A Rare Opportunity: APs Bolster Care in Rare Disease Programs Free

Given the nature of rare diseases, there are often a limited number of specialists available to provide care to patients in need. Advanced practitioners (APs) play a crucial role as experts in rare disease programs, providing patient care from diagnosis all the way through the lifespan.

ASH Clinical News spoke with four APs specializing in rare diseases to learn about their day-to-day responsibilities, how they developed their specialties, the nature of their collaboration with hematologists, and how their careers have evolved. Sandy Kurtin, PhD, ANP-C, AOCN, is a hematology/oncology nurse practitioner (NP) at the University of Arizona Cancer Center and specializes in pyruvate kinase deficiency. Susan Carson, MSN, is an NP at the Children’s Hospital of Los Angeles and specializes in sickle cell anemia/thalassemia. Natasha Johnson, APRN, is an NP at Moffitt Cancer Center in Tampa, Florida, and specializes in paroxysmal nocturnal hemoglobinuria (PNH). Jennifer Donkin, RN, CPNP, is a pediatric NP at the Children’s Hospital of Los Angeles and specializes in hemophilia.

ASH Clinical News: What is the scope of responsibility for APs in a rare disease program? Does it differ depending on the type of disease that’s being treated?

Ms. Carson: State guidelines for scope of practice are always the overriding force, but how you have your team set up plays a role, too. In hematology, it is a very collegial team, a collaborative model. When we see kids with positive newborn screening results for chronic illnesses like thalassemia and sickle cell, they must be scheduled with the NP because the biggest part of that first meeting is education. And that’s something that we’re really good at. The patients and families meet everybody on the team, but that first appointment is always with an NP.

Dr. Kurtin: For some of these rare diseases, there are regional centers of excellence, and they bring people from around that region to their centers for a comprehensive consultation and recommendation for treatment and monitoring. APs are critical to these programs. Many of the patients return to their home locations and may be followed by local hematology-oncology providers, which would include both APs and physicians. So, both APs in the specialty centers and in general practices require knowledge relative to rare hematologic diseases, with obvious differences in the two roles.

Ms. Johnson: At my academic center, APs can be involved from the initial consult with the physician to establish or confirm the diagnosis of PNH, and then the AP will continue caring for that patient throughout their treatment continuum. More often, the patient is scheduled with the AP for follow-up appointments to assess their treatment response and tolerance and to determine if changes need to be made. Because PNH is such a rare disease, most patients choose to be followed and treated at our center rather than with their local community physician.

ASH Clinical News: How do APs in these programs interact with patients? How do they support and provide patient care?

Ms. Carson: I am the main nurse practitioner for the thalassemia program at Children’s Hospital. I’m guiding and making all their chelation plans. I guide their transfusion plans. I write the orders for them. I counsel them on side effect management. We are their main point of contact.

Ms. Donkin: In the hemostasis and thrombosis program, I perform histories and physicals and I order the appropriate therapies. I provide teaching, education, and support. The NP sees the patient initially during the clinic session with physician support as needed. We provide comprehensive multidisciplinary care to patients with bleeding and thrombosis disorders and their families. Providers may include social workers, physical therapists, psychologists, and nutritionists.

Dr. Kurtin: Roles evolve. Those in hemophilia centers, for instance, follow kids into the transition to adulthood. The APs in those programs provide continuity for the patients. They see these patients frequently over time and are the point of contact for other providers, for the patient, and their family for expected (childbirth, surgery) or unexpected (accidents, acute illness) life events. Optimal management requires collaboration.

ASH Clinical News: What kind of training is needed for an AP to be able to work in this type of program?

Ms. Carson: We’re doing a really great job of teaching on the job. I have 23 years of experience taking care of patients with red cell disorders. We have some NPs who started off with very little experience. It’s just that drive, that interest, that curiosity, that willingness to learn and have a team to do education with. You accrue that experience and expertise through seeing patients, working with your colleagues, being mentored, and then self-directed learning as well.

Dr. Kurtin: It’s mostly on-the-job training and is very self-directed. You don’t get a lot of hematology in AP school. Your familiarity with oncology or hematology comes from prior experience most of the time. I’ve been in hematology and oncology my entire career, in the same institution. This is always what I’ve done. It’s what I did in my nursing role and my clinical specialist role and then my AP roles. There are different ways people find their niche and then grow that over time. There are some new fellowship programs for APs that may help bridge these gaps going forward.

Ms. Donkin: Most of the NPs receive education in service from the NPs in the current role within the program. There is a supportive network in education and mentoring on a regional level, which is the Western States Regional Hemophilia Network. We mentor new APs in hemostasis and thrombosis programs across the states of Nevada, California, and Hawaii, as well as Guam. There is also a network for education and support for NPs and nurses through the National Hemophilia Foundation and the World Federation of Hemophilia.

Ms. Johnson: Because there are different routes to becoming an AP and limited education in hematology specifically in each program, our department provides extensive training and mentoring to new APs. In addition, my academic center requires specialized certification or education. If you are an NP, it’s recommended that you hold an oncology certification, and these are obtained through the Oncology Nursing Certification Corporation. If you do not hold an oncology-specific certification, then you’re required to obtain a certain number of hours of continuing education per year specific to oncology and your practice.

A new initiative that Moffitt is offering is a fellowship program in hematology, oncology, and bone marrow transplant (BMT). So as an AP, you can receive specialized training first in malignant hematology for six months and then in BMT for six months, including both the inpatient and outpatient settings. This has been an excellent program, and we like to hire on our fellows.

ASH Clinical News: What is the career path like for an AP who wants to be part of a rare disease program – how do they get to this role, and what does career progression look like once they have the job?

Ms. Carson: What it really offers you is the opportunity to specialize and become an expert in your field. Although I’ve been in the same position for 23 years, I feel like I’ve grown professionally within that position. I’ve been able to participate in and be the principal investigator on different research projects. I’ve been asked to speak at conferences, both nationally and internationally, on the topics that I specialize in.

ASH Clinical News: How do APs support and collaborate with hematologists in rare disease programs?

Ms. Donkin: The collaboration is on a very collegial, advanced level. I see myself not as being supervised by a physician but in a collaborating role. For example, chronic illness or rare diseases offers the NP a unique role to assess patients, develop interventions, and educate, as well as conduct nursing research in advancing the practice. The AP role strives to provide holistic, comprehensive care to individuals with rare diseases.

Ms. Johnson: Diagnosing PNH requires thinking outside the box. It commonly occurs concurrently with other hematologic disorders, and because patients tend to see the AP more often than the hematologist, the AP needs to be able to recognize signs and symptoms of PNH quickly to prevent complications. This takes collaboration with the physician to keep them informed of concerns and suspicions to diagnose this rare disease. Once diagnosis is confirmed and treatment begins, our physicians rely on the AP to follow patients closely to assess response to treatment or bring any concerns to their attention. Additionally, APs support physicians by supporting the patient, and this includes educating patients on their diagnosis and treatment and offering support.

Dr. Kurtin: A lot of it depends on the focus of the practice you are in, your interests, and your expertise. For me, I see a very large number of non-malignant hematology patients. My role is to work them up and try to get a diagnosis. Understanding differential diagnosis for cytopenias, bleeding, thrombosis, or elevated counts is key. In some cases, I keep them and manage them, and in other cases, I may co-manage or assign them to an expert in that area once a diagnosis is made.

ASH Clinical News: What can hematologists do to help ensure their APs are effective and successful in their roles?

Ms. Carson: There’s a reason that we have such an amazing rate of retention in our red cell team. It’s because the NPs find great satisfaction in the expert care that we provide for the patients, and we always feel supported when we want to specialize in different diseases, when we want to pursue pet projects. Our hematologists know that it’s all for the good of the team and the patient, and the team is stronger when all the people on it are stronger. We truly work hand in hand.

Also, supporting the NPs so that they can work to the top of their scope is important. And that’s something that has to come not just from the hematologist but from the administration as well.

Dr. Kurtin: Allow people to do what they’re capable of doing and licensed to do. Work and learn together. Communication is key. Sharing expertise and learning together is critical.

Ms. Donkin: One of the things that physicians can do is to be very supportive of the AP or the NP participating in the development of projects and encouraging them to do their own nursing research or encouraging the AP to develop programs and educational materials. We need ongoing education on the newest clinical updates and shared expertise.

Ms. Johnson: They should really invest in their APs by providing them education and one-on-one training and mentorship. It important for physicians to encourage and support opportunities for APs to participate in conferences, research, and publishing. Communication is key as well. Having a physician that is available, responsive, and approachable makes a world of difference.