Overview
If your child is living with a rare disease, you may have spent months or years searching for answers. This is partly because many rare diseases – and there are around 7,000 of them – are difficult to diagnose, are not well understood, and may have wide-ranging symptoms that affect several of the body’s systems, which further complicates treatment.
When families across the country need answers before or after a rare disease diagnosis, they come to the world-renowned rare disease experts with M Health Fairview Pediatrics. We’re by your side every step of the way, from testing and diagnosis to development of a tailored treatment plan and lifelong follow-up care. We can even help secure insurance authorization for the newest therapies. Because many rare diseases have a genetic component, we can help you understand what your child’s diagnosis may mean for other members of your family.
Our team includes the best academic minds and the most caring hearts from a wide range of medical specialties, as well as patient navigators, genetic counselors, pharmacists, care coordinators, certified child life specialists, social workers, dietitians, therapists, case managers, and many others. We work together as one, with your child and your family at the center.
The comprehensive expertise available at M Health Fairview Pediatrics is why we’re one of only a handful of health systems nationwide that have earned a prestigious Rare Disease Center of Excellence designation. Families come from around the world to get the answers they need – and access to the most innovative treatments available anywhere.
Ready to take a step toward answers? Connect with our expert care team and learn more about our approach by requesting an appointment.
Conditions and Treatment
- Adrenoleukodystrophy(ALD)
- Epidermolysis bullosa
- Lysosomal storage diseases (LSDs)
- Muscular dystrophies and related disorders
- Pediatric chronic pancreatitis
- Pediatric congenital adrenal hyperplasia
- Pediatric cystic fibrosis
- Pediatric phenylketonuria
Please Note: This is not a complete list of all the pediatric conditions we treat through our Rare Disease program. We diagnose and treat a wide range of issues. To inquire about a specific condition, or for more information, please call our Rare Disease program at 612-672-4009.
Why M Health Fairview
Benefits of an academic health system
Unlike most other hospitals and health systems, academic-driven health systems are connected to a university, particularly to a medical school. Academic health systems are the first institutions to benefit from leading-edge clinical research as it moves from the lab to the bedside, often because they have performed this research. In many cases, academic programs are large enough to support a wide range of rare disease specialists. They typically have invested in state-of-the-art equipment that enables them to lead the way at the forefront of rare disease diagnosis and treatment. These institutions are also the training grounds for the next generation of rare disease doctors through medical residence and subspecialty fellowship programs.
Value of multidisciplinary care
Rare disease treatment is complex. At different points in your treatment plan, your care team may include people from several specialties, including subspecialists, genetic counselors, child family life providers, pharmacists, and care coordinators, among others. To get the best care, it can be helpful for all of your doctors to work together as a unified, interdisciplinary team. This meeting of minds allows for the exchange of ideas, helping you make informed decisions about your treatment and resulting in a more coordinated, smoother journey for diagnosis and treatment. From dermatology and nephrology to hematology and gastroenterology, our team expands to include subspecialists depending on the specific disease and your child’s unique needs.
A decades-long legacy of rare disease care
Our rare disease capabilities are built on our longstanding strengths in academic medicine and whole-child care that puts families first. We have led the way in rare disease diagnosis and treatment for decades. Our health system performed the world’s first human bone marrow transplant from a matched donor for a rare disease in 1968. Today, we continue to lead the way by breaking new ground with gene therapy techniques that can replace a damaged gene with a functioning copy.
The difference a world-class specialty pharmacy makes
Fairview Specialty Pharmacy is one of the most advanced specialty pharmacies in the industry. Our pharmacists are integrated into the care team and have expertise in rare disease medications and infusions. That’s just one reason our pharmacy was the second in the nation to earn accreditation as a URAC-designated Rare Disease Pharmacy Center of Excellence. Our staff are extensively trained and are passionate about providing exceptional care while educating patients and families about medications and treatment.
Our rare disease team includes some of the brightest minds and biggest hearts in medicine.
Our Rare Disease program is located at our nationally recognized academic children's hospital and outpatient clinics in Minneapolis.
A partnership between the University of Minnesota, University of Minnesota Physicians, and Fairview Health Services, M Health Fairview Pediatrics combines the university’s deep history of clinical innovation and training with Fairview’s extensive roots in community medicine. This means your child, and your family, has access to the latest techniques and advances in rare disease medicine.
8th
17
46
Rare Disease Resources
Family Resource Guide
Starting a child's rare disease care journey at M Health Fairview? Review our resource guide for information about our program, locations, and services.
Blood and Marrow Transplant and Cellular Therapy
The Blood and Marrow Transplant Program (BMT) at M Health Fairview Masonic Children's Hospital is among the world's best. Our renowned BMT program is the site of innovative treatments, research studies, and clinical trials with our trailblazing researchers investigating new frontiers in stem cell therapy and immunotherapy.
Diagnostic Laboratory
Our nationally recognized reference laboratory offers the largest and most comprehensive test menu in the Twin Cities metro area. We have expertise in handling and processing pediatric specialty samples using micro-sampling techniques, and we maintain a strong emphasis on quality, accuracy, and timeliness.
Genetic Counseling
Many medical conditions have a component that involves genetics or metabolism. Our genetic counselors help you understand how a genetically based disorder can affect you and your family. Genetic counselors also help families make informed decisions about genetic testing and help interpret test results.
Maternal Fetal Medicine
At M Health Fairview's Maternal-Fetal Medicine (MFM) Centers across the region, our providers specialize in high risk, medically complicated pregnancies. If a concern is detected before birth, MFM providers partner with our rare disease team to connect families with the right next steps for diagnosis.
Solid Organ Transplant Programs
Treatment for some rare diseases may require an organ transplant. Fortunately, M Health Fairview has one of the world's oldest and most successful transplant centers, with more than 50 years' experience and more than 12,000 organ transplants conducted.
Specialty Pharmacy
The expert team at Fairview Specialty Pharmacy are experts in rare disease therapies. That's why we were the second specialty pharmacy in the nation to receive designation as a URAC Rare Disease Pharmacy Center of Excellence.
Total Pancreatectomy and Islet Auto Transplant (TP-IAT) Program
In 1977, our health system performed the first TP-IAT in the world to treat chronic pancreatitis. Since then, our surgeons have performed more than 600 procedures, with over 100 of them on children ages 3 to 18.
Frequently Asked Questions
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 are approximately 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 at least know someone with one. Many rare diseases are genetic, increasing their impact on families.
There are many causes of rare diseases. Many are believed to be genetic, which means they are directly caused by changes in genes or chromosomes. In some cases, the genetic changes that cause the disease are passed from one generation to the next. Other times, they occur as a new condition in a family.
Approximately 50,000 people in Minnesota have a rare disease, half of whom are children. Many families go through an extensive diagnosis process that can take years, sometimes called a “diagnostic odyssey." Sorting out the signs and symptoms of a rare disease can be difficult, and the clues for diagnosis may not be very specific. This can lead to an individual being misdiagnosed at first. Fortunately, there are new, specialized forms of testing that can help the rare disease team in diagnosis, particularly genetic tests.
M Health Fairview’s team treats rare diseases of all kinds. The following is only a partial list. To inquire about a specific condition, please contact us.
- Adrenoleukodystrophy
- Alagille syndrome
- Alpha-1 antitrypsin deficiency
- Alport syndrome
- Charcot-Marie-Tooth disease (CMT)
- Pediatric congenital adrenal hyperplasia
- Connective tissue diseases
- Cowden syndrome
- Craniosynostosis
- Pediatric chronic pancreatitis
- Pediatric cystic fibrosis
- Dyskeratosis congenita
- Epidermolysis bullosa
- Fabry disease
- Familial adenomatous polyposis
- Fanconi anemia
- Gaucher disease
- Pediatric growth disorders
- Hemochromatosis
- Hunter syndrome
- Huntington's disease
- Hurler syndrome
- Immunodeficiency disorders
- Inherited metabolic disorders
- Juvenile polyposis syndrome
- Klinefelter syndrome
- Krabbe disease
- Marfan syndrome
- Metabolic disorders
- Metachromatic leukodystrophy (MLD)
- Muscular dystrophies and related disorders
- Neurofibromatosis
- Noonan syndrome
- Osteogenesis imperfecta
- Pediatric phenylketonuria
- Prader-Willi syndrome
- Russell-Silver syndrome
- Turner syndrome
- Von Hippel Lindau syndrome
- Wilson’s disease
While a lot of progress has been made in learning how to diagnose, treat, and prevent a variety of rare diseases, there is a lot of work to do because many rare diseases are still without treatments. A University of Minnesota team conducted the first successful human bone marrow transplant from a matched, related donor in 1968 for a patient who had a rare disease known as severe combined immunodeficiency. At that point, we set the stage both in blood and marrow transplantation and in the treatment of rare diseases.
Because M Health Fairview has been a leader in the rare disease world, many are turning to us to lead the way in gene therapy. Traditional drugs minimize symptoms rather than cure the disease, but gene therapy has the potential to correct underlying genetic defects, which can lead to a cure rather than simply managing symptoms. Gene therapy is finally becoming available for specific genetic conditions, though much work remains before treatments are available for all rare diseases.
Many rare diseases can be treated by solid organ transplantation, especially liver and kidney transplants. M Health Fairview has one of the largest pediatric solid organ transplantation programs in the country. We can assess if a transplant will help you or your child.
Our genetics and metabolism experts are like rare disease detectives. They follow the clues, beginning with the patient’s symptoms and the bodily systems that those symptoms affect. Then they dig deeper to determine a genetic or metabolic cause, if possible, to help them arrive at a diagnosis. And as so many rare disease families know, having a diagnosis is crucial. It helps the care team understand what is happening, why it is happening, what the future course of the disorder might be, and what can be done to treat the cause or manage the symptoms.
Gene therapy uses modified or healthy genetic material to treat or prevent disease. As an example, for some rare diseases, we can use a gene therapy product to put a normal and functional copy of a gene into a person’s bone marrow stem cells or in their liver. In other words, we’re using the person’s own cells to deliver the healthy gene. Right now, this is available for just a handful of genes, but has been growing by leaps and bounds over the last decade.
Clinical trials are research studies that aim to develop and test new treatments for diseases, including rare diseases. Some clinical trials may also study detection and diagnosis. Clinical trials are a crucial part of the fight against rare diseases: Today’s innovative advances in detection and treatment are all the result of previous clinical trials. And tomorrow’s clinical trials may hold the key to finally curing rare diseases themselves.
Participation in clinical trials is voluntary, and people with many types and stages of rare diseases may be eligible. Taking part in a clinical trial may expose patients to a new therapy that could be an effective treatment for them. Clinical trial participants are also helping to save lives by testing innovative treatments for future patients. To find out if a clinical trial may be right for you, talk with your child’s healthcare team.
Our Child Family Life Services team partners with rare disease patients and families to help them understand, navigate, and cope with their hospitalization, healthcare experiences, illness, and stressful life events.
Our rare disease teams are located within M Health Fairview Masonic Children’s Hospital, which is designed to be a “home away from home” for our patients and features many amenities, special spaces, and events. Get to know our children’s hospital.
Our rare disease program is located at M Health Fairview Masonic Childrens Hospital, which is specially designed to meet the needs of children and families. There are also a variety of lodging options available nearby, including Ronald McDonald House for families whose children are hospitalized. If you have questions or need assistance with lodging, transportation, or other accommodations, please contact our accommodations team at 612-273-3695 or 800-328-5576 (toll-free).
There are many organizations and groups available to help people diagnosed with a rare disease and their families. The National Organization for Rare Diseases (NORD) represents people with rare diseases nationwide – helping advance rare disease standards of care, policies, research, and community. The Minnesota Rare Disease Advisory Council advocates for the one in 10 Minnesotans affected by rare diseases. Their mission is to provide advice on research, diagnosis, treatment, and education. The ALD Alliance exists to cure, support, and advocate for adrenoleukodystrophy (ALD) as well as advocate for nationwide newborn screening with respect to adrenoleukodystrophy.
