Oh, hey there.

I haven't posted in a while. In years. I ought to go back and read all my posts from the beginning but, truthfully, I'm not up for relieving all of that right now. I don't want to feel all the feelings.

My little guy is now 7 years old and is grade 2 in a what is called a developmental disability class within our local school board. There are 8 kids in his class, 1 teacher and 2 assistants. For the last 8 weeks his communication book has said comments like the following:

He had a not-so-bad day today

He was hitting other students

During library he threw books

Today he threw an iPad across the room and broke it

He had trouble with transitions today

So. Yeah. It's clear to me that they are passed the breaking point and, some days, I feel past the breaking point as well. There are very limited support services at the school due to no funding. He doesn't qualify for speech therapy because he doesn't speak enough. There are no behaviour therapists available to us through the school system. He *might* qualify for behaviour therapy if he had an autism diagnosis which he doesn't have (and we've tried, we've had him tested twice and he is not on the spectrum).We aren't permitted to have private therapists in the school because it goes against union rules.

I work full time. My husband works full time. We also have a daughter who is struggling a bit in school. I'm secretly worried she has CTD but haven't had her tested for fear of the results. Private behaviour therapy might be our only option but, logistically, how would that work? Do parents of a special needs child need to quit their jobs? We could manage on one salary but the thing is, I *like* my job. I like the mental break and intellectual stimulation that work gives me but at what cost?

The weekends are non-stop. I'm totally burning out. Yet all around me people don't talk about this. They just talk about all the therapies they're doing and how much their child is improving.

My guy has made great gains, no question. He speaks quite a bit now (usually single words but sometimes two-word combinations), understands routines and directions, is social and a great sleeper (I am SO thankful that he is a great sleeper). But the meltdowns, the tantrums, the throwing food, the throwing dishes, the hitting, the screaming, the "yard sales" (where he takes off most of his clothes and shoes and throws them if he doesn't get his way, usually when we are in a public space) - it's all just too much right now.

He is still on a really small dose of phenobarb but he hasn't had a seizure in 4 years. We need to get him off of the medication and have an EEG scheduled with his neurologist in the new year. A sleep deprived EEG so that should be a fun time. We stopped his arginine-glycine-creatine-SAMe supplements in the spring of 2014. The main reason we stopped is that we felt the testing was bordering unnecessary. He had to have kidney GFRs twice a year, annual overnight EEGs (OMG they were awful), annual MRI (requiring general anesthetic) and annual lumbar puncture (also requiring general anesthetic). If we thought that maybe the supplements were truly working, then we would have carried on. His developmental paediatrician suggested we stop the supplements for a short time to see if we notice any change in him. We noticed none. We waited another couple of months. Again, no changes on or off the supplements so we pulled the plug. No regrets.

We tried medication to treat his hyperactivity this summer which was a bust. We will try again in the new year. It's called Biphentin. Does anyone have experience with this?

Given my 3+ year gap in posting, I have a lot to catch up. I'll write more about Lumos and Cyclocreatine in another post.

I'm also happy to report that I've met many more Creatine families through this private Facebook group.

Dream and You Will See - The Dream Tree Shakers

I know
Trees will grow
And you will climb them all
Someday
Postcards
From afar
Will float and fly into your arms

You need not be afraid
Of dark and stormy days
Weather will change its’ ways
Dream and you will see

Falling stars
Are wishes with regards
Shine
Let the clouds
Comfort and surround
And roll peacefully along

The above lyrics are from a fantastic Chicago-based children's band, The Dream Tree Shakers.

Put Your Hand in the Hand...

I can't believe it's been nearly 2 years since my son's diagnosis. In some ways it's been the longest 2 years of my life and in other ways, if feels like it was just yesterday.

We're beginning the process of prepping him for school. Real school. The big brick building down the street where hundreds of kids go? The place where he'll spend 1330 hours a year in? Yes, that place. He currently attends the most amazing preschool ever along with his NT twin. These people are miracle workers, I swear. Anyway, each day I get a full report from his sister on what they ate, what songs they sang, who they sat next to during music time and a summary of the book the teacher read that day. Great, right? Just what every parent of a non verbal child wants - a full report! Well this week it dawned on me that they won't be in the same class next year. Heck, they likely won't be in the same school. How will I know what my son does all day? How will I know if he did something new or if he sat still or if he played with a toy in a purposeful manner? How will I know if he's being challenged or if he's being ignored? How will I know if he's sad?

I was thinking about this when we were taking the kids to their swimming lesson this morning. I was feeling tense and was so filled with worry when we pulled into the parking lot. We all got out of the car, my husband walked towards the building with our daughter and I was with our son. I usually carry him in parking lots (he's a major flight risk) but this morning I plunked him down, at the ready to scoop him up. Instead of bolting, he took my hand. HE.TOOK.MY.HAND. So mother and son walked towards the building, hand in hand, just like that. I have tried on countless occasions to get him to hold my hand. I've longed to feel his soft little hand in my mine, trusting me to guide him the right way. It's the best feeling in the world. I beamed with so much happiness and pride that the school stuff doesn't seem so stressful anymore.

It will work out, it may be difficult, but we'll make it work. We have to and we will. And it will be ok.

SAMe

At our most recent genetics appointment, we were told about SAMe (S-adenosylmethionine) and it was suggested that we consider having my son take it in addition to his arginine/creatine/glycine cocktail. I don't know a whole lot about it other than it can be used for depression, liver disease and osteoarthritis. Some research suggests that it can have therapeutic potential in treating patients with Alzheimer's. I believe it crosses the blood brain barrier but don't quote me on that.

I'm not sure how this all fits in with Creatine Transporter Deficiency, my limited scientific knowledge certainly doesn't help me wrap my head around it all. I'll find out more at our next appointment this winter and will keep you posted.

In the meantime, check out what awesome things are coming out of the University of Cincinnati. Does SAMe = CincY?

As 2011 draws to a close, I find myself with a renewed sense of optimism and hope for 2012. The last 2 years have been difficult, but not terrible. I'm looking forward to what 2012 will bring.

Treatable Intellectual Disabilites / Developmental Disabilities

I recently came across an amazing compilation of treatable metabolic disorders - 81 in total. Not only does the site highlight the various signs and symptoms of inborn errors of metabolism, it also lists the treatments (where applicable) as well as an explanation of each disease with links to thousands of research articles. It's a one-stop amazing shop designed for clinicians but also accessible to non-professionals like moi. It contains links to 1,296 online resources with access to 2,482 articles!

Check it out: www.treatable-id.org The site has good usability and navigation and contains heaps of info. My only complaint is that the text could do with some a scrub - lots of typos and grammar issues. Then again, these folks aren't in their fields for their writing skills.

The absence of normal 'frees us' by Ian Brown

This story originally appeared in BLOOM, Holland Bloorview's magazine on parenting kids with disabilities.

Without question the most common reaction people have, when they find out I have a seriously disabled son, is “I don’t know how you do it.”

It’s an interesting reaction, because in many ways, the act of physically caring for a boy like Walker is the easy part. Walker is 14, looks about 10, and has the mental function of someone who is about two or three. It looks like he always will. He can’t speak, and because he can’t speak, I don’t know how well he sees or hears, or why he hits his head again and again if I let him, or where he’s in pain. He can’t swallow, so he has to be fed with a tube, and he can’t figure out the routine of going to the bathroom, so he has to wear a diaper. But those are easy problems to fix, albeit time consuming and sometimes a little dreary: a diaper is a diaper, and sometimes it is full and needs to be changed.

What I found more upsetting, practically from the day Walker was born, was a bigger and more unknowable question: did he have an inner life? Did he have any intentions, and therefore did his life have any purpose, any meaning?

That’s a hard question for any of us to answer, but it’s especially hard to answer for a boy who cannot speak or reason, and whose care consumes countless resources and many, many hours of human effort. Because I did that calculation too, when Walkie was an infant: if he lives at 10 per cent of human capacity, and if the care of him reduces my wife and I to 30 per cent of our human capacity, and if my daughter Hayley is set back 30 per cent, because of him—well, add those up, and you have two and a half lives spent to sustain the so-called life of one broken boy. Is that worth it?

I couldn’t tell, and so I spent a lot of time looking for some way of justifying his life, lived as it is in semi-darkness. I found proof again and again, if only I remembered to look in the right places. Walker’s life is not a success measured on any conventional scale of human success: he is never going to earn his living, never mind an income big enough to buy a fancy retirement home for his Mum and Dad; he is not going to go to Harvard or anywhere else that will make his parents proud; he is never going to invent a faster, easier way for people to spend money on the internet. The value of his life, if it has a value, will have to reside in his life, per se, in the sheer fact of his existence.

Gradually, I have begun to realize that he has a way of intensifying a moment, a way of making me take the time to look at it again, more closely, without an interfering agenda. He slows things down, and in the technology-mad world most of us scurry through, that is a valuable talent, even if it is not intentional. When his sister deigns to read to him (she has a busy life of her own) and his face lights up like a beacon, he forces me to pay attention to what is making him engage so intensely: his gorgeous sister, holding this weird contraption we call a book, chanting a story in the ancient rhythms human beings have used to make each other feel things since we first started telling stories. I don’t think he understands a single word, but he understands the importance of that hallowed ritual, and his pleasure is so intense and unfiltered and therefore contagious that I have no choice but to remember how important the act of sharing a story is—fundamental, you might say, to human existence.

When I walk down the street with him, pushing his chair with my elbows so I can lean forward and talk into his ear, out loud, about the sights we behold on the boulevard before us—the return of the white miniskirt, for instance, or the popularity of the clunky Dutch bike in Toronto these days—he goes into thrills of glee. He can’t contribute to the conversation, but he apparently loves to be on the receiving end of one, to be thought of as someone who can listen and appreciate the fact that two people are talking about the world around them. I often forget how important that transaction is. But not when I am with him, because he will not let me forget it.

One of the things Walker likes to do when he’s with me is sweep anything on the table in front of me onto the floor. He knows I’m always watching for this act of subversion, and he waits and waits and waits until I am distracted for even a fraction of a second, and then he makes his move. It’s as if he’s saying, really, how important is that newspaper/glass of wine/BlackBerry? Then he throws his head back and laughs.

For a long time I worried this was evidence that he was a sociopath, that I’d end up one day nattering to him through the Plexiglas of the visiting room at Kingston penitentiary. I must have watched him do it 1,000 times, to my great dismay, before I stopped worrying about why he wasn’t behaving like a normal boy, and began to try to understand him as he was, a boy with an unusual and persistent habit.

Eventually I figured out that Walker knows he is less capable than others (it makes him feel lonely and sad), and that the table clearings are a way for him to show me, once in a while, that he can trick me. At those moments, if only for a moment, we are suddenly equals. I imagine this is a bit of a thrill for him, and even a liberation. But it is an especially great liberation for me, because it allows me to be his equal, in a context of our own making. Yes, smarty pants, I can say in all honesty: you got me that time. And I can be happy for his achievement. We can relate to each other not as we are supposed to, not as others insist we should, but as we can, in a way that makes that moment ours and ours alone. That is freedom—not only of the mind, but of the heart. It is one of the deepest and most unalloyed freedoms I have ever felt.

Walker gives me the opportunity to observe another human being, without self-consciousness: that is worth his weight in gold. (About 95 pounds worth, these days.) I get to love him as he is, because he gives me no choice, and so we can be who we are, weary dad and broken boy, without alteration or apology, in the here and now. He is the antidote to the stark emptiness of the survival of the fittest. He may not be much on the evolutionary scale—“a deleterious effect of nature,” a geneticist once called him—but in my experience he has few peers as a route to developing what Darwin himself in The Descent of Man called the evolutionary advantages of “the social instincts . . . love, and the distinct emotion of sympathy.”

You can say, of course, how can you know any of this? All this value that you imagine resides in Walker’s company—don’t you worry that you’re just imagining it? And the answer is, yes, of course, I may be imagining it. I may be dreaming. But the average father of the most normal children doesn’t know a lot of the time if he and his sons and daughters aren’t making up or imagining the bond between them. Every human relationship exists, in one way or another, on the level of illusion. Only a fool, or someone intent on disappointment, pretends otherwise. At least Walker and I don’t compound that confusion with words.

It’s the very lack of so-called normal expectations, the absence of the possibility that we can ever “achieve” much or even disappoint each other, that frees us to be ourselves with each other, to remember who we are and what actually matters, as opposed to what it supposed to matter. That is a great, great gift—and I say that as someone who hates to use the words “disability” and “gift” in the same sentence.

I am beginning to realize that the world I occupy with Walker, my intellectually disabled son, is almost by definition anti-establishment; a world where social orthodoxy and conventional wisdom and received opinions have very little value. That turns out to be a good vantage point.

My only regret is that it has taken me 15 years to see my way to this conclusion—15 years to see through the exhausting demands of day-to-day care of a boy like Walker, to a redeeming value of his life. I can’t help but wonder why it took so long, or why I had to conduct the search on my own. I also wonder why the medical profession, and the care profession in general, don’t help parents toward these insights—as the church might have in the past.

But this is a scientific age. Walker would not be alive today were it not for brave and brilliant medical technology. Medicine allows these children, who would not survive on their own, to live, thus creating what amounts to a new strain, a new genre, of human being. But once they leave the hospital, the parents of a disabled child are on their own (especially if the disability is one no one knows much about, and there are lots of those). It’s not just the punishing and seemingly endless routine that makes 24-hour-care of the disabled onerous and crushing: the absence of any apparent meaning to the work, of hope and purpose, is equally daunting.

Could the medical and caring professions make a contribution here, by teaching parents and caregivers how to measure success in less obvious and less quantifiable but equally important ways? I know it’s not their natural purview: they prefer results, and replicable ones at that. Even so, a few far-seeing hospitals (Toronto’s Hospital for Sick Children, for one) and some medical specialties (genetic counselling and developmental pediatrics) have begun to introduce the conversation into their training. But it should be standard practice, for the sake of the doctors as much as the parents.

The value of the human spirit, even at its subtlest and most obscure, is a question the whole world always needs to question, and answer.

By Ian Brown – 2011

The Boy in the Moon has won three prestigious Canadian awards and Ian Brown's reporting and writing have won more than a dozen national magazine and newspaper awards.

Supplement update

A while back my son had a supplement strike and refused to take his creatine, glycine (liquid compound) and l-arginine (liquid compound). We tried mixing it with everything and anything but he flat out refused them. I wound up mixing them with sugar and squirting them in his mouth but you can imagine how well that turned out. A real battle of the wills!

So now we're back to the powdered versions and it's made a world of difference. They still taste terrible (to me) but when mixed with applesauce or yogurt, they go down easy. I have concerns about mixing them with dairy (something seems not right about mixing them with other amino acids) but I've been assured numerous times by his doctors that it does not matter.

The little guy's now THREE and tipping the scales at a whopping 28.5 lbs, here's his daily dose roundup:

Creatine 1.3g x 4/day
Glycine .65g x 3/day
L-arginine 1.75g x 3/day

Is low weight common amongst kids with Creatine Transporter Deficiency? I give him full-fat everything (mostly healthy fats) and as much food as he can eat, though he is a light eater.

That's all for now, not much to report. Preschool is back in session and we'll still figuring out our new groove. :)