Description
During a 20-week ultrasound appointment, there’s devastating news: the baby’s bones are broken and bowed. Despite this, the baby is born and does well. After testing, all signs point to hypophosphatasia. 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.
After a lifetime of treating her rare bone disease, X-linked hypophosphatemia, a patient is at the end of her rope. She’s in pain, frustrated, and nothing seems to help. So when a clinical trial presents itself, her doctor isn’t sure she’ll want to participate. While the decision to participate...
Published 05/29/24
A 45-year-old is out for a drive. As she accelerates her stick-shift car, she starts to experience familiar, and scary, symptoms: facial tingling, numbness around her mouth, and her hands cramp and lock onto the steering wheel … Her story takes many wrong turns, but eventually she is diagnosed...
Published 05/22/24