Administration

The Minnesota Rare Disease Advisory Council

A new resource for patients and clinicians

BY Erica Barnes, Ma, CCC-SLP

Barriers to Care

Rare diseases are incredibly heterogeneous in their etiology, despite the fact that the majority have a genetic basis. A rare disease may be neurological and degenerative or vascular and stable. It may present in childhood or well into adulthood. But what is striking about rare diseases is how similar the barriers to care are for the majority of people eventually diagnosed. Dr. Paul Orchard, an expert on rare diseases with the University of Minnesota Medical School, said recently “Some of the diseases are genetic and the ability to treat them can be very difficult. If you have a gene that isn’t working correctly, it’s almost impossible with our current technology to cure every aspect of that disease. A small group of rare diseases have specific treatments, but many do not. In many cases, recognizing and curing the disease is not likely; the goal of treatment is to help provide a better quality of life.”

Unfortunately, most rare diseases are characterized by an extreme delay in diagnosis. A 2013 impact report found that the average time to diagnosis for a rare disease patient is seven to eight years. Along the way patients are misdiagnosed two to three times, and many patients (especially those in rural communities) have limited access to a clinician with knowledge of a specific rare disease. When a rare disease patient is finally diagnosed, the short-lived relief is often replaced by the devastation of hearing the words from the medical community, “‘I’m sorry, there is nothing we can do.’” The grim fact this is that currently only roughly 5% of the 7,000 rare disease communities have an FDA approved treatment. When all of these factors are considered, it is not surprising that health quality of life measures for rare disease patients fall below even chronically ill patients diagnosed with more common diseases.

Rare diseases affect between 25 and 30 million Americans.

Responding to the Need

In 2019, a grassroots coalition of 42 organizations led by rare disease patients and caregivers themselves recognized the urgent need to identify and address the common barriers to care at the state level in Minnesota. Due to their efforts, the state unanimously voted to create the Minnesota Rare Disease Advisory Council (the Council), and in July 2022, the Council transitioned to becoming its own state agency. The vision of the Council is to improve care for the rare disease community by ensuring that every Minnesota citizen living with a rare disease has access to a timely diagnosis and expert/coordinated care, as well as individualized treatment, management and support throughout the their lifespan. It realizes this vision through providing advice on research, diagnosis, treatment and education related to rare diseases.

The Council has defined the following goals: 

• Be a comprehensive policy and informational resource for the state of Minnesota for all stakeholders who have engagement with the rare disease community.
• Support and empower the rare disease patient community to advocate for improved quality of life.
• Support and equip the medical community to better address the unique needs of the rare disease community in order to reduce health disparities.



The work to diagnose and treat rare diseases is increasingly possible and other states have formed similar councils. Recently, the National Organization for Rare Disorders (NORD) named M Health Fairview Masonic Children’s Hospital one of its initial cohort of institutions designated as Rare Disease Centers of Excellence. Each Center for Excellence was selected by NORD in a competitive application process requiring evidence of experience and expertise across multiple specialties to meet the needs of rare disease patients and a history of significant contributions to rare disease patient education, physician training and research.

As a recognized national health care leader, these are important steps for Minnesota to be taking. Mayo Clinic recently announced a new strategic collaboration in biomanufacturing to deliver novel biotherapeutics for rare and complex conditions. The collaboration brings together science, engineering and manufacturing to advance Mayo Clinic’s vision of bringing new cures to clinical care. The focus will be on therapies derived from human sources known as biologics— cells, blood, enzymes, tissues, genes or genetically engineered cells—for use in medicines. Therapeutics based on biologics have the potential to target exact tissues needing repair. “Mayo is making significant investments in facilities to create the world’s most advanced and innovative ecosystem for the development, manufacture and delivery of biotherapeutics. We are seeking to build a community of innovators to explore ideas, develop new products and create thriving biotherapeutic companies,” says Julie Allickson, PhD, the Michael S. and Mary Sue Shannon Family Director of Mayo Clinic’s Center for Regenerative Medicine. “This nexus of entrepreneurs, startups and industry experts will help position Mayo Clinic as an authority in regenerative biotherapeutics.” Dr. Allickson is also the Otto Bremer Trust Director, Biomanufacturing and Product Development, Center for Regenerative Medicine. To support this new venture, Mayo Clinic has formed a strategic collaboration with National Resilience, Inc., to establish Rochester as a center for biomanufacturing regenerative technologies.” Mayo Clinic will advance regenerative technologies from discovery science to early phase clinical trials,” says Gregory Gores, M.D., Kinney Executive Dean of Research at Mayo Clinic. “Research in the emerging field of biotherapeutics lays the foundation to attract the scientific workforce of the future.” The collaboration has these areas of focus:

• Process development expertise to advance Mayo Clinic biotherapeutics.
• Working together to attract biotech companies interested in sponsoring clinical trials at Mayo Clinic for novel regenerative biotherapeutics.
• Providing cell and gene products needed for biomanufacturing early-stage therapeutics.
• Analytical testing and quality control required for manufacturing commercial grade biopharmaceuticals.

Mayo’s goal in developing expertise in biomanufacturing new biologic-based medicines is to accelerate clinical care options that provide new hope for patients.

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What to Know About Rare Disease

The challenges in providing equitable care to the rare disease community are real. Indeed, even recognizing that the rare disease community is a subset of the health care population with unique barriers and collective challenges has only come in recent years. Donald Berwick, in his seminal work that established the triple aim of health care, said “Only when a population is specified does it become, in principle, possible to know about its experiences of care, its health status and the per capita cost of caring for it.” If we are to make real progress, we must first acknowledge the community and challenge our own biases as a health care system. Perhaps one bias that has contributed to the delay in diagnosis is the medical school axiom, “when you hear hoofbeats look for horses and not zebras”. This well intentioned phrase may keep eager young medical students from misdiagnosing common diseases as rare, but it may also bias those same future clinicians from recognizing symptoms of a rare disease if and when they encounter them.

Closing the gap in providing care will not be easy. There are many factors that cause inherent difficulties in making a timely diagnosis. Population heterogeneity means that no single clinician can learn all there is to know to provide care for all 7,000 rare diseases and even the low prevalence of individual rare diseases means that accumulating knowledge for a disease population is difficult. These challenges are even more pronounced in greater Minnesota due to the nature of complex care since it is often concentrated in urban and academic settings. This means that if a rare disease patient is going to receive care from a clinician knowledgeable about their disease they will have to travel or the knowledge will have to come to them. The last several years have demonstrated that telehealth is a practical tool for health care delivery. Far from simply a convenience, telehealth has opened up access to specialized care for some rare disease patients that they would have otherwise not been able to receive. Ensuring that telehealth is available on a permanent basis to rare disease patients is a significant step in the right direction.