Engaging Patients and Communities for Better Outcomes

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After her son was diagnosed with SYNGAP1 – an extremely rare gene mutation – Monica founded Bridge the Gap – SYNGAP Education and Research Foundation to support families of those suffering from the illness and to accelerate the path to better therapies. Here she discusses the importance of community for tackling rare diseases.

The most important goal a community pursues is to find common ground on what the community as a whole needs and wants from advocacy, research and fundraising efforts.

Advocacy Organizations have a critical role in advancing research to treatments, playing many organizing and catalytic roles to help drive the factors that contribute to positive outcomes which drive and accelerate breakthrough treatments.

The common theme of the NIH/NCATS Day 2018 – a day dedicated to bringing thought leaders in how to improve translational research – was relationships. Relationships with Clinicians and Researchers are, of course, critical to identifying patients fit for research; but there is one more relationship that was the centre of focus. This was the relationship of the entire patient community and how to foster a cohesive bond between the families, as well as across different organizations that are created to represent their best interests when participating in research of new treatments.

While everyone had a story to tell from their experiences with research and trials, Dr. Christopher Austin asked a very poignant question, specifically about the different splinter groups created around one rare disorder. “How do the funders [NIH and Institutions] working with these groups fairly allot resources if they [disease groups and advocacy organizations] are divided?” In his explanation, he described how groups that lack cohesion in their goals and objectives present a dilemma in how and to whom the funding goes, risking being looked over in lieu of other diseases where there might be more unified disease organizations altogether.

Rare Disease Communities already have many different and more significant challenges they face when driving research to treatments. One of the most obvious challenges is the small number of diagnosed cases in the population. For us as rare disease advocates, we recognize that this makes it even more important for us to work as one community, even if operating under a shared umbrella. The consequences of dividing a community can be detrimental in progress and causing it to stop completely.

Megan O’Boyle, from the Phelan McDermott Syndrome (and herself a patient and advocate), minced no words on her panel when asked about the consequences of splintering a rare community among different organizations trying to accomplish the same goals: “Having communities that are divided can cause the data and funding pools to be diluted. Funders consider whether a rare disease has multiple, competing entities representing it. They do not want to be put in the position to choose one group to fund/work with vs the other. Researchers and industry are also deterred from working with competing groups as they do not want to be “stuck in the middle” of whatever conflict caused the entities to split.  In addition to deterring funders, researchers and industry from wanting to work with a divided community, competing patient organizations within a condition create confusion for the patient/families needing support and raising funds. Competing groups often create distractions from the original mission of the community – providing support and advancing research.”

The most important goal a community pursues is to find common ground on what the community as a whole needs and wants from advocacy, research and fundraising efforts. As parents and advocates, we all know that’s not easy; it requires patience and openness to evolution and respectful dialogue to maintain focus on:

  • Agreeing on measurable goals
  • Pursuing the execution of steps that get research funded
  • Agreeing on how and where we collect the needed data from patients to hit funding milestones that unlock even more support

We do all of this together without leaving behind the necessary resources and bandwidth to support new families and connect them with their new ‘rare family’ around the world –that makes us a community to each other. Many organizations represented at Rare Disease Day sent an unequivocal reminder that whether a community has only one advocacy organization or more, potential progress relies on openness, collaboration, and shared core goals that facilitate working with the people passionate enough to help us.

The first step into achieving this is understanding the path to drug development, then assessing the state of your disease in research and creating goals to achieve them.

Follow Monica on Twitter: @mlweldon5

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