A Professional Career, A Personal Mission
By Jeff Schaffnit, Head of U.S. Rare Blood Disorder Franchise
When our son Carter was 7 months old, our lives changed forever when he was diagnosed with severe hemophilia A. Hemophilia is a rare, genetic bleeding disorder in which the blood does not clot properly. It’s caused by missing or defective clotting factor - proteins in the blood that control bleeding.
Hemophilia A is the most common type of hemophilia, and it means that Carter, and other patients with hemophilia A, do not have enough clotting factor VIII. Patients with hemophilia B are missing or have defective factor IX.
Hemophilia can lead to spontaneous bleeding in the joints and muscles that can result in debilitating joint disease. It’s is a life-long condition for which there is currently no cure.
As parents of a newly diagnosed child, my wife Denise and I had so many questions. What would his life be like? Would he be able to do all the things we had dreamed for him? That led us to attend our first National Hemophilia Foundation conference. We connected and learned from so many amazing parents and caregivers who, like us, were navigating the world of having a child with a bleeding disorder.
We also saw firsthand the devastating impact that the lack of prophylaxis treatment – the regular use of clotting factor concentrates to prevent bleeds before they start – has on the joints and the quality of life for hemophilia patients.
We pledged to do everything possible to make Carter’s life as normal as possible. We started him on prophylaxis treatment when he was 18 months old. At the age of 12, he learned how to self-infuse and he has never missed an infusion. He has stayed active and played sports from a very young age. He’s now a 19-year-old college student studying biomedical engineering at Vanderbilt University, with the ambition to work on hemophilia gene therapy one day.
Carter is my inspiration and he is the reason I am involved with the hemophilia community – both personally and professionally as the U.S. Team Lead for Sanofi Genzyme’s Rare Blood Disorder Franchise. The hemophilia community is amazing – comprised of passionate people who motivate me every day by what they bring to hemophilia patients in terms of support and education. And here at Sanofi Genzyme, we are honored to play a role in supporting this community.
This month, for example, we launched “June for Joint Health,” a new partnership with the National Hemophilia Foundation that is focused on encouraging patients with hemophilia and their families to develop life-long habits that promote safe, joint-building physical activity.
Research has shown that conditioning, stretching, exercising and the right treatment regimen can help improve joint health, reduce joint bleeds and resolve target joints. “June for Joint Health” is a significant collaboration that we hope will call attention to the importance of caring for joints, provide tips and help improve joint health in the hemophilia community.
I’m proud of this effort and our steadfast commitment to the bleeding disorder community.