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. :)

Articles of Interest + Mito + Misc update

We've been busy having a super fun summer which hasn't left much time to post here. I want to remind you that I keep a list of current research articles on the right-hand side of this blog. You should check them out if you're looking for more info on where the science is at with creatine deficiency syndromes. Also the UMDF (United Mitochondrial Disease Foundation) will soon have a page dedicated to creatine deficiencies, specifically creatine transporter deficiency as it presents as a mito disease. Click here to find out more about Mitochondrial diseases.

My son has a couple new words but seems to get stuck on the new ones, sort of like how a song gets stuck on a scratched record. The latest is "all done" (sounds like "ah doon") and I was so excited by this that I clapped and cheered everytime he said it. If he knew what he meant, I doubt he does now. My enthusiasm led him to say this for everything: finishing his food, wanting to move on to another activity, wanting out of the wagon, wanting to be picked up, wanting to be put down, wanting a drink, wanting more food, not wanting his dog near him, wanting to wear a hat, etc..

So now we're stepping away from the verbal and focusing more on the sustaining joint attention and using gestures. I'd like for him to have a good foundation of non-verbal communication before we move on to the verbal. I don't really see the latter happening without it.

Err, scratch that.

Mere days after my last post, my son had a seizure. Sigh. It completely blindsided us as he'd gone 1.5 years without one. We were at a gross rib fest, it wasn't a hot day, everything was normal and great up until a few minutes before the seizure.

I knew something was up when he refused a french fry. Fries aren't an every day thing for the kids and are NEVER turned down so my guard was up. What kid of mine would refuse a fry? After the fry refusal, I offered him some bread which he slowly started to munch on as his eyes began doing that funky pre-seizure thing. I knew it was go time so I shouted for my husband who came running. Our son started convulsing and I managed to get him out of the stroller and lie him down under a pinic table for some shade. Gawkers ensued. It lasted around 4 minutes but felt more like 400 hours. Thankfully this time around I didn't melt into a hot mess of freakout though I was tempted to freakout on the gawkers (PSA to all potential gawkers: this is not appropriate behavior.)

Despite the yuck factor of the traveling rib festival* we quickly summoned the event medics who arrived in a flash with an oxygen tank. Whew. After a little oxygen, my son started breathing again, his lips weren't blue anymore, and the color came back to his face. We later got checked out at the hospital and then sent home with instructions to raise his phenobarbital dose to his previous level. If we hadn't been at this place then we wouldn't have received such prompt attention and it would have been a much more serious situation.

So, it doesn't look like we'll be getting him off the meds anytime soon but we are at about 65% of his original dose which is still less than before and now his new holding dose.

* Yes, they travel from place to place! How do they safely store their food? Where does it even come from? And more importantly, WHY?

Weaning..

A few months ago, in consultation with my son's neurologist and developmental pediatrician, we began weaning him off his anti-seizure medication (phenobarbital). For obvious reasons we were very nervous at the prospect of another seizure (tonic-clonic is his signature seizure). My mind often wanders to a slow motion replay of him convulsing, foaming at the mouth, turning blue and stopping breathing. My heart goes silent and it feels like I am witnessing him die, over and over again. Memory can be a terrible thing at times.

So why are we weaning him? Well despite trepidation we're anxious to see how being off the medication affects his development and behaviour (if at all). His last overnight EEG was crystal clear (though perhaps the phenobarb had something to do with that) which is comforting. Either way, we're now at the halfway point, down to 22.5mg/day, and so far there have been no ill effects. We're weaning very slowly, going down 7.5mg per month.

Of course whenever he's sick (like the horrific stomach flu/strep throat combo we all had last month), hungry or overtired, I'm on high alert for seizure activity. Much to my surprise and delight, he has had none. I suspect the true test will be when we enter flu and cold season this fall as he'll be fully weaned by then.

I wonder, do all kids with Creatine Transporter Deficiency have seizures? Is this just a little kid thing that he'll grow out of? Does the creatine/arginine/glycine treatment do anything to control the seizures? I don't know.

Conversations

I'd like to link to a conversation between Dr. Joseph Clark of the University of Cincinnati and a parent whose son was recently diagnosed with Creatine Transporter Deficiency. I find the dialogue exchange helpful and comforting.

Questions from a Parent of a Newly Diagnosed Creatine Transporter Deficiency Child

My only question is how can I - holder of an arts degree who hasn't taken a science course since high school - understand if a mutation (novel or otherwise) is considered severe?

Supramalleolar Orthoses

Say that three times fast!

The little guy saw an orthotist today who fitted him for a fancy pair of custom SMOs. It took three of us to restrain him during the casting and there were casualties: the orthotist got kicked and had her hair pulled, the physio was bitten and I got pinched. I'd venture a guess and say that he wasn't too happy with the situation. Still, after three attempts, we had an acceptable cast and now we don't need to do this again for another year.

The SMO is a plastic moulding that goes around the foot and ankle and is worn as an insert in regular shoes. His SMOs should help his feet positioning and gait so all good stuff and certainly worth it.

I don't know if hypotonia and foot alignment issues are common to his Creatine Transporter Deficiency diagnosis. My son's first MRI did indicate damage to the brain that is commonly seen in those affected by cerebral palsy (his initial diagnosis)so perhaps that is where the link lies.

Either way, I'm happy to just keep on moving forward and help my son reach his full potential. I just need to ignore the grumbling complaints from my wallet.

Moving on up?

What a difference a year makes. Almost exactly one year ago, at 19 months of age, my son was given a diagnosis of Creatine Transporter Deficiency (actually,Creatine Transporter Defect though I don't like thinking of him as defective). From 18 to 19 months, he was (mis)diagnosed with Cerebral Palsy and we were told that he had many red flags for ASD. So, yeah, you can imagine how lovely it was to receive a diagnosis of Creatine Transporter Deficiency on top of everything else; something that we, and no one in the community, knew anything about.

I can't say that we're okay with the diagnosis, we never will be, but we're much closer to being at peace with it. Our train derailed but we're back on track, truthfully there's nowhere to go but forward so what's the point in being stuck in time? Having a case of the perpetual bitter-boots does not good company make, even for one's self.

So, what difference does a year make? A lot if you factor in therapy! (Not that kind of therapy though I likely need some with a side of barbiturates perhaps.) I'm talking speech therapy, occupational therapy, physiotherapy, and developmental therapy. In my mind I thought the various therapies would be short lived but, with the exception of physio, that won't be the case as the therapies will need to be ongoing. I'm understanding more and more that it will take my son a lot longer to learn adaptive skills (if ever) and that he'll need supports to teach him how.

In March 2010 my son had just started clapping his hands, pulling off his socks and making consonant sounds. He could pull to stand and cruise furniture a little bit and had mastered the four-point crawl. I don't think he understood much of what we said to him, in fact I don't think he understood anything at all.

Now, in March of 2011, he walks, almost runs, is determined to climb the stairs on his feet, waves bye-bye, points with his hand, responds to his name (7/10 which I think is on par with his typically developing sibling) and, best of all, understands a lot of what we say to him (basic speech). He can understand simple one-step directions of daily routines which is so awesome because now he can get his own jacket or shoes so, really, he's lightening my load. Attaboy! Maybe one day soon I'll be able to finish a cup of coffee in one go. Clearly he has developmental delays and always will but he is progressing, albeit slowly, which gives me comfort nonetheless.

Why so reflective? Well, we're approaching a battery of annual tests (MRI/MRS, developmental ped for neuropsych, developmental neuro, geneticist, speech/language assessment, kidney GFR, VEEG) and I want to remind myself (and you if you're in the same boat) that it doesn't really matter what the tests say. What matters is that my kid is happy, loved and leads a full life. That we continue to strive towards the next milestone, that we accept that he's doing things on his own timeline and that we take time out to just love him, for him.

I'm not being complacent but I don't want to put all hope in his treatment and tests - what happens when I'm told there is no creatine uptake in his brain? And will it really matter? I suppose it would if I was hoping, by some miracle, that he'd be "cured" but I know that he can't be cured and I'm actually ok with that. It's so easy to get bogged down with the science of it all. I will always advocate for him and for more research but I just want to take a break from the "what if" and enjoy the here & now.

Role of Creatine in ASD?

There are some interesting studies underway that examine the link between creatine deficiency syndromes and autism spectrum disorders. Here's an excerpt of one study (pdf):

"Prevalence of Creatine Deficiency Syndromes and Genetic Variability in Creatine Metabolism in Children with Autism Spectrum Disorder – A Pilot Study"
A red flag before autism symptoms appear? Researchers at the University of Toronto feel they may find an answer in a genetic link to creatine deficiency. For a little background, creatine deficiency syndromes (CDS) can present with developmental delays, autistic symptoms, and seizures. Creatine is also known for its neuro-protective role in the brain. However, it is not well known how often CDS occurs in autism spectrum disorders (ASD). But researchers speculate that a genetic variation in creatine metabolism may be a treatable factor in the cause and onset of ASD. If this is the case, future screening and treatment for this genetic component may allow for future intervention to improve the core symptoms of ASD.

Supplements

I mix my son's creatine, l-arginine (compound) & l-glycine (compound) with apple juice 3 times a day and his 4th dose of creatine with water. I've asked the good doctor if it matters what the supplements are mixed with and whether I administer them with food or on an empty stomach. I've been told that it doesn't matter.I've since spoken to a couple of parents in my situation or a similar one and they've been told that it does indeed matter.

A few parents I know juice various fruits and give each supplement separately, on an empty stomach. Now that is admirable but how does they do it? I'm serious. Wouldn't that require administering them 10 times a day on an empty stomach? I think I must have misunderstood. Anyway, another parent was told to mix the supplements in juice or water and administer them on an empty stomach (1 hr prior to eating or 2 hr after). Some use the powder form and others the compound.

So what's the dealio? Does it really matter? How do you administer supplements to your child?

General update

It’s been awhile, I know. We’ve made some good gains in the past month or so, most notably on the gross motor front. The little guy is gaining confidence on his feet and his gait is improving. Whew. It’s so nice to see him moving around and checking out the world from his standing height. Perhaps he finally got bored of constantly looking at people’s feet, checking out the dog’s dirty paws and eyeing the dust bunnies under the couch.

He does appear to understand more of what I say and can follow simple one-step instructions like “go to your highchair”. Whether or not he has words is up for debate. He seems to say “cah” for car when one drives down the street but the other day he was saying “cah” while poking the dog’s eye. So, yeah, not sure about that one. We definitely have “bubba” for bubbles and we seemingly have “cahcah” for cracker but only with a specific box of crackers. It’s not much but I consider this to be a huge gain.

In other news, the little guy is going to be starting preschool at special needs school in the city. I am so excited for this opportunity! He’ll have 1:1 attention and will receive OT, PT and speech in a customized plan just for him. Awesome! I’m also secretly looking forward to the break. We don’t get any respite and it’s starting to wear on us.

He recently had his GFR test (normal) and his overnight EEG (also normal).

I need to take a moment to complain about the overnight EEG: it is a giant pain in the ass for everyone involved! 30 minutes into the 16 hour test and he managed to rip off 3 leads, poor kid. I can only imagine how uncomfortable the procedure must be for him. This happened at 4pm on a Friday and the technician, about to go off shift for the weekend, was NONE too pleased with us. Perhaps that explains why she then superglued all the other leads in. So much so that now, two weeks later, there are still giant chunks of glue bits in the little guy’s hair. Also, keeping an active two year old in front of a camera for 16 hours while preventing him from ripping off his leads? Not easy.

Community

In order to have a successful blog, one must post regularly, if not daily. I'm afraid I just don't make the cut. But here's what drives me to post:

1. Noting progress in my son's development.
2. Seeing his various medical doctors on a quarterly basis.
3. Feeling angry and insurmountably sad that he was born with this condition.
4. Being hopeful and somehow connected to others who completely understand exactly what my family is going through.

Item number 4 is what keeps me going and, in doing so, I'm less focused on what my son isn't yet doing nor do I have the time to be angry at everyone. This is a huge step for me! Not long ago, I loathed every typically developing kid in the playground. Simply seeing a toddler run by me made me want to trip it. See? That's just not right and blogging about it would only make me feel more irrational than I already am.

Back to the hopeful part. I've been meaning to set up a community forum for some time now, a place where others affected by creatine deficiencies could relax, share and, most of all, be understood. I know that for me, I'd like to share a lot more but don't feel that this space is appropriate for that. So, once it's set up and ready to go, I'll post the link.

In the meantime, I was absolutely thrilled to receive an invitation to this facebook group about creatine deficiencies. I joined and think you should too!

Connecting

I spend a lot of time googling random stuff on the internet and have clocked hours, if not days, searching for anything and everything related to creatine deficiency syndromes. In my most recent mad and furious google search, I found another family affected by Creatine Transporter Deficiency! I'm now in touch with six SLC6A8 families!

I've emailed briefly with the mother and we plan to connect by phone this week. Her 15 year old son has severe speech delay, moderate intellectual disability and a seizure disorder. He was diagnosed several years ago but they had to wade through many diagnoses for years before this was confirmed. In a way I feel fortunate that my son was diagnosed so quickly. This proves how far research has come in just a few short years. Here's hoping that one day there will be a cure for this.

What is Creatine Transporter Deficiency?

I've started telling people about my son's diagnosis. Until recently I would say that he has some delays and that we see various therapists to help him progress. I was paranoid that they'd google it and find out about the intellectual disability part which is something I am not dealing well with and can't talk about. I'm also tired of pretending he doesn't have a diagnosis and I want to raise some awareness of this rarely diagnosed metabolic disease. Some people might stumble upon this blog looking for information so here it is:

Creatine Transporter Deficiency affects primarily the brain and the muscles of affected children. The creatine transporter is important to move creatine from the blood into the tissues and when it is not working, the body is unable to get it into the cells where it is used for energy production. Clinical features include seizures and variable developmental concerns ranging from mild intellectual disability (sorry, no can do on the MR term that is rampant in research papers and all over the internets but I digress) to more severe forms. Unfortunately doctors are unable to predict where children may fall within this spectrum so us parents get to sit around and obsess over this, especially late at night when exhausted and in desperate need of sleep.

Creatine Transporter Deficiency is a genetic condition caused by a change in a gene (so, a mutation) on the X chromosome. The gene in question is called the SLC6A8 gene and males (XY) are more affected because they have one X chromosome whereas females (XX) have two X chromosomes. It was explained to me that males have no working copy of the gene to compensate for the mutation.

The specific gene mutation was identified in my son's SLCA8 gene and it is a causative mutation given the fact that it stops the protein from being made. Tests confirmed that I am not carrier for the disease therefore this was either a brand new change that occurred shortly after conception (much like winning the lottery, only not) or there is a small chance that I might carry the mutation only in a small proportion of my egg cells. Super!

A really good overview of creatine deficiency syndromes can be found here.

In other random news, our primary computer died during a power outage and our spare clunker is on its way out so...new computer!

"Life doesn't have to be perfect to be wonderful"

I met Joe and his father in the waiting room at the rehab clinic for my son’s weekly physio appointment. My son was crawling all around the waiting room (I gave up on germ management a long time ago) and eventually went up to them, flashed his beaming smile, and broke the ice for conversation.

Joe is 14 years old with global developmental delay. He walks, says a handful of words and seems to be a happy teenager. Joe's dad (never got his name) looked tired, drained and worn out. You could say he was having one of those down days that all of us parents of kids with special needs have from time to time. He commented on the unfairness of it all, how most kids grow up, go to school, leave home, get a job, maybe get married and have kids of their own. He's a single dad who works hard to provide for his family and the strain of worrying about the future was written all over his face. Joe's mother split when Joe was a child, she couldn't handle it. Despite all this, Joe's father claims that it takes special people to raise a child with special needs. I don't believe that.

Of the babies born into this world, some have special needs and some do not. They don’t discriminate. To say that only special people are given special babies rubs me the wrong way because it’s not true. Regular, ordinary people are given special babies -some of them might have four degrees, some one, others none, some have jobs and some don’t work at all. In my opinion, having a special needs child comes down to this: sink or swim. I guess in Joe’s case, his mother sank but his father swims on.

If life were that simple then abusers wouldn't be able to procreate, families wouldn't experience the devastation of perinatal and infant loss and people wouldn't have to experience the pains of infertility. It's often easier to feel that we were "chosen" for this role when, really, we know that it's not true, life can simply be unfair without any explanation at all. Sink or swim, it's up to you.

Life sometimes doesn't work out the way we want it to and that's okay, we just need to keep our heads above water to enjoy what's right in front of us. "Life doesn't have to be perfect to be wonderful" - Annette Funicello.