Nurse Practitioners are Crucial in Diagnosing and Treating Rare Diseases
This Rare Disease Day, hear from nurse practitioners on the subject via academic articles, an accredited podcast and more.
In 2008, citing the underrepresentation of rare diseases in the parade of commemorations for conditions like heart disease, breast cancer and more, a host of European organizations banded together to christen the last day of February Rare Disease Day. What is now the worldwide Rare Disease Day falls on an apropos date this year, Feb. 29, which thanks to the quadrennial leap year is the rarest day on the calendar.
What should every nurse practitioner (NP) know about rare diseases, and what further resources are available to NPs who would like to learn even more? Find out more about NPs studying and treating rare diseases, and access resources to help you discover information about the more than 7,000 rare diseases affecting 30 million people in the United States.
How Rare is Rare?
On the continuing education activity and latest podcast episode of NP Pulse: The Voice of the Nurse Practitioner® entitled “Rare Diseases and the NP,” experts and guests Alicia Turner, MSN, APRN, FNP-C, ACGN, and Stephanie Hosley, DNP, APRN-CP, CNE, explain that rare diseases are, in the United States, those which affect fewer than 200,000 people. They also clarify that 80% of rare diseases are genetic, 70-75% of rare diseases start in childhood and — tragically — 30% of affected children with rare diseases do not live past the age of five.
Turner and Hosley discuss organizations dedicated to raising awareness of rare diseases; creating support systems programs for patients and families of the affected; and supporting treatment initiatives. For example, the National Organization for Rare Disorders (NORD) offers news, a resource library and even a database of 1200 rare diseases.
Along with other rare disease organizations, NORD is participating in the “Show Your Stripes” (or #ShowYourStripes) initiative, which their website explains as follows: “The zebra is the official mascot for rare disease patients. Historically, medical professionals were told that when they ‘hear hoofbeats,’ they should not expect to see a zebra. In other words, look for the more common answer, a horse. Now, we know that one in ten Americans is actually a zebra! It might not be obvious when you look at us, which is why we show our stripes to raise awareness.”
NPs, experienced in listening to and treating patients holistically, are an effective first line of defense in recognizing what may potentially be a rare disease in a patient or — for patients who have already been diagnosed — in treating a rare disease.
Collaboration and Communication
On NP Pulse, Turner and Hosley discuss the importance of collaboration between primary and specialty care, and the NP’s role in listening to and learning as much as they can from a patient and their caregiver. NPs, they agree, cannot be expected to know everything — especially about a disease that is representationally obscure.
First, Turner discusses the challenge in diagnosing and treating patients with a rare disease: “Why is it such a challenge for us when they present to our office? Sometimes this information is not part of our curriculum. It’s not that we don’t care — it’s not that there are not clinical guidelines that exist...we need to take the time to utilize the resources that are out there and increase our own knowledge base.” She concludes that “it’s important when we think about treating children and adults with rare disease, that many times, the individual symptoms are treated, but not the entire disease.”
Turner then discusses the importance of collaboration and reaching out to health care colleagues when questions about symptoms or a patient arise: “There are some things that a specialist is needed for — this is a team effort — but you, as a NP, can provide primary care. It’s also important that we remember our role in recognizing some of the symptoms. Delayed diagnosis of a rare disease varies from months to decades, with the average being about four to five years. As NPs, we don’t have to know everything, but we know what we don’t know. And when something is not right, it’s our job to look at those symptoms and contact somebody who does.”
More Resources and Observances
The National Institute of Health also has a page dedicated to Rare Disease Day, and the Food and Drug Administration will be holding a public meeting on March 1 “dedicated to patients and providers” of rare diseases. In addition to these public resources, NPs are also blazing academic trails in understanding rare diseases and treating patients who have a rare disease. The Journal for Nurse Practitioners recently published the article “Moyamoya Disease: Diagnosis, Management, and Roles of the Nurse Practitioners” about this particular rare vascular disease, and one focused on glycogen storage diseases. The Journal of the American Association of Nurse Practitioners also features articles related to rare diseases, including congenital myasthenic syndrome, myasthenia gravis and the usage of next-generation sequencing in diagnosing rare diseases.
Whether you’re learning about rare diseases in an online journal, listening to a podcast presented by experts on the topic or raising awareness as to why we #ShowOurStripes on Rare Disease Day, NPs are helping erase the stigma surrounding rare diseases and are concentrating on treating their patients with rare diseases by taking the time to truly listen to patients, collaborating with specialists and always learning more.