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.
Tuesday, August 17, 2010
Summertime
I haven't posted much mainly because I've been busy enjoying the summer and working hard not to obsess about my son's diagnosis. Easier said than done.
He had a physical assessment and follow-up appointments with the geneticist and neurologist. We've been given physio sessions at the local children's rehab hospital (once a week for three months) and we will be starting a speech & language program in September called "It Takes Two to Talk". There is also a music program starting up in October through the developmental disabilities centre that I can bring my daughter to so that will be fun. I like the concept of integrated programs and look forward to meeting other families affected by special needs. The fall is shaping up to be busy!
Our meetings with the geneticist and neurologist were relatively uneventful. We again asked the question that only a crystal ball can answer - where will my son be 20 years from now? The only certainties we were given is that he will not go to university and language will always be a problem (I believe the exact words were "his language will never be normal"). Does that mean he'll have trouble reading or will he be illiterate? Will he have difficulty forming sentences or will he be non-verbal? Will he go to a community college or never finish high school? Will he have a job or be completely dependent? Sigh. When I was pregnant, one of the (many) things I worried about was how on earth were we going to pay for their university education. Now I worry how we'll finance the rest of his life. Funny, huh?
On a more positive note, the neurologist said that my son and other young children with his diagnosis and on the same treatment protocol will re-write history. She said that this is an exciting time for research on cerebral creatine deficiencies and that the published papers out there (you know, the depressing ones that say there is no treatment and give a bleak outcome for those affected) are already outdated. She said that we need to focus on early interventions and essentially train my son to learn new skills. It was surprisingly comforting to hear and, dare I say, positive!
We're off to spend more time in the sunshine. My son's new favourite park activity is to crawl up the stairs of the slide and zoom down on his belly, face-first, before I can say go. He's fearless that one, his mama sure has a lot to learn from him.
He had a physical assessment and follow-up appointments with the geneticist and neurologist. We've been given physio sessions at the local children's rehab hospital (once a week for three months) and we will be starting a speech & language program in September called "It Takes Two to Talk". There is also a music program starting up in October through the developmental disabilities centre that I can bring my daughter to so that will be fun. I like the concept of integrated programs and look forward to meeting other families affected by special needs. The fall is shaping up to be busy!
Our meetings with the geneticist and neurologist were relatively uneventful. We again asked the question that only a crystal ball can answer - where will my son be 20 years from now? The only certainties we were given is that he will not go to university and language will always be a problem (I believe the exact words were "his language will never be normal"). Does that mean he'll have trouble reading or will he be illiterate? Will he have difficulty forming sentences or will he be non-verbal? Will he go to a community college or never finish high school? Will he have a job or be completely dependent? Sigh. When I was pregnant, one of the (many) things I worried about was how on earth were we going to pay for their university education. Now I worry how we'll finance the rest of his life. Funny, huh?
On a more positive note, the neurologist said that my son and other young children with his diagnosis and on the same treatment protocol will re-write history. She said that this is an exciting time for research on cerebral creatine deficiencies and that the published papers out there (you know, the depressing ones that say there is no treatment and give a bleak outcome for those affected) are already outdated. She said that we need to focus on early interventions and essentially train my son to learn new skills. It was surprisingly comforting to hear and, dare I say, positive!
We're off to spend more time in the sunshine. My son's new favourite park activity is to crawl up the stairs of the slide and zoom down on his belly, face-first, before I can say go. He's fearless that one, his mama sure has a lot to learn from him.
Wednesday, July 21, 2010
Roll Call
Through this blog, internet searches and our health practitioners I've come across five more families dealing with creatine transporter deficiency. My objective is to allow other readers dealing with something similar to gain an understanding of what lies ahead and not to infringe on people's privacy. They live all over the world, from Australia to Germany to the USA and to Canada!
-An 11 month old boy diagnosed just a few weeks ago and the youngest case I have come across.
-A 2 3/4 year old boy diagnosed in May.
-A 3 1/2 year old boy diagnosed at age 3. Began taking the CTD cocktail (arginine, glycine, creatine) in January 2009 and an improvement in language and developmental skills was noted. Yay!
-A 4 1/2 year old boy
-A 9 year old boy
I've also come across two families dealing with GAMT, one of whom has a 2 year-old boy and the other family has 2 children affected, a boy and a girl.
Anyone else?
In the coming weeks I hope to post links to research papers and articles of interest. If you come across anything you'd like me to post, please email me at crtr.boy@gmail.com
-An 11 month old boy diagnosed just a few weeks ago and the youngest case I have come across.
-A 2 3/4 year old boy diagnosed in May.
-A 3 1/2 year old boy diagnosed at age 3. Began taking the CTD cocktail (arginine, glycine, creatine) in January 2009 and an improvement in language and developmental skills was noted. Yay!
-A 4 1/2 year old boy
-A 9 year old boy
I've also come across two families dealing with GAMT, one of whom has a 2 year-old boy and the other family has 2 children affected, a boy and a girl.
Anyone else?
In the coming weeks I hope to post links to research papers and articles of interest. If you come across anything you'd like me to post, please email me at crtr.boy@gmail.com
Wednesday, July 14, 2010
We're in!
After being on the wait list for 11 months, we are FINALLY going to get a physical assessment next week from the kids' rehabilitation hospital in my city. This means that he'll get services (free to us) at an amazing facility and hopefully we'll see more progress in the gross and fine motor skills department.
At his one-year check up last September, our pediatrician referred him for the assessment. At the time we thought he was just a little delayed but she used "special needs" as a way of describing him which sent us over the edge. She couldn't have known about the creatine transporter deficiency at that time nor could she have predicted that he wouldn't be walking or talking at 22 months. I guess her experience and expertise told her that this was a child who would need extra help.
She is an amazing pediatrician and we are so lucky and fortunate to have her caring for our boy. Had we waited until the CTD diagnosis to get him on the waiting list, I would not be seeing anyone until winter 2011. Still, I really can't help wishing that he didn't have CTD.
Wouldn't it be lovely to wake up in a world where our kids were typically developing? I would give anything to have him say "woof" when I pointed to a picture of a dog. I would absolutely give my heart and soul to hear him say "mama" or "dada" but I need to work on becoming more patient and enjoy today rather than worry about tomorrow.
At his one-year check up last September, our pediatrician referred him for the assessment. At the time we thought he was just a little delayed but she used "special needs" as a way of describing him which sent us over the edge. She couldn't have known about the creatine transporter deficiency at that time nor could she have predicted that he wouldn't be walking or talking at 22 months. I guess her experience and expertise told her that this was a child who would need extra help.
She is an amazing pediatrician and we are so lucky and fortunate to have her caring for our boy. Had we waited until the CTD diagnosis to get him on the waiting list, I would not be seeing anyone until winter 2011. Still, I really can't help wishing that he didn't have CTD.
Wouldn't it be lovely to wake up in a world where our kids were typically developing? I would give anything to have him say "woof" when I pointed to a picture of a dog. I would absolutely give my heart and soul to hear him say "mama" or "dada" but I need to work on becoming more patient and enjoy today rather than worry about tomorrow.
Tuesday, July 13, 2010
Progress?
We had a physio appointment today with the most cantankerous woman I have ever met. It was our 4th visit and the only reason we keep seeing her is because a)she's free b)she comes to the house and c)the agency doesn't have another available physio. She's really negative and directly implies that the reason my son isn't walking is because I coddle him and let him play with toys on the floor. Like I need a guilt trip on top of everything else! I do a perfectly good job of feeling guilty for everything all on my own thankyouverymuch.
Anyway, she asked how my son was doing and I told her that it feels like he's plateaued and that we hadn't noticed much improvement over the past couple of weeks. She did her exercises with him and, shock of all shocks, proclaimed that he had made huge progress! I couldn't believe my ears, or my eyes for that matter, because my son was initiating stepping! I don't know what surprised me more, my son willingly stepping or the physio saying something positive for once. It was a day of firsts!
He still has a long way to go but if I stabilize one leg, he will step with the opposite one which is so huge for the little guy. Not long ago I couldn't even get him to bear weight on his feet so I'm thrilled with the progress. I've been so engrossed in the widening developmental gap between him and his twin that I didn't even see what was right in front of me. I think it's time for me to take a step back and appreciate all the wonderful things that he can do instead of what he can't.
Anyway, she asked how my son was doing and I told her that it feels like he's plateaued and that we hadn't noticed much improvement over the past couple of weeks. She did her exercises with him and, shock of all shocks, proclaimed that he had made huge progress! I couldn't believe my ears, or my eyes for that matter, because my son was initiating stepping! I don't know what surprised me more, my son willingly stepping or the physio saying something positive for once. It was a day of firsts!
He still has a long way to go but if I stabilize one leg, he will step with the opposite one which is so huge for the little guy. Not long ago I couldn't even get him to bear weight on his feet so I'm thrilled with the progress. I've been so engrossed in the widening developmental gap between him and his twin that I didn't even see what was right in front of me. I think it's time for me to take a step back and appreciate all the wonderful things that he can do instead of what he can't.
Thursday, July 1, 2010
MacAthur-Bates
Is anyone familiar with the MacArthur-Bates CDI Words and Gestures booklet?
The booklet contains a mountain of questions around the understanding of language and the imitation of words. It asks whether your child can understand things like "are you hungry?" "come here" don't touch" and my personal favourite: "time to go night night". It also goes through a vocabulary checklist and you're meant to indicate whether your child understands a particular word or if he understands & can say the word. Same for pronouns, prepositions, quantifiers etc.. Our son is meant to repeat this test in 6 months to monitor any improvement. It will be interesting to see if the supplements help boost his score.
Our developmental pediatrician asked us to complete it about two months ago but we haven't done anything with it yet. Every time I open it, I feel anxious and a little nauseous so I close it and ignore it for another little while. I guess, in a sense, we don't need to complete it because out of all the items listed (at least 150)we can't check off a single one! Still, he does understand some things that just don't happen to be in that godforsaken booklet. I'm pretty sure he understands "snack" "drink your milk" "blueberries" "no" and "up".
According to MacArthur-Bates, "before children begin to speak, they show signs of understanding language by responding to familiar words and phrases". Looks like we have a long road ahead of us but my sleeves are rolled up and I'm ready to give it my all.
The booklet contains a mountain of questions around the understanding of language and the imitation of words. It asks whether your child can understand things like "are you hungry?" "come here" don't touch" and my personal favourite: "time to go night night". It also goes through a vocabulary checklist and you're meant to indicate whether your child understands a particular word or if he understands & can say the word. Same for pronouns, prepositions, quantifiers etc.. Our son is meant to repeat this test in 6 months to monitor any improvement. It will be interesting to see if the supplements help boost his score.
Our developmental pediatrician asked us to complete it about two months ago but we haven't done anything with it yet. Every time I open it, I feel anxious and a little nauseous so I close it and ignore it for another little while. I guess, in a sense, we don't need to complete it because out of all the items listed (at least 150)we can't check off a single one! Still, he does understand some things that just don't happen to be in that godforsaken booklet. I'm pretty sure he understands "snack" "drink your milk" "blueberries" "no" and "up".
According to MacArthur-Bates, "before children begin to speak, they show signs of understanding language by responding to familiar words and phrases". Looks like we have a long road ahead of us but my sleeves are rolled up and I'm ready to give it my all.
Tuesday, June 29, 2010
Not a carrier
It was confirmed to me today that I am not a carrier for SLC6A8 deficiency.
The mutation they found is one that they haven't seen before so they can't tell us what to expect in terms of severity of symptoms. I am feeling all stressy and anxious over this which is silly because it doesn't change anything as my son will always have this SLC6A8 deficiency. I guess part of me wishes that if it were a mutation they have seen before then they'd be able to tell me what we can expect down the road.
I'm not that surprised as there is no history of developmental delays in my family or my mother's family. Apparently this was just some freaky thing that happened either before conception (!) or in the very early days of my pregnancy. There's a chance that there's something wrong with my eggs which could cause problems for future pregnancies but, infertile as we were, having more children isn't an issue nor is it even on the table. The twins didn't come easily and I wonder if our fertility treatments played a part in my son's diagnosis? I've been told that they didn't but I can't help wondering..
The mutation they found is one that they haven't seen before so they can't tell us what to expect in terms of severity of symptoms. I am feeling all stressy and anxious over this which is silly because it doesn't change anything as my son will always have this SLC6A8 deficiency. I guess part of me wishes that if it were a mutation they have seen before then they'd be able to tell me what we can expect down the road.
I'm not that surprised as there is no history of developmental delays in my family or my mother's family. Apparently this was just some freaky thing that happened either before conception (!) or in the very early days of my pregnancy. There's a chance that there's something wrong with my eggs which could cause problems for future pregnancies but, infertile as we were, having more children isn't an issue nor is it even on the table. The twins didn't come easily and I wonder if our fertility treatments played a part in my son's diagnosis? I've been told that they didn't but I can't help wondering..
Thursday, June 24, 2010
Who else?
I feel like I've scoured the internet and tapped out all of my sources at the children's hospital here. I've only found 2 other families dealing with a diagnosis of Creatine Transporter Deficiency, one of whom blogs at slc6a8.blogspot.com.
Is there anyone else out there? I'm told there are 150 diagnosed cases worldwide (but likely more) and I'm hoping others have taken to the internet to find support. If so, please email me at crtr.boy@gmail.com
It's a lonely ride and I'm trying to be brave for my kid but, truthfully, I've no idea what lies around the corner and I'm scared. I just don't want to screw up, you know? I want to do everything humanly possible to help him and then some.
Is there anyone else out there? I'm told there are 150 diagnosed cases worldwide (but likely more) and I'm hoping others have taken to the internet to find support. If so, please email me at crtr.boy@gmail.com
It's a lonely ride and I'm trying to be brave for my kid but, truthfully, I've no idea what lies around the corner and I'm scared. I just don't want to screw up, you know? I want to do everything humanly possible to help him and then some.
Tuesday, June 22, 2010
Relax, they're just fever seizures
The seizures began when he was 13 months old and it completely blindsided us. To see your child turn shades of blue, foam at the mouth and shake uncontrollably while you look on, completely useless, is terrifying. I had no idea what was going on and the doctors told us that it was likely just a febrile seizure. He had 2 more in the emergency room and 3 more after they admitted us, the last one lasted 10 minutes. After running a gamut of tests, including spinal tap and CT scan of his brain, they found nothing and the neurologist labeled the seizures as febrile and discharged us. "Don't worry, they're common in young children, he'll grow out of it".
The seizures came back with a vengeance in December. We had a series in mid-December, then more between Christmas & New Years followed by a 6 minute seizure at home in early January. By then it was agreed that his seizures weren't just infection related and he was put on medication and an MRI was ordered.
The MRI happened in March (thanks, wait lists!) and the results were reviewed with his neurologist. The scan showed some damage to the white matter in his brain, something they usually see with low-weight pre-term babies or with babies who may have been stressed during birth and lost oxygen (which wasn't my son's case). The damage, combined with his delays, led the neurologist to diagnose him with cerebral palsy. I was shocked, I didn't understand what cerebral palsy really was and what it meant for our little boy.
One month later, when our son was 19 months old, we saw the metabolics team at our childrens' hospital. We knew that his MRI/MRS showed an absence of creatine but we didn't know what that meant. Our neurologist at the time said that it was unlikely that he had a creatine deficiency (we've since changed neurologists). After consulting Dr. Google we determined that it wasn't anything to worry about, not something that could happen to us. Creatine deficiencies are very rare, those affected usual have some level of intellectual disability, severe speech & language problems, autistic-like behaviours and so on. There was no way our son had this metabolic disease. Sure, he was a bit behind and didn't have any words but he'd most likely catch up, right? I was absolutely convinced that this meeting would turn out to be nothing.
Imagine my surprise when we were led to a private room where four professionals greeted us and proceeded to tell us that our son had Creatine Transporter Deficiency. I didn't understand how or why he could have this rare metabolic disease and I didn't (and still don't) understand what this means for my child. Will he be a kid who might need extra help in math class or will he be a kid who won't be going to math class? I think I know the answer but since I don't have a crystal ball and don't happen to know of anyone in possession of one (do you?) I'm just going to focus on the here and now.
The seizures came back with a vengeance in December. We had a series in mid-December, then more between Christmas & New Years followed by a 6 minute seizure at home in early January. By then it was agreed that his seizures weren't just infection related and he was put on medication and an MRI was ordered.
The MRI happened in March (thanks, wait lists!) and the results were reviewed with his neurologist. The scan showed some damage to the white matter in his brain, something they usually see with low-weight pre-term babies or with babies who may have been stressed during birth and lost oxygen (which wasn't my son's case). The damage, combined with his delays, led the neurologist to diagnose him with cerebral palsy. I was shocked, I didn't understand what cerebral palsy really was and what it meant for our little boy.
One month later, when our son was 19 months old, we saw the metabolics team at our childrens' hospital. We knew that his MRI/MRS showed an absence of creatine but we didn't know what that meant. Our neurologist at the time said that it was unlikely that he had a creatine deficiency (we've since changed neurologists). After consulting Dr. Google we determined that it wasn't anything to worry about, not something that could happen to us. Creatine deficiencies are very rare, those affected usual have some level of intellectual disability, severe speech & language problems, autistic-like behaviours and so on. There was no way our son had this metabolic disease. Sure, he was a bit behind and didn't have any words but he'd most likely catch up, right? I was absolutely convinced that this meeting would turn out to be nothing.
Imagine my surprise when we were led to a private room where four professionals greeted us and proceeded to tell us that our son had Creatine Transporter Deficiency. I didn't understand how or why he could have this rare metabolic disease and I didn't (and still don't) understand what this means for my child. Will he be a kid who might need extra help in math class or will he be a kid who won't be going to math class? I think I know the answer but since I don't have a crystal ball and don't happen to know of anyone in possession of one (do you?) I'm just going to focus on the here and now.
Monday, June 21, 2010
When did things go wrong?
A few people have asked when I knew my son was different from other kids.
Depending on the day, I'll tell you that I knew he wasn't a typical child when he had his first seizure at 13 months, or after the twins' disastrous one-year check-up that left my husband & I in tears, or when the occupational therapist started her visits at 5 months, or when my son couldn't fixate his vision at 3 months, when he wasn't smiling on time or when he had his gassy, colic, non-stop crying fits. The truth is, I always knew he wasn't typical, even when I was pregnant. I recall the ultrasound technician proclaiming "Baby A: perfect! Baby B: o.k." at pretty much every appointment.
I've only just recently (like, last month) got over the denial and accepted that my son is not like other kids and never will be. I went through a long denial phase, one where I *knew* something wasn't right but then felt smacked with guilt for even going there. I felt guilty because he is alive, here with us and that should be enough. I shouldn't have to want more, I should be grateful for what I have. I am grateful and I love him with all of my heart and being but I still want more.
I want more for him and (surprise) this isn't all about me. I want my beautiful boy to have the best life possible and be provided every opportunity available to him. I want family members to get to know him, to meet him and to love him (and his sister). I need to be an advocate for him, I need others to advocate for us. Being in denial and not wanting to think about his diagnosis is selfish and my son deserves so much more.
I'd like to tell his story here, to start at the very beginning. Hopefully you'll want to read about him if I promise to keep it short. :)
Depending on the day, I'll tell you that I knew he wasn't a typical child when he had his first seizure at 13 months, or after the twins' disastrous one-year check-up that left my husband & I in tears, or when the occupational therapist started her visits at 5 months, or when my son couldn't fixate his vision at 3 months, when he wasn't smiling on time or when he had his gassy, colic, non-stop crying fits. The truth is, I always knew he wasn't typical, even when I was pregnant. I recall the ultrasound technician proclaiming "Baby A: perfect! Baby B: o.k." at pretty much every appointment.
I've only just recently (like, last month) got over the denial and accepted that my son is not like other kids and never will be. I went through a long denial phase, one where I *knew* something wasn't right but then felt smacked with guilt for even going there. I felt guilty because he is alive, here with us and that should be enough. I shouldn't have to want more, I should be grateful for what I have. I am grateful and I love him with all of my heart and being but I still want more.
I want more for him and (surprise) this isn't all about me. I want my beautiful boy to have the best life possible and be provided every opportunity available to him. I want family members to get to know him, to meet him and to love him (and his sister). I need to be an advocate for him, I need others to advocate for us. Being in denial and not wanting to think about his diagnosis is selfish and my son deserves so much more.
I'd like to tell his story here, to start at the very beginning. Hopefully you'll want to read about him if I promise to keep it short. :)
Friday, June 18, 2010
Treatment Protocol
My son began taking amino acid supplements 6 weeks ago as part of his treatment protocol. He takes arginine, glycine and creatine three times a day and is also taking phenobarbital at night to control his seizures. We're trying not to put much faith into the supplements as we've been told that they may not work but we are still hopeful. Sometimes so hopeful that it scares us.
His dosage for his weight (10kg):
L-Arginine 1400mg x 3
Glycine 500mg x 3
Creatine 1g x 4
It took us a while to find the best method of delivery and taking it with his milk at meals seems to work well. We have to really watch that he drinks it all and doesn't switch cups with his twin sister. Sometimes we mix their cups up and on at least one occasion, his sister drank his meds. Thankfully they are only amino acids and not a heavy drug like the phenobarb. The arginine and glycine are compounds so need to be kept refrigerated which isn't all that convenient especially if we are on the road or at friends. Then again, we have a gazillion things to do just to get out of the house with the two of them so what's one more thing? It will just take a little more time for it to become as automatic as applying sunscreen or putting on mittens. We'll get there.
According to the treatment protocol, bloodwork & urine needs to be monitored every 3 months while on treatment. Overnight EEG is every 6-12 months, kidney ultrasound every 6 months, and then the neuropsychology testing and MRI/MRS is every 12-24 months. It's all a little overwhelming.
His dosage for his weight (10kg):
L-Arginine 1400mg x 3
Glycine 500mg x 3
Creatine 1g x 4
It took us a while to find the best method of delivery and taking it with his milk at meals seems to work well. We have to really watch that he drinks it all and doesn't switch cups with his twin sister. Sometimes we mix their cups up and on at least one occasion, his sister drank his meds. Thankfully they are only amino acids and not a heavy drug like the phenobarb. The arginine and glycine are compounds so need to be kept refrigerated which isn't all that convenient especially if we are on the road or at friends. Then again, we have a gazillion things to do just to get out of the house with the two of them so what's one more thing? It will just take a little more time for it to become as automatic as applying sunscreen or putting on mittens. We'll get there.
According to the treatment protocol, bloodwork & urine needs to be monitored every 3 months while on treatment. Overnight EEG is every 6-12 months, kidney ultrasound every 6 months, and then the neuropsychology testing and MRI/MRS is every 12-24 months. It's all a little overwhelming.
Wednesday, June 16, 2010
Hello,
I so don't want to be here.
My son has Creatine Transporter Deficiency. This, in and of itself, isn't a terrible thing. He's a lovely boy, a happy boy, a beautiful boy, a funny boy and someone I would do absolutely anything for.
He was diagnosed with this metabolic disease at 19 months of age but we knew long before any diagnosis that he was not typical. He has a twin sister who is typically developing and it was pretty much impossible not to compare their development and to not notice when key milestones went amiss.
We feel alone in his diagnosis as no one can tell us what his prognosis will be. I've encountered 2 other families with Creatine Transporter Deficiency and have read numerous scientific papers on the subject - none of which seem to be in my son's favour. I'm not in denial about his condition, I just want what is best for my child. Wouldn't any parent want that?
My goal in creating this blog is to connect with other families dealing with a diagnosis of creatine deficiency (GAMT, AGAT and Creatine Transporter Deficiency) and to provide some support to the newly diagnosed who, such as myself, hope to come to a better understanding of what this Creatine Transporter Deficiency business is all about. If you come across anything good, do let me know.
Life is hard enough for the average person and to begin your life with additional challenges makes for a tough road ahead. I am by no means a glass-half-empty kind of girl yet I protect myself by remaining cautiously optimistic of what the future holds. I want to arm myself with as much knowledge as possible to be the best advocate for my son and family.
I know I've already won the lottery just by having the twins here and in the present. Make no mistake in that, I am fortunate and appreciate them each and every day. I just wish I didn't also win the other lottery, you know, the supposedly rare SLC6A8 gene mutation kind of which there are a few hundred diagnosed cases worldwide? Because, really, I had better odds of winning millions with a scratch ticket. Just saying.
My son has Creatine Transporter Deficiency. This, in and of itself, isn't a terrible thing. He's a lovely boy, a happy boy, a beautiful boy, a funny boy and someone I would do absolutely anything for.
He was diagnosed with this metabolic disease at 19 months of age but we knew long before any diagnosis that he was not typical. He has a twin sister who is typically developing and it was pretty much impossible not to compare their development and to not notice when key milestones went amiss.
We feel alone in his diagnosis as no one can tell us what his prognosis will be. I've encountered 2 other families with Creatine Transporter Deficiency and have read numerous scientific papers on the subject - none of which seem to be in my son's favour. I'm not in denial about his condition, I just want what is best for my child. Wouldn't any parent want that?
My goal in creating this blog is to connect with other families dealing with a diagnosis of creatine deficiency (GAMT, AGAT and Creatine Transporter Deficiency) and to provide some support to the newly diagnosed who, such as myself, hope to come to a better understanding of what this Creatine Transporter Deficiency business is all about. If you come across anything good, do let me know.
Life is hard enough for the average person and to begin your life with additional challenges makes for a tough road ahead. I am by no means a glass-half-empty kind of girl yet I protect myself by remaining cautiously optimistic of what the future holds. I want to arm myself with as much knowledge as possible to be the best advocate for my son and family.
I know I've already won the lottery just by having the twins here and in the present. Make no mistake in that, I am fortunate and appreciate them each and every day. I just wish I didn't also win the other lottery, you know, the supposedly rare SLC6A8 gene mutation kind of which there are a few hundred diagnosed cases worldwide? Because, really, I had better odds of winning millions with a scratch ticket. Just saying.