Ehlers-Danlos syndromes (EDS) represent a group of inherited connective tissue disorders characterized by joint hypermobility, tissue fragility, chronic pain and multisystem complications. 

Hypermobile EDS and related hypermobility spectrum disorders are considered to affect as many as one in 500 individuals, indicating a substantially higher prevalence than once recognized. 

Despite this growing awareness, delayed diagnosis, fragmented care pathways and limited research investment continue to shape patient experiences.

In an interview with Xtalks, Sandy Smeenk, Founder and Director of the EDS Canada Foundation, discussed how the organization is working to address longstanding gaps in care coordination, research infrastructure and public understanding. She explained that the foundation’s origins were rooted in patient realities, noting that it was created in response to “the gap between the lived experience and access to care for patients,” where families are often navigating complex and misunderstood conditions without coordinated support.

Addressing Diagnostic Delays and Fragmented Care

EDS affects multiple physiological systems, including the musculoskeletal, vascular, gastrointestinal and autonomic nervous systems. This multisystem nature often results in patients being referred across numerous specialties before receiving a definitive diagnosis. According to Smeenk, delayed recognition remains one of the most significant barriers to optimal outcomes.

Many patients continue to experience prolonged diagnostic journeys, sometimes spanning years. Women, in particular, may wait as many as 16 years before receiving confirmation of their condition, and 90% of those affected by hypermobile EDS are women.

During this period, individuals frequently face unmanaged chronic pain, preventable complications and psychosocial stress associated with being misunderstood or dismissed in clinical settings. 

As Smeenk noted, “many patients are not recognized early. They’re told symptoms are unrelated or dismissed altogether.”

The current healthcare model, largely structured around organ-specific specialties, can compound these challenges. Smeenk emphasized that this mismatch contributes to fragmented care delivery because “EDS is a multisystem disorder,” while health systems are not always designed to support integrated management. 

To address this, the Foundation is developing an integrated primary care and physician-specialist EDS toolkit aimed at supporting earlier recognition and more coordinated care pathways across Canada.

Research Gaps in a Complex Connective Tissue Disorder

Although awareness of EDS is improving, research investment has not always kept pace with the disease burden. Funding limitations continue to slow progress in elucidating underlying biological mechanisms, refining diagnostic criteria and advancing therapeutic development.

Pain science represents one area where research momentum is increasing. However, broader priorities include improving understanding of vascular safety considerations and long-term outcomes across EDS subtypes. Hypermobile EDS, given its relatively high prevalence, has become a particular focus for evidence-generation initiatives.

Smeenk highlighted the need for stronger infrastructure to support scientific progress, noting that “we also need stronger national data collection, clear clinical guidelines and sustainable research funding streams.” 

Developing national registries, shared data platforms and harmonized ethical frameworks is viewed as critical to enabling scalable, credible research programs that can translate into clinical practice improvements.

Collaboration as a Driver of Progress

The EDS Canada Foundation places significant emphasis on multidisciplinary collaboration involving clinicians, researchers, policymakers and as Canada’s only charity dedicated to supporting the EDS community, EDS Canada Foundation aims to work together in cohesive collaborations to enable meaningful patient engagement..  

Smeenk underscored that effective partnerships depend on clearly defined roles, transparent governance and alignment around measurable outcomes.

Educational initiatives show this collaborative model in practice. Through EDS Canada Foundation’s annual healthcare education and patient learning conference, the Foundation convenes specialists from multiple disciplines to share emerging knowledge while facilitating dialogue with individuals living with EDS. According to Smeenk, these interactions are impactful because they help “shape research studies and build knowledge and confidence among healthcare providers and their patients.”

She also stressed the importance of patient-centered research design, emphasizing that when organizations “co-design initiatives with the community, rather than around the community, the outcomes are more relevant and more sustainable.”

Advocacy and System-Level Change

Beyond research and education, advocacy remains a central component of the Foundation’s strategy. Persistent misconceptions about EDS can influence both clinical attitudes and policy priorities, reinforcing inequities in access to knowledgeable care.

The organization is working to elevate public and professional awareness of the condition’s severity and its impact on quality of life. Strengthening coordinated care models, expanding clinician education and improving national data infrastructure are key priorities. Sustainable fundraising and strategic partnerships are also viewed as essential for scaling programs responsibly and ensuring that progress compounds over time.

Opportunities for the Life Sciences Community

Smeenk emphasized that the broader life sciences ecosystem has a critical role to play in advancing EDS research and care innovation. Cross-disciplinary collaboration spanning genetics, neurology, cardiology, gastroenterology, immunology and pain science could accelerate progress in diagnostics, biomarker discovery and targeted therapeutic development.

Early and meaningful patient engagement is another priority. Involving individuals with lived experience not only improves study relevance but can also strengthen trust and facilitate translation of scientific advances into clinical practice.

Looking ahead, the Foundation aims to serve as a bridge connecting patients, clinicians and researchers to support cohesive national strategies that align infrastructure with the complexity of connective tissue disorders. As Smeenk summarized, “complex multisystem conditions require scale and coordination.”

Through advocacy, research partnerships and education initiatives, the EDS Canada Foundation continues to push for systemic changes that could shorten diagnostic timelines, improve multidisciplinary care delivery and ultimately enhance outcomes for individuals living with EDS.

The following message was provided by Sandy Smeenk, Founder and Director of the EDS Canada Foundation.

A Note from Sandy Smeenk and the EDS Canada Foundation

Fifteen years ago, when the EDS Canada Foundation began working collaboratively with key stakeholders, we were advised that meaningful change in healthcare would take time. We were told to expect progress within five years — more realistically, ten.

Today, fifteen years later, it is deeply troubling to reflect on the political and bureaucratic barriers that continue to hinder the system. Patients are still left without adequate access to neurosurgical care, and many struggle even to enter appropriate diagnostic and treatment pathways.

This ongoing reality has been both frustrating and motivating. As a charity serving the EDS community, we are constantly balancing advocacy for systemic change with the urgent, day-to-day needs of those we support. Increasingly, the gaps in the healthcare system have forced us to focus on direct services — ensuring individuals receive the guidance, support and care they cannot reliably access elsewhere.

Each month, we provide up to 200 wellness sessions. We offer educational resources to help individuals navigate the complexities of the healthcare system, while supporting them in balancing school, work, self-care and daily life. In addition, we host psychologist-led support group sessions twice per month, creating safe spaces for connection, understanding and mental health support.

But the reality is this: we cannot meet this growing need alone.

Every wellness session, every support group and every resource we provide exists because of the generosity of those who believe that patients deserve better. Your support allows us to continue filling critical gaps in care today — while we keep pushing for the systemic change that is long overdue.

If you believe in a future where individuals living with EDS have timely access to diagnosis, care and dignity within the healthcare system, we invite you to stand with us.

Donate today. Help us provide care now — and drive the change that cannot wait another fifteen years.