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..
Tuesday, June 29, 2010
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.