CBI Scene Blog

CBI Highlights Rare Disease Day with CureCMT4J

Posted by Lisa Tandy on Feb 28, 2018 9:30:00 AM

In the harsh, overhead light of the ER the ICU doc turned his attention away from my daughter to direct his gaze upon me. Two other doctors flanked him on each side. I felt overmatched. I hadn’t slept for two nights and it was probably now around 3AM of the third night. I looked back at my 12 year-old daughter, Talia, lying semi-reclined, her little body engulfed by the giant hospital bed. A clear, plastic mask covered nearly all of her face, save for her blue-green eyes and honey-colored hair. She was asleep. Finally. Her cheeks pink, her breathing less labored. An aura of purple light surrounded her.  

The flu was raging through her body, making it difficult to breathe or even hold her head up. Already weakened by a rare neuromuscular disease known as CMT4J, the doctors were concerned Talia may need intubation—a tube placed into her windpipe to take over for her breathing. At the very least, she would need time on a bipap machine to help both push air into her lungs and pull it back out again. CMT4J had even stolen her muscles used for breathing.

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Topics: Patient Access, Rare Disease & Orphan Drugs, Rare Disease Day, expanded access, Patient Advocacy

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