{"id":2119,"date":"2021-02-21T17:00:17","date_gmt":"2021-02-21T17:00:17","guid":{"rendered":"https:\/\/blogs.bmj.com\/ebn\/?p=2119"},"modified":"2021-02-21T17:48:55","modified_gmt":"2021-02-21T17:48:55","slug":"having-a-rare-disease-is-difficult-gaining-access-to-good-coordinated-care-shouldnt-be","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/ebn\/2021\/02\/21\/having-a-rare-disease-is-difficult-gaining-access-to-good-coordinated-care-shouldnt-be\/","title":{"rendered":"Having a rare disease is difficult- gaining access to good coordinated care shouldn\u2019t be!"},"content":{"rendered":"\r\n

In this week\u2019s blog – timed to mark Rare Disease Day 2021<\/a> on the 28th February – Ms Michelle Conway gives an insight into the challenging reality of living with a rare disease and implications for nursing practice and policy.

The new UK Rare Diseases Framework<\/a> was published on the 9th January 2021.<\/strong> It provides a commitment from the four nations of the UK to develop action plans to improve the care of patients suffering from rare conditions through four priority areas, including better coordination of care. Increasing the professional infrastructure within the NHS for Rare Diseases will be essential to improving coordination of care and Rare Disease Nurse Specialists may offer the key to success.

Within the European Union, a rare disease is defined in regulation<\/a> as a life threatening or chronically debilitating condition affecting less than 5 in 10,000 of the population and it is estimated that over 3.5 million people<\/a> in the UK will be affected by a rare condition in their lifetime. This equates to 1 in 17 of the population.<\/p>\r\n

 <\/p>\r\n

\"\"<\/a><\/p>\r\n

 <\/p>\r\n

The Need for Coordinated Care in Rare Diseases?<\/strong>
Coordination of care in rare disease has become an increasing focus of attention for policymakers over recent years. One recent definition<\/a> suggests it is the ability to provide family centred, holistic evidence- based care, bringing all components of care together to avoid duplication. Given the nature of rare diseases, which often affect multiple body systems and require complex care from many different specialities, it is unsurprising that achieving coordination of care is challenging. The reality<\/a> for the average rare disease patient means they will:
\u2022 travel for up to 2 hours for clinic appointments
\u2022 attend at least 3 different clinics to receive routine ongoing care and
\u2022 attend clinic appointments at least every 3 months<\/p>\r\n

\"\"<\/a><\/p>\r\n

In a report<\/a> published in 2016, \u201cpoorly coordinated care\u201d was a \u201cmajor issue for the majority of patients affected by rare diseases\u201d. A picture reinforced in a recent survey<\/a>, suggesting only 4% of patients had a dedicated care coordinator and 71% coordinated their own care. One respondent within the survey commented \u201cIt\u2019s chaotic & relies on me organising and chasing, which is exhausting\u2026.There is nothing I would love more than a dedicated person to coordinate my care for me.\u201d<\/p>\r\n

Some rare conditions are lucky enough to benefit from dedicated nurse specialists, who can support with care coordination, which has been well received by patients and carers. However, many of the challenges experienced by those with rare conditions are similar and will benefit from practical and emotional advice as much as specialist knowledge. The first rare diseases centre for children based in Birmingham Women\u2019s and Children\u2019s hospital<\/a> have 3 rare disease nurse specialists, whose role is to coordinate and enhance the care for patients with over 500 different rare diseases attending the service. This type of role is similar to the MacMillan Nurse Specialists<\/a>, whose role involves coordination of care and providing information and emotional support to patients diagnosed with cancer. The Founder<\/a> of the recently formed Rare Disease Nurse Network, Kay Parkinson, sees the Macmillan model as a useful model on which to develop a Rare Disease Specialist nursing service within the UK, to support the improvement in care coordination for rare disease patients and improve patient care.

If the policy intent of improved care coordination in rare diseases is to be met, one thing is clear, the action plans developed by the Governments of the 4 nations will require additional funding to create a rare disease infrastructure within the NHS and will themselves need to be coordinated to deliver a cohesive approach across the UK.<\/p>\r\n


Educate<\/a> yourself about rare diseases and if you already work with rare disease patients join the Rare Disease Nurse Network through Twitter @NurseRare or Facebook Rare Disease Nurse Network and support the development of a professional infrastructure for rare diseases. To mark Rare Disease Day 2021<\/a> on the 28th February, think about how you can go beyond raising awareness and let\u2019s take action!


Michelle Conway is a nurse and independent consultant with a focus on rare disease policy in the UK. After training as a nurse, Michelle spent 17 years in the pharmaceutical industry and has recently graduated with a Masters in Public Policy from the University of Stirling. Michelle can be contacted via Twitter @mrsmjc2010<\/p>\r\n","protected":false},"excerpt":{"rendered":"

In this week\u2019s blog – timed to mark Rare Disease Day 2021 on the 28th February – Ms Michelle Conway gives an insight into the challenging reality of living with a rare disease and implications for nursing practice and policy. The new UK Rare Diseases Framework was published on the 9th January 2021. It provides […]<\/p>\n

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