On October 16, 2016, Bec, her granddaughter Ellayna, and her son Jamey drove 7 hours through the mountains on a gorgeous fall day, arriving in Arlington, Virginia for the annual NORD Rare Diseases & Orphan Products Breakthrough Summit.
The summit began with a welcome from Peter Saltonstall, President and CEO of NORD. Following Peter’s welcome, we heard from Kristen Gray, Co-Founder of Charlotte and Gwenyth Gray Foundation. Kristen’s daughters, Charlotte and Gwenyth, suffer from Battons Disease, a rare genetically inherited disorder which belongs to a group of progressive degenerative neurometabolic disorders, known as the neuronal ceroid lipofuscinoses (NCLs). NCLs are characterized by genetic mutations which disrupt cells’ ability to dispose of wastes, resulting in the abnormal accumulation of certain proteins and lipids (fats) within the nerve cells of the brain and other tissues of the body, resulting in progressive neurological impairment including developmental regression, seizures, blindness, behavior changes and dementia. After the creation of the foundation and excessive fundraising, a clinical trial came to fruition and six children have been treated at Nationwide Children’s Hospital in Columbus, Ohio. As a result of this trial, Charlotte is now stable and Gwenyth is asymptomatic.
Dr. David Flanders, Medical Director American College of Medical Genetics spoke next about Telemedicine and Rare Diseases. Telemedicine is the use of telecommunication and information technology to provide clinical health care from a distance. It helps eliminate distance barriers and can improve access to medical services that would often not be consistently available in distant rural communities. In our case of rare vascular anomalies this would create access to specialists. Several weeks ago, Bec had already arranged an appointment with the VAC (vascular anomalies clinic) team at the Cleveland Clinic to discuss this very option. She will be meeting with the VAC team on November 14th. Please understand, we are in the beginning stages and will undoubtedly have legal and ethical stages to go through, including the process of medical licensure across state lines.
Prior to lunch on day one, we heard from a panel discussing the potential advances through genetic innovations such as whole exome sequencing and gene therapy. The Lunch and Learn Breakout Roundtables offered 20 different topics, we chose Optimal Use of Social Media by Patient Organizations. Each table had a moderator who kept the conversation going, as well as offered their experience in the table’s topic. Facebook is considered the platform used mostly by families searching for advocacy organizations and guidance. While Twitter is more focused toward a professional platform, where people can be connected with medical professionals and pharmaceutical companies.
Collaboration Across Boarders breakout session confirmed that rare diseases are a challenge in a sense of global public health. It is difficult for trials and research to cross boarders, as each country has laws governing the sharing of medical information and the process involved in research. Many countries recognize FDA approval, but if they choose to accept it is another factor. Day one concluded with presentations regarding the Challenges of Access and Reimbursement and the Landscape for Investment. These sessions focused on the idea of experience in the strategic design and delivery of programs that continuously improve patient access to pharmaceutical products and adherence to therapy.
Day two kicked off with a presentation regarding healthcare and the implications expected from the presidential election. Driving Progress Through Policy was addressed through the importance of state-based advocacy and a productive national outlook. The afternoon tracks covered Trending Topics from FDA, Strategies to Address Patient Challenges, and Breaking Down Barriers to Access.
Bec had the opportunity to connect with multiple people over the two days. Through the summit app, arranging meetings with other participants was a snap. Her first scheduled meeting was with Carrie Ostrea of Global Genes. They discussed ideas for outreach and spreading awareness for our organization and the diagnoses we support. Jaime Pacheco of PALS – Patient AirLift Services was meeting number two. Jaime explained that PALS has arranged nearly 11,000 flights since their creation, with approximately 200 flights per month. She also stated that they do not only arrange flights using general aviation, but when necessary can arrange commercial flights. Mary Dunkle – VP Educational Initiatives at NORD was next on the schedule. She and Bec are moving forward on developing their plan to educate nursing students across the country about how to care for rare disease patients. Yasmin Kiera of WEP Clinical contacted Bec for an appointment to discuss how her company could assist our members. Unfortunately, this will be something for the future, as they provide access to drug therapies and we’re not there just yet.
Also during the summit, Bec was asked to participate in two video projects. The first was an initiative NORD introduced to send to medical schools. The purpose is to educate medical students about rare diseases, and the frequency of misdiagnosed as well as undiagnosed patients. The second was by Rare Disease Communications – Rare Disease Report. They are a healthcare communications and media company focused on the rare disease community. Their goal is to raise awareness of rare diseases and orphan drugs so that patients will be diagnosed and treated more efficiently. Their flagship website (Rare Disease ReportTM) and various news sources are seen and shared by physicians, nurses, patients, patient advocates, scientists, and regulators, reaching over 80,000 sources.
The outcome of this summit for our organization was found to be the most beneficial and productive one we have ever attended. Although many topics addressed concepts that are far down the pipeline for us, we can be hopeful of an easier journey, as the pathway has been carved by those before us. But for now, the meetings and videos have a promising possibility of leading to wonderful opportunities for the CMTC-OVM US Organization.