CRND Clinical-Translational Seminar April 20, 2012 - Jacqueline Imrie,MSc.

April 20, 2012 - Ms. Jacqueline Imrie, MSc., presented a seminar: "Care and support for children and young adults with NPC in the UK". (Photo, Will Wall, 2012)

“So never lose an opportunity of urging a practical beginning, however small, for it is wonderful how often in such matters the mustard-seed germinates and roots itself”

“Apprehension, uncertainty, waiting, expectation, fear of surprise, do a patient more harm than any exertion”

“…not only to carry out the proper measures yourself but to see that every one else does so too; to see that no one willfully or ignorantly thwarts or prevents such measures”

"...if you cannot get the habit of had better give up being a nurse, for it is not your calling, however kind and anxious you may be"

(Florence Nightingale)

Over 150 years ago, Florence Nightingale, “the Lady with Lamp,” first transmitted the enduring pattern of professional nursing. Nightingale was nurse, statistician, writer, and the founder of the world’s first secular nursing school. Anyone who has read Nightingale will recognize the unadorned resoluteness of her voice in the preceeding quotes and the purity of her profession of the ethic of nursing. Utter dedication to patient welfare characterized every aspect of Nightingale's thinking. And, it was the rigor of her thinking that enabled her to revolutionize nursing in her time and set the bar for those who followed.

On April 20th, CRND students had the honor of seeing Nightingale’s light shining through one of her professional heirs.

Jackie Imrie, MSc. is a Clinical Nurse Specialist in Paediatrics at the Royal Manchester Children’s Hospital in Manchester, UK. Like Nightingale, Imrie is also a “first” and a pattern-maker. Imrie is literally and officially the “First Nurse” for families with Niemann-Pick disease in the UK. To demonstrate her “ward,” Imrie shows a map of the entire British Isle. A scatter of stars represents every identified NP-C patient in the country: all her charges.

In her capacity as First Nurse, Imrie articulates vital requirements for healthcare delivery to NP-C patients at a national level. She is both a direct care provider and advocate who ensures the responsiveness of the system to patient needs. Working across multiple institutions and groups, Imrie makes certain that patients do not fall through cracks. Although Imrie is often jovial and clearly collegial, it would not stretch the imagination to think of Nightingales’s words coming out of her mouth: “I attribute my success to this – I never gave or took any excuse.”

While Nightingale planted the seeds of modernity for the profession, Imrie conveys a sense of a more mature bloom. She speaks to the progress that has been made through the cooperative efforts of many care givers and institutions throughout UK society. She is clearly proud of the National Health Service, the gift of the British people to themselves. Imrie begins her discussion of the care provided by the National Health Service for NP-C patients by telling CRND students that "everything is free to the patients."

Imrie identified seven National Centers of Expertise (NCE), which serve rare disease patients across the country. A typical center provides access to many critical specialists, including metabolic consultants, neurologists, psychiatrics, psychologists, metabolic nurse specialists, dieticians, physiotherapists, and speech and language therapists. Patients see specialists several times a year and usually the same ones in order to maintain continuity of care and reduce stress. A matrix of external specialists throughout the healthcare system plays a key role in the diagnostic and referral processes, which feed the NCEs. Neurologists refer patients with histories of seizures. Pediatricians notice the developmental delays of children and send them for assessment. Hepatologists, treating neonatal liver disease or prolonged jaundice in early life, send youngsters to be worked-up. Psychiatrists are most often the ones who refer adults with late onset NP-C. Ophthalmologists identify the gaze palsy, which is a hallmark of the disease.

Imrie described the significance of “annual investigations,” which comprise a variety of clinical assessments, blood work and labs, swallowing assessments, walking tests, developmental assessments, and when appropriate, nerve conduction screening. Integrative case management is part of the nursing role, which also includes extensive communication with families and other care providers.

The classic nursing focus on swallowing, walking, and elimination is critical to keeping NP-C patients out of pain and alive. Regular checks of swallowing are performed and patients are monitored on a 1:1 basis at all times of oral intake. Imrie noted her group’s standard recommendation for the early introduction of alternative tube feeding since the issues of choking and aspiration are so prominent in this population. She noted that often tube feeding and some level of continued oral intake are maintained for many patients so they can continue shared meals. Dieticians are often involved in treatment planning because NP-C medications frequently effect the appetite and precipitate weight loss. Walking tests and checks on patient mobility are assessed at every age and with an eye to the safety of the patients and others around them. Accommodations are communicated to teachers, caretakers, and other service providers who oversee patient safety back home. The ongoing assessment of elimination is also crucial for NP-C patients because they often suffer from very painful constipation as a consequence of their mobility impairment. Imrie talked about her work with schools and communities to see that toilet facilities are adapted to serve patient needs and maintain patient dignity.

According to Imrie, the management of seizures must be addressed in depth at the NCE centers. She explained that some seizure cases in NP-C are so complex that months of intensive in-hospital monitoring have been required to identify the correct medications. In the NP-C patient group, multiple medications must often be combined and patients require “rescue” medications to deal with prolonged seizures. Imrie talked about the importance of reaching out to local educators and emergency transport staff in the areas serving her patients. These care givers must be notified about each patient’s seizure profile and how to respond to them in the classroom or on the way to the hospital. As the patient’s nurse, Imrie monitors medications and supplements, identifying side effects, counter indications, and tracking clinical protocols.

The NCEs address the whole person and the whole village with a variety of partners in the educational, charitable, and family organization arenas. Statements of special education needs are issued to assist in developing individualized curriculum and obtaining special education assistance. The case management of patients as they mature is subject to thoughtful advanced planning for the move into transitional adult services. Imrie works closely with the National Nieman-Pick Disease Group (UK), which is a very supportive patient and family centered organization. NNPDG provides for face-to-face home visits for patients and families, hospital visits, literature for all the disciplines and school settings, nurse specialist consultations, a Families Officer for advocacy, an Information Officer, and website forums for patient sharing and community. Additionally, because the importance of respite care for overburdened parents and primary care givers cannot be overestimated, Imrie works with families and volunteers to see that parents get some time off and families get a holiday.

Compassionate counseling to cope with loss is another feature of the NP-C nurse’s work. Imrie participates in multidisciplinary teams to help families face the reality of dementia and developmental delays in their loved ones. These two measures of disease progression are among the hardest for parents to accept and Imrie noted that they will sometimes decline the services of psychologists whose job it is to measure these losses. Similarly, support for end of life and advanced care directives is another part of Imrie’s gentle service to families. Imrie noted that in the UK system, hospice is introduced at an early stage that allows hospice care givers, patients, and family members the opportunity to get to know each other and develop confidence in a non-crisis situation. This natural way of developing trust and familiarity neutralizes the fear so often associated with the idea of hospice care. As Nightingale said, “How very little can be done under the spirit of fear.”

Following her discussion of the integrated patient care system, Imrie spoke at length about the “NP-C Suspicion Index Tool,” which has been developed by international clinical experts to assist healthcare professionals who are unfamiliar with NP-C disease in the process of screening patients for further testing for the disease. Imrie briefly illustrated the tool using a case study. It is her hope that a uniform and an easily accessible methodology like this will prove useful to physicians around the globe in terms of shortening time-to-diagnosis and time-to-treatment. (Link to the May 2012 article abstract by FA Wijburg et al., "Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C," )

Just so - is the bar set - both for those who would nurse the sick and those who would build a modern healthcare system for thirty million Americans with rare diseases.




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