Code talker: A Q & A with genetic counselor Kira Dies

Your child has just been diagnosed with a rare genetic disorder. Your pediatrician has never heard of the condition and the internet doesn’t offer much information. Where do you turn? Kira Dies, a genetic counselor in the Department of Neurology at Boston Children’s Hospital, helps parents with these hard questions every day. One of about only 4,000 genetic counselors in the country, Dies has been trained in handling both the scientific and emotional sides of genetic disorders. Dies was also the recent winner of the Code Talker Award, presented by Genome Magazine and the National Society of Genetic Counselors (NSGC). Two other genetics counselors from Boston Children’s were also nominated, Casie Genetti and Beth Sheidley. Although Kira works in neurology, primarily with patients who are diagnosed with tuberous sclerosis complex (TSC), the nomination that won her the Code Talker award was from Kasey Edwards, mom of Robbie, who was diagnosed with a rare type of hereditary spastic paraplegia, SPG 47. At the time Robbie was diagnosed, only one other child in the United States was known to have the same diagnosis. We sat down with Kira to learn more about her role at Boston Children’s. What’s a genetic counselor’s role in diagnosis? First, we meet with the patient and family to get a detailed history and look for other symptoms. For example, if a child has autism, I look for other clues, such as other organ involvement or distinctive facial features that might point to...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Ask the Expert genetic counselor Kira Dies Mustafa Sahin Neurogenetics Program SPG47 tuberous sclerosis complex tuberous sclerosis program Source Type: news