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?
Thursday, April 14, 2011
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.
Wednesday, January 26, 2011
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?
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?
Tuesday, January 25, 2011
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.
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.
Tuesday, December 14, 2010
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!
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!