At the end of my pregnancy, my daughter Elizabeth was breeched so my doctor planned a Caesarian section. Results from an ultrasound determined that she had 10 months to live. Through her first day in the hospital, the doctor told us that both of Elizabeth’s legs, her arms, her collarbones and her ribs were broken in several places. They didn’t think she was going to survive the night. I was just devastated when they explained that she had osteogenesis imperfecta. Children with OI usually grow no taller than three and a half feet and have severe bone deformities. Most spend their lives in wheelchairs and even the slightest jolt or bump can cause their bones to fracture, causing incredible pain.
We felt that Elizabeth was a gift and we weren’t going to give up that gift so easily. My husband said, “As long as she fights we’re fighting with her.” Doctors consistently communicated that there were no treatments, no cure and Elizabeth would live the rest of her life in pain.
When Elizabeth came home, Terry reached out to a doctor that he researched who was featured in an article about a series of bone marrow transplants. That doctor put us in touch with Dr. Edwin Horwitz who instantly felt that he could help Elizabeth at only three weeks old.
When Elizabeth was 10-years-old, Dr. Horwitz had Elizabeth approved to enter a stem cell study. Terry was the one fortunate enough to donate his bone marrow. The doctors took his cells, infused them into Elizabeth and they repeated that over 2.5 years. It was working. Instead of her body deteriorating, her bones were growing. Elizabeth grew 6 inches, if not more, since the treatment began. She’s gotten taller which is the opposite of what happens to a lot of kids with osteogenesis imperfecta. It was unbelievable that her bones grew, which is something he wasn’t even anticipating, so we were very grateful for this.
She received Dr. Horwitz’s treatment in the summer of 2010. It’s just been great, but our new challenge is funding her treatment. We have applied for a compassionate use exception to continue Elizabeth in the study. Just for a piece of the treatment, we have raised about $25,000 on our own and through the support of our community.
The hardest part as a parent is to know that treatment exists and that only funding is lacking. Dr. Horwitz just has to verify what kind of protein that the stem cells secrete, concentrate them and infuse them into the patients. We think the global impact that this could have on any kind of patient with skeletal or bone disorder is huge. We’ve come so far and she’s 14-years-old. To live that long and fall short is going to feel like a failure if there is no way for her to continue treatment.
Dr. Horwitz’s current clinical trial is the most advanced in his field, and the only cell therapy treatment for OI currently being tested in humans. Every child being treated under this experimental protocol has shown new bone growth—a stunning finding. Dr. Horwitz is now focused on sustaining that bone growth over time and isolating the proteins that stimulate this growth.