This toolkit is a follow up resource based on the Global Genes Webinar Leveraging a Rare Disease Center of Excellence that was originally webcast June 1, 2015.
Our panelists included Kari Luther Rosbeck, President & CEO of the Tuberous Sclerosis Alliance; Mohamad Mikati, Chief of the Division of Pediatric Neurology at Duke University; Kelly Ranallo, Founder and President, Turner Syndrome Global Alliance; and Stephanie Okey, Head of North America, Rare Diseases, and senior vice president and General Manager of the US Rare Diseases business of Genzyme. A replay can be viewed at http://globalgenes.org/june2015webinar/.
As many rare disease patients continue on their journey to become empowered advocates, some may want to consider starting a rare disease center of excellence. This toolkit covers the benefits the centers provide patients, steps that can be taken to establish a center, and what obstacles and challenges may need to be overcome to succeed.
Centers of excellence are valued by rare disease patients because of the complexity of their conditions and the need many of these patients face to seek treatment from a variety of different specialists. Centers of excellence provide an opportunity for coordinated care among a group of specialists, allow for easier access to these specialists, and connect patients and their families to others with the same disease.
Though some people may feel that establishing a center of excellence might present an insurmountable financial hurdle, the reality is that by engaging with a medical professional who can champion the idea within an institution, making a business case for establishing the center, and serving as a conduit to patients and other centers of excellence, it is possible to meet with success without facing any unusual financial burdens.
Rare diseases tend to be complex diseases that require a variety of specialists to provide appropriate care for a patient. Consider tuberous sclerosis complex (TSC), a rare genetic disorder that causes non-malignant tumors to form in different organs, including the brain, eyes, heart, kidney, skin and lungs. People with the disease can suffer seizures, developmental delays, intellectual disabilities, and autism.
“Individuals with TSC require a team of physicians, such as neurologists, cardiologists, nephrologists, dermatologists, pulmonologists—all the ologists—occupational, physical, and speech therapists; and of course, very strong partnerships with educators."
There are many benefits to coordinated care and having specialists work together, especially in the case of rare diseases, where a complex of specialists are often needed to properly treat a patient. The coordination of care allows doctors to build a depth of understanding of a specific rare disease, its treatment, and manifestations. It also allows these specialists to more easily share information about patients, treat them more holistically, and benefit from each other’s understanding.
For patients, the benefits extend beyond the medical care itself. It is often difficult for patients to get access to the many specialists they need. Coordinating appointments and travelling long distances to see doctors can be a significant challenge and require long waits. One of the benefits of a center of excellence is having the necessary specialists available and usually being able to see the various doctors a patient needs to see in the same day at the same location or over consecutive days.
Because of the way these clinics generally schedule patients around specific clinic days, another benefit they provide is bringing patients together and fostering connections between patients and their families. This brings together people from the same geographic region with the same disease and may put children in touch with other children with the same diseases for the first time. It also allows parents of children with a rare disease to connect with other parents and share experiences, information, and advice.