In an examination room, an ultrasound technician moves a wand over a patient’s belly. The patient is 20 weeks pregnant. Usually, these appointments bring good news, but the news this day is devastating: the baby’s bones are broken and bowed. Despite this, the baby is born and does well. After testing, all signs point to hypophosphatasia for Dr. Eric Rush, a clinical geneticist at Children’s Mercy Hospital and the University of Kansas Medical Center, and an Associate Professor of Pediatrics at the University of Missouri-Kansas City, who shares this patient’s story. And thanks to the life-changing treatment of enzyme replacement therapy, today, this child and many others with this rare bone disease are living happy, healthy lives.
Giving New Life Through X-linked Hypophosphatemia Research
The Bumpy Road to Hypoparathyroidism Diagnosis and Treatment
Unexpected Therapies for Fibrodysplasia Ossificans Progressiva Offer New Hope
The Power and Potential of GACI Clinical Trials
Biosimilars and the Quiet Revolution in Medicine
How One Child Overcame Hemophilia Complications Despite Incredible Barriers
Unraveling How a Hemophilia Diagnosis Went Undetected for 60 Years
To Play or Not to Play, the Challenges of Managing Pediatric Hemophilia
The History of Hemophilia and Its Evolution Toward Preventive Care
Undoing the Long-Held Misunderstandings of Hemophilia in Women
The Ups and Downs of Hemophilia Treatment
Go Inside the Minds of Doctors Who Specialize in Hemophilia
When the Doctor is the Bully
Critical Learning on the Job
Trusting Your Gut
When Generic Symptoms Turn Serious
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