Program
This presentation will cover the following:
The study of sexual differentiation has undergone dramatic changes. Advances in knowledge of genetics and hormonal regulation have expanded the understanding of Differences in Sexual Differentiation (DSD). More importantly, societal perspectives have markedly altered, (1) the perception of DSD (from a DISORDER to a DIFFERENCE), and, (2) the decision making power related to sex assignment, surgery etc. from the medical team to the parent/patient. The purpose of this presentation is to update PENS nurses on research related to DSD and give them the opportunity to ponder ethical decisions from the perspective of the patient and parent. This interactive session will present a complex, fascinating topic, discuss the controversies, and provide PENS nurses with the tools to advocate for patients and parents.
In this presentation by a pediatric endocrinologist who now works as a clinical laboratory director, attendees will learn practical tips on how to work with their clinical lab to ensure the best possible outcome for their patients. Interesting, true-life cases will be used to illustrate some of the key clinical learning points. We’ll answer questions such as, “How do I make sure the right test gets done for my patient?”, “What are my options if the lab says there’s not enough sample to do the test?”, or “What can I do if the results don’t seem to fit my patient’s clinical picture?”. We’ll also discuss special considerations for those involved in clinical research, and what changes in the regulatory environment may affect clinical and research practice.
The presenter will provide an overview of the basics of genetics, which will include the difference between DNA, genes, and chromosomes. We will cover various types of mutations, such as deletions, duplications, missense and nonsense mutations, as well as the five types of classifications, from Pathogenic to Benign. We will also cover various types of popular technology used to detect different types of mutations. Other topics will include inheritance patterns, such as autosomal dominant and recessive, and X-linked and how it relates to diseases. The presenter will also discuss the difference between clinical testing and consumer genetic testing such as through companies like 23andMe.
The presenter will provide an overview of McCune Albright Syndrome. Since MAS is a rare disease, it is important to be knowledgeable about this disease and its management, as any given practice is likely to encounter at least a few patients (perhaps more!) with this disease.
In the presence of rising health care costs, it is critical for Advanced Practice Providers (APP) to be able to describe the financial impact of their role. Documentation of the patient care provided has been a long-standing component of communication among the healthcare team. With the expansion of APPs billing for the care they provide, it is essential to have an understanding of the impact this documentation of patient care has on billing and reimbursement. This presenter will provide an overview of the components in documentation that are used to determine the level of service for care provided. This content will assist APPs in accurately matching documentation with the level of service, allowing them to maximize billing and potentially reimbursement for the care they provide.
As the incidence of type 1 diabetes in young children is increasing in the United States, diabetes providers are faced with management of these young children in larger numbers. Younger children need more daily care, and management is challenging. Diabetes providers must quickly educate families after diagnosis and then help them as they re-enter the home, work, and daycare environments while safely managing blood sugars. The presenters will provide diabetes practitioners with many cases and examples of creative solutions that can be used in the management of young children with diabetes.
This presentation is for anyone from novie to advanced learners interested in diabetes management. The goal of the presentation is to educate the audience about current and future technology to manage insulin-dependent diabetes. In order to understand our current and future management choices, there will be a brief discussion about our past diabetes management options.
The presenters aim to provide insight into completing research visits with Prader-Willi patients by highlighting the unique characteristics of this population, providing examples of scenarios from previous and current studies, common barriers and challenges, and solutions and recommendations based on this information. The audience may have clinical experience with this population or research with other populations, but have not yet run PWS studies. Recently, numerous PWS studies have started with more in the pipeline, and there is a strong interest from the PWS community. As this area of research continues to expand, clinical staff who are inexperienced with PWS-specific research and are seeking to learn more can benefit from this presentation and become better prepared for studies with this population. The presenters will also leave time for questions and open discussion to further engage participants and provide additional input on this exciting topic.
The diagnosis of Type 1 Diabetes is often unexpected and brings change and challenge to the individual and family. It is important to have a developmental approach to care. Case studies will be used to explore challenges to care through the lens of developmental expectations. After presentation of case study(s) participants will explore strategies to assist with improving care. Discussion will focus on lived experience and support of the individual.
Twelve percent of all young people in Australia have chronic health issues, and 90% of these young people are now living into adulthood. Patients with what were once thought of as “pediatric diseases” now live into adulthood. This means that children with complex endocrine conditions such as multiple pituitary hormone deficiency (MPHD) will eventually grow out of a pediatric service and require ongoing care as adults. The presenter will describe transition issues, identify the follow-up required, who will coordinate care, and when it should happen. The presenter will also discuss the challenges regarding different models of care, the difficulties of parents "letting go" and the timing of the move to adult health care services. Transition planning is a challenge for all nurses working with children with complex ongoing health care needs, and the opportunity to share expertise will allow further discussion with participants. The presenter will provide an opportunity for those with experience to share “tips of the trade” that have worked for them, and for all of us to consider the issues that need addressing for a successful transition of care to the adult medical team.
Young women with Turner Syndrome need to be under the management of specialized physician care throughout their lifetime. Dr. Schweiger will provide the most up-to-date information from literature for people with Turner Syndrome, including risks; especially in consideration of the assisted reproductive technologies and diabetes and the onset of other adult diseases and problems. Transition is a pivotal moment for these young women. A continuum of appropriate adult care is crucial. The presenter leave time for open dialogue and audience participation.
Leigh Pughe, RN, CPNP
Kara Schmid, APRN, CNP
The presenters will educate participants regarding the risk of choking in the Prader-Willi Syndrome (PWS) population. They will discuss how a quality improvement program can help lead to improving patient outcomes and safety. The presenters will inspire participants to take the information presented back to their own practices while imparting new knowledge and changing current practice.
In the ever changing matrix of health care, the health care provider continually needs to adapt. In helping others, stress may occur. Stress may impact our physical, emotional or spiritual realm. Personal concerns (ailing family members or personal illness) may shadow our ability to provide care. When the joys or storms of life strike, how does one navigate all the emotions attached to care, to not only survive, but thrive? Resiliency, the ability to bounce back despite adversity, is a dynamic process. Resiliency is “individual” and can be fostered. The ability to access resilient-reflective strengths is invaluable, as resiliency and personal health are interconnected. The goal of this session is to explore resiliency, both personally and professionally: Individual resiliency through the 7C’s (Frankowski, et al.) as promoted by the American Academy of Pediatrics through the lens of Adverse Childhood Experiences (ACEs) (Murphy, et al. and Boullier & Blair, 2018). Next, resiliency in nurse leadership will be discussed through exploration of its parts: equanimity (conveying a sense of calm in crisis), optimism (viewing situation with positivity), and perseverance (ability to move forward with courage and energy) (Stagman-Tyrer, D.). Relationships are important in resiliency support and are often forged through caring. Reflecting on individual and collective nurse journeys will encourage participants to embrace the spirit of being an endocrine nurse (Baikie, K. & Wilhelm, K. and Liesch, S.). The oak fought the wind and was broken, the willow bent when it must, and it survived. (Robert Jordan in The Fires of Heaven).
