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?
Wednesday, January 26, 2011
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!
Wednesday, October 20, 2010
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.
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.
Wednesday, September 29, 2010
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!
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!
Monday, September 27, 2010
"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.
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.
Judging by my infrequent posts it would appear that I don’t have much to say but, really, I do! The accessibility of this blog is freaking me out a little so I’m contemplating making this blog private. It would allow for daily musings and I may even get the nerve to share some photos of the most handsome little boy in the universe.
I recently emailed with a mum, whose son also has creatine transporter deficiency, and she joked that her boy will coast through life on looks alone. I tend to feel the same way about my son. Just because he was born with this metabolic disease doesn’t mean that he was short-changed in the looks department, right? Let’s be shallow for moment and take it to another level, heck let's go ahead and just cross the line: we all know of at least one typically developing kid who didn’t score in the looks department, right? Right? You know it’s true!
I recently emailed with a mum, whose son also has creatine transporter deficiency, and she joked that her boy will coast through life on looks alone. I tend to feel the same way about my son. Just because he was born with this metabolic disease doesn’t mean that he was short-changed in the looks department, right? Let’s be shallow for moment and take it to another level, heck let's go ahead and just cross the line: we all know of at least one typically developing kid who didn’t score in the looks department, right? Right? You know it’s true!