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Treatment for the vision condition achromatopsia helps Aiden embrace the outdoors

Posted on by | Patient Stories
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A lot of things excite 10-year-old Aiden Flaherty: drums, soccer, skiing, video games. But lately, he’s also found joy in a quieter, less active pursuit: watching leaves move on trees. He loves being outdoors during the daytime and taking in all that nature offers. It’s something he only recently could do after receiving retinal gene ... Read More
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A state policy made it harder for families to find shelter. Research helped change the policy.

Posted on by | Research
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Physicians and policy makers usually work in separate worlds: those of medicine and government. But when a change in Massachusetts policy led to an unprecedented increase in the number of homeless families seeking shelter in the emergency department (ED), physicians at Boston Children’s Hospital set out to reverse that policy. What happened next shows that ... Read More
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Blood donations help Kit manage Diamond-Blackfan anemia — so she can dance, sing, and enjoy life

Posted on by | Patient Stories
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Every month, Kit Murdoch needs a blood transfusion to stay alive.  The 2-year-old has Diamond-Blackfan anemia, a rare genetic blood disorder that, if untreated, prevents blood from delivering oxygen through the body. While it has been a devastating diagnosis for Kit’s parents, they’re grateful for the specialized care she receives and are constantly amazed that people ... Read More
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Sickle cell gene therapy and boosting fetal hemoglobin: A 75-year history

Posted on by | Clinical Care, Research
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Ed. Note: This post updates an earlier post from 2018. In a landmark decision today, the Food and Drug Administration (FDA) approved two gene therapies for sickle cell disease. One of them, Casgevy, has deep scientific roots at Boston Children’s Hospital — and is also the first therapy using CRISPR gene editing to gain FDA ... Read More
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An off-the-shelf tamponade kit provides surgeons with ‘the luxury of time’ during a life-threatening emergency

Posted on by | Clinical Care
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It was a late Friday afternoon in April when the call came: A young boy was being transferred to Boston Children’s emergency department after swallowing a button battery. Although his mother had previously taken him to another local hospital when she noticed he wasn’t eating or drinking much, the battery ingestion had been missed until ... Read More
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Writing the book on infantile spasms: Charlotte’s story

Posted on by | Patient Stories
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When Charlotte, 3, developed infantile spasms last year, her parents, Kate and Brett, entered a world they didn’t know how to navigate. Inspired by their daughter and the care she received at the Epilepsy Center at Boston Children’s Hospital, they set out to help other families facing similar experiences. Nervous parent instincts prove right “I ... Read More
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Could ADHD be diagnosed genetically?

Posted on by | Clinical, Research
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Despite it being very common, ADHD is often missed until a child reaches age 7 or older. By that time, they have likely been struggling socially and in school. Could early genetic testing be part of the solution? Anne Arnett, PhD, in partnership with Ryan Doan, PhD, at Boston Children’s Hospital, set out to see ... Read More
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How hearing aids opened up a world of sound for Harry

Posted on by | Patient Stories
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Maybe it’s unusual to bring a musical instrument to an audiology appointment, but that didn’t stop Harry King. When he picked up his new hearing aids from Boston Children’s Hospital, he brought his ukulele. After a procedure to drain fluid from his middle ears the year before, Harry had become obsessed with sounds of all ... Read More
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All in the family: One family’s shared link to epilepsy and fight for answers

Posted on by | Patient Stories
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One of the wonders of parenthood is seeing the traits you pass along to your kids, like your eyes or your laugh. For the Anderson family, however, one shared trait is more complex: a mutation in the NPRL3 gene that leads to epilepsy. It took four generations to uncover the family’s genetic link to the ... Read More
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