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. …
About one in every 10 babies is born with a birthmark. Most are harmless and don’t require treatment. Some, however, can be signs of a serious problem.
When Ryan McIntyre was born, a dark red birthmark covered his left eyelid and part of his forehead. Within days, Boston Children’s dermatologist and Vascular Anomalies Center member Marilyn Liang, MD, diagnosed the discoloration as a capillary malformation, a common type of birthmark sometimes called a “port wine stain” because of its purplish color.
Liang also suggested that the mark could be a sign of Sturge-Weber syndrome (SWS), a rare condition in which extra but abnormal blood vessels grow on the brain’s surface. The unusual blood flow can lead to seizures, developmental delays, glaucoma and weakness or paralysis on one side of the body. While the total number of people born with SWS is not known, estimates range from one in 40,000 to one in 400,000.
An MRI would be needed to confirm the diagnosis, but because Ryan was otherwise healthy and didn’t have any symptoms, his doctors said they could wait until he was six months old before having the scan. Ryan and his family—including his twin sister, Ava—went back to their home in the Boston suburbs. …