I recently had the honor of representing Vencore at Pennsylvania’s Rare Disease Day at the State Capitol in Harrisburg. This event brought together members of the rare disease community from across Pennsylvania, with the highlight being the introduction of a new Rare Disease Caucus in the Pennsylvania state legislature at a press conference held in the Capitol Rotunda.
During the press conference we heard incredible stories from patients and advocates alike about how they have turned their personal experiences with rare disease into positive action. We met patients, advocates, parents, researchers and legislators working on the issues important to the rare disease community. We learned about the frustration felt by patients unable to find a diagnosis, and the bittersweet relief that comes with finally learning the cause of their suffering – only to find out it’s a rare, incurable condition.
We became involved in the rare disease community because we identified a business need in the pharmaceutical industry to find undiagnosed rare disease patients. We realized that the predictive analytics techniques we’ve been using in the defense industry for decades could be very effective in helping these companies meet that business need. We have found it impossible, however, to limit our involvement to a business opportunity. We have always been mission-driven in our defense industry heritage. Now we are applying that energy to the rare disease community.
It was thus as a supporter of the rare disease community that Katelyn Ciccozzi, data scientist at Vencore, and I participated in this event. Our goal was to listen to and learn from those who represent rare disease. We did not plan to talk in depth about the work Vencore does to find patients. However, whether speaking to an advocate, a patient, or a parent of a child with a rare disease, the response to our presence was consistent and unexpected. Instead of simply “thank you for supporting us” the response we overwhelmingly heard was “we really need to find patients; tell us more about what you do.”
Yes, there is a huge business need in the pharmaceutical industry to find rare disease patients, whether it’s to complete clinical trials or convert patients to a commercially available therapy. But there is just as strong a need among those personally impacted by rare disease to find patients, too. At Pennsylvania’s Rare Disease Day we learned that advocacy groups need to find patients to offer them a support network and provide strength in numbers in working toward treatments. We learned that patients need to find other patients to know they are not alone in living with rare disease. And we learned that parents of children with rare disease need to find patients to learn how to care for their kids – or even just offer hope that there is a diagnosis out there.
Participating in Pennsylvania’s Rare Disease Day reminded me of something I already knew: finding rare disease patients is not just a business problem. It’s a human problem.
Program Manager, Vencore