Nursing is a demanding calling no matter what area you work in. You’re expected to give the best care possible, all while working with patients, doctors, families, and your fellow nurses. It’s hard enough on the best of days, but when your patient suffers from a rare disease it can make your work seem impossible.

Rare diseases are difficult because of their rarity. It’s impossible to prepare for every possible diagnosis, so many nurses often learn about more common ailments in school and are expected to learn about rare diseases on the job. As immunology specialist nurse Gillian Potter says in Nursing Times, at times the patient might be the best source of information.

“The focus must remain on patients and the knowledge they have about their diseases, which has developed over a lifetime,” she said. “Although we must be wary, on occasion, of some things patients tell us – with the internet being responsible for some interesting, if not always accurate, information – those with a rare disease often know more about it than we do.”

Nurses already know that listening to the patient is an invaluable tool, but in the case of rare disease it might be one of the only options available at the onset of care. Rare disease management doesn’t stop there for some nurses, however. There have been instances when a rare disease becomes more commonly diagnosed, which leads to more available resources on the topic.

One such case is Fibromuscular Dysplasia, which is a disease that affects the arteries. The Fibromuscular Dysplasia Society of America (FMDSA) says it’s hard to know how many people the disease affects because the diagnosis can be difficult. In the past it would have been harder to find information about the disease, yet an RN named Pam Mace helped to raise awareness about the disease. Mace, who is now the Executive Director of FMDSA, was diagnosed with Fibromuscular Dysplasia in 2001. Her diagnosis led to visibility for the disease that might never have come without her.

Mace worked hard and eventually succeeded in getting Fibromuscular Dysplasia listed in the National Organization of Rare Diseases in 2005. Since then she and the FMDSA has been responsible for much of the awareness of the disease. Situations like this do not happen all the time, but nurses are in a unique position to advance the knowledge and awareness about rare disease due to their exposure and involvement in medicine.   In today’s world, information is easily disseminated through the Internet, so the ability to share knowledge about a specific disease is more likely to become easier.

Editor’s Note:  Carolyn Knight, blogger for BrainTrack, writes on the topics of LPN programs, healthcare reform, and advancements in the medical field.

As with all guest blog submissions, the views and opinions expressed on this guest blog are purely the bloggers’ own and do not necessarily reflect the thoughts or opinions of Global Genes / R.A.R.E. Project.  Any product claim, statistic, quote or other representation about a product or service should be verified with the provider or party in question.


2 thoughts on “Nursing and Rare Disease”

  1. Mimi Petersen says:

    Thank you for furthering awareness about FMD and As a FMD patient I am so thankfull for all the accomplishments that Pam Mace and FMDSA have made. Pam’s vast amount of nursing experience and her passionate dedication to FMDSA are a combination that have brought FMD out of the shadows and into the sights of the medical community.
    When I was first diagnosed with FMD there were only about three articles on the Internet pertaining to FMD. Now do to the efforts of Mace and FMDSA there is not only all the resources to be found at, but also Cleveland Clinic web chats, the FMDSA Inspire support group, FMDSA FB page, numerous magazine articles, a segment on mystery diagnosis, research info coming out of the FMDSA funded registry, and the list goes on.
    Most of us experience the caring and compassionate qualities of a nurse when we are in a hospital setting . For those of us that have watched Pam devote her life on behalf of FMD patients we are privileged to experience those same qualities that make a nurse special outside the walls of a hospital!
    Again thank you for such an insightfull blog!!

  2. Linda Shattuck says:

    I think Pam Mace is an INCREDIBLE person for all that she has done and is doing for FMD. With her having FMD (or without for that matter) the energy she expends continually is immesurable. I would also like to recognize Susan and Richard Gould who are to my knowledge the original founders of FMDSA. Due to very personal circumstances in their lives, they gave so much of themselves getting this org off the ground. Thanks to you all!!

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