As I hope many of you know I am dedicated to the study, diagnosis and treatment of the creatine transporter deficiency disorders called: GAMT, AGAT and CTD. I have blogged on these subjects several times before and have an announcement. Here in Cincinnati we (University of Cincinnati and Cincinnati Children’s Hospital Medical Center*) are launching the first of its kind diagnostic for all three diseases. Previously patients often had to have multiple doctor’s visits and can take many months to get a diagnosis. Now, gone are the hassles of sending samples to three different labs, that were collected in different ways at different times. One visit, one collection method and one lab can do the genetic diagnosis. The launch of this new service is August 1 2011. More info about this service can be found here: www.cincinnatichildrens.org/molecular-genetics.
This one stop shop concept for the diagnosis of the creatine deficiency syndromes will save time and angst for the doctor, patient and caregiver and is especially important as these diseases, when treatable, require early treatment to achieve optimal benefits. There are many anecdotal stories of families who have identified a deficit with their child at an early age but take years for a diagnosis. The late diagnosis often leads delay in treatment and can result in prolonged deficits in the patients. Time is brain for many of these patients and our new system will save time.
We are happy about the launch of our new diagnostic technology. Please spread the word to patients, doctors and advocates so that we can diagnose these patients early and effectively. Check out our facebook group https://www.facebook.com/#!/groups/127389967322193?ap=1 for future updates and more discussions on the creatine deficiency syndromes. Watch this space as well to see what we will be rolling out as we continue to work to help caregivers and patients with creatine deficiency syndromes.
Questions about the test can be sent here: moleculargenetics@cchmc.org, Questions about creatine deficiency syndrome research in Cincinnati can be sent to Dr. Clark, joseph.clark@uc.edu.
*Please note, I am not a representative of the University of Cincinnati and/or Cincinnati Children’s Hospital Medical Center, but want to make everyone aware of what these outstanding institutions are doing.
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
February 10, 2012 @ 7:27 pm
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
March 5, 2012 @ 2:50 am