Author: Ellen Greenlaw

Daughter’s neurosurgery inspires mom to give back

Kannon, who had hydrocephalus, is now a happy 5-year-old.Danielle Parkman isn’t a doctor or nurse. In fact, she’s not a clinician of any kind. And yet every day she makes the lives of patients in the Boston Children’s Hospital Division of Pulmonary and Respiratory Diseases a little bit easier.

As the Senior Administrative Associate for Pharmaceutical Benefits and Prior Authorization Specialist, Danielle is responsible for getting approvals for pharmacy benefits and prior authorizations for all pulmonology patients. It’s a daunting task, but she doesn’t take no for an answer.

“I love my job, and I love fighting for my patients,” says Danielle. “I know I’m making a difference. I can also empathize with many of the parents because I’ve been in their shoes.”

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

Kira Dies, a genetic counselor, won the Code Talker Award.

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.

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Danny’s journey to a biventricular heart

Danny, born with heterotaxy syndrome, peeks out from a tree.The first hint that something wasn’t quite right with Danny Sanchez-Garcia’s heart came at his mom’s six-month prenatal visit.

“There was a little blip on the ultrasound, but then it was gone on the next one, so they didn’t think it was anything and I didn’t worry any more about it,” says Danny’s mom, Cynthia.

Cynthia was overjoyed when Danny was born at her local hospital seeming perfectly healthy. But as the hospital staff monitored Danny overnight, they noticed his oxygen level was lower than normal and decided to run more tests. His doctors believed the tests pointed to a congenital heart defect called tetralogy of Fallot with pulmonary atresia.

“They transported him overnight to Boston Children’s Hospital,” says Cynthia. “I felt like I was on a roller coaster, especially as a first-time mom.”

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Courtney’s story: Piecing together a genetic puzzle

Courtney, who has Loeys-Dietz syndrome poses after her college graduation. Courtney Whitmore was born 22 years ago with a cleft palate, two clubbed feet and fists that were so tightly clenched they couldn’t be pulled apart. Since Courtney was an otherwise happy and healthy baby, neither her parents nor her doctor saw cause to be concerned about these seemingly unrelated conditions. What they didn’t realize was that these were the first clues to a genetic puzzle that would take ten years to unravel.

The next clue came at age 3.

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