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. …
Imagine your child is diagnosed with a rare neurological condition. So rare that there are only a handful of reported cases, and those are from halfway around the world.
This was the case for Chris and Kasey Edwards of Massachusetts and Kevin and Angela Duffy of Pennsylvania. Their daughters’, Robbie and Molly, are among only 11 children in the world to be diagnosed with an extremely rare genetic disorder, called spastic parapalegia-47 (SPG47).
“When they told us how rare this was, our minds were going in a thousand directions,” says Kasey, Robbie’s mom. “We didn’t know what to think.”
The two families thought they were all alone, until they found each other. And on a recent warm fall afternoon, these two adorable girls and their parents met in person for the first time at Boston Children’s Hospital, where they both receive care. …