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.
Tuesday, August 23, 2011
Sunday, June 26, 2011
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?
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?
Monday, June 13, 2011
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.
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.
Thursday, April 14, 2011
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?
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?
Wednesday, April 13, 2011
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.
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.
Saturday, March 19, 2011
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.
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.
Friday, February 4, 2011
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.
"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.