Dear Dr. Kim

Dr. Kim Blake, paediatrician and board member of CHARGE Syndrome Canada is one of the leading researchers in CHARGE syndrome, and has been working with children who have CHARGE syndrome for about twenty years.  She will answer one question per newsletter.  Please submit your questions to CHARGE Syndrome Canada                                                                                                         

Question:  I have a thirteen year old child with CHARGE and have been hearing about concerns with oesteoperosis. (help another problem!)  What should I do? 

Answer:  We have been conducting a study on adolescense and adults with CHARGE looking at general bone health and factors that may be present to cause oesteoperosis. From the study we have found that the majority of the CHARGE population are not recieving the reccomended daily requirements of Calcium, (which is 1500 mg /day) and Vitamin D (which is 400 mg/ day).  Weight bearing is also limited, especially in the adults when they are not having 1:1 help. The biggest concern must be the hormone replacement therapy (HRT) which certainly needs to be addressed.  All individuals with CHARGE need adequate pubertal hormones to protect their bones.  This will be estrogen in females and testosterone in males. I know there has been much discussion of the side effects of testosterone, aggressiveness for one, however the dose that would be given would be the replacement dose which is physiologically normal...I think debate will still happen over this.  Our endocrinologist starts at a low dose and moves up slowly.

Dr. Kim Blake, Associate Professor of Peadiatrics, Dalhousie University