Rare Disease Hero Image

Rare Diseases

Unparalleled commitment to rare disease care and research

M Health Fairview Masonic Children’s Hospital has been named a Rare Disease Center of Excellence by the National Organization for Rare Disorders (NORD). We join a group of only 31 centers nationwide committed to expanding access and advancing care and research for patients with rare diseases.

Contact us

Call us today to connect with one of our rare disease coordinators.

Contact hours:
Monday-Friday: 7 a.m.-5 p.m.

A tradition of leading-edge care

While a variety of factors may cause or contribute to rare diseases, many conditions are believed to be genetic. Our health system performed the first human bone marrow transplant from  a matched donor for a rare disease in 1968; now treatment for many genetic conditions involves blood and marrow transplantation. Since then, patients from around the world have come to M Health Fairview for leading-edge care as we lead the way in diagnosis and new treatments for rare diseases.

In the United States, the definition of a rare disease is a condition that affects fewer than 200,000 Americans at any point in time. The National Institutes of Health estimates that there around 7,000 rare diseases, and it’s currently estimated that the total number of Americans living with a rare disease is between 25 and 30 million. These numbers demonstrate that even though an individual disease may be considered rare, every family could potentially be touched by one, or know someone with one. Many rare diseases are genetic, increasing their impact on families.

If you are concerned that you or a family member may have a rare disease and have struggled to find a diagnosis, or have been recently been diagnosed with a rare disease, contact our expert care team to request an appointment or learn more about our approach to care.

612-672-4009

Rare diseases we treat

Rare disease treatment is complex and we understand that each patient's diagnostic odyssey is unique. Our expert care teams work to treat many different rare diseases, including the following:

Adrenoleukodystrophy (ALD)

We have one of the most experienced centers in the world in the assessment and treatment of patients with ALD. Our multidisciplinary clinic is developed specifically for ALD patients.

Classical Phenylketonuria (PKU)

We have one of the nation’s oldest active clinics for the care of PKU in the U.S. Serving both children and adults, the clinic offers a full range of clinical interventions for this condition, including the latest medication therapies.

Congenital Malformation Syndromes

We offer a full range of clinical care for the diagnosis and management of congenital disorders. We are an active site for clinical trials for children requiring treatment for such conditions.

Cystic Fibrosis

We are home to a highly ranked Cystic Fibrosis Foundation Care Center featuring a full multidisciplinary team and serving persons of all ages who have this complex condition.

Lysosomal Storage Diseases

We are home to the Lysosomal Diseases Network (LDN), a global collaboration for research on these complex genetic conditions. We offer full-spectrum care from infusion therapies to stem-cell transplantation.

Urea Cycle Disorders (UCD)

We specialize in the care of children and adults with UCD and offer diagnostic and management services with a full spectrum of care from diet and medications to liver transplantation.

Wilson's Disease

Specialists in hepatology, neurology, genetics, and others coordinate the process of care for this rare condition and offer treatments from chelation to liver transplantation as indicated.

Undiagnosed Diseases

We have a full team of experts to support you and your family on your diagnostic odyssey, including physicians, genetic counselors, and a full diagnostic laboratory including exome and genome sequencing capabilities. 

How we are leading

A partnership between University of Minnesota, University of Minnesota Physicians and Fairview Health Services combines the University’s deep history of clinical innovation and training with Fairview’s extensive roots in community medicine. This means you’ll have access to the latest techniques and advances in rare disease medicine.

8th

In funding from the National Institutes of Health among departments of pediatrics

46

Rare disease studies in-progress

17

Pediatric divisions
Be part of tomorrow's breakthrough

Be part of tomorrow's breakthroughs

Participate in a study. You can help researchers find new ways to prevent, detect, and treat rare diseases.
Learn more

Frequently asked questions

Contact us

Call us today to connect with one of our rare disease coordinators.

Contact hours:
Monday-Friday: 7 a.m.-5 p.m.

Rare Diseases Stories