In a bustling maternity ward, an infant has a case of newborn hiccups. But this quickly transforms into labored breathing. A chest X-ray unravels an unexpected discovery – calcium deposits around her shoulder. Follow-up tests paint a complex picture, revealing narrowed blood vessels and widespread calcifications. Genetic testing confirms a grim diagnosis: generalized arterial calcification of infancy, or GACI, a rare genetic condition with a challenging prognosis. Nearly half of infants don't survive beyond six months. But as Dr. David Weber, a pediatric endocrinologist and the Medical Director for the Center for Bone Health at the Children's Hospital of Philadelphia, shares, a revolutionary clinical trial could potentially transform this child's life and the lives of others with this disease.
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
Overcoming the Odds of Prenatal Hypophosphatasia
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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