Importance of Raising Awareness of Rare Diseases

Importance of Raising Awareness of Rare Diseases

Although rare diseases are just that—rare—it’s still important for nurses to be aware of them or be able to find out about them if they find themselves treating patients who have them.

Ann Kriebel-Gasparro, DrNP, MSN, FNP-BC, GNP-BC, faculty member for Walden University’s Master of Science in Nursing program, understands a number of rare diseases and shares her expertise with us.

What makes a disease rare? How many rare diseases are there? Any idea why more than half who have them are children?   

In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. This definition was created by Congress in the Orphan Drug Act of 1983. Rare diseases became known as “orphan diseases” because drug companies were not interested in adopting them to develop treatments. The Orphan Drug Act created financial incentives to encourage companies to develop new drugs for rare diseases. The rare disease definition was needed to establish which conditions would qualify for the new incentive programs.

Other countries have their own official definitions of a rare disease. In the European Union, a disease is defined as rare when it affects fewer than 1 in 2,000 people.

Currently, there are 7,000 or more rare diseases that have been identified. There are approximately 25-30 million Americans who have been diagnosed with a rare disease. Rare diseases can include infectious diseases, birth defects, genetic disorders, and cancers. Some of these rare diseases can be discovered on newborn screening tests. Unfortunately, many rare diseases are not currently tracked, so it is hard to keep track of how many rare diseases there are. A database is much needed, and many states are in the process of developing a database to track rare diseases. Children are affected through genetic or birth defects and may be diagnosed more quickly.

MedlinePlus tracks statistics on specific genetic diseases.

There is also a website that lists medical journal articles with statistics here: This can be a great resource to find a disease by name and using the terms “prevalence” and “incidence.”

The causes of rare diseases are currently not well known, but research is ongoing. The Institute of Medicine’s 2010 report indicates that 80% or more of rare diseases have a genetic origin, which can be inherited through parents or occur through a spontaneous gene mutation.

Because a majority of rare diseases are inherited, they are often manifested in childhood and diagnosed in children. Newborn screening may also contribute to the early diagnosis of rare diseases in children.

What are some diseases that are considered rare?  

Some of the more common rare diseases include those that you have probably heard of in the media or in print, and include multiple sclerosis (MS), which affects about 90 people in 100,000. MS affects more younger and older adults.

Other more common rare diseases are cystic fibrosis, sickle cell disease, and Tourette’s syndrome. Because of newborn screening, many more common rare diseases like sickle cell, cystic fibrosis, and storage diseases can be diagnosed at birth. If treatments exist, they can be started immediately, saving lives.

An example of this is Karina, who has a rare disease called medium chain acyl-CoA dehydrogenase deficiency (MCADD), whereby she cannot burn fat for energy. Because of newborn screening and early detection, Karina is living a healthy and active life, which includes dancing. Her mother has put together a binder of the foods that Karina can eat, which she gives to her teachers and friends, and this keeps her healthy. Newborn screening often requires just a few drops of blood taken from the infant’s foot shortly after birth. If any anomalies are found, more in-depth genetic testing can be done.

Duchenne muscular dystrophy (DMD) affects the use of voluntary muscles in the body and is inherited, primarily affecting boys of all ethnic backgrounds. Normal development occurs initially, but between the ages of 2 and 6 the affected child may have difficulty walking, running or climbing, and struggle to lift their head due to a weak neck. Eventually, the heart and breathing muscles are affected, which leads to difficulty breathing, fatigue, and heart problems due to an enlarged heart. Even with the best medical treatment, young men with DMD seldom live beyond their early thirties.

Gaucher disease (Types 1, 2 and 3) is an inherited storage disorder where fatty substances build up to toxic levels in the spleen, liver, lungs, bone marrow, and sometimes in the brain. It is genetically inherited and affects both boys and girls. Symptoms of Gaucher Type 2 begin in infancy, usually by 3 months, and these children seldom live past 3 years of age.

Why is it important to raise awareness?

Rare diseases affect newborns, children, and families. Families often feel isolated and do not know where to get resources or how to have their child diagnosed, and their children are often misdiagnosed for an average of 10 years or more. More knowledge is needed about rare diseases by the general public—as well as all health care providers—so people with a rare disease can be diagnosed early, given lifesaving treatment, and allowed to have as comfortable, pain-free, and productive a life as possible. When families and patients band together to advocate, more money can be raised for research, to change legislation and to encourage pharmaceutical companies to develop drugs that will treat rare diseases.

Although many rare diseases do not yet have pharmaceutical treatments, many rare disease groups continue to advocate for the development of treatments that can enhance and prolong the lives of all people with rare diseases.

What can nurses do to raise awareness of rare diseases?  

Nurses can join a rare disease advocacy group or become involved in research or education for patients and family members. Individual states have groups that advocate for legislation to improve life for those with rare diseases, including supporting drug development.

Some advocacy groups can be found here. More information on state-by-state advocacy can be found here.

How are the lives of people with rare diseases impacted?

People with rare diseases and their families often struggle for years trying to find a correct diagnosis for the illness or disease. They often spend years with multiple physicians who are not aware of the rare disease, screening, or treatment if there is any. Families share stories of traveling from state to state and spending large sums of money trying to find the right diagnosis, treatment centers, and a care team familiar with the rare disease. Currently, there is not a specific list of experts in specific rare diseases, but being a part of patient advocacy groups, participating in a clinical trial or reviewing articles in medical literature can be helpful in finding someone who is familiar with treating or researching a specific rare disease.