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Keeping up with Amanda: Life after brain surgery
In most ways, Amanda LePage is just like any other rambunctious fourth grader. She loves school, dance class, playing basketball and keeping up with her twin sister Macy and older brother Nathan. Sometimes it just takes her a little longer to do these everyday things. That’s because Amanda has been through a lot in her short nine years. Amanda was just 5 months old when she was brought by helicopter to Boston Children’s Hospital for a hemorrhage in her brain from an intracranial aneurysm, a type of vascular malformation. Despite long odds, Amanda survived two life-saving brain surgeries and a massive stroke that left ...
Source: Thrive, Children's Hospital Boston - May 22, 2017 Category: Pediatrics Authors: Ellen Greenlaw Tags: Our Patients’ Stories brain aneurysm Dr. Caroline Robson Dr. Craig McClain Dr. Edward Smith Dr. Peter Manley Hydrocephalus low-grade glioma pediatric stroke Source Type: news

Precision medicine is coming, but not anytime soon
President Obama’s announcement of a Precision Medicine Initiative was one of the few items in this year’s State of the Union address to garner bipartisan support. And for good reason. Precision medicine, also known as personalized medicine, offers the promise of health care — from prevention to diagnosis to treatment — based on your unique DNA profile. Who wouldn’t want that? We’ve already had a taste of precision medicine. Relatively low-tech therapies like eyeglasses, orthotic devices, allergy treatments, and blood transfusions have long been personalized for the individual. Genetic analysis o...
Source: New Harvard Health Information - March 26, 2015 Category: Consumer Health News Authors: Beverly Merz Tags: Health care personalized health care precision medicine Source Type: news

What is Ondine ’ s Curse?
Discussion Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant with variable inheritance genetic disease caused by mutation in the Paired Like Homeobox B2 (PHOX2B) gene on chromosome 4. There are two other genes which may also cause CCHS. CCHS affects the chemoreceptor afferent ventilation pathways and is a neural crest migration problem of the autonomic nervous system. The incidence is unknown but a prevalence of 1 in 200,000 live births has been reported. Obviously it is a rarer phenomenon because of the general lethality of the syndrome. Patients usually present at birth or soon afterwards, but o...
Source: PediatricEducation.org - August 15, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news