't have a fever, but she has been having a runny  nose and a slight cough for the last few days. I gave her a dose of Tylenol, and no sooner than a few minutes later did our world turn upside down again.

"Okay Punky, it's time to go night-night's again," I said to her Daddy was in the washroom. I laid Zoe down on her side, and laid down next to her. 30 second later, at 3:20am, Zoe turned to face me with a fearful look on her face. Her eyes were wide and unblinking, her expression was that she was afraid, and then it happened. For the next 15 seconds, her hands twitched rapidly, while her body thrust. She appeared to be attempting to gain control of her body by trying to place one twitching hand on top of the other. Her hands were twitching more rapidly than the rest of her body. I placed my arm around her, and said her name, but there was no response. Just the blank stare of fear across her face, unblinking. And just as quickly as it started, it was over, followed by the high-pitched, strange cry she produced, that I had never heard before. She immediately reached for me, and less than 10 minutes later, was sleeping again.

Now, if you know Zoe, when she wakes in the night, it takes at least two hours before she goes back to sleep.

So, after seeking some assistance and opinions of other Micro parents, I took Zoe to the hospital out of town, a Children's hospital. En route, Zoe had another "episode", like the first, about the same length. We arrived at 8:30am, and around 10am, were seen by a resident doctor. By this time, we had two nurses see her and tell us it sounded like a seizure. The resident doctor said the same, and FINALLY, called up to pediatric neurology. The doctor took down our family history, Zoe's medical history, etc, and decided she needed to consult the head neurologist. She was also convinced that Zoe was having seizures.

Three hours later, the head neurologist came to see us. He had taken a look at Zoe's MRI scan from December, and shed a little more light. He explained that she is missing or has damaged myelin, a white coating over some nerves in her brain, and that the connection between her white matter, which sends the signals to the brain and body, and the gray matter, which holds the cells in the brain, is severelyy disrupted, and it is definitely being caused by a genetic condition. Which one, we do not know yet. He told us that this signal is disrupted in both hemispheres of her brain, and most affected is the cortex. This does one or both of two things: Causes developmental delays, and causes seizures.

He said by what I described, she definitely did have a seizure, and given that both sides of her body were affected, it was a generalized seizure. He mentioned that he wasn't convinced she was having absence seizures, as we have suspected, as this would mean she would have to have a second, unrelated genetic disorder, but that it's not impossible.

He also tested a few reflexes and found her to have a clonis reflex in her left leg. This means that rather than a smooth reflex, her reflex has an extra set of "beats" to it, and is more jerky. She also has an issue with her eyes, saccadic eye movements, meaning that when she's following an object, rather than following it smoothly, her eyes tend to jump in position to follow it. He says both of these are related to the unknown genetic condition that she has.

As a follow up, Zoe will be scheduled in for an EEG within the next two weeks and we will receive a call based on those results. The neurologist did not want to pursue any testing, as Zoe's microarray will be back on the 19th. He also does not feel that seizure medications are necessary at this point.

Welcome to the Seizure Club!
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