"CHARGE Syndrome: Parents as Partners " workshop, Hospital for Sick Children, Toronto, October 15/16, 2004

CDBRA NB/PEI

Thanks to our partners: parents, educators, health care professionals, and other         organizations!

Meg Hefner,

associate professor medicine, clinical genetics, St. Louis University was our guest speaker.

• new diagnostic criteria for CHARGE Syndrome - do NOT use the letters in CHARGE, look at major and minor criteria with focus on cranial nerves/coloboma/choanal atresia/characteristic CHARGE ear, but they don't have to have all these either!  Look at minor critera as well, and find a genetics professional who is familiar with CHARGE syndrome
• "hot-off the press" genetic information - CHD7 gene implicated in studies for some cases of CHARGE
• THEY MAY NEVER KNOW what causes the change in the gene in the children, but the parents do not carry the gene change

Dr. Kim Blake, associate professor pediatrics, Dalhousie University, Halifax was also our very special guest!  She is here with young adult with CHARGE syndrome Krista Bach and mother Linda Bach.

                    For a link to recent research, see our CSC Newsletter - Dear Dr. Kim section. 

The study on oesteoperosis in CHARGE syndrome in young adults is ongoing. "All of the survey participants thus far found they do infact have oesteoperosis."  If you would like to participate in this study, contact kblake@dal.ca

FRIDAY NIGHT NETWORKING

Parents and professionals met to talk over issues and have fun!

The highlight of the workshop was the presentations from the young adults who have CHARGE syndrome.