A Rare Experience

Lynda Brown-Ganzert, CEO, Curatio.me

May 11, 2019

No matter how many times I do it, walking into a room filled with strangers makes me nervous. Will anyone speak to me? Will I have anything in common? How will I connect?

This past weekend, Rare Diseases International and the Canadian Organization for Rare Disorders (CORD), held an international gathering in Toronto, Canada. I was honored to speak at the conference and once again, I found myself walking into a room full of strangers. But this time was different.

From the moment I arrived, I was warmly welcomed, eagerly befriended and humbly connected to an important international conversation on rare diseases. This is the first time the conference, “A Rare International Dialogue” has been hosted in North America, and it quickly became evident not only of the need to discuss rare diseases, but also the imperative to connect and take urgent action.

There are 6,172 rare diseases, a staggering number presented by Debby Lambert, Information Scientist from Orphanet. In fact, if you combined everyone living with a rare disease, it would be the 3rd largest country in the world as Bert Bruce, Vice President, Global Marketing, Rare Disease from Pfizer pointed out. And yet, the gaps in knowledge, data, care and access are profound and heartbreaking.

Rare Disease Heroes celebrated at Rare Diseases International/CORD conference this past weekend: Dr. Marlene Haffner, Former FDA Director of Orphan Product Development, Yann Le Cam, CEO of EURODIS Dr. Min-Chieh Tseng, Co-founder of Taiwan Foundation for Rare Disorders

Rare Disease Heroes celebrated at Rare Diseases International/CORD conference this past weekend: Dr. Marlene Haffner, Former FDA Director of Orphan Product Development, Yann Le Cam, CEO of EURODIS Dr. Min-Chieh Tseng, Co-founder of Taiwan Foundation for Rare Disorders

Take Tatiana Kulesha’s journey to address the lack of care for patients with pulmonary hypertension. Tatiana’s work started with advocacy for her own teenage son deprived of treatment after age 18 in the Ukraine, and has now extended to a national rally for young adults. In Taiwan, Dr. Min-Chieh Tseng, Co-founder of Taiwan Foundation for Rare Disorders succeeded, after numerous failed attempts, to develop a national approach towards rare disease policies, access to care and awareness. Closer to home, Gail Ouellette, Director, at the Regroupement Québécois des Maladies Orphelines continues to lobby for policy changes to newborn screening in Quebec as the only province without this early rare disease screening step. And as Yann Le Cam, CEO of EURODIS from Europe, poignantly noted “we translate the tragedy of our lives to creative initiatives.” So many of the stories talked about being thrust into the role of scientist, geneticist, navigator and advocate, often after the loss of a child or the search for their own diagnosis.  Worldwide, patients and parents are struggling to fill the gaps in data, research and care – a seemingly impossible task.

Making the impossible, possible, is a suitable descriptor for Durhane Wong-Rieger, Chair of Rare Disease International and CEO of CORD. Widely regarded for her leadership in connecting the rare disease community worldwide, Durhane called for coordinating the ecosystem for rare diseases. Joining this rallying cry was Senator Mary Harney, the Former Minister of Health in Ireland. Like Durhane, Senator Harney stressed the need to raise awareness, to organize and to make change through policy and partnerships. It’s a task we increasingly share.

According to Orphanet, the most common rare diseases worldwide have a frequency of 1-5 per 10,000. As we move towards personalized medicine and understanding our own genetic makeup, rare diseases become less rare. It could be said that in the near future all diseases will be considered rare diseases because of the personal differences in genetic makeup, social and environmental factors. In fact, approximately 72% of rare diseases have a genetic basis leaving a wide margin for unique social and environmental considerations. Finding these missing puzzle pieces is complex given the massive range of variables. Despite the diagnostic breakthroughs and brilliant research, such as Dr. Kym Boycott’s, work at CHEO Research Institute, Dr. Jan Friedman’s work in genomic technology at the University of British Columbia and the global linkages made by Daria Julkowska, Scientific Coordinator of the European Programme on Rare Diseases and E-Rare Net, the lack of coordinated systems, tools and policies are barriers to making connections that will save and improve the lives of millions.

Pointing towards action, Murray Aitken, Executive Director from IQVIA Institute for Human Data Science, sees an important role for technology in making those connections. Murray provided a 4-point call to action that included patient engagement, harnessing real world evidence, building sustainable markets and being able to measure impact. He noted that “patient groups hold the keys to the kingdom” and that pre-screened patient pools could accelerate research and development. Murray passionately highlighted the need to reduce the burden on patients and to use technology to do everything from remote monitoring to personalized data collection to measuring impact to ease the patient workload. He made the important point of measuring beyond efficacy, and the need for factoring in the environment and social aspects of a patient’s journey.

The theme of social support and understanding social factors ran through many of the sessions. At Curatio, we hear this from every patient group and partner we work with – the isolation, stigma and lack of connection that often comes with any disease. Curatio builds private social mobile networks for healthcare. We help connect and match patients to each other and provide support, education and tracking tools that give patients and their stakeholders the insights they’re missing. We’re one piece of the puzzle and we’re passionate about connecting pools of patients to help empower and fast track research and development.

Being diagnosed with a rare disease, must, in some very small way, feel like walking into a room of strangers and looking for a point of connection. The challenge of finding that connection with a rare disease is, in many cases, a million times harder. Thanks to the commitment and endless efforts of the group gathered this weekend, it’s a bit easier to find support, information and connections. Their work should be supported and their recommendations acted upon.

Lynda Brown-Ganzert is the CEO of Curatio – a private social network platform with patients and partners in over 85 countries. Curatio uses a unique combination of matchmaking and AI technologies to build and connect private patient groups.

Stephanie Oey