Editor’s Note: Scott Schwantes, M.D., spoke on Tuesday, February 25 at Minnesota’s Rare Disease Day at the Capitol. He, alongside legislators and a Gillette patient, advocated for children and adults who have a rare disease. Below are his remarks. Thank you Dr. Schwantes for moving advocacy forward!
I have the honor of serving as Gillette Children’s Specialty Healthcare’s Associate Medical Director of Pediatrics. My clinical practice focuses on pediatric hospice and palliative medicine. In this work, I’ve had the opportunity to work with some truly incredible and amazing families and I’ve come to appreciate that the “rare” becomes commonplace.
As we have come to appreciate today, children who have rare diseases comprise a very real and special part of our communities.
- 30 million people in the US are living with rare diseases. Although the disease itself may be rare, nearly 10 percent of the population are living with a rare disease
- Nearly two-thirds of those affected by rare diseases are children
Whether the underlying condition has a name such as DeBarsy syndrome, Schinzel-Gideion syndrome, Infantile Neuroaxonal Dystrophy or some as-yet un-named genetic syndrome resulting in a life-threatening condition, the condition is far from “rare” for these families. Even though some rare disorders affect perhaps only 50 children nationwide, to their families, it is present every day.
My work focuses on partnering with families of children who have rare disease to develop a “philosophy of care.” This philosophy of care:
- Meets the child’s medical needs
- Strives to fulfill the entire family’s sense of well-being by respecting their goals and values
- Establishes a medical plan of care that ensures the individual child is the beneficiary of our interventions
Through this partnership, we work together to help children who have rare diseases thrive within their local communities. At Gillette we recognize that life doesn’t happen in the hospital or clinic, but at home and in the community.
So as we raise our voices in recognition of rare diseases, I want to express my gratitude to all of you. Thank you for allowing me the time to talk about the very special children and their families who can still thrive despite these rare diseases. Thank you for your continued support and advocacy so children who have rare diseases can have every opportunity to experience life in a way that’s guided by their family’s desires. Thank you for simply seeing the child and not the rare disease.