In 2012 we were able to announce that the first gene responsible for AHC (ATP1A3) had been found and confirmed! This is exciting news because over 70% of those suffering with AHC have this mutation. The paper describing this finding can be found here:
http://www.newswise.com/articles/gene-mutations-identified-as-cause-of-most-cases-of-rare-disorder-ahcIf you would like to know if your child has the ATP1A3 gene please contact firstname.lastname@example.org and we’ll arrange for your family to be tested. Tara Newcomb, who is a Licensed Certified Genetic Counselor and the Clinical Research Coordinator at the University of Utah, will check if your child’s DNA is already stored in the AHCF Biobank. It is possible your families’ DNA was previously collected and you are already part of the AHCF Clinical Research Registry. If not, she will explain the registry and have you fill out the required research and permission forms and then send a DNA kit or arrange with you to have your child’s blood drawn at their next Doctor visit.
Once the test is complete she will notify you of the results or you can have the genetics counsellor of your choice receive the results and discuss them with you. The testing and consultation are free.
AHC Clinical Registry
All individuals with Alternating Hemiplegia of Childhood (AHC) are invited to join the AHC Registry coordinated at the University of Utah. This involves a one-page questionnaire that may be completed securely either online or over the phone.
We are encouraging you to enroll in the AHC Registry so that we may quickly and efficiently contact you in the future with information about new treatments for AHC, or about studies for which you may be eligible. Additionally, this will provide us with an accurate “head count” of all people with AHC.
The primary benefit to you is that you will be contacted as soon as we launch any AHC research study in which you may be eligible to participate, or as soon as we find a new treatment for AHC. The secondary benefit is that you will know that you are accounted for in the AHC Registry, which is our way of counting how many people have AHC. Knowing how many people have the disease is an important piece of information for obtaining funding of studies on AHC. Completing the AHC Registry form takes about 10 minutes.