This video of three year-old Corinna is remarkable because it would seem so unremarkable if you didn’t know Corinna’s story—she looks just like any other kid. I had the pleasure of meeting this very special attendee at Sanford-Burnham’s 2nd Annual Rare Disease Day Symposium last February. Corinna was born with hypophosphatasia (HPP), a rare inherited disease that affects bone development, leaving her fragile and unable to walk. Lauren, Corinna’s mother, had brought her along to the symposium and was excited to meet the scientists studying HPP and hear about the latest research.
The family traveled from Philadelphia to be there that day – no small task, considering Corinna’s special needs and lack of mobility. I first talked to Lauren on the phone, helping her with directions from her hotel to the Sanford-Burnham campus. Then I waited for them outside and helped her get the stroller out of the taxi. I set it up while Lauren got Corinna out of the car. Corinna was blond, adorable, friendly—and just about the same size as my own daughter. My heart went out to them. I know how trying it can be to travel with a toddler, even under the best of circumstances.
But the difficulties were worth it. Corinna was just about to begin a clinical trial to test ENB-0040, an enzyme replacement therapy that Sanford-Burnham’s Dr. José Luis Millán developed with ENOBIA Pharma and Dr. Michael P. Whyte of Shriner’s Hospital for Children in St. Louis. ENB-0040 is currently the only treatment option for HPP and both Dr. Millán and Dr. Whyte were speaking at the symposium.
As I led them into the auditorium, Lauren was quickly trying to update her Facebook status to share her experience with other HPP families. Later, I learned just what a big deal this trip was for them. Corinna was especially happy that they’d been able to visit the beach the day before. But as the symposium wore on, the little girl became understandably bored with scientific presentations. Hoping to make her afternoon more bearable, I ran out to my car and grabbed a few of my daughter’s books. Corinna’s face broke into a shy smile as I tiptoed down the aisle and handed them to her. I was so pleased that there was a least one small thing that I could do for her.
My encounter with Corinna was brief, but not forgotten. Fast forward to this week, when, to my surprise, Dr. Millán sent me this new video he had just received from Corinna’s mother. After just eight weeks on ENB-0040, Corinna is not only walking, she’s jumping! I can only imagine the joy her mother must feel.
This video provides clear evidence of how research is improving human lives.
For more on rare and childhood disease research at Sanford-Burnham, visit our rare disease info page or read more blog posts.