Rare New England (RNE) Addresses Challenges in the
Rare Disease Community
Rare New England (RNE) exists to help patients and their families successfully navigate the health care system. Today more than ever, education and effective communication are essential keys to a successful healthcare experience, especially for the rare disease community.
RNE's mission is to provide specialized education and the tools/resources necessary for effective communication with healthcare providers and the healthcare system.
RNE is aware of the unfortunate outcomes and awful experiences that rare-disease patients and families have endured within the health care system. The process is not only complex and confusing, but it can be an ordeal and frightening for this patient population. They fear overly-suspicious clinicians, unwarranted social service investigations, and a disruption of medical care. These fears expand such that patients and families with prior bad experiences often avoid emergency care for fear of landing in some unexpected situation that spirals out of control among clinicians unfamiliar with the complexities of their case. Such a scenario can lead to unfortunate, unwarranted accusations of Medical Child Abuse, fabricated illness or Munchausen Syndrome by Proxy, as well as somatoform disorder, conversion disorder, malingering, or Munchausen Syndrome in older children and adults.
RNE believes that the basis of many unfortunate cases comes from the challenges inherent in diagnosing rare diseases when symptoms are hard to explain and their nature may not fit within standard diagnostic criteria. Furthermore, the pressures of time and workload on health care providers often interferes with an earnest attempt to diligently investigate medical histories and/or consult current or former providers already familiar with a particular case. Without this background investigation, clinicians are more likely to make quick or unfounded impressions and develop suspicions not based in fact. Sometimes strong emotions are elicited. The unfortunate result is too often an unfair and misdirected approach to patient care which can be devastating to the patient, families and sometimes providers who take a position on behalf of the involved patient.
The rare disease community is well aware of the enormous challenges within today's health care system. The fantastically complex system that involves healthcare providers, administrators, social services, and even school systems struggles to meet the needs of "ordinary" patients; however, patients and families with rare and complex medical disorders present extraordinary challenges to the already over-burdened system. Healthcare providers, administrators, social services, school systems and many others face challenges everyday just to provide routine care to the populations they serve.
RNE has spoken with the patient community, their families, as well as health care providers about improving the health care experience. One key strategy for patients is having the knowledge and insight to catch misunderstandings and prevent problems before they occur. Effective communication skills are essential, as well as a detailed understanding of the system, including its limitations. They must have an appreciation of the roles and responsibilities of all providers, and the legal and institutional demands placed upon them. RNE collaborates with the range of stakeholders involved in clinical care, including treating physicians, child protection services, state agencies, and other patient advocacy organizations, in order to create opportunities for developing improved guidelines and protocols that preserve effective medical care while protecting patients and families from unnecessary health care crises. Continued dialogue by RNE with the many stakeholders will unmask other needs and options for improving care.
RNE wishes to see improved care and services for the rare disease community. This starts with education and two-way communication, including ongoing honest and respectful dialogue among patient/patient families and representatives of the healthcare system. Health care providers and administrators must understand and be sensitive to the often overwhelming challenges the rare disease community faces. Likewise the rare disease community needs to acknowledge the incredible complexity of current health care and determine what are realistic expectations and what is not practical. In order for the process to improve, all participants in the dialogue must do a better job of listening. That is the essential starting point on which to build the needed improvements.