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!
Tuesday, December 14, 2010
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!
Sunday, August 29, 2010
Ch-ch-ch-changes
The past month has been full of changes for the twins.
My daughter is talking up a storm, labeling everything, running everywhere, eating me out of house & home and climbing out of her crib. Best of all, she adores her twin brother. She'll bring him his sippy cup, share snacks (on occasion), push him as he sits on a push-toy and generally needs to be around him at all time.
My son has changed so much in the past month. He's turned into a climbing monkey, taken independent steps, cruises with confidence, attempts to get into standing position from sitting, babbles A LOT, shows me his toys, offers me a bite of his muffin but pulls it back at the last second (laughing all the while) and generally enjoying life. It's good. It's very, very good. I'd even go so far as to say that he struggles less with diaper changes! Like his sibling, he needs to be around his sister 24/7. It's like they are each others' fuel or maybe it's the twin connection.
I recall meeting a woman at the lactation clinic when the twins were a couple of weeks old, I was there to get some help with my son's latch. She told me that the twins were very fortunate to have each other and I agreed, not really knowing what else to say (in the early days many a stranger stopped to tell me some droning story about their father's cousin's stepdaughter's aunt who had twins). The woman went on to say how lucky they are to have had each other since the very beginning, "since always" she said. I think of that often - since always - and it warms the heart knowing they are so interconnected yet so different, that they will impact and shape each others' lives and have been since conception.
I love them both so very much.
My daughter is talking up a storm, labeling everything, running everywhere, eating me out of house & home and climbing out of her crib. Best of all, she adores her twin brother. She'll bring him his sippy cup, share snacks (on occasion), push him as he sits on a push-toy and generally needs to be around him at all time.
My son has changed so much in the past month. He's turned into a climbing monkey, taken independent steps, cruises with confidence, attempts to get into standing position from sitting, babbles A LOT, shows me his toys, offers me a bite of his muffin but pulls it back at the last second (laughing all the while) and generally enjoying life. It's good. It's very, very good. I'd even go so far as to say that he struggles less with diaper changes! Like his sibling, he needs to be around his sister 24/7. It's like they are each others' fuel or maybe it's the twin connection.
I recall meeting a woman at the lactation clinic when the twins were a couple of weeks old, I was there to get some help with my son's latch. She told me that the twins were very fortunate to have each other and I agreed, not really knowing what else to say (in the early days many a stranger stopped to tell me some droning story about their father's cousin's stepdaughter's aunt who had twins). The woman went on to say how lucky they are to have had each other since the very beginning, "since always" she said. I think of that often - since always - and it warms the heart knowing they are so interconnected yet so different, that they will impact and shape each others' lives and have been since conception.
I love them both so very much.
Monday, August 23, 2010
Walking on Sunshine
I have some Big News to report: the little guy took his first independent steps yesterday and took a bunch more this morning! I was wishing and hoping that he'd be walking by his second birthday (less than one week away) so I am simply bursting with pride.
My son is fascinated by his twin sister. Whatever toy she is playing with - he wants, if she looks out the window- he'll look out as well, if she laughs and sings - he does the same. So last night she was playing with some toys on the t.v. cabinet and I was holding him in standing position. I was only supporting him by my index finger which was touching his spine. He really, really wanted the toy that his sister had so I gave him a little shove with my finger and, four steps later, he arrived at his destination and promptly ripped the toy out of his sister's hand!
I'm on cloud nine and I can't wait to help them blow out the candles on their second birthday. I think the next year is going to be full of surprises.
My son is fascinated by his twin sister. Whatever toy she is playing with - he wants, if she looks out the window- he'll look out as well, if she laughs and sings - he does the same. So last night she was playing with some toys on the t.v. cabinet and I was holding him in standing position. I was only supporting him by my index finger which was touching his spine. He really, really wanted the toy that his sister had so I gave him a little shove with my finger and, four steps later, he arrived at his destination and promptly ripped the toy out of his sister's hand!
I'm on cloud nine and I can't wait to help them blow out the candles on their second birthday. I think the next year is going to be full of surprises.