Blog

How genetic testing helped Wilson help other infants with epilepsy

Posted on by | Patient Stories, Research
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In August 2021, after months of anticipating their son’s arrival, Emily and Nick felt as ready as they’d ever be to become parents. Happy and excited to finally have Wilson in their arms, they brought him home a few days after delivery. Just over 24 hours later, though, they found themselves back in a hospital ... Read More
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Finding a treatment option for tear duct obstruction that works for children

Posted on by | Clinical, Research
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Congenital tear duct obstruction (a blocked tear duct) is the most common cause of excessive tearing in infants and young children. Fortunately, most children require minimal treatment, but those with persistent symptoms can have a procedure to clear the blockage either in a clinician’s office without anesthesia or in a surgical setting with anesthesia.  Few ... Read More
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How one diagnosis brought together three best friends: Allyson, Maddy, and Caiya’s journey with pancreatitis

Posted on by | Patient Stories
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Allyson, Maddy, and Caiya are your typical tween best friends — sharing inside jokes and constantly chatting about everything and anything. “They’re always on FaceTime talking and laughing,” shares Kim, Maddy’s mom. “They just love each other.” You’d never guess that these three girls didn’t meet at recess, but rather through Dr. Amit Grover, director ... Read More
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Chloe navigates Marfan syndrome with a positive attitude — and a responsive care team

Posted on by | Patient Stories
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Chloe Burian has always defied expectations. Despite surgeries and other treatments for several conditions that stem from the genetic disorder Marfan syndrome, the 12-year-old remains upbeat. “Nothing bothers her,” says Chloe’s mom, Audrey. “She goes through life with a smile.” Still, there were moments of doubt along the way, especially when Audrey and her husband, Rudy, ... Read More
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Homecoming: Jack’s complex care brings a family back to Massachusetts

Posted on by | Patient Stories
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Georgia and her husband, Keith, moved to North Carolina from Massachusetts in 2015 with a dream of building a house and starting a family. Their plans changed, however, when their son Jack was born in 2017 with severe health complications, including a rare and severe form of childhood epilepsy called Lennox-Gastaut syndrome and a rare ... Read More
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Gold particles and light could melt venous malformations away

Posted on by | Research
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Venous malformations — tissues made up largely of abnormally shaped veins — are often difficult to treat, especially when located in sensitive areas like the eyes, face, and genitourinary organs. In the worst cases, the lesions are disfiguring and can crush or obstruct surrounding tissues, cause bleeding and clotting, interfere with breathing or vision, or ... Read More
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Broken signals: Things you may not know about nerve injury

Posted on by | Clinical Care, Specialty Care
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When Dr. Andrea Bauer talks about nerve injuries, she talks about phone cords. A damaged phone cord transmits staticky or broken sounds, or no sound at all. Similarly, peripheral nerve injuries (injuries that affect the arms, hands, legs, and feet) disrupt signals to and from the brain, causing numbness, loss of sensation, and lost function. ... Read More
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Getting a little help from a game show host: How Steve Harvey became Panos’ personal tooth fairy

Posted on by | Patient Stories
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11-year-old Panos loves to smile and sing — but getting him to show his teeth to a dentist hasn’t always been easy. When he visited a dentist near his home for his first cleaning, the experience was a tough one. “He was overwhelmed by the new environment and refused to open his mouth,” explains his ... Read More
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A new approach to C. diff? Targeting the inflammation, not the bacteria

Posted on by | Basic/Translational, Research
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Clostridium difficile (C. diff) intestinal infections can cause severe, debilitating diarrhea in patients who are hospitalized or on immunosuppressive therapies. The infections can be very hard to eradicate, roaring back when patients try to taper their antibiotics. Many people wind up on antibiotics for months and can become resistant to three or more of them. ... Read More
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Keeping pace: ‘Superhero’ Zachary hasn’t let a brain tumor break his stride

Posted on by | Patient Stories
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Zachary Sonnek, 11, loves being active, whether that means running or playing baseball, golf, or hockey. “He’s always been ‘go, go, go,’” says his mother, Nicole. So two years ago, when he told his parents he occasionally had trouble breathing, they initially thought he just needed to pace himself. Although he had a clean bill ... Read More
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