Sunday, 28 August 2011

What I Would Have Told You

Part One:

Sometimes, sitting in a doctor's office is a very frightening and overwhelming experience.  Especially when they get to the questions.  I cannot tell you how many times I have been asked "What is your level of education?"  And I have honestly been horribly embarrassed to reply, "Uh, high school."  And when I say embarrassed, I mean the soft spoken eyes cast on the floor as I gently kick at an imaginary rock variety.  Even as I type this I feel my cheeks heating up.

I would have told you that my formal education stopped at high school, but my capacity to learn has continued.  This is a good thing, because without this, my son may well have been lost along the way.

I would have told you that I'm not sure why I fought so hard against an initial diagnosis of Autism.  Perhaps because I'm hyper analytical, or maybe it's just plain stubborn.  I know that I have likely frustrated many of our therapists.  And I am completely sure that I have backed more than one Doctor into a corner.  I know that I have stumped a few with my questions, and angered a few with my stubborn approach.  I have certainly been dismissed by more than I care to admit. There have been naysayers (just take the diagnosis and be done with it) as well as a number of positives (it sure doesn't look like Autism to me) and a few other interesting characters along the way.  I fully expect that many of them believe I am crazy.  But I'm okay with that.  Because the reason I am the way that I am is because my son needs me to be.  As it turned out, my little blonde boy has a genetic anomaly.  And it's rare.

Genetics are a tricky subject, and the science behind it is still, after all of these years, in it's infancy.

You see, all of our DNA is encoded with genes that tell us how we are supposed to develop.  It is sort of like our unspoken human tradition that guides us through all of our milestones. When there are missing or extra genes, our bodies get mixed messages, and we develop in an atypical manner.

The happy noises of a boy that could not move his mouth to imitate sounds:

What would I have told people, if I knew then what I know now.  First, my son is unique in his genetics, but his symptoms are commonly found in children with chromosome abnormalities.  He has feeding issues, present at birth, not well understood at the time because I had never nursed a baby before. His little body has mixed tone- truncal hypotonia (low muscle tone in trunk region) and limb hypertonia (arms and legs are stiff).  He has hypoplasia of the enamel, which I did not cause by feeding the wrong things or not caring for his teeth- they formed this way. There is oral defensiveness, he is missing one tooth and has one peg shaped tooth. He has a high arched palate, and great difficulty with speech and language.  At times he has expressive aphasia, as well as disorganized and delayed speech. He has difficulty with oral motor control and coordination, a severe gag reflex, and difficulty chewing.  He has pectus excavatum, which may (or may not) be from repeated bouts of sleep apnea.  He was plagued by upper respiratory infections until the age of three.  There are chronic GI issues and high fevers.  And the newest term, vestibular dysfunction, which I have just learned about this past week.

If we take a moment to look at behaviour and learning disorders common in people with chromosomal disorders we will see things like Autism, autistic-like tendencies, Oppositional Defiant Disorder, Obsessive Compulsive Disorder, ADHD and Sensory Integration Dysfunction to name a few.  In our case, we see a few autistic like tendencies, but have little if any behaviour issues.

The list of technical terms appears somewhat impressive.  But I did not learn these terms or their consequences in a medical establishment.  I learned about them by reading, and losing many nights of sleep trying to figure out the mystery that has unfolded before my eyes.  I have spoken to many of the world's experts through email, and I am often surprised at just how far they are willing to go to answer my questions.  Sometimes though, I am a little sad about how things have worked out, and immensely disappointed that I have had to search so hard for answers.  Part of this is simply geography, we are from a small town and have limited access to service providers. Part of it can be attributed to poorly implemented system of help for those in need.  From another angle, a portion of it could be lack of communication between health care teams and patients.  One thing is for certain, there are days when I find myself angry at a system of health care that appears be to failing.

So where do the failures come from? And more importantly, how do we fix the systems that led to them?

I would have told you that the diagnosis of Autism has been growing exponentially in numbers since the 1970's. I don't believe it is because of an increase in the actual numbers of patients, but in the number of people with other disorders lumped in. For example, people who present autistic like tendancies are included. The failing is in accepting that diagnosis for the funding benefits, and giving up.  But at the same time, you know you require services, and the only way to get those services is to get the ASD diagnosis.  And then after you receive the diagnosis, your child is somewhat pigeon-holed as far as education is concerned, and when you reach the top of the waiting list for those long awaited therapy hours, you find yourself ineligible for one reason or another.  Each time we lump someone into this expanding group, we move the goal posts, and it appears as though we are facing a new epidemic.

I would have told you that if finding the "right" diagnosis is about meeting a patient's care needs, then a diagnosis of Autism is not helpful in our case.  Once Owen was registered for school, we lost access to the Occupational therapy supplied by our local Children's Treatment Centre, as it was transferred to the local school board.  He will see a therapist during school hours.  The issue is rather murky for me still, since it is not clear how much or how often he will see the therapist.  I am not holding my breath for wonderfully thorough service however, since I am well aware of that the school system is already having great difficulty providing for neuro typical students.  He will no longer receive speech and language therapy either.  The only other therapy option open to him would be Intensive Behaviour Intervention (IBI) - but technically, he is nowhere near the moderate to severe end of the spectrum eligible to receive services, the waiting list is LONG, and as of his next birthday he will no longer be in the age group that is considered highest priority.  On top of that, I know that there are children waiting on this list that are in far greater need of intervention services.

I would have told you that the system is broken, and it's not easy to navigate.  I would have told you that it's not working for us.

I can't pretend to know the answer to  all of these questions.  But I can tell you some of the steps we have taken to help Owen (and others like him)!  Stay tuned for Part ii.

Great resources on the web for children and families with Chromosome Disorders:

Chromosome Disorder Outreach:

Unique Rare Chromosome Disorder Support Group:

11q Research and Resource Network (USA- specific to Chromosome 11q):

European Chromosome 11 Network (again, specific to Chromosome 11):

You can read more about our journey with Owen here:

Friday, 26 August 2011

Almost To Good To Share

Let's call it Oreo Cake, or Cookies 'n Cream, because that is what it tastes like.  Who would have thought that a pound of zucchini could turn into something so glorious!

I wanted a picture of the whole thing, but there isn't much left!

By now, if you have been reading the blog regularly you are most likely aware that Owen has feeding difficulties.  We strive to get quality nutrition in on a daily basis.  Most of Owen's daily calories come from supplemental nutrition in the form of a complete liquid diet.  Anything else that I can get in to him needs to be nutritious, well balanced, and from my kitchen.  This week we spoiled the whole family with a chocolate zucchini cake!  Normally the zucchini would go into muffins or be pureed into a soup for him.

Maybe I'm being a little sentimental, what with school coming in just a little over a week.  Or maybe I'm feeling this way because I am just so proud of him for overcoming so many hurdles in the last year.  Last fall he was still barely speaking.  He had been very ill over the month of August, and his body weight dropped from 30lbs to 26lbs.  He was still in diapers, and I was at wits end trying to figure out how to toilet train him.  He could not dress himself.  He was unable to answer questions.  And I was terrified.

Today, he is up to almost 34lbs, quite the feat when you consider his diet is mainly liquid.  He dresses himself with hardly any help from me.  His language is growing daily.  He is toilet trained, both day and night - although he currently asks for a diaper for bowel movements.  I can live with that while we get his tummy issues under control with the help of the gastroenterologist.  I am so pleased with his progress and how much effort he has put in that I felt a celebration was in order.

So why not celebrate with vegetables, cleverly disguised as CAKE!

I don't see any vegetables in there, do you?

Zucchini Chocolate Cake
  • 1 cup all purpose flour
  • 1 cup all purpose spelt flour
  • 2 cups sugar 
  • 3/4 cup unsweetened cocoa powder
  • 4 tsp baking soda
  • 2 tsp baking powder
  • 1 tsp salt
  • 4 eggs
  • 3/4 cup high quality oil- I used olive oil
  • 3/4 cup unsweetened applesauce*
  • 1 lb zucchini*, grated

Preheat oven to 350 degrees.  Grease and flour a 9 x 13 inch cake pan.  In a medium bowl stir together flours, sugar, cocoa, baking powder, soda and salt.  Add the eggs, oil and applesauce.  Mix well.  Fold in zucchini, taking care to ensure that it is evenly distributed.  Pour into prepared pan.  Bake for 50 to 60 minutes, or until a toothpick inserted in centre comes out clean.  Cool completely.  This recipe works for cupcakes as well- it will yield approximately 18 jumbo cupcakes.

Now this is a closely guarded secret.  The frosting....caution!  This is highly addictive, and a little messy!

  • 1/4 cup of butter (or dairy free spread)
  • 1 to 1/12 cups icing sugar
  • 2 tbsp organic coconut milk (do NOT stir first- take the cream from the top of the can)
  • 1 tsp vanilla extract
In a large bowl, beat butter with icing sugar until there are no lumps.   The icing sugar will fly around a bit because it is so light, but this makes a perfect "buttercream" every time!  Once you have no lumps or bumps left, add the coconut milk cream and the vanilla.  Spread on cooled cake.  Voila!

The result?  A little slice of Heaven!  Enjoy!

*****UPDATED October 18th 2011******

The kids loved the coconut cream filled cupcake version!

I ran out of zucchini before I hit the 1lb mark!!!  What to do?  I know!  Carrots!  Surprisingly, the substitutions below did not change the flavour or the texture of the end product!  Hooray!  More variety of vegetables in every bite!  I should mention that I increased the total vegetable amount in this cake to 2lbs.  Even better!

  • 1 lb grated zucchini*
  • 1 lb grated carrots*
  • 1 cup pureed butternut squash* in place of applesauce
For the cupcakes I piped in a small amount of the buttercream frosting (if it's inside the cupcake it travels well in lunch boxes), but these would be great filled with cream cheese!

Birthday Cupcakes!

Sunday, 14 August 2011

Can We Please Stop Here?

I am listening to my little ones play house, and I am struck- in the frying pan to the side of the head kind of way.  They are gently disagreeing- Daisy saying "I want to be Mommy," and Owie saying "No, I want to be Mommy!"  And I think to myself, can we please stop here?

Mommy's a rock star!

Can we live in this moment for just a little while?  Where my little guys think the world of me, and that I am their world?  Before we get to the part where the stuff that goes on outside of our house becomes more important than the stuff that happens inside of it.  Just stop time for a little while, right at the spot where they are still willing to give me the honour and privilege of holding their little hands?  That tiny window where they have a real need and desire for me to be with them.  I treasure it so, and I am suddenly not so sure that I am ready to take a step back and let them go on without me.  I realize that this is a lot to ask, and that life really doesn't work this way, but just this once, can we make an exception?

I am NOT ready for my babies to grow up.

But I guess that it is not up to me, is it?  School is just around the corner for Owie.  I am really nervous about what he will face when he walks out into the big wide world.  I hope they treat him kindly.  I hope he never has to face the harsh words that we have heard in our own backyard.   It would be naive of me to think that I can somehow protect him from the harsh words and ridicule that defines almost every childhood.  But one can always hope.

Only time will tell. 
A quiet moment

One thing is for certain.  Without a doubt, I will be there for my little ones, to dry their tears when it hurts, to share their joy when they succeed, and to enjoy every last moment that we are blessed with.

Tuesday, 9 August 2011

One to Rival the Best!

I will tell you a secret about me.  I hate being wrong!  Jon would surely go so far as to say that I hate it so much, I won't even apologize if I am.  I would beg to differ, because, well, I just don't think I am ever wrong!  This banana bread is *almost* as good as The Best Banana Bread in the World.  Almost!

With school starting in just a few weeks time (GASP!) I have been trying really hard to come up with some items that I can pack in Owen's lunch.  His solid foods are so limited that this is difficult even when we spend the day at home, let alone packing an easy to handle and esthetically pleasing brown bag meal to take somewhere.  He will eat a few types of fruit if I cut them up really small, and applesauce is a perennial favourite, so I am good there.  The only sandwich he will try is peanut butter- so that poses a difficultly because of the peanut allergies that have become so prevalent in our little ones.  Soy nut butter is out of the question.  Since we feel that he does better with no milk in his diet, yogurt is out for the moment.  And even though his tests for celiac disease came back as negative, we would like to reduce the amount of gluten intake.  What does this leave me with?  Yesterday it felt like a whole lot of nothing, but this morning I was ready to face the challenge.

Enter:  Spelt.  An ancient grain, that has been used for over 9000 years.  It is a cousin to our modern wheat, and appears to maintain a higher nutritional content than wheat.  Some argue that this is because modern wheat is inbred.  I am not a chemical engineer so I am not going to weigh in on that comment!  Perhaps the most interesting part about spelt- it behaves somewhat like a whole meal flour when used in baking, but has a lower level of gluten.  Well, that is good enough for me to give it a go- I have tried gluten free baking in the past, and it's not my favourite.  'Nuff said!

My experiment for today was a high quality, lower in gluten, higher in protein and fat banana bread.  This one will definitely become a staple for Owen's lunch box!  Note that I because of texture issues I grind the seeds and nuts in a food mill whenever I use them in baking.  I never liked big chunks of nuts in stuff when I was a kid either!  You would never guess that this bread has nuts in it- hoping you can see that in the picture below.

Spelt Banana Bread

  • 1/2 cup butter, Crisco or olive oil
  • 2 large eggs
  • 1 cup brown sugar (you could easily use less)
  • 2 tsp vanilla
  • 3 large overripe bananas, mashed 
  • 1 1/2 cups unbleached all purpose spelt flour
  • 1/4 cup ground sunflower seeds**
  • 1/4 cup ground pecans**
  • 3-4 tbsp ground flax seed**
  • 1 1/2 tsp baking powder 
  • 1 tsp baking soda
  • 1/2 tsp salt
  • generous handful of chocolate chips
In a large bowl, add butter/shortening/oil, sugar, eggs, vanilla and bananas.  Beat with mixer until smooth.  In a separate bowl mix flour, ground nuts/seeds, baking soda, baking powder, and salt.  Combine with wet ingredients and gently mix.  Toss in the chocolate chips.  Pour into a generous sized (and lightly greased) loaf  pan.  Bake in a preheated 350 degree oven for about an hour, or until toothpick inserted in the center comes out clean.  Transfer to a wire rack for cooling.

**You can omit the seeds and nuts in this recipe but adding an additional 1/2 cup of spelt flour

If you are really interested in the history and nutritional information regarding spelt, you can read more about it here: