As understanding of rare disease advances at an ever-increasing rate, it’s critical to keep partnership and advocacy at the center of healthcare. “The pace of discovery has changed. Things are going faster than they ever have, new therapies are coming out – we are in an age of rapid advancement. It’s very exciting. But we still have to do the basics. We need to network with our families and build support networks.”
So says Marshall Summar, MD with the Children’s National Health System, who, alongside Brendon Lee, MD PhD at Baylor College of Medicine, spoke on the future of rare disease treatment at the National Organization for Rare Disorders (NORD) Living Rare, Living Stronger Patient and Family Forum.
“There is such a sense of isolation from many of my families who think there is no one else out there like them,” Dr. Summar told the delegates, adding that groups such as NORD give families the opportunity to learn from each other.
Gene therapy trials creating a buzz
There are currently hundreds of gene therapy clinical trials registered with the U.S. Food and Drug Administration (FDA), creating a buzz among the rare disease community.
But Dr. Lee believes it’s important to keep it in perspective. “At the start, we thought this was going to cure everything. The reality is it lands somewhere between the ultimate cure for everything and a complete failure,” he points out.
“Gene therapy is potentially curative for some diseases, but it’s never going to be the whole battle. There is never one single therapy.”
Much more work is needed to understand which treatment or combinations of treatments will work for each disease and each patient.
Partnership is key
That work, both clinicians agree, needs to be carried out in partnership between patients and the families, doctors, scientists and advocacy groups.
“In rare disease,” says Dr. Lee, “there is very little evidence and we do not know the answer to everything. We have to appreciate that we are all learning together.
“When you live with a rare disease, you live with the symptoms and signals that will inform your field on what to do next in terms of care and research.”
By providing education and connecting families to researchers, he adds, advocacy organizations, are central to this process.
“When I started, clinicians would never admit that they didn’t know something. I have seen an evolution towards partnership,” Dr. Summar reveals.
“Every patient is an individual and my families are each the world experts on their version of their disease. If I didn’t listen to them, I’d be stupid.”