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:


  1. Aye, the healthcare system has failed in so many respects that it's a wonder the outcry is not louder than it is. What I experience, reading entries like these, is not schadenfreude, I think, but rather reassurance in that I am not batshit crazy as I struggle with medical care myself. Even textbook-perfect medical conditions fall through the cracks, now what are people with unusual conditions supposed to do?

    Too often, a doctor will just throw up their hands and say: "I don't know how to treat this. Go away." It falls to the patient to become educated and active in their own medicare. In fact, there are signs in most of the local hospitals (at least in Ottawa, there were), advising everybody to become active in their own medicare. But when you actually come to a doctor's office and you're well-informed, they're often angry with you. Why? You tread on their god-complex. It's horrifying to a doctor when a patient knows more about something than they do. What they don't realize is that it's equally scary to the patient. While the doctor is thinking: "Well now I look foolish and uninformed," the patient is thinking: "Oh god, NOW where will I find help?"

    I'm quite relieved that you've managed to find some physicians who aren't asshats who are willing to help you. That is no small feat. I've been to doctors who could help but didn't want to because they had ethical problems with my condition. (Why is my body a political battlefield?) I've been to doctors who could help and wanted to but weren't allowed to because of an insurance company who said "no" or the government decided it wasn't in my best interests (without any knowledge of who I am or what my personal medical mosaic is ... to put it nicely.) to receive medical care. I've been to doctors who would be more than happy to help if I paid them a substantial amount of money. I've been to doctors who would be more than happy to help but live in another country, sometimes on the other side of the Atlantic. I've been to doctors who are quite enthusiastic to "fix" me but want to do something completely counter to my wishes. The list goes on and on. You know, I count myself lucky to have found one doctor who gives a shit, is able to help (knowledge-wise, and legally), and willing to help even if he is two hours away by train.

    When I read your blog, I realize that people can and do get through these things. Despite what my phobia says, not all doctors are evil. Though I think some of the pieces of work I've been to eat babies and kick puppies. Here I whine and complain about friends having certain dietary requirements and I can't bring this or that to their party cause they can't eat it but so and so has other requirements so I can't bring THAT either ... and then I see what you do with zucchini and I say, "Ethan, friggin suck it up. You're North American middle class with grocery stores within a 30 minute walk, connection to resources on the internet to help you, get out there and make it work!" And then I use pears instead of apples, rice flour instead of wheat, and realize "Hey I can do this." That's a big thing that everybody needs. "Hey I can do this," goes a long way.

  2. What a great comment, Ethan! Thanks for that. I know it can always be frustrating navigating a system that is a 'work in progress', and sometimes I wonder if we will ever get it right. We're very lucky to have met some individuals, specifically our pediatrician and his staff, who are getting it right. Their attitude, more than anything, gives me faith.

  3. (I wish you lived here... I find the medical support and options far better. You would be with Kids Ability is there something near you like this?)

    You only have high school??? I am shocked! I have talked about you and your journey to friends and family as I think about you often... and praise how much you have come through for me with suggestions and information that correctly tackle so many issues... from Kaelan until now as the issues are less, I will never forget your support. When I am asked these days what my support is being a single Mom, I mention a few... and YOU.

    I have called you the most resourceful person I know, GENIUS, with the ability to self teach and understand things that many others never could, so overwhelmed yet the first willing to jump the the aid of another... I wish there was a term for you that we could use, in the situation you described as embarrassing, world known to recognise that regardless of your credentials on paper... you are well educated above average.

    Both you and Jon, I cannot praise you enough. Give each other a big hug for me and know it comes with much love and admiration for how truly amazing you are.

  4. Lovely blog Jenn. As a parent of an adult with a rare chromosome disorder & autism (both diagnosed in her twenties), I wish I could offer hope re the system but if you've ever read my blog, you can see I'm still navigating through choppy waters!