Comments on: News for Creatine Deficiency Syndromes http://www.josephfclark.com/blog/?p=1171 Sun, 26 Aug 2012 17:47:24 -0400 hourly 1 http://wordpress.org/?v=3.0.1 By: Joseph http://www.josephfclark.com/blog/?p=1171&cpage=1#comment-1707 Joseph Mon, 05 Mar 2012 02:50:19 +0000 http://www.josephfclark.com/blog/?p=1171#comment-1707 Dear Abhijit Kumar, I apologize for taking so long to get to your question. Please feel free to go to the CCHMC.org web site and make a request through http://www.cincinnatichildrens.org/research/divisions/h/genetics/default/. You can also email me directly at joseph.clark@uc.edu and I'll forward your request. We have a whole creatine research and clinical team in Cincinnati and we can help get you answers concerning your child. Please also consider joining the facebook group https://www.facebook.com/groups/127389967322193/?notif_t=group_r2j#!/groups/127389967322193/. On that group I will make sure that the group knows all the latest news and research concerning the creatine transporter deficiency. You can also talk to other parents and care givers bout their children. Best wishes Joe Joseph F. Clark, Ph.D. Professor of Neurology University of Cincinnati Cincinnati OH 45267-0536 513 558 7085 - office 513 558 7009 - fax joseph.clark@uc.edu Dear Abhijit Kumar,
I apologize for taking so long to get to your question. Please feel free to go to the CCHMC.org web site and make a request through http://www.cincinnatichildrens.org/research/divisions/h/genetics/default/. You can also email me directly at joseph.clark@uc.edu and I’ll forward your request. We have a whole creatine research and clinical team in Cincinnati and we can help get you answers concerning your child. Please also consider joining the facebook group https://www.facebook.com/groups/127389967322193/?notif_t=group_r2j#!/groups/127389967322193/. On that group I will make sure that the group knows all the latest news and research concerning the creatine transporter deficiency. You can also talk to other parents and care givers bout their children.
Best wishes

Joe

Joseph F. Clark, Ph.D.
Professor of Neurology
University of Cincinnati
Cincinnati OH 45267-0536
513 558 7085 – office
513 558 7009 – fax
joseph.clark@uc.edu

]]> By: Abhijit Kumar http://www.josephfclark.com/blog/?p=1171&cpage=1#comment-1644 Abhijit Kumar Fri, 10 Feb 2012 19:27:00 +0000 http://www.josephfclark.com/blog/?p=1171#comment-1644 Dear Dr. Clark, I am suspecting Creatine Deficiency in our son who is 3 year and 9 months old. He was diagnosed Autistic at 20 month old, because of his complete lack of speech both receptive and expressive. He has very evident Mental Retardation as well. He has ataxia, constant drooling and he cannot walk properly without falling down or run. He also has very evident pyramidal movements. At first we thought it was just his autism, but I only connected the dots now. He consistently has low creatinine in his CMP profile all the time. So, it is not possible that every time he is not well hydrated all the time that he goes in for a CBC with CMP. We noticed that something was not right with him at 15 month old. He has low muscle tone and still very baby like as compared to children his age. Could you please tell me what I need to do to get him tested at Cincinnati Children’s? Do we need to go to a Metabolic Doctor here in Chicago or a neurologist to get him the test requisition or is it possible to go directly to Cincinnati Children’s and get a doctor to see him there and do the testing at the same time.?Please help me, help my child. My son is losing time. Please feel free to call me or email me any time. Thanks Abhijit Kumar Ph:312-498-3750 Dear Dr. Clark,
I am suspecting Creatine Deficiency in our son who is 3 year and 9 months old. He was diagnosed Autistic at 20 month old, because of his complete lack of speech both receptive and expressive. He has very evident Mental Retardation as well. He has ataxia, constant drooling and he cannot walk properly without falling down or run. He also has very evident pyramidal movements. At first we thought it was just his autism, but I only connected the dots now. He consistently has low creatinine in his CMP profile all the time. So, it is not possible that every time he is not well hydrated all the time that he goes in for a CBC with CMP.
We noticed that something was not right with him at 15 month old. He has low muscle tone and still very baby like as compared to children his age.
Could you please tell me what I need to do to get him tested at Cincinnati Children’s? Do we need to go to a Metabolic Doctor here in Chicago or a neurologist to get him the test requisition or is it possible to go directly to Cincinnati Children’s and get a doctor to see him there and do the testing at the same time.?Please help me, help my child. My son is losing time.

Please feel free to call me or email me any time.
Thanks
Abhijit Kumar
Ph:312-498-3750

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