Success in Rare Disease Patient Advocacy — What it Takes

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After her son was diagnosed with SYNGAP1 – an extremely rare gene mutation – Monica Weldon 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, Monica shares her organisations secret to success in the rare-disease space.

 

Due to the inherent challenges facing rare disease communities, such as relatively few patients spread across a large geographic area and few scientists and clinicians familiar with disease biology, it is imperative that all stakeholders work together for the best strategic outcome.

 

Collaboration & Education

Collaboration and education is the key to accelerating to treatments in the rare disease community. There must be a concerted effort to partner with patient advocacy groups, academia and the clinical world of research. As our foundation continues to grow, we quickly adopted the model of leveraging partnerships to drive analysis using data and other methods that accelerated research and available funding in both the private and public sectors.

 

I have had many advocacy leaders approach me and ask how our organisation has moved so rapidly to get to where we are. We have been incredibly fortunate to have 20 years’ worth of animal model data that has been studied and accumulated over that period, giving us an upward advantage of being closer to translational science than most newly discovered genetic diseases.

 

We built this model with our scientific advisory board and is the most critical component of an organisation to meet both short and long-term goals. Many rare disease organisations struggle to find direction and specific goals to achieve while moving at an accelerated pace. The landscape of research is changing, and so is the role of patients and caregivers. Due to the inherent challenges facing rare disease communities, such as relatively few patients spread across a large geographic area and few scientists and clinicians familiar with disease biology, it is imperative that all stakeholders work together for the best strategic outcome. We found ways to leverage our assets (data) and community engagement to help support our scientific advisers’ endeavours. We learned that the value of intertwining academia and clinical research is much more attractive to outside investors in the future once a possible treatment comes available.

 

Strategic planning can only occur after a grasp of how the rare disease landscape is understood. Investing time and education, knowing the stages of research and drug development fitting into the where we were, was the most critical part. That came from attending many different conferences and meetings that focused on areas of drug development, clinical trial design, the purpose for registries, building registries, understanding regulatory rules and how policy affected it all is essential. This phase took close to two full years to understand the rare disease landscape itself.  

 

Advocacy organisations are sometimes not treated as a business. However, it is a significant business and managing it right is critical.

 

Timing & Planning Ahead

Once there is a clear picture of how all the moving parts work, an organisation then has a better idea of where the focus needs to lie. There is a more specific order to follow when getting to treatments. There can be no shortcuts. Shortcuts can cost you valuable time and money and will force you to go back to redo what you missed. Many factors must be taken into account when thinking about what an organisation needs to do to get all the necessary pieces in place and at the right time.

 

Timing is everything, and there is no downtime. Advocacy organisations are sometimes not treated as a business. However, it is a significant business and managing it right is critical.

 

There are several moving parts an organisation must take into account. The most important is how you will increase growth. Every aspect of your organisation, such as advocacy and awareness, patient engagement, development, and research must simultaneously be working to grow your mission.

 

Before moving into our strategic plan, our organisation consulted our medical advisory board to determine where they were in the research, discussing what they knew and what bigger questions they had been asking. To get a better understanding of what was happening, we planned a stakeholder meeting. This meeting included researchers, clinicians, and patient families and involved taking the guesswork out and focusing on what was essential to the families while putting a face on the disorder for the researchers who had never met a patient before. The conference helped pinpoint the areas that our organisation needed to fill-in in a more prioritised way.

 

Sharing Data & Information

The next focus was on creating a registry database that was related to providing the needed information to help scientists understand how the gene was working. If there is an understanding of the function of the gene, it puts us on the path to targeting possible drug candidates for treatments. Understanding effective patient engagement strategies will produce valuable gains in accelerating to treatments while building beneficial collaborations that support it in the rare disease space.

 

The other added benefit of sharing information is that it jump-started a more significant interest in our rare disorder. It has been our experience that this level of cooperation will improve outcomes for everyone involved. Discussing strategies, creating solutions, and implementing programs designed by, and for, the specific population that needs them, is how we plan to move forward as a community.

 

To Conclude

The benefits of collaboration with vested groups of rare disease experts and the patients and organisations that support their research will inherently expedite to treatments. It is essential that the patient organisation understand both the rare disorder research landscape and the emerging standards for clinical care. This level of understanding will facilitate the construction of programs that fulfil both scientific and patient needs. This synchronising of research priorities with foundation programs will help drive and accelerate the process of finding answers to many questions, especially if the organisation is in translational science and drug discovery.

 

We have seen that by maintaining an open dialogue with our scientific advisory board and outside interested researchers, we can directly reshape the landscape of the rare disease space while setting standards for clinical care and possible therapeutic solutions.

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