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.With 1 in 17 Britons born with or developing a rare disease, and with medical advances offering exciting new treatments to extend the lives of rare disease patients, we need innovative new options in holistic, patient-centred healthcare – such as rare disease specialist nurses.

Current care options for rare diseases put the burden on the patient to navigate multiple specialists, cover expensive travel and potentially spend long spells in hospital. This results in missed diagnoses, missed opportunities for treatment and leads to higher healthcare costs for patients and healthcare networks.

Rare disease home nursing services are a proven way to give patients individualised, consistent care, but aren’t widely established in the UK. One of the CamRARE’s first activities has been to commission a feasibility study to evaluate the need for a rare disease home nursing service, in conjunction with the Cambridge Consulting Network (CCN), the University of Cambridge’s principal student consulting group.
In March 2016 we shared the findings in an event at Cambridge Judge Business School, including a discussion of the value that specialist nurses can bring in coordination of multidisciplinary care, transition to adult care, and support for clinical trials. The evening was rounded off with an open discussion regarding home care vs. hospital care for individuals with rare disease.

To introduce the topic, Hiran Prag from the Cambridge Consulting Network shared his team’s work. This team of five students in management, biological sciences, and economics had spent three months researching the business case for a national rare disease nursing service. Their considerations included:

  • The need for rare disease nursing services
  • Costing of a potential CamRARE pilot nurse program
  • Cost-effectiveness of rare disease nursing services
  • Potential funding bodies for a pilot service

A survey revealed that 85% of rare disease patients do not have a home nursing service in place but of those, 54% believe they would benefit from one; the emerging theme being that rare disease patients need a healthcare professional with a holistic view of their care to empower them to take the helm in the management of their disease.

A home nursing service for rare disease could prove cost-effective by increasing the rate of diagnosis and decreasing misdiagnoses, thereby reducing liability claims, and by increasing patients’ compliance with medical recommendations. Examples exist where engagement of specialist nurses have led to significant savings, and a CamRARE pilot project would need to demonstrate such cost-effectiveness locally if the goal of creating a national service is to be realised.

To share her experience of rare disease nursing, we welcomed Dr Larissa Kerecuk back to Cambridge. She is Rare Disease Lead at Birmingham Children’s Hospital, which is establishing the world’s first dedicated paediatric rare disease centre. Dr Kerecuk gave an overview and progress report on the Rare Disease Centre and the ways in which patients and families have been involved in developing this vision.

Funds for the centre are being raised through their Star Appeal and two specialist rare diseases nurses have been funded by Roald Dahl’s Marvellous Children’s Charity. Input from patients and families, through outreach events and focus groups, has been central in defining the roles of the rare disease nurses, and parents were included in the interview panel for these positions. Funding has also been obtained for a transition support worker and family input regarding this role is currently being sought.

The formal part of the evening concluded with a talk from Helena Baker, VP Global Nursing & Operations at The Medical Research Network. This private provider network focuses on enabling patients to participate in clinical trials from their homes. By increasing convenience and comfort by offering home care for clinical trials, the majority of patients (>90%) complete their participation in a clinical trial compared to hospital-based trials where the patient drop-out rate is more than 50%. Since many rare disease drugs in development will need to be infused, it will be important to facilitate rare disease patients to treat themselves at home. Helena emphasized the importance of placing the patient at the centre of their care to achieving a successful outcome.

The floor was then opened up to a discussion, led by Alistair Kent OBE, regarding the value of home care vs. hospital care for rare disease and participants were challenged as to what they would want to do “if you were queen for a day…”. Royal decrees included establishing rare disease centres, better transition care, electronic medical records, and better coordination with social care. Whilst we were reminded that there is no “one size fits all” solution to rare disease care, the potential for increased integration of care and empathy that a rare disease home nursing service could provide certainly warrants further exploration by CamRARE.



Many thanks to Dr. Gemma Chandratillake for this report.
The CamRARE is happy to share the results of our study with interested organisations, and would very much like to hear from any potential partners who could help us make this service a reality.
Please contact our CEO, Kay Parkinson with any questions.