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: http://pubmed.ncbi.nlm.nih.gov. 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.
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.
As Jamil Norman, PhD, RN, CNE, a co-author of the research study Insights into fear: A phenomenal study of Black mothers (other authors of the study are Sharon L. Dormire, Jodie C. Gary, and Idethia Shevon Harvey), discovered, the greatest fear that Black mothers have is that their sons will be killed, and they won’t be able to keep them safe.
“The purpose of this phenomenological study was to identify the stressors Black women experience as mothers. This paper focused on the most striking stressor, which was living in fear. Fear for personal safety has been identified in previous research with Black populations,” says Norman, academic coordinator for Walden University’s Tempo programs. This study, she says, was the first of its kind that identified these mothers fear that their children will be killed—and it specifically referred to their sons.
“Mothers normally express fears related to raising children. The fear expressed by mothers in this study was different in that it is much more specific,” explains Norman. “Historically, Black Americans have struggled to deal with injustice, unfair treatment, threats to safety and racial inequality. These challenges are arduous as Black mothers learn to navigate raising their children to endure racial discrimination.
In this study, several stress themes were identified from the data. However, the most pervasive stressor was living in fear. Living in fear focused not on the mothers themselves but on the fear of ‘them being killed’ with ‘them’ being a Black son. Another subtheme of living in fear was the resultant concern of whether the mother could keep him safe.”
While there were some finds in the study that surprised her, the themes of “them being killed” and “can I keep him safe?” weren’t. “Although I don’t have a son of my own, I have a husband, brothers, nephews, family, and friends whom I have worried about being killed and keeping safe. These stressors were not new to me as a Black woman,” she says.
In order to help these women in the study—as well as others in the Black community—Norman says, “We need to give Black women a voice that is heard. This can be done through continued research and community outreach. It is imperative that we educate others in the community about these fears and how they make an impact on the health of Black women not only during pregnancy, but overall.”
Nurses, Norman says, can take action to help with this. “Nurses must educate themselves and advocate for their patients. It is difficult to advocate for something that you are not educated about. That’s why I believe nurses must have a general understanding of the disparities associated with maternal and infant mortality and morbidity in the Black community,” Norman says. “After nurses are educated, then they can truly advocate.”
Technology changes in the proverbial blink of an eye. Working and teaching during the COVID-19 pandemic has proven how much it will be used in the field in both practice as well as nursing education.
Julie Stegman, Vice President, Nursing Segment of Health Learning, Research & Practice at Wolters Kluwer, took time to answer our questions about their survey, Future of Technology in Nursing Education.
Why did you decide to conduct this survey? What did you hope to learn from it?
As technology advances, and more and more people have access to computers and smartphones, tech is augmenting almost every workforce. Nursing is no exception. We originated our first survey around technology usage and adoption in Nursing Education five years ago to understand how rapidly nursing programs were implementing technology as part of the education process. Technology helps nursing educators prepare students for practice so they can deliver the best care to patients everywhere, and today’s students have an expectation for a dynamic and multi-modal learning experience.
We decided to refresh our survey this year to understand the shifts in education related to the COVID-19 global pandemic and beyond. We surveyed nursing deans, program directors, and faculty to identify their plans for technology usage, adoption, and investment during the next five years and explore the barriers and opportunities related to those plans.
What are the most important results of the survey? What does this say about the future of nursing education?
Some of the results of the survey were predictable: over the last year and a half, there’s been a massive transition from in-person learning to virtual learning, with some 73% of institutions going fully online at the start of the pandemic, and another 22% adopting a hybrid model.
Though the adoption of virtual simulation and other technologies were already in play in nursing education before COVID, the pandemic greatly accelerated it out of necessity. Some 48% of respondents say they plan to invest more in virtual simulation during the next 2 years, with virtual simulation reaching full adoption by 2025.
Overall findings of the survey point to a “classroom of the future” that is hybrid, geared for digital learners with emerging and existing technologies.
How did the study work?
For our Future of Technology in Nursing Education survey, Wolters Kluwer carried out six in-depth interviews with qualified nursing respondents in August 2020, followed by a quantitative online survey sent out in December 2020. The purpose of the study was to understand technology trends. The online survey, done in collaboration with the National League for Nursing, was sent to a list of nursing administrators, faculty, and Deans provided by the National League for Nursing, yielding 450 responses.
The opinions of these respondents were critical to capture because they represent real nursing education leaders making a difference in the world of nursing education today. No one can better speak to both the day-to-day circumstances and the long-term technological trends than these respondents, and we are very pleased with our sampling.
What survey results surprised you the most?
As we showed with our previous survey, nursing education continues to be an area of early adoption of technology. This has been particularly evident in simulation learning, including research into the value and effectiveness of this learning modality. Our survey continued to reinforce this shift, with nurse educators looking ahead to fuller scale adoption of technologies as well as a continued interest in emerging technologies.
I was most surprised that the incredible shift to online learning we experienced during COVID-19 is anticipated to continue with three in ten (31%) educators saying their programs will offer the same number of online courses, and 39% indicating their program will offer more online courses.
What are the three key barriers that the survey showed are barriers to the adoption of technology? Any ideas how the nursing field can overcome them?
Various factors are hindering tech adoption in nursing education, including a lack of funding and lack of technology infrastructure. Another difficulty nursing education is facing as a side effect of increased tech adoption is faculty who may be resistant or slow to change their approach to teaching, with many faculty members opting to retire and leave the workforce. This has the potential to exacerbate an existing shortage in nursing faculty. We need to remedy this shortage to ensure that all qualified applicants can enter nursing school and become practice-ready nurses to mitigate and meet the anticipated patient demand.
COVID-19 has shown us that learning technologies need to be in place to continue to provide the best possible nursing education in the face of unpredictable learning environments, as well as address many pre-existing challenges educators faced with clinical learning. We anticipate that the pandemic and the associated shifts in learning and teaching approaches will also force a shift in funding which will help address previous hurdles as many of these solutions move from “nice to have” technologies to those that are necessary within nursing schools.
To address the gap in nursing education as a result of recent waves of retirements, we need to ensure educating future nurses is seen as critical to the nursing profession and address the challenges that create this faculty shortage. This includes compensation differences in clinical roles vs. education and ensuring that masters and doctoral programs can also increase acceptance of applicants. In addition, it’s critical to ensure that future educators are familiar with and embrace the benefits that educational technologies can bring to the learning process.
Ultimately, the #1 goal for nurses is to provide the best care to patients, everywhere and in any care setting. This begins with education and it’s essential that nursing faculty and students have the tools available to empower them to be ready to enter the workforce. The Dean’s Survey helps us understand which technologies are likely to drive this momentum, and where we can continue developing solutions to help prepare practice-ready nurses.
“Both my family and work histories came together as motivating factors for this project. As a nurse home visitor for the Nurse-Family Partnership Program in both New York City and San Francisco, I worked with Latinx families from all of the regions included in the study. In addition, my father’s family is from Costa Rica,” says Gerchow. “Through my work as a home visitor, I learned of both shared and distinct aspects of my own family’s culture and the cultures of my Latinx clients and how cultural beliefs and patterns translate into health behaviors. I wanted this study to emphasize that Latin America encompasses an enormous geographic region, where a multitude of cultures comprise the Latinx identity, and that grouping distinct groups into a single category can perpetuate health disparities.”
As for what they discovered, Gerchow says, “In the study, mothers from the Caribbean breastfed for a significantly shorter time than mothers born in the US, Mexico/Central America, or South America. Half of all Caribbean-speaking participants stopped breastfeeding by 3 months postpartum, compared to 5 months for US-born mothers, 7 months for Mexico/Central American-born mothers, and 8 months for South America-born mothers. Statistical analyses found that Caribbean-born mothers had the highest risk of shorter breastfeeding duration.”
Because of this, she adds, “Additional research around mothers’ beliefs and attitudes about breastfeeding must be conducted to understand what influences breastfeeding behaviors specifically. The significant differences by birthplace suggest that within-group cultural differences are significant, but which cultural beliefs are significant is still unknown.”
Nurses who work with breastfeeding Latinx moms may be able to help. “Nurses have a unique opportunity to offer anticipatory guidance and education around breastfeeding in the preconception and prenatal phases of the reproductive life cycle. For mothers from families or cultures where breastfeeding is not the norm, education and guidance might be different than for mothers with family members who have successfully breastfed. Tailoring counseling to the needs and attitudes of individuals and families is crucial,” says Gerchow. “Nurses have the skills and relationships with patients to offer education that enables mothers to make an informed decision. I firmly believe that infant feeding is a mother’s choice and support the decision not to breastfeed as long as it is the mother’s desire.”
In this feature, we profile a particular type of nursing so that others in the field can learn about what nurses do in this position, what they enjoy about it, and how others can get into it.
Kathleen Martinez, MSN, RN, CPN, President, American Academy of Ambulatory Care Nursing (AAACN), and an infection preventionist at Children’s Hospital Colorado, gave us information about ambulatory nurses.
What is ambulatory care nursing and what do they do?
Ambulatory care nursing is unique in that it treats an individual in this fuller context of community, family, and population. Ambulatory care considers the access and quality of health care, but also evaluates the influence of other social determinants of health: economic stability, neighborhood environment, social context, and access to quality education.
I was introduced to ambulatory care nursing when I accepted a position in Children’s Hospital Colorado Telephone Triage Center. In telephone triage, an RN uses the nursing process (assessment, diagnosis, plan, implementation, and evaluation) to determine the significance of symptoms during a phone call. Every call requires all your skills and creativity. Each encounter requires total focus and attention; interpreting and clarifying information, considering availability of resources, navigating barriers, ensuring that the family understands the care instructions, or that they have called 911, or that they have transportation available to get to the ED or clinic.
And all of this is done within an eight-minute phone call, with a family you may never have met before. I was hooked! It is incredibly empowering and humbling to walk with a family through a child’s illness.
All state Nurse Practice Acts define “Dependent Practice” in circumstances where RNs are carrying out the orders of another provider, such as an MD, Advanced Practice RN, or Physician Assistant; and “Independent Practice” in circumstances where RNs are using their knowledge, skills, and training to initiate and complete tasks within the scope of nursing. Ambulatory care lives much more in the “Independent Practice” realm.
As an ambulatory care nurse, what are your responsibilities?
Well, that depends on your role. If you have a role in Care Coordination and Transition Management (CCTM), you might be checking lab results for a patient, or adjusting their medications based on those results. You may visit a complex patient in an inpatient unit who is preparing to transition home or to an extended care facility. Maybe you are doing a home visit to ensure a family can properly deliver the medications and treatments their child requires.
If you work in a clinic that performs procedures, you may be teaching a preoperative class. Or completing a post-operative wound assessment. Or completing a procedure, such as a fecal microbiota transplant in a GI clinic, or phototherapy in a dermatology clinic. Or performing a prenatal exam or well child check in a Federally Qualified Health Center.
What many people don’t understand is that the acuity of care performed in the ambulatory care setting is similar to care delivered during an inpatient stay. In fact, more than 80% of all cancer care is delivered in ambulatory care settings, including high-dose chemotherapy, preparative regimens for bone marrow transplants, and radiation therapy.
According to the Center for Medicare and Medicaid Services (CMS) 70% of all surgeries occur in an ambulatory setting. Clinics perform complex procedures such as bronchoscopies, endoscopies, and dermatologic surgeries. In all of these settings, RNs use the nursing process to provide care, education, and support.
What are the biggest challenges in being an ambulatory care nurse?
One major challenge: Broadening the scope and job responsibilities to accurately reflect our education, training, and licensure.
Federally Qualified Health Centers and Rural Health Centers are role models in allowing nurses to work to the top of their license. Nurses perform well-child checks, routine pregnancy care, and Medicare Wellness visits. They perform screenings and manage medications with the use of Standing Orders. They teach classes on managing chronic illness. They coach, encourage, and engage individuals to take charge of their health and wellness.
Other ambulatory care settings are learning from these models and creating exciting and engaging roles for RNs.
Another major challenge: Reimbursement for services remains a frustration for nursing in all settings and is a primary focus of the American Nurses Association and the Future of Nursing 2020-2030.
What are the greatest rewards in being an ambulatory care nurse?
The promotion of health and prevention of disease occurs over a lifetime, not in a single episode of care. Ambulatory care nurses meet people where life is lived: in schools, community centers, clinics, and in their homes. We walk alongside individuals through a season or a lifetime as mentors, peers, and teachers.
Statistically, only a small percentage of people are hospitalized each year, yet greater than 90% of Americans seek health care services in ambulatory care settings. And we are there to meet them!
When I was performing telephone triage, one of the most impactful statements I could make was saying, “It sounds like you are doing a great job.” Or simply, “Your child is lucky to have you as her parent.”
Creating this space of honor and trust allows the family to interact truthfully, which allows us to provide better care. It also just feels amazing to hear the relief and gratitude in the voice of the caller when their efforts are recognized and appreciated.
If nurses want to pursue a career in ambulatory care, do they need any additional education and/or training?
A Baccalaureate Degree in Nursing provides much of the knowledge and skills needed for any nursing role, including ambulatory care nursing. A strong “Transition to Practice Program” fills in any gaps and focuses on additional training. Just as critical care nursing is a specialty, ambulatory care is a specialty, requiring ongoing education and training.
AAACN offers tools and resources to support orientation and we have developed a very popular ambulatory care nurse residency program. We also provide extensive support via education events, networking/special interest groups, and targeted publications for those interested in pursuing a career in ambulatory care nursing. I always advise nurses to join an association supporting their specialty to open career doors and bond with colleagues.
To further advance the specialty, AAACN is working with the American Association of Colleges of Nursing to ensure all prelicensure programs include adequate material and experience in the ambulatory care setting.
What kind of advice would you give to a nurse wanting to work in ambulatory care?
I have been in ambulatory care-specific or associated roles for 30 years. Every year the opportunities are expanding. The Affordable Care Act of 2010 was a game changer. After half a century of hospital-focused care, there was suddenly a shift to health maintenance, disease prevention, care coordination, patient-centered care, and looking at social determinants of health as a larger context of care.
The Future of Nursing 2020-2030 calls for an increased focus on the role and value of the RN as a member of the health care team. During the 2019 Future of Nursing 2020-2030 Town Hall meetings, the focus was almost entirely on elements central to ambulatory care: environment, community, access to health and education resources, management of chronic diseases, and wearable technology. In addition, it’s important that patients are cared for in a comfortable and familiar environment. Use of telehealth specialty care decreases the burden and cost of travel. Telephone triage and telehealth visits allow sick persons to remain at home in comfort while accessing high-quality and reliable care. In some states, use of Standing Orders greatly expands the care that can be provided by the RN.