At our most recent genetics appointment, we were told about SAMe (S-adenosylmethionine) and it was suggested that we consider having my son take it in addition to his arginine/creatine/glycine cocktail. I don't know a whole lot about it other than it can be used for depression, liver disease and osteoarthritis. Some research suggests that it can have therapeutic potential in treating patients with Alzheimer's. I believe it crosses the blood brain barrier but don't quote me on that.
I'm not sure how this all fits in with Creatine Transporter Deficiency, my limited scientific knowledge certainly doesn't help me wrap my head around it all. I'll find out more at our next appointment this winter and will keep you posted.
In the meantime, check out what awesome things are coming out of the University of Cincinnati. Does SAMe = CincY?
As 2011 draws to a close, I find myself with a renewed sense of optimism and hope for 2012. The last 2 years have been difficult, but not terrible. I'm looking forward to what 2012 will bring.
Showing posts with label creatine transporter deficiency. Show all posts
Showing posts with label creatine transporter deficiency. Show all posts
Thursday, December 29, 2011
Friday, September 16, 2011
Supplement update
A while back my son had a supplement strike and refused to take his creatine, glycine (liquid compound) and l-arginine (liquid compound). We tried mixing it with everything and anything but he flat out refused them. I wound up mixing them with sugar and squirting them in his mouth but you can imagine how well that turned out. A real battle of the wills!
So now we're back to the powdered versions and it's made a world of difference. They still taste terrible (to me) but when mixed with applesauce or yogurt, they go down easy. I have concerns about mixing them with dairy (something seems not right about mixing them with other amino acids) but I've been assured numerous times by his doctors that it does not matter.
The little guy's now THREE and tipping the scales at a whopping 28.5 lbs, here's his daily dose roundup:
Creatine 1.3g x 4/day
Glycine .65g x 3/day
L-arginine 1.75g x 3/day
Is low weight common amongst kids with Creatine Transporter Deficiency? I give him full-fat everything (mostly healthy fats) and as much food as he can eat, though he is a light eater.
That's all for now, not much to report. Preschool is back in session and we'll still figuring out our new groove. :)
So now we're back to the powdered versions and it's made a world of difference. They still taste terrible (to me) but when mixed with applesauce or yogurt, they go down easy. I have concerns about mixing them with dairy (something seems not right about mixing them with other amino acids) but I've been assured numerous times by his doctors that it does not matter.
The little guy's now THREE and tipping the scales at a whopping 28.5 lbs, here's his daily dose roundup:
Creatine 1.3g x 4/day
Glycine .65g x 3/day
L-arginine 1.75g x 3/day
Is low weight common amongst kids with Creatine Transporter Deficiency? I give him full-fat everything (mostly healthy fats) and as much food as he can eat, though he is a light eater.
That's all for now, not much to report. Preschool is back in session and we'll still figuring out our new groove. :)
Tuesday, August 23, 2011
Articles of Interest + Mito + Misc update
We've been busy having a super fun summer which hasn't left much time to post here. I want to remind you that I keep a list of current research articles on the right-hand side of this blog. You should check them out if you're looking for more info on where the science is at with creatine deficiency syndromes. Also the UMDF (United Mitochondrial Disease Foundation) will soon have a page dedicated to creatine deficiencies, specifically creatine transporter deficiency as it presents as a mito disease. Click here to find out more about Mitochondrial diseases.
My son has a couple new words but seems to get stuck on the new ones, sort of like how a song gets stuck on a scratched record. The latest is "all done" (sounds like "ah doon") and I was so excited by this that I clapped and cheered everytime he said it. If he knew what he meant, I doubt he does now. My enthusiasm led him to say this for everything: finishing his food, wanting to move on to another activity, wanting out of the wagon, wanting to be picked up, wanting to be put down, wanting a drink, wanting more food, not wanting his dog near him, wanting to wear a hat, etc..
So now we're stepping away from the verbal and focusing more on the sustaining joint attention and using gestures. I'd like for him to have a good foundation of non-verbal communication before we move on to the verbal. I don't really see the latter happening without it.
My son has a couple new words but seems to get stuck on the new ones, sort of like how a song gets stuck on a scratched record. The latest is "all done" (sounds like "ah doon") and I was so excited by this that I clapped and cheered everytime he said it. If he knew what he meant, I doubt he does now. My enthusiasm led him to say this for everything: finishing his food, wanting to move on to another activity, wanting out of the wagon, wanting to be picked up, wanting to be put down, wanting a drink, wanting more food, not wanting his dog near him, wanting to wear a hat, etc..
So now we're stepping away from the verbal and focusing more on the sustaining joint attention and using gestures. I'd like for him to have a good foundation of non-verbal communication before we move on to the verbal. I don't really see the latter happening without it.
Monday, June 13, 2011
Weaning..
A few months ago, in consultation with my son's neurologist and developmental pediatrician, we began weaning him off his anti-seizure medication (phenobarbital). For obvious reasons we were very nervous at the prospect of another seizure (tonic-clonic is his signature seizure). My mind often wanders to a slow motion replay of him convulsing, foaming at the mouth, turning blue and stopping breathing. My heart goes silent and it feels like I am witnessing him die, over and over again. Memory can be a terrible thing at times.
So why are we weaning him? Well despite trepidation we're anxious to see how being off the medication affects his development and behaviour (if at all). His last overnight EEG was crystal clear (though perhaps the phenobarb had something to do with that) which is comforting. Either way, we're now at the halfway point, down to 22.5mg/day, and so far there have been no ill effects. We're weaning very slowly, going down 7.5mg per month.
Of course whenever he's sick (like the horrific stomach flu/strep throat combo we all had last month), hungry or overtired, I'm on high alert for seizure activity. Much to my surprise and delight, he has had none. I suspect the true test will be when we enter flu and cold season this fall as he'll be fully weaned by then.
I wonder, do all kids with Creatine Transporter Deficiency have seizures? Is this just a little kid thing that he'll grow out of? Does the creatine/arginine/glycine treatment do anything to control the seizures? I don't know.
So why are we weaning him? Well despite trepidation we're anxious to see how being off the medication affects his development and behaviour (if at all). His last overnight EEG was crystal clear (though perhaps the phenobarb had something to do with that) which is comforting. Either way, we're now at the halfway point, down to 22.5mg/day, and so far there have been no ill effects. We're weaning very slowly, going down 7.5mg per month.
Of course whenever he's sick (like the horrific stomach flu/strep throat combo we all had last month), hungry or overtired, I'm on high alert for seizure activity. Much to my surprise and delight, he has had none. I suspect the true test will be when we enter flu and cold season this fall as he'll be fully weaned by then.
I wonder, do all kids with Creatine Transporter Deficiency have seizures? Is this just a little kid thing that he'll grow out of? Does the creatine/arginine/glycine treatment do anything to control the seizures? I don't know.
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.
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!
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.
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.
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.