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 therapies. Show all posts
Showing posts with label therapies. Show all posts
Thursday, December 29, 2011
Tuesday, December 6, 2011
Treatable Intellectual Disabilites / Developmental Disabilities
I recently came across an amazing compilation of treatable metabolic disorders - 81 in total. Not only does the site highlight the various signs and symptoms of inborn errors of metabolism, it also lists the treatments (where applicable) as well as an explanation of each disease with links to thousands of research articles. It's a one-stop amazing shop designed for clinicians but also accessible to non-professionals like moi. It contains links to 1,296 online resources with access to 2,482 articles!
Check it out: www.treatable-id.org The site has good usability and navigation and contains heaps of info. My only complaint is that the text could do with some a scrub - lots of typos and grammar issues. Then again, these folks aren't in their fields for their writing skills.
Check it out: www.treatable-id.org The site has good usability and navigation and contains heaps of info. My only complaint is that the text could do with some a scrub - lots of typos and grammar issues. Then again, these folks aren't in their fields for their writing skills.
Wednesday, April 13, 2011
Supramalleolar Orthoses
Say that three times fast!
The little guy saw an orthotist today who fitted him for a fancy pair of custom SMOs. It took three of us to restrain him during the casting and there were casualties: the orthotist got kicked and had her hair pulled, the physio was bitten and I got pinched. I'd venture a guess and say that he wasn't too happy with the situation. Still, after three attempts, we had an acceptable cast and now we don't need to do this again for another year.
The SMO is a plastic moulding that goes around the foot and ankle and is worn as an insert in regular shoes. His SMOs should help his feet positioning and gait so all good stuff and certainly worth it.
I don't know if hypotonia and foot alignment issues are common to his Creatine Transporter Deficiency diagnosis. My son's first MRI did indicate damage to the brain that is commonly seen in those affected by cerebral palsy (his initial diagnosis)so perhaps that is where the link lies.
Either way, I'm happy to just keep on moving forward and help my son reach his full potential. I just need to ignore the grumbling complaints from my wallet.
The little guy saw an orthotist today who fitted him for a fancy pair of custom SMOs. It took three of us to restrain him during the casting and there were casualties: the orthotist got kicked and had her hair pulled, the physio was bitten and I got pinched. I'd venture a guess and say that he wasn't too happy with the situation. Still, after three attempts, we had an acceptable cast and now we don't need to do this again for another year.
The SMO is a plastic moulding that goes around the foot and ankle and is worn as an insert in regular shoes. His SMOs should help his feet positioning and gait so all good stuff and certainly worth it.
I don't know if hypotonia and foot alignment issues are common to his Creatine Transporter Deficiency diagnosis. My son's first MRI did indicate damage to the brain that is commonly seen in those affected by cerebral palsy (his initial diagnosis)so perhaps that is where the link lies.
Either way, I'm happy to just keep on moving forward and help my son reach his full potential. I just need to ignore the grumbling complaints from my wallet.
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 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.