The annual Global Genes Rare Patient Advocacy Summit is wonderful place for families affected by rare disease to come together and interact face to face with advocacy leaders in addition to pharmaceutical companies and biotechs.  Between the 2018 event’s general sessions, break out presentations, and exhibit hall, there were endless opportunities to learn.

Chronic illnesses, especially those of a rare variety can be incredibly isolating day to day. This event brought people together with and fostered community and solidarity beyond diagnoses. Presenter Amy Price, MA, spoke about feelings of isolation and grief as a caregiver and cited a survey she conducted of others who were caring for a loved one with a rare disease. She found that 92% of participants felt like people outside of the rare disease community didn’t understand their families’ situation. 75% of participants felt that people within the rare disease community understood them better than others. 25% of the caregivers said they did not feel “normal” by general society standards, but 75% said they felt normal by their rare disease community standards.

The chance for rare disease families to be in the same room with one another and connect is invaluable. Amy’s research shed light on why these events mean so much to the rare community. Strangers became quick friends as they moved quickly past small talk and unearthed their fears and hopes.

Presenter Seth Rotberg stressed the importance of having a support system, in whatever form it may take, listing family, friends, and other conference attendees.

“We’ve got to find those people who understand us for who we are, without just defining us by our disease, but by who we are as a person” -Seth Rotberg, Board Member, HDYO

Collaboration was a recurring theme at the event; between fellow patients and caregivers, to patients and advocacy groups, to patients, advocacy groups, and industry.

The insight that patients and caregivers have alone, and the value of that insight, was acknowledged thorough the summit; encouraging the hope that it will be recognized elsewhere.

“Nobody knows more about a rare disease than the families. Families have a lot of important information that should be shared with researchers.” -Daniel Fischer, Founder of Tevard Biosciences, Program Director, MIT

That knowledge, coupled by unmatched passion, can help advance, and improve, rare disease research and drug development. It was stressed at the summit that the way in which patients and caregivers are included in these processes is incredibly important.

• Patients need to be involved early in the drug development process. They should not just be brought in as clinical trial participants, but rather invited to the table as vital voices in the development of clinical end points.

“In the end it’s not just ‘is there a statistical difference’ but rather, ‘is there a meaningful difference in a patient‘s life’ before putting a therapeutic agent forward” -Jeffery Sherman Chief Medical Officer Horizon Pharmaceutics

• Patients and their conditions should be understood within the context of their humanity. Luke Rosen explained that there is a need to differentiate between a structural understanding of a condition and an impactful understanding.

 “Our children are not just phenotypes. We want to move from patient focused, to human focused.”- Luke Rosen, Founder, KIF1A.org

• Patients and caregivers need to be brought in as partners in these endeavors and the burden of their participation in clinical trials needs to be acknowledged and reduced. This will make the lives of participants, who already have so much on their shoulders, easier, and will make more people willing to participate so industry will benefit as well.

Scott Schliebner from PRA Health Sciences called for a paradigm shift in order to create clinical trials that fit seamlessly into a patient’s life. Dr. Philippakis spoke of a changing dynamic of patients and researcher that allows the two groups to collaborate as partners via direct to patient research.

Advancements in research initiatives were shared at the summit by various groups. Stephen Groft presented the exciting goals of the International Rare Diseases Research Consortium (IRDiRC) which included “All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if their disorder is known in the medical literature”, and entering patients who could not be diagnosed into a globally coordinated diagnostic pipeline. The IRDiRC also set sites on a quantitative goal for the approval of new therapies and a goal for the development of methodologies to assess the impact of therapies on rare patients.

Clifford Goldsmith detailed the efforts of the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease to shorten the time to diagnosis by examining the intersection between science and technology. The Commission is focusing on patient and family empowerment first line provider engagement, reimagining genetic consultation, and global policy recommendations.

Promising advancements in research were presented, from anti-body guided ERT, RNAi Therapeutics, gene therapy, and the use of tissue chips.

There are still a lot of unknowns. The first RNAi therapeutic was just recently approved. Gene therapy has been underway but researchers can’t give an exact time frame for how long results will last, or what the costs may be like in the future.

These advancements, however, bring hope and promise of acceleration of the development of possibly efficacious treatments if not cures, for many in the rare disease community.

Several pharmaceutical groups encouraged advocacy group leaders to contact the pharmaceutical company working in their disease space, while stressing, on the industry side, the importance of listening.

Daniel Fischer touched upon how patient and caregiver involvement in industry and advocacy is mutually beneficial in multiple ways.

“Find something, and get involved. You’re not alone, find others and partner with them. Raise awareness. Bring the passion that patients and caregivers have, and the sense of urgency. Feeling that we can do something is healing.” -Daniel Fischer, Founder of Tevard Biosciences, Program Director, MIT

Patient groups were encouraged to strive towards organizing themselves in order to more efficiently collect data to advance research. “Everyone starts somewhere.”-Tiffany Westrich-Robertson, CEO, ‎IFAA, encouraged patients to organize, even if that starts with a Facebook group.

 “Research is where rare disease groups must work together: set up a research network. No single group can afford to do research alone, and you will not be successful.” -William Davis, CEO, A-T Society

The event closed with the presentation of initiative THRIVE. THRIVE is meant to encourage members of the rare disease community; all stakeholders, to embrace and enact: honest communication, trust, respect, intentionality, vulnerability, and to seek to empower and engage. You can join us in committing to THRIVE here.

Did you attend this event? Let us know what your experience was. Share your stories, thoughts, and hopes with the Patient Worthy community!