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.
*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.